{ "uniprot_canonical_ac": "A0PK11-1", "uniprot_ac": "A0PK11", "uniprot_id": "CLRN2_HUMAN", "mass": { "chemical_mass": 25446.0, "monoisotopic_mass": 25446.0 }, "refseq": { "ac": "NP_001073296", "name": "clarin-2", "summary": "This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296" }, "gene_names": [ { "name": "CLRN2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0PK11", "id": "A0PK11" }, { "name": "CLRN2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296", "id": "NP_001073296" }, { "name": "DFNB117", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296", "id": "NP_001073296" } ], "protein_names": [ { "name": "Clarin-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "A0PK11" }, { "name": "clarin-2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296", "id": "NP_001073296" } ], "function": [ { "annotation": "A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.", "evidence": [ { "database": "RefSeq", "id": "NP_001073296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296" }, { "database": "PubMed", "id": "33496845", "url": "https://glygen.org/publication/PubMed/33496845" } ] }, { "annotation": "Plays a key role to hearing function. Required for normal organization and maintenance of the stereocilia bundle and for mechano-electrical transduction.", "evidence": [ { "database": "UniProtKB", "id": "A0PK11", "url": "https://www.uniprot.org/uniprot/A0PK11#function" }, { "database": "UniProtKB", "id": "B2RVW2", "url": "https://www.uniprot.org/uniprot/B2RVW2#function" } ] }, { "annotation": "This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001073296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296" } ] }, { "annotation": "Utilizing data from the UK Biobank study, we could show that CLRN2 is involved in human non-syndromic progressive hearing loss.", "evidence": [ { "database": "RefSeq", "id": "NP_001073296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296" }, { "database": "PubMed", "id": "31448880", "url": "https://glygen.org/publication/PubMed/31448880" } ] } ], "disease": [ { "disease_id": "MONDO:0030905", "recommended_name": { "id": "MONDO:0030905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030905", "name": "hearing loss, autosomal recessive 117", "description": "" }, "synonyms": [ { "id": "MONDO:0030905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030905", "name": "DFNB117", "description": "" }, { "id": "MONDO:0030905", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030905", "name": "deafness, autosomal recessive 117", "description": "" }, { "id": "MIM:619174", "resource": "MIM", "url": "https://www.omim.org/entry/619174", "name": "Deafness, autosomal recessive, 117", "description": "Deafness, autosomal recessive, 117" } ], "evidence": [ { "id": "619174", "database": "MIM", "url": "https://www.omim.org/entry/619174" } ] } ], "snv": [ { "evidence": [ { "id": "rs201022806", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201022806" }, { "id": "rs201022806", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201022806" }, { "id": "rs201022806", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201022806" }, { "id": "rs201022806", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs201022806#frequency_tab" }, { "id": "rs201022806", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201022806" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 124, "end_pos": 124, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMI->NMT).", "chr_id": "4", "chr_pos": "17522981", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758709903", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758709903" }, { "id": "rs758709903", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758709903" }, { "id": "rs758709903", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758709903" }, { "id": "rs758709903", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs758709903#frequency_tab" }, { "id": "rs758709903", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758709903" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 163, "end_pos": 163, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLT->NLT).", "chr_id": "4", "chr_pos": "17526870", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D163", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1204830784", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204830784" }, { "id": "rs1204830784", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1204830784#frequency_tab" }, { "id": "rs1204830784", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1204830784" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 195, "end_pos": 195, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAS->NAS).", "chr_id": "4", "chr_pos": "17526967", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S195", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369621250", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369621250" }, { "id": "rs369621250", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369621250" }, { "id": "rs369621250", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs369621250#frequency_tab" }, { "id": "rs369621250", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369621250" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 48, "end_pos": 48, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT).", "chr_id": "4", "chr_pos": "17515408", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N48", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1451859900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1451859900" }, { "id": "rs1451859900", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1451859900#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 50, "end_pos": 50, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAI).", "chr_id": "4", "chr_pos": "17515415", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T50", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "A0PK11", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK11" } ], "glycoeffect": [], "start_pos": 79, "end_pos": 79, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "H", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "4", "chr_pos": "17515502", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R79", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "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:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "18.51", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000249581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000249581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000249581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000249581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "16.34", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000249581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "16.8", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000249581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "16.88", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000249581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "16.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000249581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "14.63", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000249581", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "A0PK11", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PK11" } ], "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", 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"https://omabrowser.org/oma/group/PKWMTGK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4150254at2759", "url": "http://www.orthodb.org/?query=4150254at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR31548", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31548", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR31548:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31548:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "A0PK11", "url": "https://pharos.nih.gov/targets/A0PK11", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_A0PK11", "url": "http://purl.obolibrary.org/obo/PR_A0PK11", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001073296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0PK11", "url": "https://www.uniprot.org/uniprot/A0PK11", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0PK11-1", "url": "https://www.uniprot.org/uniprot/A0PK11-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPGWFKKAWYGLASLLSFSSFILIIVALVVPHWLSGKILCQTGVDLVNATDRELVKFIGDIYYGLFRGCKVRQCGLGGRQSQFTIFPHLVKELNAGLHVMILLLLFLALALALVSMGFAILNMIQVPYRAVSGPGGICLWNVLAGGVVALAIASFVAAVKFHDLTERIANFQEKLFQFVVVEEQYEESFWICVASASAHAANLVVVAISQIPLPEIKTKIEEATVTAEDILY", "length": 232, "header": "sp|A0PK11-1|CLRN2_HUMAN Isoform 1 of Clarin-2 OS=Homo sapiens OX=9606 GN=CLRN2 PE=1 SV=1 CANONICAL=A0PK11-1" }, "isoforms": [ { "isoform_ac": "A0PK11-1", "url": "", "sequence": { "sequence": "MPGWFKKAWYGLASLLSFSSFILIIVALVVPHWLSGKILCQTGVDLVNATDRELVKFIGDIYYGLFRGCKVRQCGLGGRQSQFTIFPHLVKELNAGLHVMILLLLFLALALALVSMGFAILNMIQVPYRAVSGPGGICLWNVLAGGVVALAIASFVAAVKFHDLTERIANFQEKLFQFVVVEEQYEESFWICVASASAHAANLVVVAISQIPLPEIKTKIEEATVTAEDILY", "length": 232, "header": "sp|A0PK11-1|CLRN2_HUMAN Isoform 1 of Clarin-2 OS=Homo sapiens OX=9606 GN=CLRN2 PE=1 SV=1 CANONICAL=A0PK11-1" }, "locus": { "chromosome": "4", "start_pos": 17527079, "end_pos": 17515267, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511148.2", "url": "https://www.ensembl.org/id/ENST00000511148.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000424711.2", "url": "https://www.ensembl.org/id/ENSP00000424711.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 48, "start_aa": "Asn", "end_pos": 48, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn48", "evidence": [ { "id": "A0PK11", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/A0PK11#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.", "journal": "EMBO molecular medicine", "date": "2019", "authors": "Dunbar LA, Patni P, Aguilar C, Mburu P, Corns L, Wells HR, Delmaghani S, Parker A, Johnson S, Williams D, Esapa CT, Simon MM, Chessum L, Newton S, Dorning J, Jeyarajan P, Morse S, Lelli A, Codner GF, Peineau T, Gopal SR, Alagramam KN, Hertzano R, Dulon D, Wells S, Williams FM, Petit C, Dawson SJ, Brown SD, Marcotti W, El-Amraoui A, Bowl MR", "evidence": [ { "database": "RefSeq", "id": "NP_001073296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296" } ], "reference": [ { "type": "PubMed", "id": "31448880", "url": "https://glygen.org/publication/PubMed/31448880" } ] }, { "title": "A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.", "journal": "Human genetics", "date": "2021", "authors": "Vona B, Mazaheri N, Lin SJ, Dunbar LA, Maroofian R, Azaiez H, Booth KT, Vitry S, Rad A, Ruschendorf F, Varshney P, Fowler B, Beetz C, Alagramam KN, Murphy D, Shariati G, Sedaghat A, Houlden H, Petree C, VijayKumar S, Smith RJH, Haaf T, El-Amraoui A, Bowl MR, Varshney GK, Galehdari H", "evidence": [ { "database": "UniProtKB", "id": "A0PK11", "url": "https://www.uniprot.org/uniprot/A0PK11" }, { "database": "RefSeq", "id": "NP_001073296", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296" } ], "reference": [ { "type": "PubMed", "id": "33496845", "url": "https://glygen.org/publication/PubMed/33496845" } ] } ], "pathway": [ { "id": "hsa:645104", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:645104", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "B2RVW2-1", "protein_name": "Clarin-2", "gene_name": "Clrn2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPGWFKKVWYGLASLLSFSSFLLIIVALSLPHWLSGKILCQTGVDLVNATDPELVKFIGDIYYGLFRGCKVRQCGLGGRQSQFTIFPHLVKELNAGLHVTILLLLFLALALALVSMGFAILNIIQVPYRAVNGPGGICLWNVLAGGVVALAIGSFMAAVKFHDLTERIANFQERLFQFVVVEEQYEESFWICVASASAHAANLVVVAISQIPLPEIKTKMEEATVTPEDILY", "length": 232 }, "evidence": [ { "id": "45932232", "url": "http://www.informatics.jax.org/homology/45932232", "database": "MGI" }, { "id": "A0PK11", "url": "https://omabrowser.org/oma/group/A0PK11/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "D3ZL71-1", "protein_name": "Clarin 2", "gene_name": "Clrn2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPGWFKKVWYGLASLLSFSSFLLIIVALALPHWLSGKILCQTGVDLVNATDPELVKFIGDIYYGLFRGCKVRQCGLGGRQSQFTIFPHLVKELNAGLHITILLLLFLALALALVSMGFAILNIIQVPYRAVNGPGGICLWNVLAGGVVALAISSFMAAVKFHDLTERIANFQERLFQFVVVEEQYEESFWICVASASAHAANLVVVAISQIPLPEVKTKMEEATVTPEDILY", "length": 232 }, "evidence": [ { "id": "45932232", "url": "http://www.informatics.jax.org/homology/45932232", "database": "MGI" }, { "id": "A0PK11", "url": "https://omabrowser.org/oma/group/A0PK11/", "database": "OMA" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "A0PK11", "url": "https://www.uniprot.org/uniprot/A0PK11" } ], "pmid": "" }, { "name": "auditory receptor cell stereocilium organization", "id": "GO:0060088", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060088", "evidence": [ { "database": "UniProtKB", "id": "A0PK11", "url": "https://www.uniprot.org/uniprot/A0PK11" } ], "pmid": "" }, { "name": "stereocilium maintenance", "id": "GO:0120045", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120045", "evidence": [ { "database": "UniProtKB", "id": "A0PK11", "url": "https://www.uniprot.org/uniprot/A0PK11" } ], "pmid": "" } ] }, { "name": "Cellular 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