{ "uniprot_canonical_ac": "Q02509-1", "uniprot_ac": "Q02509", "uniprot_id": "OC90_HUMAN", "mass": { "chemical_mass": 51728.0, "monoisotopic_mass": 51728.0 }, "refseq": { "ac": "NP_001073868", "name": "otoconin-90 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073868" }, "gene_names": [ { "name": "OC90", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q02509", "id": "Q02509" }, { "name": "OC90", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073868", "id": "NP_001073868" }, { "name": "PLA2L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073868", "id": "NP_001073868" }, { "name": "PLA2L", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q02509", "id": "Q02509" } ], "protein_names": [ { "name": "Otoconin-90", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q02509" }, { "name": "Oc90", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q02509" }, { "name": "Phospholipase A2 homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q02509" }, { "name": "otoconin-90 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073868", "id": "NP_001073868" }, { "name": "phospholipase A2 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073868", "id": "NP_001073868" } ], "function": [ { "annotation": "Calcium carbonate crystal growth data demonstrate that Otolin-1 and OC90 modulate in vitro calcite crystal morphology but neither protein is sufficient to produce the shape of otoconia Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073868" }, { "database": "PubMed", "id": "24748133", "url": "https://glygen.org/publication/PubMed/24748133" } ] }, { "annotation": "Major protein of the otoconia, a calcium carbonate structure in the saccule and utricle of the ear. Together with OTOL1, acts as a scaffold for otoconia biomineralization: sequesters calcium and forms interconnecting fibrils between otoconia that are incorporated into the calcium crystal structure. Together with OTOL1, modulates calcite crystal morphology and growth kinetics. It is unlikely that this protein has phospholipase A2 activity.", "evidence": [ { "database": "UniProtKB", "id": "Q02509", "url": "https://www.uniprot.org/uniprot/Q02509#function" }, { "database": "UniProtKB", "id": "Q9Z0L3", "url": "https://www.uniprot.org/uniprot/Q9Z0L3#function" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs755462807", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755462807" }, { "id": "rs755462807", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755462807" }, { "id": "rs755462807", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755462807" } ], "glycoeffect": [ "n-glyco-sequon-loss", "n-glyco-sequon-gain" ], "start_pos": 38, "end_pos": 38, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->SIT); n-glyco-sequon-gain (NIN->NIS).", "chr_id": "8", "chr_pos": "132044489", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N38", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1392342118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1392342118" }, { "id": "rs1392342118", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1392342118" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 111, "end_pos": 111, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "8", "chr_pos": "132041538", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D111", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1586710476", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1586710476" }, { "id": "rs1586710476", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1586710476" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 179, "end_pos": 179, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->KSS).", "chr_id": "8", "chr_pos": "132039044", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N179", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q02509", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q02509" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 202, "end_pos": 202, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "8", "chr_pos": "132038814", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D202", "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": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1195439066", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1195439066" }, { "id": "rs1195439066", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1195439066#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 219, "end_pos": 219, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SLT->NLT).", "chr_id": "8", "chr_pos": "132037461", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S219", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q02509", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q02509" } ], "glycoeffect": [], "start_pos": 322, "end_pos": 322, "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": "8", "chr_pos": "132031948", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E322", "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": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] }, { "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 in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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" } ] }, { "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. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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 large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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": "Q02509", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q02509" } ], "glycoeffect": [], "start_pos": 335, "end_pos": 335, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "8", "chr_pos": "132031908", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R335", "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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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "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": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "Q02509", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q02509" } ], "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 in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q02509", "url": "https://www.uniprot.org/uniprot/Q02509" } ], "common_name": "Human" } ], "gene": [ { "name": "OC90", "url": "https://www.uniprot.org/uniprot/Q02509", "locus": { "chromosome": "8", "start_pos": 132024216, "end_pos": 132059382, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000253117", "url": "https://www.ensembl.org/id/ENSG00000253117" } ] } } ], "crossref": [ { "id": "ENSG00000253117", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000253117", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q02509", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q02509", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd04707", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd04707", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "OC90", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=OC90", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "729330", "url": "https://www.ncbi.nlm.nih.gov/gene/729330", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "8100", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=8100", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR001211", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001211", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016090", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016090", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033112", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033112", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR033113", "url": "https://www.ebi.ac.uk/interpro/entry/IPR033113", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036444", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036444", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR041798", "url": "https://www.ebi.ac.uk/interpro/entry/IPR041798", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:729330", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:729330", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "601658", "url": "http://www.omim.org/entry/601658", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q02509", "url": "https://www.nextprot.org/entry/NX_Q02509", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "HCEHLLC", "url": "https://omabrowser.org/oma/group/HCEHLLC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "3808788at2759", "url": "http://www.orthodb.org/?query=3808788at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11716", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11716", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11716:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11716:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00068", "url": "http://pfam.xfam.org/family/PF00068", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q02509", "url": "https://pharos.nih.gov/targets/Q02509", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q02509", "url": "http://purl.obolibrary.org/obo/PR_Q02509", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001073868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073868", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q02509", "url": "https://www.uniprot.org/uniprot/Q02509", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q02509-1", "url": "https://www.uniprot.org/uniprot/Q02509-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q02509-3", "url": "https://www.uniprot.org/uniprot/Q02509-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MIAFLLTSVLMIPHAGGHPLDTPHLPQELPPGLPNNINITFFSGMFKNVESVAEIFDCLGPHFTWLQAVFTNFPVLIQFVNGMKCVAGLCPRDFEDYGCTCRFEMEGLPVDESDSCCFQHRRCYEEAAEMDCLQDPAKLSTEVNCVSKKIICESKDNCEHLLCTCDKAAIECLARSSLNSSLNLLDTSFCLAQTPETTIKEDLTTLLPRVVPVEPTDTSLTALSGEEAGHDQEGVGAARATSPPGSAEIVATRVTAKIVTLVPAGIKSLGLAVSSVENDPEETTEKACDRFTFLHLGSGDNMQVMPQLGEMLFCLTSRCPEEFESYGCYCGQEGRGEPRDDLDRCCLSHHCCLEQVRRLGCLLERLPWSPVVCVDHTPKCGGQSLCEKLLCACDQTAAECMTSASFNQSLKSPSRLGCPGQPAACEDSLHPVPAAPTLGSSSEEDSEEDPPQEDLGRAKRFLRKSLGPLGIGPLHGR", "length": 477, "header": "sp|Q02509-1|OC90_HUMAN Isoform 1 of Otoconin-90 OS=Homo sapiens OX=9606 GN=OC90 PE=2 SV=4 CANONICAL=Q02509-1" }, "isoforms": [ { "isoform_ac": "Q02509-1", "url": "", "sequence": { "sequence": "MIAFLLTSVLMIPHAGGHPLDTPHLPQELPPGLPNNINITFFSGMFKNVESVAEIFDCLGPHFTWLQAVFTNFPVLIQFVNGMKCVAGLCPRDFEDYGCTCRFEMEGLPVDESDSCCFQHRRCYEEAAEMDCLQDPAKLSTEVNCVSKKIICESKDNCEHLLCTCDKAAIECLARSSLNSSLNLLDTSFCLAQTPETTIKEDLTTLLPRVVPVEPTDTSLTALSGEEAGHDQEGVGAARATSPPGSAEIVATRVTAKIVTLVPAGIKSLGLAVSSVENDPEETTEKACDRFTFLHLGSGDNMQVMPQLGEMLFCLTSRCPEEFESYGCYCGQEGRGEPRDDLDRCCLSHHCCLEQVRRLGCLLERLPWSPVVCVDHTPKCGGQSLCEKLLCACDQTAAECMTSASFNQSLKSPSRLGCPGQPAACEDSLHPVPAAPTLGSSSEEDSEEDPPQEDLGRAKRFLRKSLGPLGIGPLHGR", "length": 477, "header": "sp|Q02509-1|OC90_HUMAN Isoform 1 of Otoconin-90 OS=Homo sapiens OX=9606 GN=OC90 PE=2 SV=4 CANONICAL=Q02509-1" }, "locus": { "chromosome": "8", "start_pos": 132055026, "end_pos": 132024484, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000254627.4", "url": "https://www.ensembl.org/id/ENST00000254627.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000254627.3", "url": "https://www.ensembl.org/id/ENSP00000254627.3" } ] } }, { "isoform_ac": "Q02509-3", "url": "", "sequence": { "sequence": "MIAFLLTSVLMIPHAGGHPLDTPHLPQELPPGLPNNINITFFSGMFKNVESVAEIFDCLGPHFTWLQAVFTNFPVLIQFVNGMKCVAGLCPRDFEDYGCTCRFEMEGLPVDESDSCCFQHRRCYEEAAEMDCLQDPAKLSTEVNCVSKKIICESKDNCEHLLCTCDKAAIECLARSSLNSSLNLLDTSFCLAQTPETTIKEDLTTLLPRVVPVEPTDTSLTALSGEVAAETEADRLITLSKKKAGHDQEGVGAARATSPPGSAEIVATRVTAKIVTLVPAGIKSLGLAVSSVENDPEETTEKACDRFTFLHLGSGDNMQVMPQLGEMLFCLTSRCPEEFESYGCYCGQEGRGEPRDDLDRCCLSHHCCLEQVRRLGCLLERLPWSPVVCVDHTPKCGGQSLCEKLLCACDQTAAECMTSASFNQSLKSPSRLGCPGQPAACEDSLHPVPAAPTLGSSSEEDSEEDPPQEDLGRAKRFLRKSLGPLGIGPLHGR", "length": 493, "header": "sp|Q02509-3|OC90_HUMAN Isoform 3 of Otoconin-90 OS=Homo sapiens OX=9606 GN=OC90 PE=2 SV=4 CANONICAL=Q02509-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "Q02509", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02509#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 38, "start_aa": "Asn", "end_pos": 38, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn38", "evidence": [ { "id": "Q02509", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02509#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 407, "start_aa": "Asn", "end_pos": 407, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn407", "evidence": [ { "id": "Q02509", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q02509#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "In vitro calcite crystal morphology is modulated by otoconial proteins otolin-1 and otoconin-90.", "journal": "PloS one", "date": "2014", "authors": "Moreland KT, Hong M, Lu W, Rowley CW, Ornitz DM, De Yoreo JJ, Thalmann R", "evidence": [ { "database": "RefSeq", "id": "NP_001073868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073868" } ], "reference": [ { "type": "PubMed", "id": "24748133", "url": "https://glygen.org/publication/PubMed/24748133" } ] }, { "title": "Splicing of a human endogenous retrovirus to a novel phospholipase A2 related gene.", "journal": "Nucleic Acids Res.", "date": "1993", "authors": "Mager D.L., Freeman J.D., Feuchter-Murthy A.E.", "evidence": [ { "database": "UniProtKB", "id": "Q02509", "url": "https://www.uniprot.org/uniprot/Q02509" } ], "reference": [ { "type": "PubMed", "id": "8382789", "url": "https://glygen.org/publication/PubMed/8382789" } ] } ], "pathway": [ { "id": "hsa:729330", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:729330", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3Z9Z1-1", "protein_name": "Otoconin 90", "gene_name": "Oc90", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MTKGLCLRYKRRPCPHLLKAKQHWIIQQPLSGASLHRSCSSLRLHLVLCMATMIVLLMVSMLTIPCVGGHALDTPNPQELPPGLSKNINITFFNGVFKNVESVTEIFDCLGSHFTWLQAVFTNFPLLLQFVNSMRCVAGLCPRDFEDYGCACRFEMEGLPLDESDSCCFQHRRCYEEAVEMDCLQDPAKLSADVDCISKQITCESEDPCERLLCTCDKAAVECLAQSGINSSLNFLDASFCLVQTPETTSGKAVTPPPRGVPEKPTDTSQIAQSGEVAGERRADTLTTLSRTKSVQDLQDIQASRTTSSPGSAEIIAIAKGTTHGSAGIKSVRLEVSSVDNSSRETTGKACGRLAFLHLGDGGSMKAMLHLGEMLFCLTSHCPEEFESYGCYCGREGRGVPRDTLDRCCLSHHCCLEQMRQLGCLHGRHSRSSVVCEHHTPKCVGQSLCEKLLCACDQMAAECMASAFFNQSLKSPDQPECQGEPVSCEDGMLGGTLASSVDSSSEENSEEAAPQMEPLRSRLQEKPSGPLGIRTLGGR", "length": 539 }, "evidence": [ { "id": "45229468", "url": "http://www.informatics.jax.org/homology/45229468", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9Z0L3-1", "protein_name": "Otoconin-90", "gene_name": "Oc90", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MIMLLMVGMLMAPCVGAHALDTPNPQELPPGLSKNINITFFNGVFKNVESVAEIFDCLGSHFTWLQAVFTNFPLLLQFVNSMRCVTGLCPRDFEDYGCACRFEMEGMPVDESDICCFQHRRCYEEAVEMDCLQDPAKLSADVDCTNKQITCESEDPCERLLCTCDKAAVECLAQSGINSSLNFLDASFCLPQTPETTSGKAATLLPRGIPEKPTDTSQIALSGEVAGEVRADTLTTLSRTKSVQDLQDTQASRTTSSPGSAEIIALAKGTTHSAGIKPLRLGVSSVDNGSQEAAGKACDRLAFVHLGDGDSMTAMLQLGEMLFCLTSHCPEEFETYGCYCGREGRGEPRDTLDRCCLSHHCCLEQMRQVGCLHGRRSQSSVVCEDHMAKCVGQSLCEKLLCACDQMAAECMASAFFNQSLKSPDGAECQGEPVSCEDGMLQGTLASSVDSSSEENSEEAPPQMERLRRFLEKPPGPLGARPLGGK", "length": 485 }, "evidence": [ { "id": "45229468", "url": "http://www.informatics.jax.org/homology/45229468", "database": "MGI" }, { "id": "Q02509", "url": "https://omabrowser.org/oma/group/Q02509/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "calcium-dependent phospholipase A2 activity", "id": "GO:0047498", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0047498", "evidence": [ { "database": "UniProtKB", "id": "Q02509", "url": "https://www.uniprot.org/uniprot/Q02509" } ], "pmid": "" }, { "name": "phospholipid binding", "id": "GO:0005543", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "database": "UniProtKB", "id": "Q02509", "url": "https://www.uniprot.org/uniprot/Q02509" } ], "pmid": "" }, { "name": "structural molecule activity", "id": "GO:0005198", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005198", "evidence": [ { "database": "UniProtKB", "id": "Q02509", "url": "https://www.uniprot.org/uniprot/Q02509" } ], "pmid": "" }, { "name": "calcium ion binding", "id": "GO:0005509", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "evidence": [ { "database": "UniProtKB", "id": "Q02509", "url": "https://www.uniprot.org/uniprot/Q02509" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q02509", "url": "https://www.uniprot.org/uniprot/Q02509" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q02509", "url": "https://www.uniprot.org/uniprot/Q02509" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "lipid catabolic process", "id": "GO:0016042", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016042", "evidence": [ { "database": "UniProtKB", "id": "Q02509", "url": "https://www.uniprot.org/uniprot/Q02509" } ], "pmid": "" }, { "name": "arachidonic acid secretion", "id": "GO:0050482", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050482", "evidence": [ { "database": "UniProtKB", "id": "Q02509", "url": 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