{ "uniprot_canonical_ac": "Q9P225-1", "uniprot_ac": "Q9P225", "uniprot_id": "DYH2_HUMAN", "mass": { "chemical_mass": 507698.0, "monoisotopic_mass": 507698.0 }, "refseq": { "ac": "NP_001290199", "name": "dynein axonemal heavy chain 2 isoform 2", "summary": "Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290199" }, "gene_names": [ { "name": "DNAH2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9P225", "id": "Q9P225" }, { "name": "DNAH2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290199", "id": "NP_001290199" }, { "name": "DNAHC2; DNHD3; SPGF45", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290199", "id": "NP_001290199" }, { "name": "DNAHC2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9P225", "id": "Q9P225" }, { "name": "DNHD3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9P225", "id": "Q9P225" }, { "name": "KIAA1503", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9P225", "id": "Q9P225" } ], "protein_names": [ { "name": "Dynein axonemal heavy chain 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9P225" }, { "name": "Axonemal beta dynein heavy chain 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9P225" }, { "name": "Ciliary dynein heavy chain 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9P225" }, { "name": "Dynein heavy chain domain-containing protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9P225" }, { "name": "dynein axonemal heavy chain 2 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290199", "id": "NP_001290199" }, { "name": "dynein, axonemal, heavy polypeptide 2; dynein heavy chain 2, axonemal; ciliary dynein heavy chain 2; axonemal beta dynein heavy chain 2; dynein heavy chain domain-containing protein 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290199", "id": "NP_001290199" } ], "function": [ { "annotation": "As part of the axonemal inner dynein arm complex plays a central role in ciliary beat (PubMed:30811583). Expressed in sperm flagellum, it is required for sperm motility (PubMed:30811583). Dyneins are microtubule-based molecular motors possessing ATPase activities that can convert the chemical energy of ATP into relative sliding between adjacent microtubule doublets to generate ciliary bending (PubMed:30811583).", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225#function" }, { "database": "PubMed", "id": "30811583", "url": "https://glygen.org/publication/PubMed/30811583" } ] }, { "annotation": "Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001290199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290199" } ] }, { "annotation": "Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella.", "evidence": [ { "database": "RefSeq", "id": "NP_001290199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290199" }, { "database": "PubMed", "id": "33771466", "url": "https://glygen.org/publication/PubMed/33771466" } ] }, { "annotation": "The DNAH2 mutation can cause severe sperm flagella defects that damage sperm motility.", "evidence": [ { "database": "RefSeq", "id": "NP_001290199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290199" }, { "database": "PubMed", "id": "30811583", "url": "https://glygen.org/publication/PubMed/30811583" } ] } ], "disease": [ { "disease_id": "DOID:0112163", "recommended_name": { "id": "DOID:0112163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112163", "name": "spermatogenic failure 45", "description": "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1." }, "synonyms": [ { "id": "DOID:0112163", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112163", "name": "SPGF45", "description": "" }, { "id": "MONDO:0033671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033671", "name": "spermatogenic failure 45", "description": "" }, { "id": "MONDO:0033671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0033671", "name": "SPGF45", "description": "" }, { "id": "MIM:619094", "resource": "MIM", "url": "https://www.omim.org/entry/619094", "name": "Spermatogenic failure 45", "description": "Spermatogenic failure 45" } ], "evidence": [ { "id": "619094", "database": "MIM", "url": "https://www.omim.org/entry/619094" } ] } ], "snv": [ { "evidence": [ { "id": "Q9P225", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9P225" } ], "glycoeffect": [], "start_pos": 1168, "end_pos": 1168, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "7765556", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E1168", "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: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 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"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" } ] }, { "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, 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "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": "Q9P225", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9P225" } ], "glycoeffect": [], "start_pos": 1917, "end_pos": 1917, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "7780183", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E1917", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": 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"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", 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"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 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"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", 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"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": "" 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"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": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q9P225", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P225" } ], "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": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q9P225", "url": 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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": "Q9P225", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P225" } ], "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": "" }, 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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": "No", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "Q9P225", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9P225" } ], "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/Q9P225" } ], "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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"Organism-specific", "Protein" ] }, { "id": "Q9P225", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9P225", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ILKNDMQ", "url": "https://omabrowser.org/oma/group/ILKNDMQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "166463at2759", "url": "http://www.orthodb.org/?query=166463at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22878", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22878", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22878:SF62", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22878:SF62", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45703", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45703", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR45703:SF32", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR45703:SF32", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03028", "url": "http://pfam.xfam.org/family/PF03028", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08385", "url": "http://pfam.xfam.org/family/PF08385", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08393", "url": "http://pfam.xfam.org/family/PF08393", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12774", "url": "http://pfam.xfam.org/family/PF12774", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12775", "url": "http://pfam.xfam.org/family/PF12775", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12777", "url": "http://pfam.xfam.org/family/PF12777", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12780", "url": "http://pfam.xfam.org/family/PF12780", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF12781", "url": "http://pfam.xfam.org/family/PF12781", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17852", "url": "http://pfam.xfam.org/family/PF17852", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17857", "url": "http://pfam.xfam.org/family/PF17857", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF18198", "url": "http://pfam.xfam.org/family/PF18198", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF18199", "url": "http://pfam.xfam.org/family/PF18199", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q9P225", "url": "https://pharos.nih.gov/targets/Q9P225", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q9P225", "url": "http://purl.obolibrary.org/obo/PR_Q9P225", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001290199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290199", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "I3L4H9", "url": "https://www.uniprot.org/uniprot/I3L4H9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L4H9-1", "url": "https://www.uniprot.org/uniprot/I3L4H9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L520", "url": "https://www.uniprot.org/uniprot/I3L520", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "I3L520-1", "url": "https://www.uniprot.org/uniprot/I3L520-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9P225-1", "url": "https://www.uniprot.org/uniprot/Q9P225-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9P225-2", "url": "https://www.uniprot.org/uniprot/Q9P225-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9P225-3", "url": "https://www.uniprot.org/uniprot/Q9P225-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSSKAEKKQRLSGRGSSQASWSGRATRAAVATQEQGNAPAVSEPELQAELPKEEPEPRLEGPQAQSEESVEPEADVKPLFLSRAALTGLADAVWTQEHDAILEHFAQDPTESILTIFIDPCFGLKLELGMPVQTQNQLVYFIRQAPVPITWENFEATVQFGTVRGPYIPALLRLLGGVFAPQIFANTGWPESIRNHFASHLHKFLACLTDTRYKLEGHTVLYIPAEAMNMKPEMVIKDKELVQRLETSMIHWTRQIKEMLSAQETVETGENLGPLEEIEFWRNRCMDLSGISKQLVKKGVKHVESILHLAKSSYLAPFMKLAQQIQDGSRQAQSNLTFLSILKEPYQELAFMKPKDISSKLPKLISLIRIIWVNSPHYNTRERLTSLFRKVCDCQYHFARWEDGKQGPLPCFFGAQGPQITRNLLEIEDIFHKNLHTLRAVRGGILDVKNTCWHEDYNKFRAGIKDLEVMTQNLITSAFELVRDVPHGVLLLDTFHRLASREAIKRTYDKKAVDLYMLFNSELALVNRERNKKWPDLEPYVAQYSGKARWVHILRRRIDRVMTCLAGAHFLPRIGTGKESVHTYQQMVQAIDELVRKTFQEWTSSLDKDCIRRLDTPLLRISQEKAGMLDVNFDKSLLILFAEIDYWERLLFETPHYVVNVAERAEDLRILRENLLLVARDYNRIIAMLSPDEQALFKERIRLLDKKIHPGLKKLHWALKGASAFFITECRIHASKVQMIVNEFKASTLTIGWRAQEMSEKLLVRISGKRVYRDLEFEEDQREHRAAVQQKLMNLHQDVVTIMTNSYEVFKNDGPEIQQQWMLYMIRLDRMMEDALRLNVKWSLLELSKAINGDGKTSPNPLFQVLVILKNDLQGSVAQVEFSPTLQTLAGVVNDIGNHLFSTISVFCHLPDILTKRKLHREPIQTVVEQDEDIKKIQTQISSGMTNNASLLQNYLKTWDMYREIWEINKDSFIHRYQRLNPPVSSFVADIARYTEVANNVQKEETVTNIQFVLLDCSHLKFSLVQHCNEWQNKFATLLREMAAGRLLELHTYLKENAEKISRPPQTLEELGVSLQLVDALKHDLANVETQIPPIHEQFAILEKYEVPVEDSVLEMLDSLNGEWVVFQQTLLDSKQMLKKHKEKFKTGLIHSADDFKKKAHTLLEDFEFKGHFTSNVGYMSALDQITQVRAMLMAMREEENSLRANLGIFKIEQPPSKDLQNLEKELDALQQIWEIARDWEENWNEWKTGRFLILQTETMETTAHGLFRRLTKLAKEYKDRNWEIIETTRSKIEQFKRTMPLISDLRNPALRERHWDQVRDEIQREFDQESESFTLEQIVELGMDQHVEKIGEISASATKELAIEVALQNIAKTWDVTQLDIVPYKDKGHHRLRGTEEVFQALEDNQVALSTMKASRFVKAFEKDVDHWERCLSLILEVIEMILTVQRQWMYLENIFLGEDIRKQLPNESTLFDQVNSNWKAIMDRMNKDNNALRSTHHPGLLDTLIEMNTILEDIQKSLDMYLETKRHIFPRFYFLSNDDLLEILGQSRNPEAVQPHLKKCFDNIKLLRIQKVGGPSSKWEAVGMFSGDGEYIDFLHSVFLEGPVESWLGDVEQTMRVTLRDLLRNCHLALRKFLNKRDKWVKEWAGQVVITASQIQWTADVTKCLLTAKERADKKILKVMKKNQVSILNKYSEAIRGNLTKIMRLKIVALVTIEIHARDVLEKLYKSGLMDVNSFDWLSQLRFYWEKDLDDCVIRQTNTQFQYNYEYLGNSGRLVITPLTDRCYMTLTTALHLHRGGSPKGPAGTGKTETVKDLGKALGIYVIVVNCSEGLDYKSMGRMYSGLAQTGAWGCFDEFNRINIEVLSVVAHQILCILSALAAGLTHFHFDGFEINLVWSCGIFITMNPGYAGRTELPENLKSMFRPIAMVVPDSTLIAEIILFGEGFGNCKILAKKVYTLYSLAVQQLSRQDHYDFGLRALTSLLRYAGKKRRLQPDLTDEEVLLLSMRDMNIAKLTSVDAPLFNAIVQDLFPNIELPVIDYGKLRETVEQEIRDMGLQSTPFTLTKVFQLYETKNSRHSTMIVGCTGSGKTASWRILQASLSSLCRAGDPNFNIVREFPLNPKALSLGELYGEYDLSTNEWTDGILSSVMRTACADEKPDEKWILFDGPVDTLWIENMNSVMDDNKVLTLINGERIAMPEQVSLLFEVEDLAMASPATVSRCGMVYTDYADLGWKPYVQSWLEKRPKAEVEPLQRMFEKLINKMLAFKKDNCKELVPLPEYSGITSLCKLYSALATPENGVNPADGENYVTMVEMTFVFSMIWSVCASVDEEGRKRIDSYLREIEGSFPNKDTVYEYFVDPKIRSWTSFEDKLPKSWRYPPNAPFYKIMVPTVDTVRYNYLVSSLVANQNPILLVGPVGTGKTSIAQSVLQSLPSSQWSVLVVNMSAQTTSNNVQSIIESRVEKRTKGVYVPFGGKSMITFMDDLNMPAKDMFGSQPPLELIRLWIDYGFWYDRTKQTIKYIREMFLMAAMGPPGGGRTVISPRLRSRFNIINMTFPTKSQIIRIFGTMINQKLQDFEEEVKPIGNVVTEATLDMYNTVVQRFLPTPTKMHYLFNLRDISKVFQGMLRANKDFHDTKSSITRLWIHECFRVFSDRLVDAADTEAFMGIISDKLGSFFDLTFHHLCPSKRPPIFGDFLKEPKVYEDLTDLTVLKTVMETALNEYNLSPSVVPMQLVLFREAIEHITRIVRVIGQPRGNMLLVGIGGSGRQSLARLASSICDYTTFQIEVTKHYRKQEFRDDIKRLYRQAGVELKTTSFIFVDTQIADESFLEDINNILSSGEVPNLYKPDEFEEIQSHIIDQARVEQVPESSDSLFAYLIERVQNNLHIVLCLSPMGDPFRNWIRQYPALVNCTTINWFSEWPQEALLEVAEKCLIGVDLGTQENIHRKVAQIFVTMHWSVAQYSQKMLLELRRHNYVTPTKYLELLSGYKKLLGEKRQELLAQANKLRTGLFKIDETREKVQVMSLELEDAKKKVAEFQKQCEEYLVIIVQQKREADEQQKAVTANSEKIAVEEIKCQALADNAQKDLEEALPALEEAMRALESLNKKDIGEIKSYGRPPAQVEIVMQAVMILRGNEPTWAEAKRQLGEQNFIKSLINFDKDNISDKVLKKIGAYCAQPDFQPDIIGRVSLAAKSLCMWVRAMELYGRLYRVVEPKRIRMNAALAQLREKQAALAEAQEKLREVAEKLEMLKKQYDEKLAQKEELRKKSEEMELKLERAGMLVSGLAGEKARWEETVQGLEEDLGYLVGDCLLAAAFLSYMGPFLTNYRDEIVNQIWIGKIWELQVPCSPSFAIDNFLCNPTKVRDWNIQGLPSDAFSTENGIIVTRGNRWALMIDPQAQALKWIKNMEGGQGLKIIDLQMSDYLRILEHAIHFGYPVLLQNVQEYLDPTLNPMLNKSVARIGGRLLMRIGDKEVEYNTNFRFYITTKLSNPHYSPETSAKTTIVNFAVKEQGLEAQLLGIVVRKERPELEEQKDSLVINIAAGKRKLKELEDEILRLLNEATGSLLDDVQLVNTLHTSKITATEVTEQLETSETTEINTDLAREAYRPCAQRASILFFVLNDMGCIDPMYQFSLDAYISLFILSIDKSHRSNKLEDRIDYLNDYHTYAVYRYTCRTLFERHKLLFSFHMCAKILETSGKLNMDEYNFFLRGGVVLDREGQMDNPCSSWLADAYWDNITELDKLTNFHGLMNSFEQYPRDWHLWYTNAAPEKAMLPGEWENACNEMQRMLIVRSLRQDRVAFCVTSFIITNLGSRFIEPPVLNMKSVLEDSTPRSPLVFILSPGVDPTSALLQLAEHMGMAQRFHALSLGQGQAPIAARLLREGVTQGHWVFLANCHLSLSWMPNLDKLVEQLQVEDPHPSFRLWLSSIPHPDFPISILQVSIKMTTEPPKGLKANMTRLYQLMSEPQFSRCSKPAKYKKLLFSLCFFHSVLLERKKFLQLGWNIIYGFNDSDFEVSENLLSLYLDEYEETPWDALKYLIAGINYGGHVTDDWDRRLLTTYINDYFCDQSLSTPFHRLSALETYFIPKDGSLASYKEYISLLPGMDPPEAFGQHPNADVASQITEAQTLFDTLLSLQPQITPTRAGGQTREEKVLELAADVKQKIPEMIDYEGTQKLLALDPSPLNVVLLQEIQRYNTLMQTILFSLTDLEKGIQGLIVMSTSLEEIFNCIFDAHVPPLWGKAYPSQKPLAAWTRDLAMRVEQFELWASRARPPVIFWLSGFTFPTGFLTAVLQSSARQNNVSVDSLSWEFIVSTVDDSNLVYPPKDGVWVRGLYLEGAGWDRKNSCLVEAEPMQLVCLMPTIHFRPAESRKKSAKGMYSCPCYYYPNRAGSSDRASFVIGIDLRSGAMTPDHWIKRGTALLMSLDS", "length": 4427, "header": "sp|Q9P225-1|DYH2_HUMAN Isoform 1 of Dynein axonemal heavy chain 2 OS=Homo sapiens OX=9606 GN=DNAH2 PE=1 SV=3 CANONICAL=Q9P225-1" }, "isoforms": [ { "isoform_ac": "I3L4H9-1", "url": "", "sequence": { "sequence": "XDEDIKKIQTQISSGMTNNASLLQNYLKTWDMYREIWEINKDSFIHRYQRLNPPVSSFVADIARYTEVANNVQKEETVTNIQFVLLDCSHLKFSLVQHCNEWQNKFATLLREMAAGRLLELHTYLKENAEKISRPPQTLEELGVSLQLVDALKHDLANVETQIPPIHEQFAILEKYEVPVEDSVLEMLDSLNGEWVVFQQTLLDSKQMLKKHKEKFKTGLIHSADDFKKKAHTLLEDFEFKGARCPPANLGDRTRLGGELE", "length": 261, "header": "tr|I3L4H9-1|DYH2_HUMAN Computationally mapped isoform of Dynein axonemal heavy chain 2 OS=Homo sapiens OX=9606 GN=DNAH2 PE=1 SV=1 CANONICAL=Q9P225-1" }, "locus": { "chromosome": "17", "start_pos": 7767960, "end_pos": 7760744, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000574518.1", "url": "https://www.ensembl.org/id/ENST00000574518.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000461273.1", "url": "https://www.ensembl.org/id/ENSP00000461273.1" } ] } }, { "isoform_ac": "I3L520-1", "url": "", "sequence": { "sequence": "KIDETREKVQVMSLELEDAKKKVAEFQKQCEEYLVIIVQQKREADEQQKALESLNKKDIGEIKSYGRPPAQVEIVMQAVMILRGNEPTWAEAKRQLGEQNFIKSLINFDKDNISDKVLKKIGAYCAQPDFQPDIIGRVSLAAKSLCMWVRAMELYGRLYRVVEPKRIRMNAALAQLREKQAALAEAQEKLREVAEKLEMLKKQYDEKLAQKEELRKKSEEMELKLERAGMLVSGLAGEKARWEETVQGLEEDLGYLVGDCLLAAAFLSYMGPFLTNYRDEIVNQIWIGKIWELQVPCSPSFAIDNFLCNPTKVRDWNIQGLPSDAFSTENGIIVTRGNRWALMIDPQAQALKWIKNMEGGQGLKIIDLQMSDYLRILEHAIHFGYPVLLQNVQEYLDPTLNPMLNKSVARIGGRLLMRIGDKEVEYNTNFRFYITTKLSNPHYSPETSAKTTIVNFAVKEQGLEAQLLGIVVRKERPELEEQKDSLVINIAAGKRKLKELEDEILRLLNEATGSLLDDVQLVNTLHTSKITATEVTEQLETSETTEINTDLAREAYRPCAQRASILFFVLNDMGCIDPMYQFSLDAYISLFILSIDKSHRSNKLEDRIDYLNDYHTYAVYRYTCRTLFERHKLLFSFHMCAKILETSGKLNMDEYNFFLRGGVVLDREGQMDNPCSSWLADAYWDNITELDKLTNFHGLMNSFEQYPRDWHLWYTNAAPEKAMLPGEWENACNEMQRMLIVRSLRQDRVAFCVTSFIITNLGSRFIEPPVLNMKSVLEDSTPRSPLVFILSPGVDPTSALLQLAEHMGMAQRFHALSLGQGQAPIAARLLREGVTQGHWVFLANCHLSLSWMPNLDKLVEQLQVEDPHPSFRLWLSSIPHPDFPISILQVSIKMTTEPPKGLKANMTRLYQLMSEPQFSRCSKPAKYKKLLFSLCFFHSVLLERKKFLQLGWNIIYGFNDSDFEVSENLLSLYLDEYEETPWDALKYLIAGINYGGHVTDDWDRRLLTTYINDYFCDQSLSTPFHRLSALETYFIPKDGSLASYKEYISLLPGMDPPEAFGQHPNADVASQITEAQTLFDTLLSLQPQITPTRAGGQTREEKVLELAADVKQKIPEMIDYEGTQKLLALDPSPLNVVLLQEIQRYNTLMQTILFSLTD", "length": 1158, "header": "tr|I3L520-1|DYH2_HUMAN Computationally mapped isoform of Dynein axonemal heavy chain 2 OS=Homo sapiens OX=9606 GN=DNAH2 PE=1 SV=8 CANONICAL=Q9P225-1" }, "locus": { "chromosome": "17", "start_pos": 7831676, "end_pos": 7804320, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000575105.1", "url": "https://www.ensembl.org/id/ENST00000575105.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000461726.1", "url": "https://www.ensembl.org/id/ENSP00000461726.1" } ] } }, { "isoform_ac": "Q9P225-1", "url": "", "sequence": { "sequence": "MSSKAEKKQRLSGRGSSQASWSGRATRAAVATQEQGNAPAVSEPELQAELPKEEPEPRLEGPQAQSEESVEPEADVKPLFLSRAALTGLADAVWTQEHDAILEHFAQDPTESILTIFIDPCFGLKLELGMPVQTQNQLVYFIRQAPVPITWENFEATVQFGTVRGPYIPALLRLLGGVFAPQIFANTGWPESIRNHFASHLHKFLACLTDTRYKLEGHTVLYIPAEAMNMKPEMVIKDKELVQRLETSMIHWTRQIKEMLSAQETVETGENLGPLEEIEFWRNRCMDLSGISKQLVKKGVKHVESILHLAKSSYLAPFMKLAQQIQDGSRQAQSNLTFLSILKEPYQELAFMKPKDISSKLPKLISLIRIIWVNSPHYNTRERLTSLFRKVCDCQYHFARWEDGKQGPLPCFFGAQGPQITRNLLEIEDIFHKNLHTLRAVRGGILDVKNTCWHEDYNKFRAGIKDLEVMTQNLITSAFELVRDVPHGVLLLDTFHRLASREAIKRTYDKKAVDLYMLFNSELALVNRERNKKWPDLEPYVAQYSGKARWVHILRRRIDRVMTCLAGAHFLPRIGTGKESVHTYQQMVQAIDELVRKTFQEWTSSLDKDCIRRLDTPLLRISQEKAGMLDVNFDKSLLILFAEIDYWERLLFETPHYVVNVAERAEDLRILRENLLLVARDYNRIIAMLSPDEQALFKERIRLLDKKIHPGLKKLHWALKGASAFFITECRIHASKVQMIVNEFKASTLTIGWRAQEMSEKLLVRISGKRVYRDLEFEEDQREHRAAVQQKLMNLHQDVVTIMTNSYEVFKNDGPEIQQQWMLYMIRLDRMMEDALRLNVKWSLLELSKAINGDGKTSPNPLFQVLVILKNDLQGSVAQVEFSPTLQTLAGVVNDIGNHLFSTISVFCHLPDILTKRKLHREPIQTVVEQDEDIKKIQTQISSGMTNNASLLQNYLKTWDMYREIWEINKDSFIHRYQRLNPPVSSFVADIARYTEVANNVQKEETVTNIQFVLLDCSHLKFSLVQHCNEWQNKFATLLREMAAGRLLELHTYLKENAEKISRPPQTLEELGVSLQLVDALKHDLANVETQIPPIHEQFAILEKYEVPVEDSVLEMLDSLNGEWVVFQQTLLDSKQMLKKHKEKFKTGLIHSADDFKKKAHTLLEDFEFKGHFTSNVGYMSALDQITQVRAMLMAMREEENSLRANLGIFKIEQPPSKDLQNLEKELDALQQIWEIARDWEENWNEWKTGRFLILQTETMETTAHGLFRRLTKLAKEYKDRNWEIIETTRSKIEQFKRTMPLISDLRNPALRERHWDQVRDEIQREFDQESESFTLEQIVELGMDQHVEKIGEISASATKELAIEVALQNIAKTWDVTQLDIVPYKDKGHHRLRGTEEVFQALEDNQVALSTMKASRFVKAFEKDVDHWERCLSLILEVIEMILTVQRQWMYLENIFLGEDIRKQLPNESTLFDQVNSNWKAIMDRMNKDNNALRSTHHPGLLDTLIEMNTILEDIQKSLDMYLETKRHIFPRFYFLSNDDLLEILGQSRNPEAVQPHLKKCFDNIKLLRIQKVGGPSSKWEAVGMFSGDGEYIDFLHSVFLEGPVESWLGDVEQTMRVTLRDLLRNCHLALRKFLNKRDKWVKEWAGQVVITASQIQWTADVTKCLLTAKERADKKILKVMKKNQVSILNKYSEAIRGNLTKIMRLKIVALVTIEIHARDVLEKLYKSGLMDVNSFDWLSQLRFYWEKDLDDCVIRQTNTQFQYNYEYLGNSGRLVITPLTDRCYMTLTTALHLHRGGSPKGPAGTGKTETVKDLGKALGIYVIVVNCSEGLDYKSMGRMYSGLAQTGAWGCFDEFNRINIEVLSVVAHQILCILSALAAGLTHFHFDGFEINLVWSCGIFITMNPGYAGRTELPENLKSMFRPIAMVVPDSTLIAEIILFGEGFGNCKILAKKVYTLYSLAVQQLSRQDHYDFGLRALTSLLRYAGKKRRLQPDLTDEEVLLLSMRDMNIAKLTSVDAPLFNAIVQDLFPNIELPVIDYGKLRETVEQEIRDMGLQSTPFTLTKVFQLYETKNSRHSTMIVGCTGSGKTASWRILQASLSSLCRAGDPNFNIVREFPLNPKALSLGELYGEYDLSTNEWTDGILSSVMRTACADEKPDEKWILFDGPVDTLWIENMNSVMDDNKVLTLINGERIAMPEQVSLLFEVEDLAMASPATVSRCGMVYTDYADLGWKPYVQSWLEKRPKAEVEPLQRMFEKLINKMLAFKKDNCKELVPLPEYSGITSLCKLYSALATPENGVNPADGENYVTMVEMTFVFSMIWSVCASVDEEGRKRIDSYLREIEGSFPNKDTVYEYFVDPKIRSWTSFEDKLPKSWRYPPNAPFYKIMVPTVDTVRYNYLVSSLVANQNPILLVGPVGTGKTSIAQSVLQSLPSSQWSVLVVNMSAQTTSNNVQSIIESRVEKRTKGVYVPFGGKSMITFMDDLNMPAKDMFGSQPPLELIRLWIDYGFWYDRTKQTIKYIREMFLMAAMGPPGGGRTVISPRLRSRFNIINMTFPTKSQIIRIFGTMINQKLQDFEEEVKPIGNVVTEATLDMYNTVVQRFLPTPTKMHYLFNLRDISKVFQGMLRANKDFHDTKSSITRLWIHECFRVFSDRLVDAADTEAFMGIISDKLGSFFDLTFHHLCPSKRPPIFGDFLKEPKVYEDLTDLTVLKTVMETALNEYNLSPSVVPMQLVLFREAIEHITRIVRVIGQPRGNMLLVGIGGSGRQSLARLASSICDYTTFQIEVTKHYRKQEFRDDIKRLYRQAGVELKTTSFIFVDTQIADESFLEDINNILSSGEVPNLYKPDEFEEIQSHIIDQARVEQVPESSDSLFAYLIERVQNNLHIVLCLSPMGDPFRNWIRQYPALVNCTTINWFSEWPQEALLEVAEKCLIGVDLGTQENIHRKVAQIFVTMHWSVAQYSQKMLLELRRHNYVTPTKYLELLSGYKKLLGEKRQELLAQANKLRTGLFKIDETREKVQVMSLELEDAKKKVAEFQKQCEEYLVIIVQQKREADEQQKAVTANSEKIAVEEIKCQALADNAQKDLEEALPALEEAMRALESLNKKDIGEIKSYGRPPAQVEIVMQAVMILRGNEPTWAEAKRQLGEQNFIKSLINFDKDNISDKVLKKIGAYCAQPDFQPDIIGRVSLAAKSLCMWVRAMELYGRLYRVVEPKRIRMNAALAQLREKQAALAEAQEKLREVAEKLEMLKKQYDEKLAQKEELRKKSEEMELKLERAGMLVSGLAGEKARWEETVQGLEEDLGYLVGDCLLAAAFLSYMGPFLTNYRDEIVNQIWIGKIWELQVPCSPSFAIDNFLCNPTKVRDWNIQGLPSDAFSTENGIIVTRGNRWALMIDPQAQALKWIKNMEGGQGLKIIDLQMSDYLRILEHAIHFGYPVLLQNVQEYLDPTLNPMLNKSVARIGGRLLMRIGDKEVEYNTNFRFYITTKLSNPHYSPETSAKTTIVNFAVKEQGLEAQLLGIVVRKERPELEEQKDSLVINIAAGKRKLKELEDEILRLLNEATGSLLDDVQLVNTLHTSKITATEVTEQLETSETTEINTDLAREAYRPCAQRASILFFVLNDMGCIDPMYQFSLDAYISLFILSIDKSHRSNKLEDRIDYLNDYHTYAVYRYTCRTLFERHKLLFSFHMCAKILETSGKLNMDEYNFFLRGGVVLDREGQMDNPCSSWLADAYWDNITELDKLTNFHGLMNSFEQYPRDWHLWYTNAAPEKAMLPGEWENACNEMQRMLIVRSLRQDRVAFCVTSFIITNLGSRFIEPPVLNMKSVLEDSTPRSPLVFILSPGVDPTSALLQLAEHMGMAQRFHALSLGQGQAPIAARLLREGVTQGHWVFLANCHLSLSWMPNLDKLVEQLQVEDPHPSFRLWLSSIPHPDFPISILQVSIKMTTEPPKGLKANMTRLYQLMSEPQFSRCSKPAKYKKLLFSLCFFHSVLLERKKFLQLGWNIIYGFNDSDFEVSENLLSLYLDEYEETPWDALKYLIAGINYGGHVTDDWDRRLLTTYINDYFCDQSLSTPFHRLSALETYFIPKDGSLASYKEYISLLPGMDPPEAFGQHPNADVASQITEAQTLFDTLLSLQPQITPTRAGGQTREEKVLELAADVKQKIPEMIDYEGTQKLLALDPSPLNVVLLQEIQRYNTLMQTILFSLTDLEKGIQGLIVMSTSLEEIFNCIFDAHVPPLWGKAYPSQKPLAAWTRDLAMRVEQFELWASRARPPVIFWLSGFTFPTGFLTAVLQSSARQNNVSVDSLSWEFIVSTVDDSNLVYPPKDGVWVRGLYLEGAGWDRKNSCLVEAEPMQLVCLMPTIHFRPAESRKKSAKGMYSCPCYYYPNRAGSSDRASFVIGIDLRSGAMTPDHWIKRGTALLMSLDS", "length": 4427, "header": "sp|Q9P225-1|DYH2_HUMAN Isoform 1 of Dynein axonemal heavy chain 2 OS=Homo sapiens OX=9606 GN=DNAH2 PE=1 SV=3 CANONICAL=Q9P225-1" }, "locus": { "chromosome": "17", "start_pos": 7833530, "end_pos": 7719735, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000572933.6", "url": "https://www.ensembl.org/id/ENST00000572933.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000458355.1", "url": "https://www.ensembl.org/id/ENSP00000458355.1" } ] } }, { "isoform_ac": "Q9P225-2", "url": "", "sequence": { "sequence": "MSSKAEKKQRLSGRGSSQASWSGRATRAAVATQEQGNAPAVSEPELQAELPKEEPEPRLEGPQAQSEESVEPEADVKPLFLSRAALTGLADAVWTQEHDAILEHFAQDPTESILTIFIDPCFGLKLELGMPVQTQNQLVYFIRQAPVPITWENFEATVQFGTVRGPYIPALLRLLGGVFAPQIFANTGWPESIRNHFASHLHKFLACLTDTRYKLEGHTVLYIPAEAMNMKPEMVIKDKELVQRLETSMIHWTRQIKEMLSAQETVETGENLGPLEEIEFWRNRCMDLSGISKQLVKKGVKHVESILHLAKSSYLAPFMKLAQQIQDGSRQAQSNLTFLSILKEPYQELAFMKPKDISSKLPKLISLIRIIWVNSPHYNTRERLTSLFRKVCDCQYHFARWEDGKQGPLPCFFGAQGPQITRNLLEIEDIFHKNLHTLRAVRGGILDVKNTCWHEDYNKFRAGIKDLEVMTQNLITSAFELVRDVPHGVLLLDTFHRLASREAIKRTYDKKAVDLYMLFNSELALVNRERNKKWPDLEPYVAQYSGKARWVHILRRRIDRVMTCLAGAHFLPRIGTGKESVHTYQQMVQAIDELVRKTFQEWTSSLDKDCIRRLDTPLLRISQEKAGMLDVNFDKSLLILFAEIDYWERLLFETPHYVVNVAERAEDLRILRENLLLVARDYNRIIAMLSPDEQALFKERIRLLDKKIHPGLKKLHWALKGASAFFITECRIHASKVQMIVNEFKASTLTIGWRAQEMSEKLLVRISGKRVYRDLEFEEDQREHRAAVQQKLMNLHQDVVTIMTNSYEVFKNDGPEIQQQWMLYMIRLDRMMEDALRLNVKWSLLELSKAINGDGKTSPNPLFQVLVILKNDLQGSVAQVEFSPTLQTLAGVVNDIGNHLFSTISVFCHLPDILTKRKLHREPIQTVVEQDEDIKKIQTQISSGMTNNASLLQNYLKTWDMYREIWEINKDSFIHRYQRLNPPVSSFVADIARYTEVANNVQKEETVTNIQFVLLDCSHLKFSLVQHCNEWQNKFATLLREMAAGRLLELHTYLKENAEKISRPPQTLEELGVSLQLVDALKHDLANVETQIPPIHEQFAILEKYEVPVEDSVLEMLDSLNGEWVVFQQTLLDSKQMLKKHKEKFKTGLIHSADDFKKKAHTLLEDFEFKGHFTSNVGYMSALDQITQVRAMLMAMREEENSLRANLGIFKIEQPPSKDLQNLEKELDALQQIWEIARDWEENWNEWKTGRFLILQTETMETTAHGLFRRLTKLAKEYKDRNWEIIETTRSKIEQFKRTMPLISDLRNPALRERHWDQVRDEIQREFDQESESFTLEQIVELGMDQHVEKIGEISASATKELAIEVALQNIAKTWDVTQLDIVPYKDKGHHRLRGTEEVFQALEDNQVALSTMKASRFVKAFEKDVDHWERCLSLILEVIEMILTVQRQWMYLENIFLGEDIRKQLPNESTLFDQVNSNWKAIMDRMNKDNNALRSTHHPGLLDTLIEMNTILEDIQKSLDMYLETKRHIFPRFYFLSNDDLLEILGQSRNPEAVQPHLKKCFDNIKLLRIQKVGGPSSKWEAVGMFSGDGEYIDFLHSVFLEGPVESWLGDVEQTMRVTLRDLLRNCHLALRKFLNKRDKWVKEWAGQVVITASQIQWTADVTKCLLTAKERADKKILKVMKKNQVSILNKYSEAIRGNLTKIMRLKIVALVTIEIHARDVLEKLYKSGLMDVNSFDWLSQLRFYWEKDLDDCVIRQTNTQFQYNYEYLGNSGRLVITPLTDRCYMTLTTALHLHRGGSPKGPAGTGKTETVKDLGKALGIYVIVVNCSEGLDYKSMGRMYSGLAQTGAWGCFDEFNRINIEVLSVVAHQILCILSALAAGLTHFHFDGFEINLVWSCGIFITMNPGYAGRTELPENLKSMFRPIAMVVPDSTLIAEIILFGEGFGNCKILAKKVYTLYSLAVQQLSRQDHYDFGLRALTSLLRYAGKKRRLQPDLTDEEVLLLSMRDMNIAKLTSVDAPLFNAIVQDLFPNIELPVIDYGKLRETVEQEIRDMGLQSTPFTLTKVFQLYETKNSRHSTMIVGCTGSGKTASWRILQASLSSLCRAGDPNFNIVREFPLNPKALSLGELYGEYDLSTNEWTDGILSSVMRTACADEKPDEKWILFDGPVDTLWIENMNSVMDDNKVLTLINGERIAMPEQVSLLFEVEDLAMASPATVSRCGMVYTDYADLGWKPYVQSWLEKRPKAEVEPLQRMFEKLINKMLAFKKDNCKELVPLPEYSGITSLCKLYSALATPENGVNPADGENYVTMVEMTFVFSMIWSVCASVDEEGRKRIDSYLREIEGSFPNKDTVYEYFVDPKIRSWTSFEDKLPKSWRYPPNAPFYKIMVPTVDTVRYNYLVSSLVANQNPILLVGPVGTGKTSIAQSVLQSLPSSQWSVLVVNMSAQTTSNNVQSIIESRVEKRTKGVYVPFGGKSMITFMDDLNMPAKDMFGSQPPLELIRLWIDYGFWYDRTKQTIKYIREMFLMAAMGPPGGGRTVISPRLRSRFNIINMTFPTKSQIIRIFGTMINQKLQDFEEEVKPIGNVVTEATLDMYNTVVQRFLPTPTKMHYLFNLRDISKVFQGMLRANKDFHDTKSSITRLWIHECFRVFSDRLVDAADTEAFMGIISDKLGSFFDLTFHHLCPSKRPPIFGDFLKEPKVYEDLTDLTVLKTVMETALNEYNLSPSVVPMQLVLFREAIEHITRIVRVIGQPRGNMLLVGIGGSGRQSLARLASSICDYTTFQIEVTKHYRKQEFRDDIKRLYRQAGVELKTTSFIFVDTQIADESFLEDINNILSSGEVPNLYKPDEFEEIQSHIIDQARVEQVPESSDSLFAYLIERVQNNLHIVLCLSPMGDPFRNWIRQYPALVNCTTINWFSEWPQEALLEVAEKCLIGVDLGTQENIHRKVAQIFVTMHWSVAQYSQKMLLELRRHNYVTPTKYLELLSGYKKLLGEKRQELLAQANKLRTGLFKIDETREKVQVMSLELEDAKKKVAEFQKQCEEYLVIIVQQKREADEQQKALESLNKKDIGEIKSYGRPPAQVEIVMQAVMILRGNEPTWAEAKRQLGEQNFIKSLINFDKDNISDKVLKKIGAYCAQPDFQPDIIGRVSLAAKSLCMWVRAMELYGRLYRVVEPKRIRMNAALAQLREKQAALAEAQEKLREVAEKLEMLKKQYDEKLAQKEELRKKSEEMELKLERAGMLVSGLAGEKARWEETVQGLEEDLGYLVGDCLLAAAFLSYMGPFLTNYRDEIVNQIWIGKIWELQVPCSPSFAIDNFLCNPTKVRDWNIQGLPSDAFSTENGIIVTRGNRWALMIDPQAQALKWIKNMEGGQGLKIIDLQMSDYLRILEHAIHFGYPVLLQNVQEYLDPTLNPMLNKSVARIGGRLLMRIGDKEVEYNTNFRFYITTKLSNPHYSPETSAKTTIVNFAVKEQGLEAQLLGIVVRKERPELEEQKDSLVINIAAGKRKLKELEDEILRLLNEATGSLLDDVQLVNTLHTSKITATEVTEQLETSETTEINTDLAREAYRPCAQRASILFFVLNDMGCIDPMYQFSLDAYISLFILSIDKSHRSNKLEDRIDYLNDYHTYAVYRYTCRTLFERHKLLFSFHMCAKILETSGKLNMDEYNFFLRGGVVLDREGQMDNPCSSWLADAYWDNITELDKLTNFHGLMNSFEQYPRDWHLWYTNAAPEKAMLPGEWENACNEMQRMLIVRSLRQDRVAFCVTSFIITNLGSRFIEPPVLNMKSVLEDSTPRSPLVFILSPGVDPTSALLQLAEHMGMAQRFHALSLGQGQAPIAARLLREGVTQGHWVFLANCHLSLSWMPNLDKLVEQLQVEDPHPSFRLWLSSIPHPDFPISILQVSIKMTTEPPKGLKANMTRLYQLMSEPQFSRCSKPAKYKKLLFSLCFFHSVLLERKKFLQLGWNIIYGFNDSDFEVSENLLSLYLDEYEETPWDALKYLIAGINYGGHVTDDWDRRLLTTYINDYFCDQSLSTPFHRLSALETYFIPKDGSLASYKEYISLLPGMDPPEAFGQHPNADVASQITEAQTLFDTLLSLQPQITPTRAGGQTREEKVLELAADVKQKIPEMIDYEGTQKLLALDPSPLNVVLLQEIQRYNTLMQTILFSLTDLEIPSCVSHKSERVVLELSAVKHPRQ", "length": 4196, "header": "sp|Q9P225-2|DYH2_HUMAN Isoform 2 of Dynein axonemal heavy chain 2 OS=Homo sapiens OX=9606 GN=DNAH2 PE=1 SV=3 CANONICAL=Q9P225-1" }, "locus": {} }, { "isoform_ac": "Q9P225-3", "url": "", "sequence": { "sequence": "MSSKAEKKQRLSGRGSSQASWSGRATRAAVATQEQGNAPAVSEPELQAELPKEEPEPRLEGPQAQSEESVEPEADVKPLFLSRAALTGLADAVWTQEHDAILEHFAQDPTESILTIFIDPCFGLKLELGMPVQTQNQLVYFIRQAPVPITWENFEATVQFGTVRGPYIPALLRLLGGVFAPQIFANTGWPESIRNHFASHLHKFLACLTDTRYKLEGHTVLYIPAEAMNMKPEMVIKDKELVQRLETSMIHWTRQIKEMLSAQETVETGENLGPLEEIEFWRNRCMDLSGISKQLVKKGVKHVESILHLAKSSYLAPFMKLAQQIQDGSRQAQSNLTFLSILKEPYQELAFMKPKDISSKLPKLISLIRIIWVNSPHYNTRERLTSLFRKMSNEIIRLCCHAISLDRIFEGYVSSSKEDLQGCILCCHAWKDHYVQAVQMHIQFSSRGWVLDQTSIFAQVDAFVQRCKDLIEVCDCQYHFARWEDGKQGPLPCFFGAQGPQITRNLLEIEDIFHKNLHTLRAVRGGILDVKNTCWHEDYNKFRAGIKDLEVMTQNLITSAFELVRDVPHGVLLLDTFHRLASREAIKRTYDKKAVDLYMLFNSELALVNRERNKKWPDLEPYVAQYSGKARWVHILRRRIDRVMTCLAGAHFLPRIGTGKESVHTYQQMVQAIDELVRKTFQEWTSSLDKDCIRRLDTPLLRISQEKAGMLDVNFDKYRSHLAPFPYTPLLQLSQEFHSHLLTPLFIILSLSHTICLLSSFYFFFSSFIFVSPHLPPCYQHFNFTTYLKTQQNKTMIGQARWLTPVIPALWEAEVGASLEPRSLRTAWATWQNPVSAKNTKISWAWWHKPVVSATWEGEVGGSPEPGRQRLQ", "length": 872, "header": "sp|Q9P225-3|DYH2_HUMAN Isoform 3 of Dynein axonemal heavy chain 2 OS=Homo sapiens OX=9606 GN=DNAH2 PE=1 SV=3 CANONICAL=Q9P225-1" }, "locus": { "chromosome": "17", "start_pos": 7743608, "end_pos": 7719735, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000570791.5", "url": "https://www.ensembl.org/id/ENST00000570791.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000460245.1", "url": "https://www.ensembl.org/id/ENSP00000460245.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q9P225", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9P225" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 3284, "end_pos": 3284, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9P225", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9P225" }, { "database": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ], "site_lbl": "Ser3284" }, { "start_pos": 616, "end_pos": 616, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q9P225", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9P225" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ], "site_lbl": "Thr616" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.", "journal": "Journal of proteome research", "date": "2007", "authors": "Yu LR, Zhu Z, Chan KC, Issaq HJ, Dimitrov DS, Veenstra TD", "evidence": [ { "database": "iPTMnet", "id": "Q9P225-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9P225-1" } ], "reference": [ { "type": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" } ] }, { "title": "Phosphoproteomic analysis of distinct tumor cell lines in response to nocodazole treatment.", "journal": "Proteomics", "date": "2009", "authors": "Nagano K, Shinkawa T, Mutoh H, Kondoh O, Morimoto S, Inomata N, Ashihara M, Ishii N, Aoki Y, Haramura M", "evidence": [ { "database": "iPTMnet", "id": "Q9P225-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9P225-1" } ], "reference": [ { "type": "PubMed", "id": "19415658", "url": "https://glygen.org/publication/PubMed/19415658" } ] }, { "title": "Inosine cyanoethylation identifies A-to-I RNA editing sites in the human transcriptome.", "journal": "Nat. Chem. Biol.", "date": "2010", "authors": "Suzuki T., Ueda H., Yano T., Sakurai M., Kawabata H.", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "reference": [ { "type": "PubMed", "id": "20835228", "url": "https://glygen.org/publication/PubMed/20835228" } ] }, { "title": "DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.", "journal": "Clin. Genet.", "date": "2019", "authors": "Li Y, Sha Y, Wang X, Ding L, Liu W, Ji Z, Mei L, Huang X, Lin S, Kong S, Lu J, Qin W, Zhang X, Zhuang J, Tang Y, Lu Z", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" }, { "database": "RefSeq", "id": "NP_001290199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290199" } ], "reference": [ { "type": "PubMed", "id": "30811583", "url": "https://glygen.org/publication/PubMed/30811583" } ] }, { "title": "Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.", "journal": "Am. J. Hum. Genet.", "date": "2019", "authors": "Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Toure A, Legendre M", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "reference": [ { "type": "PubMed", "id": "31178125", "url": "https://glygen.org/publication/PubMed/31178125" } ] }, { "title": "Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella.", "journal": "Reproductive biomedicine online", "date": "2021", "authors": "Gao Y, Tian S, Sha Y, Zha X, Cheng H, Wang A, Liu C, Lv M, Ni X, Li Q, Wu H, Tan Q, Tang D, Song B, Ding D, Cong J, Xu Y, Zhou P, Wei Z, Cao Y, Xu Y, Zhang F, He X", "evidence": [ { "database": "RefSeq", "id": "NP_001290199", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001290199" } ], "reference": [ { "type": "PubMed", "id": "33771466", "url": "https://glygen.org/publication/PubMed/33771466" } ] }, { "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": "Q9P225", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q9P225" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment.", "journal": "FEBS Lett.", "date": "1997", "authors": "Goossens M., Amselem S., Duriez B., Escudier E., Chapelin C., Magnino F.", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "reference": [ { "type": "PubMed", "id": "9256245", "url": "https://glygen.org/publication/PubMed/9256245" } ] } ], "pathway": [ { "id": "hsa:146754", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:146754", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A0G2JYL5-1", "protein_name": "Dynein, axonemal, heavy chain 2", "gene_name": "Dnah2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MASKAEKKRKVGGRGGPRAGRPGRPPQSTVAPGVEKETSQLPIIPEPEYEPMKEESEQDLEEPEEPKEPDLSTDVKPIFLSRAMLTGLADSTWTAEHDAVLEHFAQDPSVPVLTIFVDPVFGLKLELGMPVQTQNQIVYFIRQAPVPITPENFEETVQYGTVRGAYIPALLRLLSGVYVPQIFMNKSWPESIRNHFVSHLHRFLASLTDTRYKLEGHTVLYIPAEAITMDPAVVIKDKELVQRLETSMIHWTRQIKEVLSAQESVDTGENLGPLEEIEFWNNRCMDLSGISKQLVKQGVKHIESILLLAKSSYLAPFRKLAQQIQDGSRQAQSNLTFLSILREPYQELAFMKPKDISDKLPKLISLIRIIWVNSPHYNTRERLTGLFRKMSNEIIRLCCHSVSLDRIFEGYVSSSKEDLQGCISCCHAWKEHYLRAVQMHTQFSNRGWVLDQTSIFAQVDAFVQRCKDLIEVCDCQYHFARWLDGTQGPLPCFFGAQGPQITRNLLEIEDIFHKNLQTLRAVRGGILDVKNTSWHEDYNKFRAGIKDLEVMTQNLITSAFELVRDVEHGVLLLDTFHRLANREAIMRTYEKKAVDLYMLFNSELALVNRELNKKWPYLEPYMAQYSGQAHWVRILRRRIDRVMNCLSGAHFLPHIGTGEETVHTYQQMVQAIDELVRKTFQEWTATLDKDCIRRLDMPLLRISQEKAGMLDVNFDKTLLILFVEIDYWERLLFETPHYVMNVADRAEDLRILRENLLLVARDYNRIIAMLSPDEQALFKERIRFLDKKIHPGLKKLNWALKGASAFFITECRIHASKVQMIVNDFKASTLTIGWKAQEMSELLLVHITGKQVYRDLEFEEAQREHRMAVQQKLVNLHQDVINILTNSFEVFKNDGPEIQQQWLLYTIRLDHMMEDALRLNVKWSLLELSKAINGDGKTSPNPLFRVLVILQSDVQGGGAQVEFSPTLQTLASVVNDIGSHLFSTISVFRHLPDILTKRKMTREPIHVVVERDEDIRKIQAQISSGMTNNASLLQNYLKTWDMYREIWEINKDSFIRRYQRLNPPVSSFDADIARYTEVANNVQKEETVLNIQFVMLDCSHLKFSLVQHCNEWQNKFTTLLKEMAAGRLMDLHTYLKDNAEKISRPPQTLEELGVSLQLMDTLQHDLPNLETQIPPIHEQFTILEKYEVPVPDTVLEMLESLNGEWLTFQQILLDSEQMLKKHKEKFKTGLIHAADDFKKKAHNLLEDFELKGPFTSNVGHTAALDQIAQVRAMLMAMREEESNLRSNLGIFKIEQPISKDLQNLEKELDALQQVWEITRDWEESWNQWKTGCFLTLQTEAMESMAHGLFRRLTRLAKEYKDRNWEVIETTRAKIEQFKRTMPLISDLRNPALRERHWDQVKEEIQREFDQESESFTLEQIVKLGMDQHVEKIAEISASATKELAIEVGLQNIAKTWDSTQLDIVPYKDKGHHRLRGTEEVFQALEDNQVALSTMKASRFVKAFEKDVDHWERCLSLILEVIEMVLTVQRQWMYLENIFLGEDIRKQLPNESALFDQVNNNWKGIMDRMNKDNNALRSTHYPGLLETLIEMNTILEDIQKSLDMYLETKRHMFPRFYFLSNDDLLEILGQSRNPEAVQPHLKKCFDNIKLLKIQKVGGSSSKWEAVGMFSGDGEYIDFLHPVLLEGAVESWLGDVERAMRMTLRDLLRNCRMALKKFLNKRDKWVKDWAGQMVITASQIQWTADVTKCLMTAKERSDKKILKVMKKKQVSILNKYSEAIRGNLTKIMRLKIVALVTIEIHARDVLEKLYKGGLMDVNAFDWLSQLRFYWEKDVDDCIIRQTNTQFQYGYEYLGNSGRLVITPLTDRCYMTLTTALHLHRGGSPKGPAGTGKTETVKDLGKALGTYVIVVNCSEGLDYKSMGRMYSGLAQTGAWGCFDEFNRINIEVLSVVAQQILSILSALTANLTRFYFEGFEINLVWSCGIFITMNPGYAGRTELPENLKSMFRPIAMVVPDSTLIAEIILFGEGFGNCKILAKKVYTLYSLAVQQLSRQDHYDFGLRALTSLLRYAGKKRRLQPDLTDEEVLLLSMRDMNIAKLTSVDVPLFNAIVQDLFPNIELPVIDYGKLRDTIEQEIREMGLQITPFTLTKVLQLYETKNSRHSTMIVGGTGSSKTTSWRILQASLTSLCRAGEPNFNIVKEFPLNPKALSLGELYGEYDLNTNEWTDGILSSVMRAACADEKPDEKWILFDGPVDTLWIESMNSVMDDNKVLTLINGERIAMPEQVSLLFEVENLAVASPATVSRCGMVYTDYVDLGWTPYVQSWLEKRPKAEIEPLQRMFEKFINKILTFKKDNCNELVPVTEYSGIISLCKLYTVLATPENGVNPADTENHAFMVEMTFVFSMIWSVCASVDEDGRKKIDSYLREIEGSFPNKDTVYEYYVNPKMRTWSSFEEQLPKSWRYPPNAPFYKIMVPTVDTVRYNYLVSTLVANQNPVLLVGPVGTGKTSIAQSVLQSLPSSQWSVLVVNMSAQTTSNNVQSIIESRVEKRTKGVYVPFGGKSMITFMDDLNMPAKDMFGSQPPLELIRLWIDYGFWYDRVKQTIKHIRDMFLMAAMGPPGGGRTVISPRLQSRFNIINMTFPTESQIIRIFGTMINQKLQDFEEEVKPIGNVVTEATLDVYNTVVQRFLPTPAKIHYLFNLRDISKVFQGMLRANKDFHDTKASITRLWIHECFRVFSDRLVDTTDMEAFIGILSDKLGTFFDLTFHHLCPNKRPPIFGDFLKEPKVYEDLVDLSVLKTAMETALNEYNLSPSVVQMQLVLFREAIEHITRIVRVIGQPRGNMLLVGIGGSGRQSLARLASSICEYNTFQIEVTKHYRKQEFRDDIKRLYRQAGVELQATSFLFVDTQIADESFLEDINNILSSGEVPNLYKADEFEEIQNQIIDQARAEQISESSDSLFAYLIERVRNNLHIVLCLSPVGDPFRNWIRQYPALVNCTTINWFSEWPREALLEVAEKYLVGVDLGTQENIHRKVAQIFVTMHWSVAQYSQKMLLELRRHNYVTPTNYLELVSGYKKLLGEKRQELLDQANKLRTGLFKIDETREKVEVMSLELEDAKKKVAEFQKQCEEYLVIIVQQKREADEQQKAVTANSEKIAIEEVKCQALADNAQKDLEEALPALEEAMRALESLNKKDIGEIKSYGRPPAQVEIVMQAVMILRGNEPTWAEAKRQLGEQNFIKSLIYFDKDNISDKVLKKIGAYCAQPDFQPDIIGRVSLAAKSLCMWVRAMELYGRLYRVVEPKRIRMNAAIAQLQEKQAALAEAQEKLREVAEKLEMLKKQYDEKLAQKEELRKKSEEMELKLERAGMLVSGLAGEKARWEETVQGLEEDLGYLVGDCLIAAAFLSYMGPFLTNYRDEIVNQIWIKKIWELQVPCSPRFAIDNFLTNPTKVRDWNIQGLPSDSFSTENGIIVTRGNRWALMIDPQAQALKWIKNMEGNQGLKIIDLQMHDYLRVLEHAIQFGFPVLLQNVQEYLDPSLNPVLNKSVARIGGRMLMRIADKEVEYNPNFRFYLTTKLSNPHYSPETSAKTTIVNFAVKEQGLEAQLLGIVVRKERPELEEQKDSLVINIAAGKRKLKELEDEILRLLNEATGSLLDDVQLVNTLQTSKITATEVTEQLETSETTEINIDLAREAYRPCAQRASVLFFVLNDMGRIDPMYQFSLDAYISLFILSIDKSHRSNKLEDRIEYLNDYHTYAVYRYTCRTLFERHKLLFSFHMCAKILETSGKLNMDEYNFFLRGGVVLDREGQMDNPCTSWLADAYWDNITELDKLTNFHGLMNSFEQYPRDWHLWYTNSNPEKAMLPGEWENACNEMQRMLIVRSLRQDRVAFCVTSFIVSNLGSRFIEPPVLNMKLVMEDSTPRSPLVFILSPGVDPTSALLQLAEHTGMAHRFHALSLGQGQAPIAARLLREGVNQGHWVFLANCHLSLSWMPNLDKLVEQLQVEDPHPSFRLWLSSSPHPDFPISILQASIKMTTEPPKGLKANMTRLYQLMTEAQFTHCSKPTKYKKLLFALCFFHSILLERKKFLQLGWNIIYGFNDSDFEVSENLLSLYLDEYEETPWDALKYLIAGVNYGGHVTDDWDRRLLTTYINDYFCDLSLTTPSYRLSVLDTYYIPKDGSLASYKEYISLLPSMDPPEAFGQHPNADVASQITEARTLFETLLSLQPQITPTRIGGQSREEKVLELAADVKQKIPEMIDYEGTRKLLALDPSPLNVVLLQEIQRYNKLMKTILFSLTDLEKGIQGLIVMSTSLEEIFNCIFDAHVPPLWGKVYPSQKPLASWTRDLAVRVEQFETWANRAHPPVLFWLSGFTFPTGFLTAVLQSAARQNNISVDSLSWEFIVSTVDDSNLVYPPKDGVWVRGLYLEGAGWDRKNSCLVEAEPMQLVCLMPTIHFRPAESRKKSAKGMYSCPCYYYPNRAGSADRASFVIGIDLRSGAMTSDHWIKRGTALLMSLDN", "length": 4508 }, "evidence": [ { "id": "45236056", "url": "http://www.informatics.jax.org/homology/45236056", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P0C6F1-1", "protein_name": "Dynein axonemal heavy chain 2", "gene_name": "Dnah2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASKAEKKRKVAGRGGARAGRVVRAPQSTAGPGATEASLLPDGQEPEPESGKEDSVLGLQAFASWRLTPALHGEANTPPTLLHPQPLFHRRLTTLNLILSCSRAGTRDLALKPFFLSRTMLTGLADATWTGEHDMVLEHFVQDPAVPALTIFIDPVFGLKLELGMPVQTQNQIVYFIRQAPVPITPENFEETVQYGTVRGAYIPALLRLLSGVYVPQIFMNKSWPESIRNHFVSHLHRFLASLTDTRYKLEGHTVLYIPAEAVQMDPEVVVKDKELVQRLETSMIHWTRQIKEVLSAQESVETGENLGPLEEIEFWHNRCMDLSSISKQLVKKGVKHIESILFLAKSSYLTPFRKLAQQIQDGSRQAQSNLTFLSILREPYQELAFMKPKDISEKLPKLISLIRIIWVNSPHYNTRERLTALFRKVCECQYHFARWEDGKQGPLPCFFGAQGPQITRNLLEIEDIFHKNLQTLRAVRGGILDVKNTSWHEDYNKFRGGIKDLEVMTQNLITSAFELVRDVEHGVLLLDTFHRLATREAIMRTYEKKAVDLYMLFNSELALVNRELNKKWPYLEPYMTQYSGQAHWVRILRRRIDRVMNCLSGAHFLPHIGTGEESIHTYQQMAQAIDEMVRKTFQEWTATLDKDCIRRLDMSLLRISQEKVGMLDVNFDKTLLILFAEIDYWERLLFETPHYVMNVAERAEDLRILRENLLLVARDYNRIIAMLSPDEQALFKERIRFLDKKIHPGLKKLNWALKGASAFFITECRMHASKVQMIVNDFKASTLTIGWKAQEMSELLLVHITGKQVYRDLEFEEAQREHRMAAQQKLVKLHQDVVNIMTNSYEVFKNDGPEIQQQWLLYTIRLDHMMEDALRLNVKWSLLELSKAINGDGKTTPNPLFRVLVILQNDVRGGGSQVEFSPTLQTLASVVNDIGSHLFATISVFRHLPDILTKRKMNREPIYVLVERDEDIRKIQAQISSGMTNNASLLQNYLKTWDMYREIWEINKDSFIRRYQRLNPPVSSFDADIARYTEVANNVQKEETVLNIQFVMLDCSHLKFSLVQHCNEWQNKFTTLLKEMAAGRLADLHSYLKDNAEKISHPPQTLEELGVSLQLMDTLQHDLPNLETQIPPIHEQFTILEKYEVPVPDTVLEMLESLNGEWLTFQQILLDSEQMLKKHKEKFKTGLIHAADDFKKKAHNLLEDFEFKGPFTSTVGHTAALDQIAQMRAMLMAMRDEENNLRSNLGIFKIEQPVSKDLQILEKELDALQQVWEITRDWEESWNQWKMGCFQTLQTEAMESMAHGLFRRLTRLAKEYKDRNWEIIETTRSKIEQFKRTMPLISDLRNPALRERHWDQVKEEVQREFDQESESFTLEQIVKLGMDQHVEKIAEISASATKELAIEVGLQNIAKTWDSTQLDIVPYKDKGHHRLRGTEEVFQALEDNQVALSTMKASRFVKAFEKDVDHWERCLSLILEVIEMVLTVQRQWMYLENIFLGEDIRKQLPNESALFDQVNNNWKAIMDRMNKDNNALRSTHYPGLLETLIEMNAILEDIQKSLDMYLETKRHIFPRFYFLSNDDLLEILGQSRNPEAVQPHLKKCFDNIKLLKIQKVGGSSSKWEAVGMFSGDGEYIDFLHPVLLEGPVESWLGDVERAMRMTLRDLLRNCRVALKKFLNKRDKWVKDWAGQVVITASQIQWTADVTKCLMTAKERSDKKILKVSILNKYSEAIRGNLTKIMRLKIVALVTIEIHARDVLEKLYKSGLMDVSSFDWLSQLRFYWEKDVDDCIIRQTNTQFQYGYEYLGNSGRLVITPLTDRCYMTLTTALHLHRGGSPKGPAGTGKTETVKDLGKALGIYVIVVNCSEGLDYKSMGRMYSGLAQSGAWGCFDEFNRINIEVLSVVAQQILSILSALTANLTRFYFEGFEINLVWSCGIFITMNPGYAGRTELPENLKSMFRPIAMVVPDSTLIAEIILFGEGFGNCKILAKKVYTLYSLAVQQLSRQDHYDFGLRALTSLLRYAGKKRRLQPDLSDEEVLLLSMRDMNIAKLTSVDVPLFNAIVQDLFPNIELPVIDYGKLRDTIEQEIREMGLQITPFTLTKVLQLYETKNSRHSTMIVGGTGSSKTTSWKILQASLTSLCRAGEPNYNIVREFPLNPKALSLGELYGEYDLNTNEWTDGILSSVMRVACADEKPDEKWILFDGPVDTLWIESMNSVMDDNKVLTLINGERIAMPEQVSLLFEVENLAVASPATVSRCGMVYTDYVDLGWKPYVQSWLEKRPKTEVEPLQRMFEKFINKILSFKKDNCNELVPVPEYSGIISLCKLYTVLATPENGVNPADAENYSFMVEMTFVFSMIWSVCASVDEDGRKKIDSYLREIEGSFPNKDTVYEYYVNPKMRTWTSFEEKLPKSWRYPPNAPFYKIMVPTVDTVRYNYLVSTLVANQNPVLLVGPVGTGKTSIAQSVLQSLPSSQWSVLVVNMSAQTTSNNVQSIIESRVEKRTKGVYVPFGGKSMITFMDDLNMPAKDMFGSQPPLELIRLWIDYGFWYDRVKQSIKHIRDMFLMAAMGPPGGGRTVISPRLQSRFNIINMTFPTESQIIRIFGTMINQKLQDFEEEVKPIGNVVTEATLDVYNTVVQRFLPTPAKIHYLFNLRDISKVFQGMLRANKDFHDTKASITRLWIHECFRVFSDRLVDTADMEAFMGILSDKLGTFFDLTFHHLCPNKRPPIFGDFLKEPKVYEDLVDLTVLKTAMETALNEYNLSPSVVPMQLVLFREAIEHITRIVRVIGQPRGNMLLVGIGGSGRQSLARLASSICDYNTFQIEVTKHYRKQEFRDDIKRLYRQAGVELQTTSFLFVDTQIADESFLEDINNILSSGEVPNLYKSDEFEEIQNHIIDQARAEQIPESSDSLFAYLIERVRNNLHIVLCLSPVGDPFRNWIRQYPALVNCTTINWFSEWPREALLEVAEKYIIGVDLGTQENIHRKVAQIFVTMHWSVAQYSQKMLLELRRYNYVTPTNYLELVSGYKKLLGEKRQELLDQANKLRTGLFKIDETREKVEVMSLELEDAKKKVAEFQKQCEEYLVIIVQQKREADEQQKAVTANSEKIAIEEVKCQALADNAQKDLEEALPALEEAMRALESLNKKDIGEIKSYGRPPAQVEIVMQAVMILRGNEPTWAEAKRQLGEQNFIKSLINFDKDNISDKVLKKIGAYCAQPDFQPDIIGRVSLAAKSLCMWVRAMELYGRLYRVVEPKRIRMNAAMAQLQEKQAALAEAQEKLREVAEKLEMLKKQYDEKLAQKEELRKKSEEMELKLERAGMLVSGLAGEKARWEETVQGLEEDLGYLVGDCLIAAAFLSYMGPFLTNYRDEIINQIWIRKIRELQVPCSPRFAIDNFLTNPTKVRDWNIQGLPSDAFSTENGIIVTRGNRWALMIDPQGQALKWIKNMEGNQGLKIIDLQMHDYLRVLEHAIQFGFPVLLQNVQEYLDPTLNPVLNKSVARIGGRMLIRIGDKEVEYNPNFRFYLTTKLSNPHYNPETSAKTTIVNFAVKEQGLEAQLLGIVVRKERPELEEQKDSLVINIAAGKRKLKELEDEILRLLNEATGSLLDDVQLVNTLQTSKITATEVTEQLETSETTEINIDLAREAYRPCAQRASVLFFVLNDMGRIDPMYQFSLDAYIGLFILSIDKSHRSNKLEDRIEYLNDYHTYAVYRYTCRTLFERHKLLFSFHMCAKILETSGKLNMDEYNFFLRGGVVLDREGQMDNPCTSWLADAYWDNITELDKLTNFHGLMNSFEQYPRDWHLWYTNSSPEKAMLPGEWENACNEMQRMLIVRSLRQDRVAFCVTSFIVSNLGSRFIEPPVLNMKSVMEDSTPRSPLVFILSPGVDPTSALLQLAEHTGMAHRFHALSLGQGQAPIAARLLREGVNQGHWVFLANCHLSLSWMPNLDKLVEQLQVEDPHPSFRLWLSSSPHPDFPISILQASIKMTTEPPKGLKANMTRLYQLMTEAQFTHCSKPAKYKKLLFALCFFHSILLERKKFLQLGWNIIYGFNDSDFEVSENLLSLYLDEYEETPWDALKYLIAGVNYGGHVTDDWDRRLLTTYINDYFCDLSLTTPFYRLSVLDTYYIPKDGSLASYKEYISMLPSMDPPEAFGQHPNADVASQITEARTLFETLLSLQPQITPTRVGGQSREEKVLELAADVKQKIPEMIDYEGTRKLLALDPSPLNVVLLQEIQRYNKLMKTILFSLTDLEKGIQGLIVMSTSLEEIFNCIFDAHVPPLWGKVYPSQKPLASWTRDLAVRVEQFETWASRARPPVLFWLSGFTFPTGFLTAVLQSAARQNNISVDSLSWEFIVSTVDDSNLVYPPKDGVWVRGLYLEGAGWDRKNSCLVEAEPMQLVCLMPTIHFRPAESRKKSAKGMYSCPCYYYPNRAGSTDRASFVIGIDLRSGSMTSDHWIKRGTALLMSLDS", "length": 4456 }, "evidence": [ { "id": "45236056", "url": "http://www.informatics.jax.org/homology/45236056", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "microtubule-based movement", "id": "GO:0007018", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007018", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "inner dynein arm assembly", "id": "GO:0036159", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036159", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "cilium-dependent cell motility", "id": "GO:0060285", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060285", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "dynein complex", "id": "GO:0030286", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030286", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "microtubule", "id": "GO:0005874", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005874", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "motile cilium", "id": "GO:0031514", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031514", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "sperm flagellum", "id": "GO:0036126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036126", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "axoneme", "id": "GO:0005930", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005930", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "axonemal dynein complex", "id": "GO:0005858", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005858", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "inner dynein arm", "id": "GO:0036156", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036156", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "minus-end-directed microtubule motor activity", "id": "GO:0008569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008569", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "dynein light intermediate chain binding", "id": "GO:0051959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051959", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "dynein intermediate chain binding", "id": "GO:0045505", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045505", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "ATP binding", "id": "GO:0005524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" }, { "name": "microtubule motor activity", "id": "GO:0003777", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003777", "evidence": [ { "database": "UniProtKB", "id": "Q9P225", "url": "https://www.uniprot.org/uniprot/Q9P225" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { 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