{ "uniprot_canonical_ac": "P04920-1", "uniprot_ac": "P04920", "uniprot_id": "B3A2_HUMAN", "mass": { "chemical_mass": 137009.0, "monoisotopic_mass": 137009.0 }, "refseq": { "ac": "NP_001186621", "name": "anion exchange protein 2 isoform 1", "summary": "This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621" }, "gene_names": [ { "name": "SLC4A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04920", "id": "P04920" }, { "name": "AE2; BND3L; EPB3L1; HKB3; NBND3; OPTB9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621", "id": "NP_001186621" }, { "name": "AE2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04920", "id": "P04920" }, { "name": "EPB3L1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04920", "id": "P04920" }, { "name": "HKB3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04920", "id": "P04920" }, { "name": "MPB3L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P04920", "id": "P04920" }, { "name": "SLC4A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621", "id": "NP_001186621" } ], "protein_names": [ { "name": "Anion exchange protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04920" }, { "name": "AE 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04920" }, { "name": "Anion exchanger 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04920" }, { "name": "BND3L", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04920" }, { "name": "Non-erythroid band 3-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04920" }, { "name": "Solute carrier family 4 member 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04920" }, { "name": "anion exchange protein 2 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621", "id": "NP_001186621" }, { "name": "anion exchange protein 2; anion exchanger 2 type a; anion exchanger 2 type b1; anion exchanger 2 type b2; non-erythroid band 3-like protein; erythrocyte membrane protein band 3-like 1; solute carrier family 4 (anion exchanger), member 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621", "id": "NP_001186621" } ], "function": [ { "annotation": "Acid-adapted cancer cells alkalinize their cytoplasm by degrading the acid-loading membrane transporter anion exchanger 2, SLC4A2.", "evidence": [ { "database": "RefSeq", "id": "NP_001186621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621" }, { "database": "PubMed", "id": "37270778", "url": "https://glygen.org/publication/PubMed/37270778" } ] }, { "annotation": "Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001186621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621" }, { "database": "PubMed", "id": "34944008", "url": "https://glygen.org/publication/PubMed/34944008" } ] }, { "annotation": "SLC4A2 anion exchanger promotes tumour cell malignancy via enhancing net acid efflux across golgi membranes.", "evidence": [ { "database": "RefSeq", "id": "NP_001186621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621" }, { "database": "PubMed", "id": "34279699", "url": "https://glygen.org/publication/PubMed/34279699" } ] }, { "annotation": "SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001186621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621" }, { "database": "PubMed", "id": "36343920", "url": "https://glygen.org/publication/PubMed/36343920" } ] }, { "annotation": "Sodium-independent anion exchanger which mediates the electroneutral exchange of chloride for bicarbonate ions across the cell membrane (PubMed:15184086, PubMed:34668226). Plays an important role in osteoclast differentiation and function (PubMed:34668226). Regulates bone resorption and calpain-dependent actin cytoskeleton organization in osteoclasts via anion exchange-dependent control of pH (By similarity). Essential for intracellular pH regulation in CD8(+) T-cells upon CD3 stimulation, modulating CD8(+) T-cell responses (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920#function" }, { "database": "UniProtKB", "id": "P13808", "url": "https://www.uniprot.org/uniprot/P13808#function" }, { "database": "PubMed", "id": "34668226", "url": "https://glygen.org/publication/PubMed/34668226" }, { "database": "PubMed", "id": "15184086", "url": "https://glygen.org/publication/PubMed/15184086" } ] }, { "annotation": "This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_001186621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621" } ] } ], "disease": [ { "disease_id": "MONDO:0957262", "recommended_name": { "id": "MONDO:0957262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0957262", "name": "osteopetrosis, autosomal recessive 9", "description": "" }, "synonyms": [ { "id": "MIM:620366", "resource": "MIM", "url": "https://www.omim.org/entry/620366", "name": "Osteopetrosis, autosomal recessive 9", "description": "Osteopetrosis, autosomal recessive 9" } ], "evidence": [ { "id": "620366", "database": "MIM", "url": "https://www.omim.org/entry/620366" } ] } ], "snv": [ { "evidence": [ { "id": "P04920", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04920" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1014, "end_pos": 1014, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "I", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (ITT->NTT).", "chr_id": "7", "chr_pos": "151074835", "ref_nt": "T", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "I1014", "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P04920", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04920" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1092, "end_pos": 1092, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "M", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs370805035.", "chr_id": "7", "chr_pos": "151075482", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T1092", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] }, { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs17856814", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs17856814" }, { "id": "rs17856814", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs17856814" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1133, "end_pos": 1133, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGI->NGT).", "chr_id": "7", "chr_pos": "151075702", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I1133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P04920", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P04920" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1221, "end_pos": 1221, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NEA->NET).", "chr_id": "7", "chr_pos": "151076302", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A1221", "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has 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"id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04920", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04920" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P04920", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04920" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P04920", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04920" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P04920", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04920" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04920", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04920" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04920" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04920" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013769", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013769", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016152", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016152", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018241", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018241", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6522", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6522", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "109280", "url": "http://www.omim.org/entry/109280", "database": "MIM", "categories": [ "Other" ] }, { "id": "620366", "url": "http://www.omim.org/entry/620366", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P04920", "url": "https://www.nextprot.org/entry/NX_P04920", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P04920", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04920", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "RYQRMPT", "url": "https://omabrowser.org/oma/group/RYQRMPT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1013180at2759", "url": "http://www.orthodb.org/?query=1013180at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11453", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11453:SF14", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453:SF14", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "8GV8", "url": "https://www.rcsb.org/structure/8GV8", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8GV9", "url": "https://www.rcsb.org/structure/8GV9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8GVA", "url": "https://www.rcsb.org/structure/8GVA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8GVC", "url": "https://www.rcsb.org/structure/8GVC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8GVE", "url": "https://www.rcsb.org/structure/8GVE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8GVF", "url": "https://www.rcsb.org/structure/8GVF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8GVH", "url": "https://www.rcsb.org/structure/8GVH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00955", "url": "http://pfam.xfam.org/family/PF00955", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07565", "url": "http://pfam.xfam.org/family/PF07565", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P04920", "url": "https://pharos.nih.gov/targets/P04920", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P04920", "url": "http://purl.obolibrary.org/obo/PR_P04920", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001186621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "72363", "url": "https://www.rhea-db.org/rhea/72363", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A7I2V5T6", "url": "https://www.uniprot.org/uniprot/A0A7I2V5T6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A7I2V5T6-1", "url": "https://www.uniprot.org/uniprot/A0A7I2V5T6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J035", "url": "https://www.uniprot.org/uniprot/C9J035", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J035-1", "url": "https://www.uniprot.org/uniprot/C9J035-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J459", "url": "https://www.uniprot.org/uniprot/C9J459", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J459-1", "url": "https://www.uniprot.org/uniprot/C9J459-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J722", "url": "https://www.uniprot.org/uniprot/C9J722", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J722-1", "url": "https://www.uniprot.org/uniprot/C9J722-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J9M9", "url": "https://www.uniprot.org/uniprot/C9J9M9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J9M9-1", "url": "https://www.uniprot.org/uniprot/C9J9M9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JVC2", "url": "https://www.uniprot.org/uniprot/C9JVC2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JVC2-1", "url": "https://www.uniprot.org/uniprot/C9JVC2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04920-1", "url": "https://www.uniprot.org/uniprot/P04920-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04920-2", "url": "https://www.uniprot.org/uniprot/P04920-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04920-3", "url": "https://www.uniprot.org/uniprot/P04920-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSAPRRPAKGADSFCTPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGEEPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRRRPGASPTGETPTIEEGEEDEDEASEAEGARALTQPSPVSTPSSVQFFLQEDDSADRKAERTSPSSPAPLPHQEATPRASKGAQAGTQVEEAEAEAVAVASGTAGGDDGGASGRPLPKAQPGHRSYNLQERRRIGSMTGAEQALLPRVPTDEIEAQTLATADLDLMKSHRFEDVPGVRRHLVRKNAKGSTQSGREGREPGPTPRARPRAPHKPHEVFVELNELLLDKNQEPQWRETARWIKFEEDVEEETERWGKPHVASLSFRSLLELRRTLAHGAVLLDLDQQTLPGVAHQVVEQMVISDQIKAEDRANVLRALLLKHSHPSDEKDFSFPRNISAGSLGSLLGHHHGQGAESDPHVTEPLMGGVPETRLEVERERELPPPAPPAGITRSKSKHELKLLEKIPENAEATVVLVGCVEFLSRPTMAFVRLREAVELDAVLEVPVPVRFLFLLLGPSSANMDYHEIGRSISTLMSDKQFHEAAYLADEREDLLTAINAFLDCSVVLPPSEVQGEELLRSVAHFQRQMLKKREEQGRLLPTGAGLEPKSAQDKALLQMVEAAGAAEDDPLRRTGRPFGGLIRDVRRRYPHYLSDFRDALDPQCLAAVIFIYFAALSPAITFGGLLGEKTQDLIGVSELIMSTALQGVVFCLLGAQPLLVIGFSGPLLVFEEAFFSFCSSNHLEYLVGRVWIGFWLVFLALLMVALEGSFLVRFVSRFTQEIFAFLISLIFIYETFYKLVKIFQEHPLHGCSASNSSEVDGGENMTWAGARPTLGPGNRSLAGQSGQGKPRGQPNTALLSLVLMAGTFFIAFFLRKFKNSRFFPGRIRRVIGDFGVPIAILIMVLVDYSIEDTYTQKLSVPSGFSVTAPEKRGWVINPLGEKSPFPVWMMVASLLPAILVFILIFMETQITTLIISKKERMLQKGSGFHLDLLLIVAMGGICALFGLPWLAAATVRSVTHANALTVMSKAVAPGDKPKIQEVKEQRVTGLLVALLVGLSIVIGDLLRQIPLAVLFGIFLYMGVTSLNGIQFYERLHLLLMPPKHHPDVTYVKKVRTLRMHLFTALQLLCLALLWAVMSTAASLAFPFILILTVPLRMVVLTRIFTDREMKCLDANEAEPVFDEREGVDEYNEMPMPV", "length": 1241, "header": "sp|P04920-1|B3A2_HUMAN Isoform 1 of Anion exchange protein 2 OS=Homo sapiens OX=9606 GN=SLC4A2 PE=1 SV=4 CANONICAL=P04920-1" }, "isoforms": [ { "isoform_ac": "A0A7I2V5T6-1", "url": "", "sequence": { "sequence": "MSSAPRRPAKGADSFCTPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGEEPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRRRPGASPTGETPTIEEGEEDEDEASEAEGARALTQPSPVSTPSSVQFFLQEDDSADRKAERTSPSSPAPLPHQEATPRASKGAQAGTQVEEAEAEAVAVASGTAGGDDGGASGRPLPKAQPGHRSYNLQERRRIGSMTGAEQALLPRVPTDEIEAQTLATADLDLMKSHRFEDVPGVRRHLVRKNAKGSTQSGREGREPGPTPRARPRAPHKPHEVFVELNELLLDKNQEPQWRETARWIKFEEDVEEETERWGKPHVASLSFRSLLELRRTLAHGAVLLDLDQQTLPGVAHQVVEQMVISDQIKAEDRANVLRALLLKHSHPSDEKDFSFPRNISAGSLGSLLGHHHGQGAESDPHVTEPLMGGVPETRLEVERERELPPPAPPAGITRSKSKHELKLLEKIPENAEATVVLVGCVEFLSRPTMAFVRLREAVELDAVLEVPVPVRFLFLLLGPSSANMDYHEIGRSISTLMSDKQFHEAAYLADEREDLLTAINAFLDCSVVLPPSEVQGEELLRSVAHFQRQMLKKREEQGRLLPTGAGLEPKSAQDKALLQMVEAAGAAEDDPLRRTGRPFGGLIRDVRRRYPHYLSDFRDALDPQCLAAVIFIYFAALSPAITFGGLLGEKTQDLIGVSELIMSTALQGVVFCLLGAQPLLVIGFSGPLLVFEEAFFSFCSSNHLEYLVGRVWIGFWLVFLALLMVALEGSFLVRFVSRFTQEIFAFLISLIFIYETFYKLVKIFQEHPLHGCSASNSSEVDGDPAGDWGLWGAHRHPHHGACGLQY", "length": 889, "header": "tr|A0A7I2V5T6-1|A0A7I2V5T6_HUMAN Computationally mapped isoform of Anion exchange protein OS=Homo sapiens OX=9606 GN=SLC4A2 PE=1 SV=1 CANONICAL=P04920-1" }, "locus": { "chromosome": "7", "start_pos": 151074469, "end_pos": 151061988, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000677246.1", "url": "https://www.ensembl.org/id/ENST00000677246.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000504447.1", "url": "https://www.ensembl.org/id/ENSP00000504447.1" } ] } }, { "isoform_ac": "C9J035-1", "url": "", "sequence": { "sequence": "MSSAPRRPAKGADSFCTPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGEEPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRRRPGASPTGETPTIEEGEEDEDEASEAEGARALTQPSPVSTPS", "length": 150, "header": "tr|C9J035-1|B3A2_HUMAN Computationally mapped isoform of Anion exchange protein 2 OS=Homo sapiens OX=9606 GN=SLC4A2 PE=1 SV=8 CANONICAL=P04920-1" }, "locus": { "chromosome": "7", "start_pos": 151064758, "end_pos": 151061988, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000463414.5", "url": "https://www.ensembl.org/id/ENST00000463414.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418584.1", "url": "https://www.ensembl.org/id/ENSP00000418584.1" } ] } }, { "isoform_ac": "C9J459-1", "url": "", "sequence": { "sequence": "MSSAPRRPAKGADSFCTPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGEEPGRSYGEED", "length": 70, "header": "tr|C9J459-1|C9J459_HUMAN Computationally mapped isoform of Solute carrier family 4 member 2 OS=Homo sapiens OX=9606 GN=SLC4A2 PE=1 SV=1 CANONICAL=P04920-1" }, "locus": { "chromosome": "7", "start_pos": 151064360, "end_pos": 151061988, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000488420.1", "url": "https://www.ensembl.org/id/ENST00000488420.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000417221.1", "url": "https://www.ensembl.org/id/ENSP00000417221.1" } ] } }, { "isoform_ac": "C9J722-1", "url": "", "sequence": { "sequence": "MSSAPRRPAKGADSFCTPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGEEPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRRRPGASPTGETPTIEEGEEDEDEASEAEGARALTQPSP", "length": 145, "header": "tr|C9J722-1|B3A2_HUMAN Computationally mapped isoform of Anion exchange protein 2 OS=Homo sapiens OX=9606 GN=SLC4A2 PE=1 SV=1 CANONICAL=P04920-1" }, "locus": { "chromosome": "7", "start_pos": 151064743, "end_pos": 151061988, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000483786.5", "url": "https://www.ensembl.org/id/ENST00000483786.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000417808.1", "url": "https://www.ensembl.org/id/ENSP00000417808.1" } ] } }, { "isoform_ac": "C9J9M9-1", "url": "", "sequence": { "sequence": "MSSAPRRPAKGADSFCTPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGEEPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRRRPGASPTGETPTIEEGEEDEDEASEAEGARALTQPSPVSTPSSVQFFLQEDDSADRKAERT", "length": 169, "header": "tr|C9J9M9-1|C9J9M9_HUMAN Computationally mapped isoform of Solute carrier family 4 member 2 OS=Homo sapiens OX=9606 GN=SLC4A2 PE=1 SV=1 CANONICAL=P04920-1" }, "locus": { "chromosome": "7", "start_pos": 151064895, "end_pos": 151061988, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000490898.5", "url": "https://www.ensembl.org/id/ENST00000490898.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418114.1", "url": "https://www.ensembl.org/id/ENSP00000418114.1" } ] } }, { "isoform_ac": "C9JVC2-1", "url": "", "sequence": { "sequence": "MSSAPRRPAKGADSFCTPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGEEPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRRRPGASPTGETPTIEEGEED", "length": 127, "header": "tr|C9JVC2-1|B3A2_HUMAN Computationally mapped isoform of Anion exchange protein 2 OS=Homo sapiens OX=9606 GN=SLC4A2 PE=1 SV=1 CANONICAL=P04920-1" }, "locus": { "chromosome": "7", "start_pos": 151064689, "end_pos": 151061988, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000482950.5", "url": "https://www.ensembl.org/id/ENST00000482950.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000419379.1", "url": "https://www.ensembl.org/id/ENSP00000419379.1" } ] } }, { "isoform_ac": "P04920-1", "url": "", "sequence": { "sequence": "MSSAPRRPAKGADSFCTPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGEEPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRRRPGASPTGETPTIEEGEEDEDEASEAEGARALTQPSPVSTPSSVQFFLQEDDSADRKAERTSPSSPAPLPHQEATPRASKGAQAGTQVEEAEAEAVAVASGTAGGDDGGASGRPLPKAQPGHRSYNLQERRRIGSMTGAEQALLPRVPTDEIEAQTLATADLDLMKSHRFEDVPGVRRHLVRKNAKGSTQSGREGREPGPTPRARPRAPHKPHEVFVELNELLLDKNQEPQWRETARWIKFEEDVEEETERWGKPHVASLSFRSLLELRRTLAHGAVLLDLDQQTLPGVAHQVVEQMVISDQIKAEDRANVLRALLLKHSHPSDEKDFSFPRNISAGSLGSLLGHHHGQGAESDPHVTEPLMGGVPETRLEVERERELPPPAPPAGITRSKSKHELKLLEKIPENAEATVVLVGCVEFLSRPTMAFVRLREAVELDAVLEVPVPVRFLFLLLGPSSANMDYHEIGRSISTLMSDKQFHEAAYLADEREDLLTAINAFLDCSVVLPPSEVQGEELLRSVAHFQRQMLKKREEQGRLLPTGAGLEPKSAQDKALLQMVEAAGAAEDDPLRRTGRPFGGLIRDVRRRYPHYLSDFRDALDPQCLAAVIFIYFAALSPAITFGGLLGEKTQDLIGVSELIMSTALQGVVFCLLGAQPLLVIGFSGPLLVFEEAFFSFCSSNHLEYLVGRVWIGFWLVFLALLMVALEGSFLVRFVSRFTQEIFAFLISLIFIYETFYKLVKIFQEHPLHGCSASNSSEVDGGENMTWAGARPTLGPGNRSLAGQSGQGKPRGQPNTALLSLVLMAGTFFIAFFLRKFKNSRFFPGRIRRVIGDFGVPIAILIMVLVDYSIEDTYTQKLSVPSGFSVTAPEKRGWVINPLGEKSPFPVWMMVASLLPAILVFILIFMETQITTLIISKKERMLQKGSGFHLDLLLIVAMGGICALFGLPWLAAATVRSVTHANALTVMSKAVAPGDKPKIQEVKEQRVTGLLVALLVGLSIVIGDLLRQIPLAVLFGIFLYMGVTSLNGIQFYERLHLLLMPPKHHPDVTYVKKVRTLRMHLFTALQLLCLALLWAVMSTAASLAFPFILILTVPLRMVVLTRIFTDREMKCLDANEAEPVFDEREGVDEYNEMPMPV", "length": 1241, "header": "sp|P04920-1|B3A2_HUMAN Isoform 1 of Anion exchange protein 2 OS=Homo sapiens OX=9606 GN=SLC4A2 PE=1 SV=4 CANONICAL=P04920-1" }, "locus": { "chromosome": "7", "start_pos": 151076364, "end_pos": 151061988, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000413384.7", "url": "https://www.ensembl.org/id/ENST00000413384.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000405600.2", "url": "https://www.ensembl.org/id/ENSP00000405600.2" } ] } }, { "isoform_ac": "P04920-2", "url": "", "sequence": { "sequence": "MTQPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGEEPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRRRPGASPTGETPTIEEGEEDEDEASEAEGARALTQPSPVSTPSSVQFFLQEDDSADRKAERTSPSSPAPLPHQEATPRASKGAQAGTQVEEAEAEAVAVASGTAGGDDGGASGRPLPKAQPGHRSYNLQERRRIGSMTGAEQALLPRVPTDEIEAQTLATADLDLMKSHRFEDVPGVRRHLVRKNAKGSTQSGREGREPGPTPRARPRAPHKPHEVFVELNELLLDKNQEPQWRETARWIKFEEDVEEETERWGKPHVASLSFRSLLELRRTLAHGAVLLDLDQQTLPGVAHQVVEQMVISDQIKAEDRANVLRALLLKHSHPSDEKDFSFPRNISAGSLGSLLGHHHGQGAESDPHVTEPLMGGVPETRLEVERERELPPPAPPAGITRSKSKHELKLLEKIPENAEATVVLVGCVEFLSRPTMAFVRLREAVELDAVLEVPVPVRFLFLLLGPSSANMDYHEIGRSISTLMSDKQFHEAAYLADEREDLLTAINAFLDCSVVLPPSEVQGEELLRSVAHFQRQMLKKREEQGRLLPTGAGLEPKSAQDKALLQMVEAAGAAEDDPLRRTGRPFGGLIRDVRRRYPHYLSDFRDALDPQCLAAVIFIYFAALSPAITFGGLLGEKTQDLIGVSELIMSTALQGVVFCLLGAQPLLVIGFSGPLLVFEEAFFSFCSSNHLEYLVGRVWIGFWLVFLALLMVALEGSFLVRFVSRFTQEIFAFLISLIFIYETFYKLVKIFQEHPLHGCSASNSSEVDGGENMTWAGARPTLGPGNRSLAGQSGQGKPRGQPNTALLSLVLMAGTFFIAFFLRKFKNSRFFPGRIRRVIGDFGVPIAILIMVLVDYSIEDTYTQKLSVPSGFSVTAPEKRGWVINPLGEKSPFPVWMMVASLLPAILVFILIFMETQITTLIISKKERMLQKGSGFHLDLLLIVAMGGICALFGLPWLAAATVRSVTHANALTVMSKAVAPGDKPKIQEVKEQRVTGLLVALLVGLSIVIGDLLRQIPLAVLFGIFLYMGVTSLNGIQFYERLHLLLMPPKHHPDVTYVKKVRTLRMHLFTALQLLCLALLWAVMSTAASLAFPFILILTVPLRMVVLTRIFTDREMKCLDANEAEPVFDEREGVDEYNEMPMPV", "length": 1227, "header": "sp|P04920-2|B3A2_HUMAN Isoform 2 of Anion exchange protein 2 OS=Homo sapiens OX=9606 GN=SLC4A2 PE=1 SV=4 CANONICAL=P04920-1" }, "locus": { "chromosome": "7", "start_pos": 151076364, "end_pos": 151063181, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000461735.1", "url": "https://www.ensembl.org/id/ENST00000461735.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000419164.1", "url": "https://www.ensembl.org/id/ENSP00000419164.1" } ] } }, { "isoform_ac": "P04920-3", "url": "", "sequence": { "sequence": "MDFLLRPQPEPESLGPGTPGFPEQEEDELHRTLGVERFEEILQEAGSRGGEEPGRSYGEEDFEYHRQSSHHIHHPLSTHLPPDARRRKTPQGPGRKPRRRPGASPTGETPTIEEGEEDEDEASEAEGARALTQPSPVSTPSSVQFFLQEDDSADRKAERTSPSSPAPLPHQEATPRASKGAQAGTQVEEAEAEAVAVASGTAGGDDGGASGRPLPKAQPGHRSYNLQERRRIGSMTGAEQALLPRVPTDEIEAQTLATADLDLMKSHRFEDVPGVRRHLVRKNAKGSTQSGREGREPGPTPRARPRAPHKPHEVFVELNELLLDKNQEPQWRETARWIKFEEDVEEETERWGKPHVASLSFRSLLELRRTLAHGAVLLDLDQQTLPGVAHQVVEQMVISDQIKAEDRANVLRALLLKHSHPSDEKDFSFPRNISAGSLGSLLGHHHGQGAESDPHVTEPLMGGVPETRLEVERERELPPPAPPAGITRSKSKHELKLLEKIPENAEATVVLVGCVEFLSRPTMAFVRLREAVELDAVLEVPVPVRFLFLLLGPSSANMDYHEIGRSISTLMSDKQFHEAAYLADEREDLLTAINAFLDCSVVLPPSEVQGEELLRSVAHFQRQMLKKREEQGRLLPTGAGLEPKSAQDKALLQMVEAAGAAEDDPLRRTGRPFGGLIRDVRRRYPHYLSDFRDALDPQCLAAVIFIYFAALSPAITFGGLLGEKTQDLIGVSELIMSTALQGVVFCLLGAQPLLVIGFSGPLLVFEEAFFSFCSSNHLEYLVGRVWIGFWLVFLALLMVALEGSFLVRFVSRFTQEIFAFLISLIFIYETFYKLVKIFQEHPLHGCSASNSSEVDGGENMTWAGARPTLGPGNRSLAGQSGQGKPRGQPNTALLSLVLMAGTFFIAFFLRKFKNSRFFPGRIRRVIGDFGVPIAILIMVLVDYSIEDTYTQKLSVPSGFSVTAPEKRGWVINPLGEKSPFPVWMMVASLLPAILVFILIFMETQITTLIISKKERMLQKGSGFHLDLLLIVAMGGICALFGLPWLAAATVRSVTHANALTVMSKAVAPGDKPKIQEVKEQRVTGLLVALLVGLSIVIGDLLRQIPLAVLFGIFLYMGVTSLNGIQFYERLHLLLMPPKHHPDVTYVKKVRTLRMHLFTALQLLCLALLWAVMSTAASLAFPFILILTVPLRMVVLTRIFTDREMKCLDANEAEPVFDEREGVDEYNEMPMPV", "length": 1232, "header": "sp|P04920-3|B3A2_HUMAN Isoform 3 of Anion exchange protein 2 OS=Homo sapiens OX=9606 GN=SLC4A2 PE=1 SV=4 CANONICAL=P04920-1" }, "locus": { "chromosome": "7", "start_pos": 151076364, "end_pos": 151062640, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000392826.6", "url": "https://www.ensembl.org/id/ENST00000392826.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000376571.2", "url": "https://www.ensembl.org/id/ENSP00000376571.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 859, "start_aa": "Asn", "end_pos": 859, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn859", "evidence": [ { "id": "P04920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04920#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 868, "start_aa": "Asn", "end_pos": 868, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn868", "evidence": [ { "id": "P04920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04920#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 882, "start_aa": "Asn", "end_pos": 882, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn882", "evidence": [ { "id": "P04920", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04920#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P04920", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04920" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 113, "end_pos": 113, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P04920", "url": "http://phospho.elm.eu.org/byAccession/P04920.html" } ], "site_lbl": "Ser113" }, { "start_pos": 115, "end_pos": 115, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "P04920", "url": "http://phospho.elm.eu.org/byAccession/P04920.html" } ], "site_lbl": "Thr115" }, { "start_pos": 118, "end_pos": 118, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Thr118" }, { "start_pos": 132, "end_pos": 132, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "phospho.ELM", "id": "P04920", "url": "http://phospho.elm.eu.org/byAccession/P04920.html" } ], "site_lbl": "Ser132" }, { "start_pos": 144, "end_pos": 144, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P04920", "url": "http://phospho.elm.eu.org/byAccession/P04920.html" } ], "site_lbl": "Ser144" }, { "start_pos": 148, "end_pos": 148, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "P04920", "url": "http://phospho.elm.eu.org/byAccession/P04920.html" } ], "site_lbl": "Thr148" }, { "start_pos": 169, "end_pos": 169, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr169" }, { "start_pos": 170, "end_pos": 170, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P04920", "url": "http://phospho.elm.eu.org/byAccession/P04920.html" } ], "site_lbl": "Ser170" }, { "start_pos": 172, "end_pos": 172, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P04920", "url": "http://phospho.elm.eu.org/byAccession/P04920.html" } ], "site_lbl": "Ser172" }, { "start_pos": 173, "end_pos": 173, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "P04920", "url": "http://phospho.elm.eu.org/byAccession/P04920.html" } ], "site_lbl": "Ser173" }, { "start_pos": 183, "end_pos": 183, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "phospho.ELM", "id": "P04920", "url": "http://phospho.elm.eu.org/byAccession/P04920.html" } ], "site_lbl": "Thr183" }, { "start_pos": 243, "end_pos": 243, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" } ], "site_lbl": "Ser243" }, { "start_pos": 257, "end_pos": 257, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" } ], "site_lbl": "Thr257" }, { "start_pos": 443, "end_pos": 443, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "phospho.ELM", "id": "P04920", "url": "http://phospho.elm.eu.org/byAccession/P04920.html" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser443" }, { "start_pos": 446, "end_pos": 446, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser446" }, { "start_pos": 449, "end_pos": 449, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser449" }, { "start_pos": 461, "end_pos": 461, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser461" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Cloning, tissue distribution, genomic organization, and functional characterization of NBC3, a new member of the sodium bicarbonate cotransporter family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Pushkin A, Abuladze N, Lee I, Newman D, Hwang J, Kurtz I", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "10347222", "url": "https://glygen.org/publication/PubMed/10347222" } ] }, { "title": "Characterization of Na+/HCO-3 cotransporter isoform NBC-3.", "journal": "The American journal of physiology", "date": "1999", "authors": "Amlal H, Burnham CE, Soleimani M", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "10362779", "url": "https://glygen.org/publication/PubMed/10362779" } ] }, { "title": "Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.", "journal": "Nature genetics", "date": "1999", "authors": "Igarashi T, Inatomi J, Sekine T, Cha SH, Kanai Y, Kunimi M, Tsukamoto K, Satoh H, Shimadzu M, Tozawa F, Mori T, Shiobara M, Seki G, Endou H", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "10545938", "url": "https://glygen.org/publication/PubMed/10545938" } ] }, { "title": "Tissue-specific N-terminal isoforms from overlapping alternate promoters of the human AE2 anion exchanger gene.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2000", "authors": "Medina J F, Lecanda J, Ac\u00edn A, Ciesielczyk P, Prieto J", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" } ], "reference": [ { "type": "PubMed", "id": "10623603", "url": "https://glygen.org/publication/PubMed/10623603" } ] }, { "title": "Cloning, characterization and chromosomal assignment of NBC4, a new member of the sodium bicarbonate cotransporter family.", "journal": "Biochimica et biophysica acta", "date": "2000", "authors": "Pushkin A, Abuladze N, Newman D, Lee I, Xu G, Kurtz I", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "10978526", "url": "https://glygen.org/publication/PubMed/10978526" } ] }, { "title": "A novel sodium bicarbonate cotransporter-like gene in an ancient duplicated region: SLC4A9 at 5q31.", "journal": "Genome biology", "date": "2001", "authors": "Lipovich L, Lynch ED, Lee MK, King MC", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "11305939", "url": "https://glygen.org/publication/PubMed/11305939" } ] }, { "title": "Functional characterization of NBC4: a new electrogenic sodium-bicarbonate cotransporter.", "journal": "American journal of physiology. Cell physiology", "date": "2002", "authors": "Sassani P, Pushkin A, Gross E, Gomer A, Abuladze N, Dukkipati R, Carpenito G, Kurtz I", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "11788353", "url": "https://glygen.org/publication/PubMed/11788353" } ] }, { "title": "Shared apical sorting of anion exchanger isoforms AE2a, AE2b1, and AE2b2 in primary hepatocytes.", "journal": "Biochemical and biophysical research communications", "date": "2004-07-02", "authors": "Aranda Victoria, Mart\u00ednez I\u00f1igo, Melero Saida, Lecanda Jon, Banales Jes\u00fas M, Prieto Jes\u00fas, Medina Juan F", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" } ], "reference": [ { "type": "PubMed", "id": "15184086", "url": "https://glygen.org/publication/PubMed/15184086" } ] }, { "title": "Complete nucleotide sequence of band 3 related anion transport protein AE2 from human kidney.", "journal": "Biochim. Biophys. Acta", "date": "1992", "authors": "Gehrig H, Muller W, Appelhans H", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" } ], "reference": [ { "type": "PubMed", "id": "1562608", "url": "https://glygen.org/publication/PubMed/1562608" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "UniProtKB", "id": "C9J035", "url": "https://www.uniprot.org/uniprot/C9J035" }, { "database": "iPTMnet", "id": "P04920-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Characterization of human SLC4A10 as an electroneutral Na/HCO3 cotransporter (NBCn2) with Cl- self-exchange activity.", "journal": "The Journal of biological chemistry", "date": "2008", "authors": "Parker MD, Musa-Aziz R, Rojas JD, Choi I, Daly CM, Boron WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "18319254", "url": "https://glygen.org/publication/PubMed/18319254" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "P04920-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "iPTMnet", "id": "P04920-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "P04920-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920-1" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", "journal": "Science signaling", "date": "2009", "authors": "Mayya V, Lundgren DH, Hwang SI, Rezaul K, Wu L, Eng JK, Rodionov V, Han DK", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" } ], "reference": [ { "type": "PubMed", "id": "19690332", "url": "https://glygen.org/publication/PubMed/19690332" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P04920-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "iPTMnet", "id": "P04920", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04920" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Guo A, Gu H, Zhou J, Mulhern D, Wang Y, Lee KA, Yang V, Aguiar M, Kornhauser J, Jia X, Ren J, Beausoleil SA, Silva JC, Vemulapalli V, Bedford MT, Comb MJ", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" } ], "reference": [ { "type": "PubMed", "id": "24129315", "url": "https://glygen.org/publication/PubMed/24129315" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "AHCYL2 (long-IRBIT) as a potential regulator of the electrogenic Na(+)-HCO3(-) cotransporter NBCe1-B.", "journal": "FEBS letters", "date": "2014", "authors": "Yamaguchi S, Ishikawa T", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "24472682", "url": "https://glygen.org/publication/PubMed/24472682" } ] }, { "title": "Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1).", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Lux SE, John KM, Kopito RR, Lodish HF", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "2594752", "url": "https://glygen.org/publication/PubMed/2594752" } ] }, { "title": "Cloning and structural characterization of a human non-erythroid band 3-like protein.", "journal": "EMBO J.", "date": "1986", "authors": "Demuth DR, Showe LC, Ballantine M, Palumbo A, Fraser PJ, Cioe L, Rovera G, Curtis PJ", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" }, { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "3015590", "url": "https://glygen.org/publication/PubMed/3015590" } ] }, { "title": "SLC4A2 anion exchanger promotes tumour cell malignancy via enhancing net acid efflux across golgi membranes.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2021", "authors": "Khosrowabadi E, Rivinoja A, Risteli M, Tuomisto A, Salo T, Makinen MJ, Kellokumpu S", "evidence": [ { "database": "RefSeq", "id": "NP_001186621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621" } ], "reference": [ { "type": "PubMed", "id": "34279699", "url": "https://glygen.org/publication/PubMed/34279699" } ] }, { "title": "SLC4A2 Deficiency Causes a New Type of Osteopetrosis.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2022", "authors": "Xue JY, Grigelioniene G, Wang Z, Nishimura G, Iida A, Matsumoto N, Tham E, Miyake N, Ikegawa S, Guo L", "evidence": [ { "database": "UniProtKB", "id": "P04920", "url": "https://www.uniprot.org/uniprot/P04920" } ], "reference": [ { "type": "PubMed", "id": "34668226", "url": "https://glygen.org/publication/PubMed/34668226" } ] }, { "title": "Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.", "journal": "Cells", "date": "2021", "authors": "Calvete O, Reyes J, Valdes-Socin H, Martin P, Marazuela M, Barroso A, Escalada J, Castells A, Torres-Ruiz R, Rodriguez-Perales S, Curras-Freixes M, Benitez J", "evidence": [ { "database": "RefSeq", "id": "NP_001186621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621" } ], "reference": [ { "type": "PubMed", "id": "34944008", "url": "https://glygen.org/publication/PubMed/34944008" } ] }, { "title": "SLC4A2, another gene involved in acid-base balancing machinery of osteoclasts, causes osteopetrosis.", "journal": "Bone", "date": "2022-11-04", "authors": "Xue Jing-Yi, Ikegawa Shiro, Guo Long", "evidence": [ { "database": "RefSeq", "id": "NP_001186621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621" } ], "reference": [ { "type": "PubMed", "id": "36343920", "url": "https://glygen.org/publication/PubMed/36343920" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04920", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04920" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Acid-adapted cancer cells alkalinize their cytoplasm by degrading the acid-loading membrane transporter anion exchanger 2, SLC4A2.", "journal": "Cell reports", "date": "2023-06-03", "authors": "Michl Johanna, Monterisi Stefania, White Bobby, Blaszczak Wiktoria, Hulikova Alzbeta, Abdullayeva Gulnar, Bridges Esther, Yin Zinan, Bodmer Walter F, Swietach Pawel", "evidence": [ { "database": "RefSeq", "id": "NP_001186621", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001186621" } ], "reference": [ { "type": "PubMed", "id": "37270778", "url": "https://glygen.org/publication/PubMed/37270778" } ] }, { "title": "Anion exchanger 1 in human kidney and oncocytoma differs from erythroid AE1 in its NH2 terminus.", "journal": "The American journal of physiology", "date": "1993", "authors": "Kollert-Jons A, Wagner S, Hubner S, Appelhans H, Drenckhahn D", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "7506871", "url": "https://glygen.org/publication/PubMed/7506871" } ] }, { "title": "Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.", "journal": "Blood", "date": "1995", "authors": "Jarolim P, Rubin HL, Brabec V, Chrobak L, Zolotarev AS, Alper SL, Brugnara C, Wichterle H, Palek J", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "7530501", "url": "https://glygen.org/publication/PubMed/7530501" } ] }, { "title": "Molecular cloning, expression, and chromosomal localization of two isoforms of the AE3 anion exchanger from human heart.", "journal": "Circulation research", "date": "1994", "authors": "Yannoukakos D, Stuart-Tilley A, Fernandez HA, Fey P, Duyk G, Alper SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "7923606", "url": "https://glygen.org/publication/PubMed/7923606" } ] }, { "title": "Band 3 Memphis variant II. 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"Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "9312167", "url": "https://glygen.org/publication/PubMed/9312167" } ] }, { "title": "Molecular cloning, chromosomal localization, tissue distribution, and functional expression of the human pancreatic sodium bicarbonate cotransporter.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Abuladze N, Lee I, Newman D, Hwang J, Boorer K, Pushkin A, Kurtz I", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { 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