{ "uniprot_canonical_ac": "A6NGG8-1", "uniprot_ac": "A6NGG8", "uniprot_id": "PCARE_HUMAN", "mass": { "chemical_mass": 139655.0, "monoisotopic_mass": 139655.0 }, "refseq": { "ac": "NP_001025054", "name": "photoreceptor cilium actin regulator", "summary": "The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" }, "gene_names": [ { "name": "PCARE", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A6NGG8", "id": "A6NGG8" }, { "name": "C2orf71; RP54", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054", "id": "NP_001025054" }, { "name": "C2orf71", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/A6NGG8", "id": "A6NGG8" }, { "name": "PCARE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054", "id": "NP_001025054" } ], "protein_names": [ { "name": "Photoreceptor cilium actin regulator", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A6NGG8" }, { "name": "photoreceptor cilium actin regulator", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054", "id": "NP_001025054" }, { "name": "uncharacterized protein C2orf71", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054", "id": "NP_001025054" } ], "function": [ { "annotation": "A homozygous nonsense CEP250 mutation, in combination with a heterozygous C2orf71 nonsense mutation, causes an atypical form of Usher syndrome, characterised by early-onset sensorineural hearing loss and a relatively mild retinitis pigmentosa.", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" }, { "database": "PubMed", "id": "24780881", "url": "https://glygen.org/publication/PubMed/24780881" } ] }, { "annotation": "Association of chromosome 2 open reading frame 71 in colorectal cancer susceptibility.", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" }, { "database": "PubMed", "id": "36396885", "url": "https://glygen.org/publication/PubMed/36396885" } ] }, { "annotation": "C2ORF71 is a highly polymorphic gene (average heterozygosity of coding region in controls: 2.118 x 10(-3)) with many rare variants that confound mutation detection. GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" }, { "database": "PubMed", "id": "20811058", "url": "https://glygen.org/publication/PubMed/20811058" } ] }, { "annotation": "Discovery and functional analysis of a retinitis pigmentosa gene, C2orf71, are reported.", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" }, { "database": "PubMed", "id": "20398886", "url": "https://glygen.org/publication/PubMed/20398886" } ] }, { "annotation": "Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa.", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" }, { "database": "PubMed", "id": "20398884", "url": "https://glygen.org/publication/PubMed/20398884" } ] }, { "annotation": "Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort.", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" }, { "database": "PubMed", "id": "21412943", "url": "https://glygen.org/publication/PubMed/21412943" } ] }, { "annotation": "On the basis of our multicenter analysis, C2orf71 might represent a more frequently mutated gene in autosomal recessive retinitis pigmentosa in some populations.", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" }, { "database": "PubMed", "id": "28763557", "url": "https://glygen.org/publication/PubMed/28763557" } ] }, { "annotation": "Plays an essential role for normal photoreceptor cell maintenance and vision.", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8#function" }, { "database": "PubMed", "id": "20398886", "url": "https://glygen.org/publication/PubMed/20398886" } ] }, { "annotation": "The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa. [provided by RefSeq, Jun 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" } ] }, { "annotation": "We propose that the combination of heterozygous loss-of-function mutations in these genes drives syndromic retinal dystrophy, likely through the genetic interaction of at least two loci.", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" }, { "database": "PubMed", "id": "27029556", "url": "https://glygen.org/publication/PubMed/27029556" } ] } ], "disease": [ { "disease_id": "DOID:0110364", "recommended_name": { "id": "DOID:0110364", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110364", "name": "retinitis pigmentosa 54", "description": "A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23." }, "synonyms": [ { "id": "DOID:0110364", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110364", "name": "RP54", "description": "" }, { "id": "MONDO:0013263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013263", "name": "retinitis pigmentosa 54", "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene." }, { "id": "MONDO:0013263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013263", "name": "PCARE retinitis pigmentosa", "description": "" }, { "id": "MONDO:0013263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013263", "name": "RP54", "description": "" }, { "id": "MONDO:0013263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013263", "name": "retinitis pigmentosa 54", "description": "" }, { "id": "MONDO:0013263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013263", "name": "retinitis pigmentosa caused by mutation in PCARE", "description": "" }, { "id": "MONDO:0013263", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013263", "name": "retinitis pigmentosa type 54", "description": "" }, { "id": "MIM:613428", "resource": "MIM", "url": "https://www.omim.org/entry/613428", "name": "Retinitis pigmentosa 54", "description": "Retinitis pigmentosa 54" } ], "evidence": [ { "id": "613428", "database": "MIM", "url": "https://www.omim.org/entry/613428" } ] } ], "snv": [ { "evidence": [ { "id": "A6NGG8", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NGG8" } ], "glycoeffect": [], "start_pos": 1161, "end_pos": 1161, "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": "2", "chr_pos": "29070781", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "E1161", "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:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": 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"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:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": 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"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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "A6NGG8", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NGG8" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1175, "end_pos": 1175, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "2", "chr_pos": "29070738", "ref_nt": "G", "alt_nt": 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"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": "" }, { 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"" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" 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"url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A6NGG8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NGG8" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "A6NGG8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NGG8" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "A6NGG8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A6NGG8" } ], "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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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" } ], "common_name": "Human" } ], "gene": [ { "name": "PCARE", "url": "https://www.uniprot.org/uniprot/A6NGG8", "locus": { "chromosome": "2", "start_pos": 29060976, "end_pos": 29074523, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000179270", "url": "https://www.ensembl.org/id/ENSG00000179270" } ] } } ], "crossref": [ { "id": "ENSG00000179270", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179270", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "A6NGG8", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6NGG8", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "PCARE", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PCARE", "database": "GeneCards", "categories": [ 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"length": 1288, "header": "sp|A6NGG8-1|PCARE_HUMAN Isoform 1 of Photoreceptor cilium actin regulator OS=Homo sapiens OX=9606 GN=PCARE PE=1 SV=1 CANONICAL=A6NGG8-1" }, "isoforms": [ { "isoform_ac": "A6NGG8-1", "url": "", "sequence": { "sequence": 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"length": 1288, "header": "sp|A6NGG8-1|PCARE_HUMAN Isoform 1 of Photoreceptor cilium actin regulator OS=Homo sapiens OX=9606 GN=PCARE PE=1 SV=1 CANONICAL=A6NGG8-1" }, "locus": { "chromosome": "2", "start_pos": 29074261, "end_pos": 29064872, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000331664.6", "url": "https://www.ensembl.org/id/ENST00000331664.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000332809.4", "url": "https://www.ensembl.org/id/ENSP00000332809.4" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 273, "end_pos": 273, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A6NGG8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A6NGG8" }, { "database": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ], "site_lbl": "Tyr273" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Multiple myeloma phosphotyrosine proteomic profile associated with FGFR3 expression, ligand activation, and drug inhibition.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2009", "authors": "St-Germain JR, Taylor P, Tong J, Jin LL, Nikolic A, Stewart II, Ewing RM, Dharsee M, Li Z, Trudel S, Moran MF", "evidence": [ { "database": "iPTMnet", "id": "A6NGG8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A6NGG8" } ], "reference": [ { "type": "PubMed", "id": "19901323", "url": "https://glygen.org/publication/PubMed/19901323" } ] }, { "title": "Mutations in C2orf71 cause autosomal-recessive retinitis pigmentosa.", "journal": "Am. J. Hum. Genet.", "date": "2010", "authors": "Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" }, { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" } ], "reference": [ { "type": "PubMed", "id": "20398884", "url": "https://glygen.org/publication/PubMed/20398884" } ] }, { "title": "Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.", "journal": "American journal of human genetics", "date": "2010", "authors": "Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" }, { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" } ], "reference": [ { "type": "PubMed", "id": "20398886", "url": "https://glygen.org/publication/PubMed/20398886" } ] }, { "title": "A survey of DNA variation of C2ORF71 in probands with progressive autosomal recessive retinal degeneration and controls.", "journal": "Investigative ophthalmology & visual science", "date": "2011", "authors": "Sergouniotis PI, Li Z, Mackay DS, Wright GA, Borman AD, Devery SR, Moore AT, Webster AR", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" } ], "reference": [ { "type": "PubMed", "id": "20811058", "url": "https://glygen.org/publication/PubMed/20811058" } ] }, { "title": "Novel C2orf71 mutations account for approximately 1% of cases in a large French arRP cohort.", "journal": "Human mutation", "date": "2011", "authors": "Audo I, Lancelot ME, Mohand-Said S, Antonio A, Germain A, Sahel JA, Bhattacharya SS, Zeitz C", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" }, { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" } ], "reference": [ { "type": "PubMed", "id": "21412943", "url": "https://glygen.org/publication/PubMed/21412943" } ] }, { "title": "A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.", "journal": "Journal of medical genetics", "date": "2014", "authors": "Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" }, { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" } ], "reference": [ { "type": "PubMed", "id": "24780881", "url": "https://glygen.org/publication/PubMed/24780881" } ] }, { "title": "Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.", "journal": "Ophthalmic genetics", "date": "2017", "authors": "Liu YP, Bosch DG, Siemiatkowska AM, Rendtorff ND, Boonstra FN, Moller C, Tranebjaerg L, Katsanis N, Cremers FP", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" } ], "reference": [ { "type": "PubMed", "id": "27029556", "url": "https://glygen.org/publication/PubMed/27029556" } ] }, { "title": "C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.", "journal": "Investigative ophthalmology & visual science", "date": "2017", "authors": "Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" } ], "reference": [ { "type": "PubMed", "id": "28763557", "url": "https://glygen.org/publication/PubMed/28763557" } ] }, { "title": "A Novel Potentially Causative Variant of NDUFAF7 Revealed by Mutation Screening in a Chinese Family With Pathologic Myopia.", "journal": "Investigative ophthalmology & visual science", "date": "2017", "authors": "Wang B, Liu Y, Chen S, Wu Y, Lin S, Duan Y, Zheng K, Zhang L, Gu X, Hong W, Shao H, Zeng X, Sun B, Duan S", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" } ], "reference": [ { "type": "PubMed", "id": "28837730", "url": "https://glygen.org/publication/PubMed/28837730" } ] }, { "title": "Novel mutations in c2orf71 causing an early onset form of cone-rod dystrophy: A molecular diagnosis after 20 years of clinical follow-up.", "journal": "Mol. Vis.", "date": "2019", "authors": "Serra Rita, Floris Matteo, Pinna Antonio, Boscia Francesco, Cucca Francesco, Angius Andrea", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" } ], "reference": [ { "type": "PubMed", "id": "31819343", "url": "https://glygen.org/publication/PubMed/31819343" } ] }, { "title": "Association of chromosome 2 open reading frame 71 in colorectal cancer susceptibility.", "journal": "International journal of clinical oncology", "date": "2022-11-17", "authors": "Jiang Shaofeng, He Ying, Li Rongrong, Zhao Xinhan", "evidence": [ { "database": "RefSeq", "id": "NP_001025054", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001025054" } ], "reference": [ { "type": "PubMed", "id": "36396885", "url": "https://glygen.org/publication/PubMed/36396885" } ] } ], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "D3ZS67-1", "protein_name": "Photoreceptor cilium actin regulator", "gene_name": "Pcare", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGCTPSHNVIVNSVAKSGIQFFKRPKAILPGCQWGSQKCPIPLLIQSSTFCDPGGELHPGARLAEETASSRKLPDMTEGLCQLPESQTFHMNKSQSRMATDISFRTEGSHRTQEVEFSGKEGKENTPRETSERGREPKCHPSDSQDHCCQTVPEPKGKVDFPESLVKAHQHAYAYLHTSLSRYEAIVHLVQQASQTWELLQSMLSFLLLGFEEASQLLGEISKDGEVLLREVRGDLAWPVRKGEPWEHPDLLQQLLQYTVNKLQVVHSTVAALTGSFLEGSSSYLRATAGHLEGKLSTKRGIDECLLRALGQLESLTSGSSDPGLLGPPLCSEDSGIGADNESVHSVEKLGKQASWDFAAELGEWKPGTAAQGEARPSGHAWQKGPYWTGPDRPQDCPLSGPRIAKVQPAVQDEARSSNTSSTSPEAVTSRPPEAAKSIPWDSLGTEIPVQTQLSRRSSGLMGSPYLSGDEDSSPEEEDELGSTDLHPEPQKALPSRPQSSPDPRESLFQPYSTKLRSPQAQEMILKMKEAISERIKFVPVPSRPQDWAEEEEGRSVVPPRPRSVSGCRRAPERQRRSQSEGCLKSHVEDPTLQELRRVQTDLSKRLEVFYALGATQQGQSREQCLPPRTSLLWPPTNCRVSPSSAISKFKASLTQNFSILPNQDKSIFQRGSPCFDSDQPCQGKAEKLPSAIFCGKKNSRAPGDNERDIRACPTRTSVKKLIETFSPTESPRMPRDCRNLGTSPCLRKWGVPAMPPRFPIYRGLAPLYPKPQISPAVGRDPLKLGMSWRPSAPFPSLPPAEASEGEDIGGEMEEDLQNLPPPPLEILMDKSFTALEHPECSLEETLLPELQEARRPKRTWASPKLKASMSPMDLLPSKGNGSSPRLQGTRPGSTSNVGNSRKLTLDLNSQQTANPSPEAEGGAQIQAPPENTAGLSKHHQKAIPRHHANPTSGQSRALEPSLARFSRDPHSPEASRKGPERSPPGVRKASPPRAQWASQGGRRLQSLPSTHGPSQPGLRAVLSSPSPPLSPRTLSPPATRKPTSPPCQYPQSNPAPGSPPVQRTETNTPSSASSSSPSVSPSRGSKDSSHSEDSEGTTNKASRGTCSVLFPATAFCEAKSSFSTSHPQTLPEPGGLLRTPAGGWRGSAGPRLRADSQKRTVLNALDALPFVRRTASDRQRQQGDPLQLPSSDWESHPCQNSSSSSSEENAKQELPPWNNSRVPELQSSSTKWTSPLELCVLGHGLQPEARPSRSQDRSQPESQPQHKEVS", "length": 1271 }, "evidence": [ { "id": "45922938", "url": "http://www.informatics.jax.org/homology/45922938", "database": "MGI" }, { "id": "A6NGG8", "url": "https://omabrowser.org/oma/group/A6NGG8/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6PAC4-1", "protein_name": "Photoreceptor cilium actin regulator", "gene_name": "Pcare", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGCTPSHNVIVNSVAKSGIQFFKKPKAILPGCQWGSPKCPIPLLVQSSTFCDSGGELHLGERLVEETVSSSKKLQAMAEGVRQLPKAMEGLIPESQTFQVNKPQGHRATDISFRTEGSHGTQEVDFSGKESKENTPQETSKGNRESVCHQPDSQDHCRQSATESKGRVDFPEPLVKAHQHAYAYLHTSLSRYEAIVRLVQQASQTWGLLRPMLNFLLLCFEEAGQLLSEISKDGDVLLQEVRGDLAWPLRKGEPWEQHPDLLQQLLQYTVSKLRALHGTVAALTGSFLEGSSSCLRSTAGHLEGKLSTKRGIDECLLRALGQLESLTSSHGDAGLLGPPLCSEDSGIGADNESVHSVEKLGKQASWDFAAELGEWKPGTAAQVEARPSGHAWQEGPYWTGSDRPQDCPLSSPRIAKVQPAVQDEARSASTSGAGAEAVTSGPSEAAESLPWDSLGAEIPVRTPLSRSSGLTDAPSLSEEEDCSPEEEDELSSTDLHPEPQKALPSRPRSSPDTRESLFQPYSKELRNPQAQEMILKMKEAISERIKFVPEPSRPQDWTEEEEGGTVVPPRPRSVSGSRGGPERQRRSQSEGCLKSHVEDPTLQELRRVQTDLSRRLEVFYALGATRQGQSRERCLPSRASVLWPPTNCRVSPSSAISKFKASLTQNFSILPNQDKSIFQKGSPCFDGEQPCQGKAEKLPNAIFCGKKSGRAPRDNERDIRACPTRPSVKTLIETFSPTESLRMPRNCRNLGSSPCLRKWGVPAMPPRFPIYRGLAPLYSKPQISPAAGWRPSAPFPSLPLAEVSESEDISGDVEEDLENLPPPPLEVLMDKSFAALECPECSQPAGSSLEETLLPGLQEASHPKRTWVSPRLKASMSPMDLLPSKGSGSSPRLHSTRSGSTRIVGDSRKLTLDLNSKQTASPSSEAKSRAQIQARAETIAGFSKQHQKAIPWHHTNPTPGQSRTLEPSLARFSRDPHSSEASRKGPERSLPRVRKASPQRAQWASQGDRRLQSLPSSHGPSQPGLPAVLSSPSPPLSPRTLSPPATRKTTSPPCQHPQSNPAPGSPPVRRTETNTPSSASCSSPSVSPSRGSKDSIHSEDSEATTAKASRNTCSIFYPAATSLFEAKSSSSTSHPQMLPEPGGLLRTPTGGWRGSSGQRLRADSQKRTVLNALNPLPFVRRTASDRQRQQGDQLQQSRSDWEFHSCQNSSSSSSSEENPKQELPPWNNSRVPELQGSSTKRASPLELCVLGHGLQPEARMNRGQDRPQPESQPQHKEIS", "length": 1279 }, "evidence": [ { "id": "45922938", "url": "http://www.informatics.jax.org/homology/45922938", "database": "MGI" }, { "id": "A6NGG8", "url": "https://omabrowser.org/oma/group/A6NGG8/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cilium", "id": "GO:0005929", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005929", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" } ], "pmid": "" }, { "name": "photoreceptor outer segment", "id": "GO:0001750", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001750", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" } ], "pmid": "" }, { "name": "cone photoreceptor outer segment", "id": "GO:0120199", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120199", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" } ], "pmid": "" }, { "name": "photoreceptor cell outer segment organization", "id": "GO:0035845", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035845", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" } ], "pmid": "" }, { "name": "response to stimulus", "id": "GO:0050896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050896", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" } ], "pmid": "" }, { "name": "protein localization to photoreceptor outer segment", "id": "GO:1903546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903546", "evidence": [ { "database": "UniProtKB", "id": "A6NGG8", "url": "https://www.uniprot.org/uniprot/A6NGG8" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 104, "end_pos": 106, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1165, "end_pos": 1167, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1222, "end_pos": 1224, "annotation": "n_glycosylation_sequon" }, { "start_pos": 282, "end_pos": 284, "annotation": "n_glycosylation_sequon" }, { "start_pos": 356, "end_pos": 358, "annotation": "n_glycosylation_sequon" }, { "start_pos": 442, "end_pos": 444, "annotation": "n_glycosylation_sequon" }, { "start_pos": 47, "end_pos": 49, "annotation": "n_glycosylation_sequon" }, { "start_pos": 652, "end_pos": 654, "annotation": "n_glycosylation_sequon" }, { "start_pos": 661, "end_pos": 663, "annotation": "n_glycosylation_sequon" }, { "start_pos": 673, "end_pos": 675, "annotation": "n_glycosylation_sequon" }, { "start_pos": 67, "end_pos": 69, "annotation": "n_glycosylation_sequon" }, { "start_pos": 970, "end_pos": 972, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [ 29, 1161, 1175 ], "glycation_sites": [], "phosphorylation_sites": [ 273 ], "sequon_annotation_sites": [ { "start_pos": 104, "end_pos": 106 }, { "start_pos": 1165, "end_pos": 1167 }, { "start_pos": 1222, "end_pos": 1224 }, { "start_pos": 282, "end_pos": 284 }, { "start_pos": 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