{ "uniprot_canonical_ac": "A0PK11-1", "ptm_annotation": [], "sequence": { "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", "length": 232, "sequence": "MPGWFKKAWYGLASLLSFSSFILIIVALVVPHWLSGKILCQTGVDLVNATDRELVKFIGDIYYGLFRGCKVRQCGLGGRQSQFTIFPHLVKELNAGLHVMILLLLFLALALALVSMGFAILNMIQVPYRAVSGPGGICLWNVLAGGVVALAIASFVAAVKFHDLTERIANFQEKLFQFVVVEEQYEESFWICVASASAHAANLVVVAISQIPLPEIKTKIEEATVTAEDILY" }, "uniprot_id": "CLRN2_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PK11", "id": "A0PK11", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12080385", "type": [ "PubMed" ], "id": "12080385" } ], "title": "USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses.", "journal": "European journal of human genetics : EJHG", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296.1", "id": "NP_001073296.1", "database": "RefSeq" } ], "authors": "Adato A, Vreugde S, Joensuu T, Avidan N, Hamalainen R, Belenkiy O, Olender T, Bonne-Tamir B, Ben-Asher E, Espinos C, Millan JM, Lehesjoki AE, Flannery JG, Avraham KB, Pietrokovski S, Sankila EM, Beckmann JS, Lancet D", "date": "2002" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/31448880", "type": [ "PubMed" ], "id": "31448880" } ], "title": "Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.", "journal": "EMBO molecular medicine", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296.1", "id": "NP_001073296.1", "database": "RefSeq" } ], "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", "date": "2019" } ], "uniprot_ac": "A0PK11", "site_annotation": [ { "end_pos": 50, "annotation": "n_glycosylation_sequon", "start_pos": 48 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0PK11#A0PK11-1", "isoform_ac": "A0PK11-1", "locus": { "end_pos": 17515267, "strand": "-", "start_pos": 17527079, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000511148", "id": "ENST00000511148", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000424711", "id": "ENSP00000424711", "database": "Ensembl Peptide" } ] }, "sequence": { "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", "length": 232, "sequence": "MPGWFKKAWYGLASLLSFSSFILIIVALVVPHWLSGKILCQTGVDLVNATDRELVKFIGDIYYGLFRGCKVRQCGLGGRQSQFTIFPHLVKELNAGLHVMILLLLFLALALALVSMGFAILNMIQVPYRAVSGPGGICLWNVLAGGVVALAIASFVAAVKFHDLTERIANFQEKLFQFVVVEEQYEESFWICVASASAHAANLVVVAISQIPLPEIKTKIEEATVTAEDILY" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:645104", "resource": "KEGG Pathway", "id": "hsa:645104", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296.1", "annotation": "Utilizing data from the UK Biobank study, we could show that CLRN2 is involved in human non-syndromic progressive hearing loss.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296.1", "id": "NP_001073296.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "B2RVW2-1", "protein_name": "Clarin 2", "sequence": { "length": 232, "sequence": "MPGWFKKVWYGLASLLSFSSFLLIIVALSLPHWLSGKILCQTGVDLVNATDPELVKFIGDIYYGLFRGCKVRQCGLGGRQSQFTIFPHLVKELNAGLHVTILLLLFLALALALVSMGFAILNIIQVPYRAVNGPGGICLWNVLAGGVVALAIGSFMAAVKFHDLTERIANFQERLFQFVVVEEQYEESFWICVASASAHAANLVVVAISQIPLPEIKTKMEEATVTPEDILY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/84057", "id": "84057", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0PK11/", "id": "A0PK11", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Clrn2", "tax_id": 10090 }, { "uniprot_canonical_ac": "D3ZL71-1", "protein_name": "Clarin 2", "sequence": { "length": 232, "sequence": "MPGWFKKVWYGLASLLSFSSFLLIIVALALPHWLSGKILCQTGVDLVNATDPELVKFIGDIYYGLFRGCKVRQCGLGGRQSQFTIFPHLVKELNAGLHITILLLLFLALALALVSMGFAILNIIQVPYRAVNGPGGICLWNVLAGGVVALAISSFMAAVKFHDLTERIANFQERLFQFVVVEEQYEESFWICVASASAHAANLVVVAISQIPLPEVKTKMEEATVTPEDILY" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/84057", "id": "84057", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0PK11/", "id": "A0PK11", "database": "OMA" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Clrn2", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "L", "start_pos": 104, "alt_nt": "A", "chr_id": "4", "ref_nt": "C", "chr_pos": "17524543", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:1324", "url": "http://disease-ontology.org/term/DOID:1324", "resource": "Disease Ontology", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK11", "id": "A0PK11", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "I", "subjects_tested": "1514", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 2 out of 6 filters: patient freq. (1.1%); patient count (16/1514).", "end_pos": 104, "minor_allelic_frequency": "", "subjects_positive": "16" }, { "sequence_org": "V", "start_pos": 114, "alt_nt": "C", "chr_id": "4", "ref_nt": "T", "chr_pos": "17524574", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK11", "id": "A0PK11", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "A", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 114, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "A", "start_pos": 119, "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "17524589", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK11", "id": "A0PK11", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 119, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "I", "alt_nt": "null", "chr_id": "4", "ref_nt": "C", "chr_pos": "17522981T>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201022806", "id": "rs201022806", "database": "dbSNP" }, { "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201022806", "id": "rs201022806", "database": "1000Genomes" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201022806", "id": "rs201022806", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs201022806#frequency_tab", "id": "rs201022806", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs201022806", "id": "rs201022806", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "T", "start_pos": 124, "keywords": [ "ebi", "germline" ], "end_pos": 124, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMI->NMT)." }, { "sequence_org": "V", "start_pos": 147, "alt_nt": "G", "chr_id": "4", "ref_nt": "T", "chr_pos": "17528446", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK11", "id": "A0PK11", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "G", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 147, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "A", "start_pos": 153, "alt_nt": "A", "chr_id": "4", "ref_nt": "G", "chr_pos": "17528463", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK11", "id": "A0PK11", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "1.1", "sequence_mut": "T", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 153, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "D", "alt_nt": "null", "chr_id": "4", "ref_nt": "A", "chr_pos": "17526870G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758709903", "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/rs758709903#frequency_tab", "id": "rs758709903", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs758709903", "id": "rs758709903", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 163, "keywords": [ "ebi", "germline" ], "end_pos": 163, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLT->NLT)." }, { "sequence_org": "S", "alt_nt": "null", "chr_id": "4", "ref_nt": "A", "chr_pos": "17526967G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1204830784", "id": "rs1204830784", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1204830784#frequency_tab", "id": "rs1204830784", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1204830784", "id": "rs1204830784", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 195, "keywords": [ "ebi", "germline" ], "end_pos": 195, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SAS->NAS)." }, { "sequence_org": "N", "alt_nt": "null", "chr_id": "4", "ref_nt": "G", "chr_pos": "17515408A>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369621250", "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/rs369621250#frequency_tab", "id": "rs369621250", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs369621250", "id": "rs369621250", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "sequence_mut": "D", "start_pos": 48, "keywords": [ "ebi", "germline" ], "end_pos": 48, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->DAT)." }, { "sequence_org": "T", "alt_nt": "null", "chr_id": "4", "ref_nt": "T", "chr_pos": "17515415C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1451859900", "id": "rs1451859900", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs1451859900#frequency_tab", "id": "rs1451859900", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_mut": "I", "start_pos": 50, "keywords": [ "ebi", "germline" ], "end_pos": 50, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NAT->NAI)." } ], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296.1", "ac": "NP_001073296.1", "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]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PK11", "id": "A0PK11", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" } ], "total": 1, "name": "Cellular Component" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0PK11", "type": "synonym", "resource": "RefSeq", "name": "CLRN2" }, { "url": "https://www.uniprot.org/uniprot/A0PK11", "type": "recommended", "resource": "UniProtKB", "name": "CLRN2" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PK11", "id": "A0PK11", "database": "BioMuta" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CLRN2", "id": "CLRN2", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/645104", "id": "645104", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=33939", "id": "33939", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0PK11*", "id": "A0PK11", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026748", "id": "IPR026748", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:645104", "id": "hsa:645104", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/618988", "id": "618988", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A0PK11", "id": "NX_A0PK11", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/CGLGGRQ/", "id": "CGLGGRQ", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1188976at2759", "id": "1188976at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31548", "id": "PTHR31548", "database": "PANTHER" }, { "url": "https://pharos.nih.gov/targets/A0PK11", "id": "A0PK11", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A0PK11", "id": "PR_A0PK11", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073296.1", "id": "NP_001073296.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A0PK11", "id": "A0PK11", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "tumor of the prostate", "description": "" } ], "recommended_name": { "id": "DOID:10283", "url": "http://disease-ontology.org/term/DOID:10283", "resource": "Disease Ontology", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PK11", "id": "A0PK11", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "primary malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ], "recommended_name": { "id": "DOID:3571", "url": "http://disease-ontology.org/term/DOID:3571", "resource": "Disease Ontology", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PK11", "id": "A0PK11", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3571", "significant": "No" }, { "name": "Lung squamous cell carcinoma [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "Epidermoid cell carcinoma of the lung", "description": "" } ], "recommended_name": { "id": "DOID:3907", "url": "http://disease-ontology.org/term/DOID:3907", "resource": "Disease Ontology", "name": "lung squamous cell carcinoma", "description": "A non-small cell lung carcinoma that has_material_basis_in the squamous cell." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PK11", "id": "A0PK11", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3907", "significant": "No" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "recommended_name": { "id": "DOID:3910", "url": "http://disease-ontology.org/term/DOID:3910", "resource": "Disease Ontology", "name": "lung adenocarcinoma", "description": "A lung cancer that derives_from epithelial cells of glandular origin." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PK11", "id": "A0PK11", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:3910", "significant": "No" }, { "name": "Esophageal cancer [DO disease name]", "trend": "Down", "disease": [ { "synonyms": [ { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of lower third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of middle third of oesophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of proximal third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant neoplasm of upper third esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Distal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of Proximal Third of esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of abdominal esophagus", "description": "" }, { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "malignant tumor of the middle Third of the esophagus", "description": "" } ], "recommended_name": { "id": "DOID:5041", "url": "http://disease-ontology.org/term/DOID:5041", "resource": "Disease Ontology", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PK11", "id": "A0PK11", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:5041", "significant": "No" } ], "glycosylation": [ { "residue": "Asn", "site_category": "predicted", "end_pos": 48, "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PK11#ptm_processing", "id": "A0PK11", "database": "UniProtKB" } ], "subtype": "", "relation": "attached", "start_pos": 48, "glytoucan_ac": "", "type": "N-linked" } ], "mutagenesis": [], "disease": [], "phosphorylation": [], "mass": { "monoisotopic_mass": 25446.0, "chemical_mass": 25446.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000249581", "id": "ENSG00000249581", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0PK11", "name": "CLRN2", "locus": { "end_pos": 17527104, "strand": "+", "start_pos": 17515165, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000249581", "id": "ENSG00000249581", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0PK11#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Clarin-2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0PK11", "type": "synonym", "resource": "RefSeq", "name": "clarin-2" } ] }