{ "uniprot_canonical_ac": "O60462-1", "uniprot_ac": "O60462", "uniprot_id": "NRP2_HUMAN", "mass": { "chemical_mass": 104831.0, "monoisotopic_mass": 104831.0 }, "refseq": { "ac": "NP_003863", "name": "neuropilin-2 isoform 2 precursor", "summary": "This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. This protein has also been determined to act as a co-receptor for SARS-CoV-2 (which causes COVID-19) to infect host cells. [provided by RefSeq, Jul 2021].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863" }, "gene_names": [ { "name": "NRP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60462", "id": "O60462" }, { "name": "NP2; NPN2; PRO2714; VEGF165R2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863", "id": "NP_003863" }, { "name": "NRP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863", "id": "NP_003863" }, { "name": "VEGF165R2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60462", "id": "O60462" } ], "protein_names": [ { "name": "Neuropilin-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60462" }, { "name": "Vascular endothelial cell growth factor 165 receptor 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60462" }, { "name": "neuropilin-2 isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863", "id": "NP_003863" }, { "name": "neuropilin-2b(0); receptor for VEGF165 and semaphorins class3; neuropilin-2a(17); neuropilin-2a(22); vascular endothelial cell growth factor 165 receptor 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863", "id": "NP_003863" } ], "function": [ { "annotation": "(Microbial infection) Acts as a receptor for human cytomegalovirus pentamer-dependent entry in epithelial and endothelial cells.", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462#function" }, { "database": "PubMed", "id": "30057110", "url": "https://glygen.org/publication/PubMed/30057110" } ] }, { "annotation": "Adipose-derived mesenchymal stem cells-sourced exosomal microRNA-7846-3p suppresses proliferation and pro-angiogenic role of keloid fibroblasts by suppressing neuropilin 2.", "evidence": [ { "database": "RefSeq", "id": "NP_003863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863" }, { "database": "PubMed", "id": "37025072", "url": "https://glygen.org/publication/PubMed/37025072" } ] }, { "annotation": "Association of plasma NRP2 and VEGF-C levels with prostate cancer disease severity.", "evidence": [ { "database": "RefSeq", "id": "NP_003863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863" }, { "database": "PubMed", "id": "37942701", "url": "https://glygen.org/publication/PubMed/37942701" } ] }, { "annotation": "CircPI4KA Overexpression Enhances Carcinogenesis and Glycolysis Metabolism in Papillary Thyroid Carcinoma by Causing the miR-1287-5p-Mediated NRP2 Expression Elevation.", "evidence": [ { "database": "RefSeq", "id": "NP_003863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863" }, { "database": "PubMed", "id": "37813099", "url": "https://glygen.org/publication/PubMed/37813099" } ] }, { "annotation": "High affinity receptor for semaphorins 3C, 3F, VEGF-165 and VEGF-145 isoforms of VEGF, and the PLGF-2 isoform of PGF.", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462#function" } ] }, { "annotation": "The activation of TGF-beta signaling promotes cell migration and invasion of ectopic endometrium by targeting NRP2.", "evidence": [ { "database": "RefSeq", "id": "NP_003863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863" }, { "database": "PubMed", "id": "36306654", "url": "https://glygen.org/publication/PubMed/36306654" } ] }, { "annotation": "This gene encodes a member of the neuropilin family of receptor proteins. The encoded transmembrane protein binds to SEMA3C protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C} and SEMA3F protein {sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F}, and interacts with vascular endothelial growth factor (VEGF). This protein may play a role in cardiovascular development, axon guidance, and tumorigenesis. This protein has also been determined to act as a co-receptor for SARS-CoV-2 (which causes COVID-19) to infect host cells. [provided by RefSeq, Jul 2021].", "evidence": [ { "database": "RefSeq", "id": "NP_003863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863" } ] }, { "annotation": "Tumor Necrosis Factor and Interleukin-1beta Upregulate NRP2 Expression and Promote SARS-CoV-2 Proliferation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863" }, { "database": "PubMed", "id": "37515185", "url": "https://glygen.org/publication/PubMed/37515185" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1277075217", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1277075217" }, { "id": "rs1277075217", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1277075217#frequency_tab" }, { "id": "rs1277075217", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1277075217" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 672, "end_pos": 672, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS); o-glyco-site-loss (S->N).", "chr_id": "2", "chr_pos": "205752946", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S672", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60462", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60462" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 109, "end_pos": 109, "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 (NIA->NIT).", "chr_id": "2", "chr_pos": "205716266", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A109", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1575587355", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575587355" }, { "id": "rs1575587355", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1575587355" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 152, "end_pos": 152, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NFT->TFT).", "chr_id": "2", "chr_pos": "205722499", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N152", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs984744839", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs984744839" }, { "id": "rs984744839", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs984744839" } ], "glycoeffect": 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"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", 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"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": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O60462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60462" } ], "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": 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"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 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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": 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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": "No", "trend": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "O60462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60462" } ], "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", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial 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": "O60462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60462" } ], "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/O60462" } ], "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": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"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": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Esophageal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:5041", "evidence": [ { "database": "BioXpress", "id": "O60462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60462" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": 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Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant tumor of the middle Third of the esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal cancer", "description": "A primary or metastatic malignant neoplasm involving the esophagus." }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of esophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "cancer of oesophagus", "description": "" }, { "id": "MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "esophageal 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"R-HSA-194306", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194306", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-447038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-447038", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003863", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003863", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O60462", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "C9JH98", "url": "https://www.uniprot.org/uniprot/C9JH98", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JH98-1", "url": "https://www.uniprot.org/uniprot/C9JH98-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60462-1", "url": "https://www.uniprot.org/uniprot/O60462-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60462-2", "url": "https://www.uniprot.org/uniprot/O60462-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60462-3", "url": "https://www.uniprot.org/uniprot/O60462-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60462-4", "url": "https://www.uniprot.org/uniprot/O60462-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60462-5", "url": "https://www.uniprot.org/uniprot/O60462-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60462-6", "url": "https://www.uniprot.org/uniprot/O60462-6", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADLLGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDPLQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYSDGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHAPLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKGVIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPTVETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYARLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENCMEPISAFAGENFKVDIPEIHEREGYEDEIDDEYEVDWSNSSSATSGSGAPSTDKEKSWLYTLDPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSRSCTTLENYNFELYDGLKHKVKMNHQKCCSEA", "length": 931, "header": "sp|O60462-1|NRP2_HUMAN Isoform 1 of Neuropilin-2 OS=Homo sapiens OX=9606 GN=NRP2 PE=1 SV=3 CANONICAL=O60462-1" }, "isoforms": [ { "isoform_ac": "C9JH98-1", "url": "", "sequence": { "sequence": "MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADLL", "length": 101, "header": "tr|C9JH98-1|C9JH98_HUMAN Computationally mapped isoform of Neuropilin 2 OS=Homo sapiens OX=9606 GN=NRP2 PE=1 SV=8 CANONICAL=O60462-1" }, "locus": { "chromosome": "2", "start_pos": 205716244, "end_pos": 205683291, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450507.5", "url": "https://www.ensembl.org/id/ENST00000450507.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000404279.1", "url": "https://www.ensembl.org/id/ENSP00000404279.1" } ] } }, { "isoform_ac": "O60462-1", "url": "", "sequence": { "sequence": "MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADLLGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDPLQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYSDGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHAPLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKGVIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPTVETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYARLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENCMEPISAFAGENFKVDIPEIHEREGYEDEIDDEYEVDWSNSSSATSGSGAPSTDKEKSWLYTLDPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSRSCTTLENYNFELYDGLKHKVKMNHQKCCSEA", "length": 931, "header": "sp|O60462-1|NRP2_HUMAN Isoform 1 of Neuropilin-2 OS=Homo sapiens OX=9606 GN=NRP2 PE=1 SV=3 CANONICAL=O60462-1" }, "locus": { "chromosome": "2", "start_pos": 205795055, "end_pos": 205683291, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000360409.7", "url": "https://www.ensembl.org/id/ENST00000360409.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000353582.3", "url": "https://www.ensembl.org/id/ENSP00000353582.3" } ] } }, { "isoform_ac": "O60462-2", "url": "", "sequence": { "sequence": "MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADLLGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDPLQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYSDGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHAPLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKGVIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPTVETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYARLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENCMEPISAFADEYEVDWSNSSSATSGSGAPSTDKEKSWLYTLDPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSRSCTTLENYNFELYDGLKHKVKMNHQKCCSEA", "length": 909, "header": "sp|O60462-2|NRP2_HUMAN Isoform 2 of Neuropilin-2 OS=Homo sapiens OX=9606 GN=NRP2 PE=1 SV=3 CANONICAL=O60462-1" }, "locus": { "chromosome": "2", "start_pos": 205795055, "end_pos": 205683291, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412873.2", "url": "https://www.ensembl.org/id/ENST00000412873.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000407626.2", "url": "https://www.ensembl.org/id/ENSP00000407626.2" } ] } }, { "isoform_ac": "O60462-3", "url": "", "sequence": { "sequence": "MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADLLGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDPLQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYSDGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHAPLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKGVIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPTVETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYARLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENCMEPISAFAVDIPEIHEREGYEDEIDDEYEVDWSNSSSATSGSGAPSTDKEKSWLYTLDPILITIIAMSSLGVLLGATCAGLLLYCTCSYSGLSSRSCTTLENYNFELYDGLKHKVKMNHQKCCSEA", "length": 926, "header": "sp|O60462-3|NRP2_HUMAN Isoform 3 of Neuropilin-2 OS=Homo sapiens OX=9606 GN=NRP2 PE=1 SV=3 CANONICAL=O60462-1" }, "locus": { "chromosome": "2", "start_pos": 205795055, "end_pos": 205683291, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357785.10", "url": "https://www.ensembl.org/id/ENST00000357785.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000350432.5", "url": "https://www.ensembl.org/id/ENSP00000350432.5" } ] } }, { "isoform_ac": "O60462-4", "url": "", "sequence": { "sequence": "MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADLLGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDPLQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYSDGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHAPLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKGVIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPTVETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYARLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENCMEPISAFAGGTLLPGTEPTVDTVPMQPIPAYWYYVMAAGGAVLVLVSVALALVLHYHRFRYAAKKTDHSITYKTSHYTNGAPLAVEPTLTIKLEQDRGSHC", "length": 901, "header": "sp|O60462-4|NRP2_HUMAN Isoform 4 of Neuropilin-2 OS=Homo sapiens OX=9606 GN=NRP2 PE=1 SV=3 CANONICAL=O60462-1" }, "locus": { "chromosome": "2", "start_pos": 205776523, "end_pos": 205683291, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000357118.8", "url": "https://www.ensembl.org/id/ENST00000357118.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000349632.4", "url": "https://www.ensembl.org/id/ENSP00000349632.4" } ] } }, { "isoform_ac": "O60462-5", "url": "", "sequence": { "sequence": "MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADLLGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDPLQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYSDGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHAPLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKGVIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKLFEGNMHYDTPDIRRFDPIPAQYVRVYPERWSPAGIGMRLEVLGCDWTDSKPTVETLGPTVKSEETTTPYPTEEEATECGENCSFEDDKDLQLPSGFNCNFDFLEEPCGWMYDHAKWLRTTWASSSSPNDRTFPDDRNFLRLQSDSQREGQYARLISPPVHLPRSPVCMEFQYQATGGRGVALQVVREASQESKLLWVIREDQGGEWKHGRIILPSYDMEYQIVFEGVIGKGRSGEIAIDDIRISTDVPLENCMEPISAFAGENFKGGTLLPGTEPTVDTVPMQPIPAYWYYVMAAGGAVLVLVSVALALVLHYHRFRYAAKKTDHSITYKTSHYTNGAPLAVEPTLTIKLEQDRGSHC", "length": 906, "header": "sp|O60462-5|NRP2_HUMAN Isoform 5 of Neuropilin-2 OS=Homo sapiens OX=9606 GN=NRP2 PE=1 SV=3 CANONICAL=O60462-1" }, "locus": { "chromosome": "2", "start_pos": 205776523, "end_pos": 205683291, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000272849.7", "url": "https://www.ensembl.org/id/ENST00000272849.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000272849.3", "url": "https://www.ensembl.org/id/ENSP00000272849.3" } ] } }, { "isoform_ac": "O60462-6", "url": "", "sequence": { "sequence": "MDMFPLTWVFLALYFSRHQVRGQPDPPCGGRLNSKDAGYITSPGYPQDYPSHQNCEWIVYAPEPNQKIVLNFNPHFEIEKHDCKYDFIEIRDGDSESADLLGKHCGNIAPPTIISSGSMLYIKFTSDYARQGAGFSLRYEIFKTGSEDCSKNFTSPNGTIESPGFPEKYPHNLDCTFTILAKPKMEIILQFLIFDLEHDPLQVGEGDCKYDWLDIWDGIPHVGPLIGKYCGTKTPSELRSSTGILSLTFHTDMAVAKDGFSARYYLVHQEPLENFQCNVPLGMESGRIANEQISASSTYSDGRWTPQQSRLHGDDNGWTPNLDSNKEYLQVDLRFLTMLTAIATQGAISRETQNGYYVKSYKLEVSTNGEDWMVYRHGKNHKVFQANNDATEVVLNKLHAPLLTRFVRIRPQTWHSGIALRLELFGCRVTDAPCSNMLGMLSGLIADSQISASSTQEYLWSPSAARLVSSRSGWFPRIPQAQPGEEWLQVDLGTPKTVKGVIIQGARGGDSITAVEARAFVRKFKVSYSLNGKDWEYIQDPRTQQPKVGCSWRPL", "length": 555, "header": "sp|O60462-6|NRP2_HUMAN Isoform 6 of Neuropilin-2 OS=Homo sapiens OX=9606 GN=NRP2 PE=1 SV=3 CANONICAL=O60462-1" }, "locus": { "chromosome": "2", "start_pos": 205743576, "end_pos": 205683291, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417189.5", "url": "https://www.ensembl.org/id/ENST00000417189.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000387519.1", "url": "https://www.ensembl.org/id/ENSP00000387519.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 152, "start_aa": "Asn", "end_pos": 152, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn152", "evidence": [ { "id": "O60462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60462#ptm_processing" }, { "id": "17989695", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17989695" }, { "id": "2QQK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2QQK" }, { "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": 157, "start_aa": "Asn", "end_pos": 157, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn157", "evidence": [ { "id": "O60462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60462#ptm_processing" }, { "id": "17989695", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17989695" }, { "id": "2QQK", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/2QQK" }, { "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": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "LEVLGCDWTDSKPTVETLGPTVK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 587, "start_aa": "Leu", "end_pos": 609, "end_aa": "Lys", "evidence": [ { "id": "O60462", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 595, "start_aa": "Thr", "end_pos": 595, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr595", "evidence": [ { "id": "O60462", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", 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"name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8828", "resource": "KEGG Pathway" }, { "id": "R-HSA-194306", "name": "Neurophilin interactions with VEGF and VEGFR", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194306", "resource": "Reactome", "description": "Neurophilin interactions with VEGF and VEGFR" }, { "id": "R-HSA-447038", "name": "NrCAM interactions", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-447038", "resource": "Reactome", "description": "NrCAM interactions" } ], "orthologs": [ { "uniprot_canonical_ac": "O35276-1", "protein_name": "Neuropilin-2", "gene_name": "Nrp2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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projection extension", "id": "GO:0097490", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097490", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "sympathetic neuron projection guidance", "id": "GO:0097491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097491", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "angiogenesis", "id": "GO:0001525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001525", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "semaphorin-plexin signaling pathway", "id": "GO:0071526", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0097374", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "outflow tract septum morphogenesis", "id": "GO:0003148", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003148", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "trigeminal nerve structural organization", "id": "GO:0021637", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021637", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "vestibulocochlear nerve structural organization", "id": "GO:0021649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021649", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "branchiomotor neuron axon guidance", "id": "GO:0021785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021785", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "gonadotrophin-releasing hormone neuronal migration to the hypothalamus", "id": "GO:0021828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021828", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "ventral trunk neural crest cell migration", "id": "GO:0036486", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036486", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "trigeminal ganglion development", "id": "GO:0061551", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0061551", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "neural 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"https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "facial nerve structural organization", "id": "GO:0021612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021612", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "regulation of postsynapse organization", "id": "GO:0099175", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099175", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 8, "go_terms": [ { "name": "heparin binding", "id": "GO:0008201", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008201", "evidence": [ { "database": "UniProtKB", "id": "O60462", "url": "https://www.uniprot.org/uniprot/O60462" } ], "pmid": "" }, { "name": "growth factor binding", "id": "GO:0019838", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019838", "evidence": [ { "database": 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