{ "uniprot_canonical_ac": "P28358-1", "uniprot_ac": "P28358", "uniprot_id": "HXD10_HUMAN", "mass": { "chemical_mass": 38411.0, "monoisotopic_mass": 38411.0 }, "refseq": { "ac": "NP_002139", "name": "homeobox protein Hox-D10", "summary": "This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as 'rocker-bottom foot' deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002139" }, "gene_names": [ { "name": "HOXD10", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P28358", "id": "P28358" }, { "name": "HOX4D", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P28358", "id": "P28358" }, { "name": "HOX4E", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P28358", "id": "P28358" }, { "name": "HOXD10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002139", "id": "NP_002139" }, { "name": "Hox-4.4; HOX4; HOX4D; HOX4E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002139", "id": "NP_002139" } ], "protein_names": [ { "name": "Homeobox protein Hox-D10", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P28358" }, { "name": "Homeobox protein Hox-4D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28358" }, { "name": "Homeobox protein Hox-4E", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P28358" }, { "name": "homeo box D10; homeo box 4D; homeobox protein Hox-4D; homeobox protein Hox-4E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002139", "id": "NP_002139" }, { "name": "homeobox protein Hox-D10", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002139", "id": "NP_002139" } ], "function": [ { "annotation": "Circ_0000317/microRNA-520g/HOXD10 axis affects the biological characteristics of colorectal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002139" }, { "database": "PubMed", "id": "34292663", "url": "https://glygen.org/publication/PubMed/34292663" } ] }, { "annotation": "Circ_0077109 sponges miR-139-5p and upregulates HOXD10 in trophoblast cells as potential mechanism for preeclampsia progression.", "evidence": [ { "database": "RefSeq", "id": "NP_002139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002139" }, { "database": "PubMed", "id": "35964231", "url": "https://glygen.org/publication/PubMed/35964231" } ] }, { "annotation": "Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.", "evidence": [ { "database": "UniProtKB", "id": "P28358", "url": "https://www.uniprot.org/uniprot/P28358#function" } ] }, { "annotation": "This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as 'rocker-bottom foot' deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_002139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002139" } ] }, { "annotation": "Upregulation of homeobox D10 expression suppresses invasion and migration of clear cell renal cell carcinoma through targeting of E-cadherin.", "evidence": [ { "database": "RefSeq", "id": "NP_002139", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002139" }, { "database": "PubMed", "id": "34825321", "url": "https://glygen.org/publication/PubMed/34825321" } ] } ], "disease": [ { "disease_id": "DOID:0111568", "recommended_name": { "id": "DOID:0111568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111568", "name": "congenital vertical talus", "description": "A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1." }, "synonyms": [ { "id": "DOID:0111568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111568", "name": "CVT", "description": "" }, { "id": "DOID:0111568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111568", "name": "congenital convex foot", "description": "" }, { "id": "DOID:0111568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111568", "name": "congenital convex pes valgus", "description": "" }, { "id": "DOID:0111568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111568", "name": "congenital rocker-bottom foot", "description": "" }, { "id": "DOID:0111568", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111568", "name": "rocker-bottom foot deformity", "description": "" }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "congenital vertical talus", "description": "Isolated congenital vertical talus (CVT) is a rare pedal deformity recognizable at birth by a dislocation of the talonavicular joint, resulting in a characteristic radiographic near-vertical orientation of the talus." }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "Charcot-Marie-Tooth disease, foot deformity of", "description": "" }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "congenital convex foot", "description": "" }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "congenital convex pes valgus", "description": "" }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "congenital rocker-bottom foot", "description": "" }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "CVT", "description": "" }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "pes valgus, congenital convex", "description": "" }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "rocker bottom foot", "description": "" }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "rocker-bottom foot", "description": "" }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "rocker-bottom foot deformity", "description": "" }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "vertical talus", "description": "" }, { "id": "MONDO:0008652", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008652", "name": "vertical talus, congenital", "description": "" }, { "id": "MIM:192950", "resource": "MIM", "url": "https://www.omim.org/entry/192950", "name": "Vertical talus, congenital", "description": "Vertical talus, congenital" } ], "evidence": [ { "id": "192950", "database": "MIM", "url": "https://www.omim.org/entry/192950" } ] } ], "snv": [ { "evidence": [ { "id": "P28358", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P28358" } ], "glycoeffect": [], "start_pos": 183, "end_pos": 183, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "2", "chr_pos": "176117380", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R183", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, 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"description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": 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"glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human HOX4E: a gene strongly expressed in the adult male and female urogenital tracts.", "journal": "Genomics", "date": "1992", "authors": "Williams A.J., Collins T., Patterson P., Redline R.W.", "evidence": [ { "database": "UniProtKB", "id": "P28358", "url": "https://www.uniprot.org/uniprot/P28358" } ], "reference": [ { "type": "PubMed", "id": "1351871", "url": "https://glygen.org/publication/PubMed/1351871" } ] }, { "title": "A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.", "journal": "Am. J. Hum. Genet.", "date": "2004", "authors": "Shrimpton AE, Levinsohn EM, Yozawitz JM, Packard DS Jr, Cady RB, Middleton FA, Persico AM, Hootnick DR", "evidence": [ { "database": "UniProtKB", "id": "P28358", "url": "https://www.uniprot.org/uniprot/P28358" } ], "reference": [ { "type": "PubMed", "id": "15146389", "url": "https://glygen.org/publication/PubMed/15146389" } ] }, { "title": "HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities.", "journal": "EMBO J.", "date": "1991", "authors": "Zappavigna V, Renucci A, Izpisua-Belmonte JC, Urier G, Peschle C, Duboule D", "evidence": [ { "database": "UniProtKB", "id": "P28358", "url": "https://www.uniprot.org/uniprot/P28358" } ], "reference": [ { "type": "PubMed", "id": "1756725", "url": "https://glygen.org/publication/PubMed/1756725" } ] }, { "title": "The human HOX gene family.", "journal": "Nucleic Acids Res.", "date": "1989", "authors": "Boncinelli E., Simeone A., D'Esposito M., Nigro V., Acampora D., 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