{ "uniprot_canonical_ac": "A2RU54-1", "ptm_annotation": [], "sequence": { "header": "sp|A2RU54-1|HMX2_HUMAN Isoform 1 of Homeobox protein HMX2 OS=Homo sapiens OX=9606 GN=HMX2 PE=2 SV=1 CANONICAL=A2RU54-1", "length": 273, "sequence": "MGSKEDAGKGCPAAGGVSSFTIQSILGGGPSEAPREPVGWPARKRSLSVSSEEEEPDDGWKAPACFCPDQHGPKEQGPKHHPPIPFPCLGTPKGSGGSGPGGLERTPFLSPSHSDFKEEKERLLPAGSPSPGSERPRDGGAERQAGAAKKKTRTVFSRSQVYQLESTFDMKRYLSSSERACLASSLQLTETQVKTWFQNRRNKWKRQLSAELEAANMAHASAQTLVSMPLVFRDSSLLRVPVPRSLAFPAPLYYPGSNLSALPLYNLYNKLDY" }, "uniprot_id": "HMX2_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU54", "id": "A2RU54", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19253379", "type": [ "PubMed" ], "id": "19253379" } ], "title": "Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.", "journal": "American journal of medical genetics. Part A", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005510.1", "id": "NP_005510.1", "database": "RefSeq" } ], "authors": "Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/7510254", "type": [ "PubMed" ], "id": "7510254" } ], "title": "A novel NK-related mouse homeobox gene: expression in central and peripheral nervous structures during embryonic development.", "journal": "Developmental biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005510.1", "id": "NP_005510.1", "database": "RefSeq" } ], "authors": "Bober E, Baum C, Braun T, Arnold HH", "date": "1994" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/7647458", "type": [ "PubMed" ], "id": "7647458" } ], "title": "Phylogenetic conservation and physical mapping of members of the H6 homeobox gene family.", "journal": "Mammalian genome : official journal of the International Mammalian Genome Society", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005510.1", "id": "NP_005510.1", "database": "RefSeq" } ], "authors": "Stadler HS, Murray JC, Leysens NJ, Goodfellow PJ, Solursh M", "date": "1995" } ], "uniprot_ac": "A2RU54", "site_annotation": [ { "end_pos": 260, "annotation": "n_glycosylation_sequon", "start_pos": 258 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RU54#A2RU54-1", "isoform_ac": "A2RU54-1", "locus": { "end_pos": 123148379, "strand": "-", "start_pos": 123150120, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000339992", "id": "ENST00000339992", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000341108", "id": "ENSP00000341108", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RU54-1|HMX2_HUMAN Isoform 1 of Homeobox protein HMX2 OS=Homo sapiens OX=9606 GN=HMX2 PE=2 SV=1 CANONICAL=A2RU54-1", "length": 273, "sequence": "MGSKEDAGKGCPAAGGVSSFTIQSILGGGPSEAPREPVGWPARKRSLSVSSEEEEPDDGWKAPACFCPDQHGPKEQGPKHHPPIPFPCLGTPKGSGGSGPGGLERTPFLSPSHSDFKEEKERLLPAGSPSPGSERPRDGGAERQAGAAKKKTRTVFSRSQVYQLESTFDMKRYLSSSERACLASSLQLTETQVKTWFQNRRNKWKRQLSAELEAANMAHASAQTLVSMPLVFRDSSLLRVPVPRSLAFPAPLYYPGSNLSALPLYNLYNKLDY" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3167", "resource": "KEGG Pathway", "id": "hsa:3167", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005510.1", "annotation": "Propose that hemizygous deletions of HMX2 and HMX3 are responsible for inner ear malformations, vestibular dysfunction, and congenital sensorineural hearing loss", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005510.1", "id": "NP_005510.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A2RU54#function", "annotation": "Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU54#function", "id": "A2RU54", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4A578-1", "protein_name": "Similar to Hmx2 protein (Predicted), isoform CRA_b", "sequence": { "length": 273, "sequence": "MGSKEDVGKGCPAAGGVSSFTIQSILGGGPSEAPREPAGWPARKRSLSVSSEEEEPEEGWKAPACYCPDPHGPKEPSPKHHPPIPFPCLGTPKGSGGAGPAASERTPFLSPSHPDFKEEKERLLPAGSPSPGPERPRDGGAERQAGAAKKKTRTVFSRSQVYQLESTFDMKRYLSSSERACLASSLQLTETQVKTWFQNRRNKWKRQLSAELEAANMAHASAQTLVGMPLVFRDSSLLRVPVPRSLAFPAPLYYPSSNLSALPLYNLYNKLDY" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RU54/", "id": "A2RU54", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/24625", "id": "24625", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Hmx2", "tax_id": 10116 }, { "uniprot_canonical_ac": "P43687-1", "protein_name": "Homeobox protein HMX2", "sequence": { "length": 273, "sequence": "MGSKEDVGKGCPAAGGVSSFTIQSILGGGPSEAPREPAGWPARKRSLSVSSEEEEPEEGWKAPACFCPDPHGPKEPSPKHHTPIPFPCLGTPKGSGGAGPAASERTPFLSPSHPDFKEEKERLLPAGSPSPGPERPRDGGAERQTGAAKKKTRTVFSRSQVYQLESTFDMKRYLSSSERACLASSLQLTETQVKTWFQNRRNKWKRQLSAELEAANMAHASAQTLVGMPLVFRDSSLLRVPVPRSLAFPAPLYYPSSNLSALPLYNLYNKLDY" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RU54/", "id": "A2RU54", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/24625", "id": "24625", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Hmx2", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "S", "start_pos": 260, "alt_nt": "A", "chr_id": "10", "ref_nt": "C", "chr_pos": "124909596", "disease": [ { "synonyms": [ { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "tumor of head and neck", "description": "" } ], "recommended_name": { "id": "DOID:11934", "url": "http://disease-ontology.org/term/DOID:11934", "resource": "Disease Ontology", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU54", "id": "A2RU54", "database": "BioMuta" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "frequency": "2.3", "sequence_mut": "*", "subjects_tested": "44", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.3%).", "end_pos": 260, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "K", "start_pos": 61, "alt_nt": "T", "chr_id": "10", "ref_nt": "A", "chr_pos": "124908076", "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/A2RU54", "id": "A2RU54", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "2.0", "sequence_mut": "M", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 61, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005510.1", "ac": "NP_005510.1", "name": "homeobox protein HMX2", "summary": "The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990837", "pmid": "28473536", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU54", "id": "A2RU54", "database": "UniProtKB" } ], "name": "sequence-specific double-stranded DNA binding", "id": "GO:1990837" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU54", "id": "A2RU54", "database": "UniProtKB" } ], "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000790", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU54", "id": "A2RU54", "database": "UniProtKB" } ], "name": "nuclear chromatin", "id": "GO:0000790" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048026", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU54", "id": "A2RU54", "database": "UniProtKB" } ], "name": "positive regulation of mRNA splicing, via spliceosome", "id": "GO:0048026" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008284", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU54", "id": "A2RU54", "database": "UniProtKB" } ], "name": "positive regulation of cell population proliferation", "id": "GO:0008284" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU54", "id": "A2RU54", "database": "UniProtKB" } ], "name": "cell differentiation", "id": "GO:0030154" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042472", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU54", "id": "A2RU54", "database": "UniProtKB" } ], "name": "inner ear morphogenesis", "id": "GO:0042472" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RU54", "id": "A2RU54", "database": "UniProtKB" } ], "name": "brain development", "id": "GO:0007420" } ], "total": 5, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RU54", "type": "synonym", "resource": "RefSeq", "name": "H6L; Nkx5-2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RU54", "type": "synonym", "resource": "RefSeq", "name": "HMX2" }, { "url": "https://www.uniprot.org/uniprot/A2RU54", "type": "recommended", "resource": "UniProtKB", "name": "HMX2" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000188816", "id": "ENSG00000188816", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RU54", "id": "A2RU54", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00086", "id": "cd00086", "database": "CDD" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=HMX2", "id": "HMX2", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/3167", "id": "3167", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5018", "id": "5018", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RU54*", "id": "A2RU54", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001356", "id": "IPR001356", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR009057", "id": "IPR009057", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR017970", "id": "IPR017970", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR020479", "id": "IPR020479", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3167", "id": "hsa:3167", "database": "KEGG Pathway" }, { "url": "http://www.omim.org/entry/600647", "id": "600647", "database": "MIM" }, { "url": "https://www.nextprot.org/entry/NX_A2RU54", "id": "NX_A2RU54", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/DVGKGCP/", "id": "DVGKGCP", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1313583at2759", "id": "1313583at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00046", "id": "PF00046", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A2RU54", "id": "A2RU54", "database": "PHAROS" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2RU54", "id": "PR_A2RU54", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005510.1", "id": "NP_005510.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2RU54", "id": "A2RU54", "database": "UniProtKB" } ], "expression_disease": [ { "name": "Prostate cancer [DO disease name]", "trend": "Down", "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/A2RU54", "id": "A2RU54", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:10283", "significant": "Yes" }, { "name": "Urinary bladder cancer [DO disease name]", "trend": "Up", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RU54", "id": "A2RU54", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Thyroid gland cancer [DO disease name]", "trend": "Down", "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/bioxpress/transcriptview/A2RU54", "id": "A2RU54", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:1781", "significant": "No" }, { "name": "Liver cancer [DO disease name]", "trend": "Down", "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": "" }, { 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