{ "uniprot_canonical_ac": "A6H8M9-1", "ptm_annotation": [], "sequence": { "header": "sp|A6H8M9-1|CDHR4_HUMAN Isoform 1 of Cadherin-related family member 4 OS=Homo sapiens OX=9606 GN=CDHR4 PE=2 SV=1 CANONICAL=A6H8M9-1", "length": 788, "sequence": "MVLLRLLVFLFAPVVSDLCSLPCFINVSESQGPGTVLQFLSFNCSSYTPTPTLELLNVQPPTTFFNPPSLARWQGTYVGKLTLSSSAQLDALMVNHYKVQLKFTCGNHVMEGSLSVDVQRDLSHIQCAGQFASPAGEMIQVPETVTPGARLYTLLLPGLELHGAQMSIISAQDLPHFPGPFSINEQGWLQAPSQGLLGQAQKVFQLQISVSFGQRQSCQGMVIVKVLPVPSSQVSFLEQAQNITIPENLAPGSEVVQVQARGVDLRYEILSPVPSPLFSIGRADGVVRTTTPLELARTSGTAVSRLQVKAFEQGQLWASAKLNLTMNVQLVNLWPPRCLPALLVSQIPETAPVGTVLNTLTCEDPDSVGATLDYKLWFRSSSNPASLCLYDRVLEVNATLDCDTPGACFQHAASILVLDGGQPQMTTEVPVLVMVTPINEFSPACAPRTFRVQEDAAPHTLLGSVVGTDMDYPHDNIEYYTSGGPTTFAVDRLSGEVHLLGPLDYEQQRLYRLTVLVIDHGQDQNPNHHLSGSCTITIEVEDVNDHAPECEPPFQELTIYAPLGRSVEVTKMSCQIPQEPQRLIYSYSIVGGNSQNRFILQGAILVHSDLVLGPFWPEQPRTYELLICVADAGPSTPHLSTTATIIVHLVPRRASTVATSTHRTTVPSTMTPMLVTDTEAFWQPQPWFVVVLTATGALLLLALGWLLGRLLQGLAQLLQAPSKPAQALLLNSIQGTEGSIEGFLEAPKMEMSQAPSSVMSLHFDGRAQDSRTGRDYLFNTHTGARRWL" }, "uniprot_id": "", "glycation": [], "keywords": [ "glycoprotein", "predicted.uniprotkb_gly" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6H8M9", "id": "A6H8M9", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12975309", "type": "PubMed", "id": "12975309" } ], "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6H8M9", "id": "A6H8M9", "database": "UniProtKB" } ], "authors": "Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Clark H.F., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Goddard A.D., Godowski P.J., Gray A.M., Grimaldi C., Gu Q., Gurney A.L., Hass P.E., Heldens S., Huang A., Jin Y., Johnson S., Kim H.S., Klimowski L., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Wood W.I., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Xie M.H., Goddard A., Foster J., Mark M., Gray A., Vandlen R., Yansura D., Baldwin D., Godowski P.", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20307617", "type": "PubMed", "id": "20307617" } ], "title": "Association analysis of 3p21 with Crohn's disease in a New Zealand population.", "journal": "Human immunology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007541.2", "id": "NP_001007541.2", "database": "RefSeq" } ], "authors": "Morgan AR, Han DY, Lam WJ, Fraser AG, Ferguson LR", "date": "2010" } ], "uniprot_ac": "A6H8M9", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A6H8M9", "type": "synonym", "resource": "RefSeq", "name": "CDH29; PRO34300" }, { "url": "https://www.uniprot.org/uniprot/A6H8M9", "type": "synonym", "resource": "UniProtKB", "name": "CDH29" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A6H8M9", "type": "synonym", "resource": "RefSeq", "name": "CDHR4" }, { "url": "https://www.uniprot.org/uniprot/A6H8M9", "type": "recommended", "resource": "UniProtKB", "name": "CDHR4" }, { "url": "https://www.uniprot.org/uniprot/A6H8M9", "type": "synonym", "resource": "UniProtKB", "name": "PRO34300" } ], "reactions": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A6H8M9#A6H8M9-1", "isoform_ac": "A6H8M9-1", "locus": { "end_pos": 49790835, "strand": "+", "start_pos": 49799812, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000412678", "id": "ENST00000412678", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000391409", "id": "ENSP00000391409", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6H8M9-1|CDHR4_HUMAN Isoform 1 of Cadherin-related family member 4 OS=Homo sapiens OX=9606 GN=CDHR4 PE=2 SV=1 CANONICAL=A6H8M9-1", "length": 788, "sequence": "MVLLRLLVFLFAPVVSDLCSLPCFINVSESQGPGTVLQFLSFNCSSYTPTPTLELLNVQPPTTFFNPPSLARWQGTYVGKLTLSSSAQLDALMVNHYKVQLKFTCGNHVMEGSLSVDVQRDLSHIQCAGQFASPAGEMIQVPETVTPGARLYTLLLPGLELHGAQMSIISAQDLPHFPGPFSINEQGWLQAPSQGLLGQAQKVFQLQISVSFGQRQSCQGMVIVKVLPVPSSQVSFLEQAQNITIPENLAPGSEVVQVQARGVDLRYEILSPVPSPLFSIGRADGVVRTTTPLELARTSGTAVSRLQVKAFEQGQLWASAKLNLTMNVQLVNLWPPRCLPALLVSQIPETAPVGTVLNTLTCEDPDSVGATLDYKLWFRSSSNPASLCLYDRVLEVNATLDCDTPGACFQHAASILVLDGGQPQMTTEVPVLVMVTPINEFSPACAPRTFRVQEDAAPHTLLGSVVGTDMDYPHDNIEYYTSGGPTTFAVDRLSGEVHLLGPLDYEQQRLYRLTVLVIDHGQDQNPNHHLSGSCTITIEVEDVNDHAPECEPPFQELTIYAPLGRSVEVTKMSCQIPQEPQRLIYSYSIVGGNSQNRFILQGAILVHSDLVLGPFWPEQPRTYELLICVADAGPSTPHLSTTATIIVHLVPRRASTVATSTHRTTVPSTMTPMLVTDTEAFWQPQPWFVVVLTATGALLLLALGWLLGRLLQGLAQLLQAPSKPAQALLLNSIQGTEGSIEGFLEAPKMEMSQAPSSVMSLHFDGRAQDSRTGRDYLFNTHTGARRWL" } }, { "url": "https://www.uniprot.org/uniprot/A6H8M9#A6H8M9-2", "isoform_ac": "A6H8M9-2", "locus": { "end_pos": 49798800, "strand": "+", "start_pos": 49799812, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000343366", "id": "ENST00000343366", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000341302", "id": "ENSP00000341302", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A6H8M9-2|CDHR4_HUMAN Isoform 2 of Cadherin-related family member 4 OS=Homo sapiens OX=9606 GN=CDHR4 PE=2 SV=1 CANONICAL=A6H8M9-1", "length": 199, "sequence": "MVLLRLLVFLFAPVVSDLCSLPCFINVSESQGPGTVLQFLSFNCSSYTPTPTLELLNVQPPTTFFNPPSLARWQGTYVGKLTLSSSAQLDALMVNHYKVQLKFTCGNHVMEGSLSVDVQRDLSHIQCAGQFASPGEARGSRQGGGRHGLSRSSLTSTLASWGNDSGARDSHTWGSAVHSAPPRPRTPRSAGKPRTWDGG" } }, { "url": "https://www.uniprot.org/uniprot/A6H8M9#E9PFE8-1", "isoform_ac": "E9PFE8-1", "locus": { "end_pos": 49798769, "strand": "+", "start_pos": 49799812, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000487256", "id": "ENST00000487256", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000420677", "id": "ENSP00000420677", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PFE8-1|CDHR4_HUMAN Computationally mapped isoform of Cadherin-related family member 4 OS=Homo sapiens OX=9606 GN=CDHR4 PE=2 SV=1 CANONICAL=A6H8M9-1", "length": 184, "sequence": "MVLLRLLVFLFAPVVSDLCSLPCFINVSESQGPGTVLQFLSFNCSSYTPTPTLELLNVQPPTTFFNPPSLARWQGTYVGKLTLSSSAQLDALMVNHYKVQLKFTCGNHVMEGSLSVDVQRDLSHIQCAGQFASPAGEMIQVPETVTPGARLYTLLLPGLELHGAQVSPEHGTVGDRMGVGGWRE" } }, { "url": "https://www.uniprot.org/uniprot/A6H8M9#H7C4N6-1", "isoform_ac": "H7C4N6-1", "locus": { "end_pos": 49791790, "strand": "+", "start_pos": 49793272, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000460430", "id": "ENST00000460430", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000417753", "id": "ENSP00000417753", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C4N6-1|H7C4N6_HUMAN Computationally mapped isoform of Cadherin-related family member 4 OS=Homo sapiens OX=9606 GN=CDHR4 PE=4 SV=1 CANONICAL=A6H8M9-1", "length": 134, "sequence": "QELTIYAPLGRSVEVTKMSCQIPQEPQRLIYSYSIVGGNSQNRFILQGAILVHSDLVLGPFWPEQPRTYELLICVADAGPSTPHLSTTATIIVHLVPRRASTVATSTHRTTVGPAAASTQQTSPGFAAKQHPGN" } }, { "url": "https://www.uniprot.org/uniprot/A6H8M9#H7C5B2-1", "isoform_ac": "H7C5B2-1", "locus": { "end_pos": 49790833, "strand": "+", "start_pos": 49792932, "chromosome": "3", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000487666", "id": "ENST00000487666", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000419433", "id": "ENSP00000419433", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H7C5B2-1|CDHR4_HUMAN Computationally mapped isoform of Cadherin-related family member 4 OS=Homo sapiens OX=9606 GN=CDHR4 PE=2 SV=1 CANONICAL=A6H8M9-1", "length": 151, "sequence": "XSTTATIIVHLVPRRASTVATSTHRTTVPSTMTPMLVTDTEAFWQPQPWFVVVLTATGALLLLALGWLLGRLLQGLAQLLQAPSKPAQALLLNSIQGTEGSIEGFLEAPKMEMSQAPSSVMSLQHFDGRAQDSRTGRDYLFNTHTGARRWL" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:389118", "resource": "KEGG Pathway", "id": "hsa:389118", "name": "" } ], "reaction_participants": [], "function": [ { "url": "https://www.uniprot.org/uniprot/A6H8M9#function", "annotation": "Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A6H8M9#function", "id": "A6H8M9", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007541.2", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007541.2", "id": "NP_001007541.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "H3BJZ2-1", "protein_name": "Cadherin-related family member 4", "sequence": { "length": 783, "sequence": "MALLRLLEFLFALLIPVLYSLPWTMYISENNGPGTVLRPFSFNCSSYMPTLELLSVRPPTSFFNKPSMHGDKGVYLVMVSLSSSARLDALAVNQYELQLQYRCGNFVVDGSIFVHVQRDPGRIRCTGAFASPAGEFIYVPETITPGALVYTLLLPGVQRAQINITSAQNPSPGPFSIDEQGLLRAPSQGLRGQAQKTFQLQISVSFEKNQSCRGMLTVKVLPAPSSQVSFLQKAQSITISEDLVPGSEVVRVQATGFNLLYEIISPRPSLFYSIGQADGVVRTTAPLDLARVQGAMVTKLQVRAFERPRPWASAVFDLTVSVRAVNQWPPRCHPALLVTQIPETSLVGTVLDALTCVDPDSAGRPLDYQLRFHSPPDSASLRLRDRILEVNATLDCDTPGACFQHSASILVVDGGQPQMTTEIPVLVMVTPVNEFSPACVPRTFRVQEDTGPHTLLGSIVGTDMDYPRNSLEYYISGGPSTFAVDRLSGELHLLGPLDYEQQRLYKITILLIDHSQDWDLNSHRSGSCTITIEVEDVNDHAPECEPPFQELTIYTPMGHSMEVTKVSCWIPQEPQRLTLSYSIVGGNSQSRFRLQGAILVYNDTVLGPPWPEQPCTYELLIHVADVGPSIPHLSTTTTIIVHLVPWKASTVATSTHQSTVSSTMTPLIVTELEAFWKPEPWFVVVLTATGAVLLLALGWLLSRILRGLAPSLQAPSKPAKAQLLNSIQGNEGPIERQMEAPRIEMSQVPRTAMSLQHFDGRAQDVCMGRDYLFNTLTGARRWL" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/82362", "id": "82362", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A6H8M9/", "id": "A6H8M9", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Cdhr4", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KFT->NFT).", "alt_nt": "null", "chr_id": "3", "ref_nt": "A", "chr_pos": "49799091C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1166630340", "id": "rs1166630340", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1166630340", "id": "rs1166630340", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 102, "keywords": [ "ebi", "germline" ], "end_pos": 102, "minor_allelic_frequency": "" }, { "sequence_org": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "alt_nt": "null", "chr_id": "3", "ref_nt": "T", "chr_pos": "49799036C>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1162492527", "id": "rs1162492527", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1162492527", "id": "rs1162492527", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 121, "keywords": [ "ebi", "germline" ], "end_pos": 121, "minor_allelic_frequency": "" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "A", "start_pos": 171, "alt_nt": "A", "chr_id": "3", "subjects_positive": "1", "chr_pos": "49834449", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6H8M9", "id": "A6H8M9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 171, "minor_allelic_frequency": "", "ref_nt": "G" }, { "sequence_org": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIT->NIN).", "alt_nt": "null", "chr_id": "3", "ref_nt": "T", "chr_pos": "49795744G>", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1391211345", "id": "rs1391211345", "database": "dbSNP" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs1391211345", "id": "rs1391211345", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "sequence_mut": "N", "start_pos": 244, "keywords": [ "ebi", "germline" ], "end_pos": 244, "minor_allelic_frequency": "" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "R", "start_pos": 288, "alt_nt": "A", "chr_id": "3", "subjects_positive": "1", "chr_pos": "49832798", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A6H8M9", "id": "A6H8M9", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "W", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "end_pos": 288, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%).", "sequence_org": "E", "start_pos": 349, "alt_nt": "A", "chr_id": "3", "subjects_positive": "1", "chr_pos": "49832520", "disease": [ { "disease_id": "DOID:1324", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012159", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 1; LNCR1", "id": "MONDO:0012159" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4", "id": "MONDO:0012955" }, { "url": "https://monarchinitiative.org/disease/MONDO:0012955", "resource": "MONDO", "description": "", "name": "lung cancer susceptibility 4; 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