HOXD10 (original) (raw)

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Protein-coding gene in humans

HOXD10
Identifiers
Aliases HOXD10, HOX4, HOX4D, HOX4E, Hox-4.4, homeobox D10
External IDs OMIM: 142984; MGI: 96202; HomoloGene: 1619; GeneCards: HOXD10; OMA:HOXD10 - orthologs
Gene location (Human)Chromosome 2 (human)Chr.Chromosome 2 (human)[1]Chromosome 2 (human)Genomic location for HOXD10Genomic location for HOXD10Band2q31.1Start176,108,790 bp[1]End176,119,937 bp[1]
Gene location (Mouse)Chromosome 2 (mouse)Chr.Chromosome 2 (mouse)[2]Chromosome 2 (mouse)Genomic location for HOXD10Genomic location for HOXD10Band2 C3|2 44.13 cMStart74,522,268 bp[2]End74,525,449 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inrenal medulladeciduabody of uterusurethrastromal cell of endometriumAchilles tendonvaginamyometriumbuccal mucosa cellmuscle layer of sigmoid colonTop expressed inuterustail of embryometanephrosneural tuberight kidneymale urethrafree upper limbfemale urethragenital tuberclestroma of kidneyMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function sequence-specific DNA binding DNA binding DNA-binding transcription factor activity chromatin binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus nucleoplasm cytosol cytoplasmic ribonucleoprotein granule Biological process embryonic skeletal system morphogenesis forelimb morphogenesis peripheral nervous system neuron development skeletal system development proximal/distal pattern formation regulation of transcription, DNA-templated spinal cord motor neuron cell fate specification adult locomotory behavior hindlimb morphogenesis transcription, DNA-templated single fertilization multicellular organism development neuromuscular process embryonic limb morphogenesis regulation of gene expression skeletal muscle tissue development anterior/posterior pattern specification positive regulation of transcription by RNA polymerase II transcription by RNA polymerase II Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez323615430EnsemblENSG00000128710ENSMUSG00000050368UniProtP28358P28359RefSeq (mRNA)NM_002148NM_013554RefSeq (protein)NP_002139NP_038582Location (UCSC)Chr 2: 176.11 – 176.12 MbChr 2: 74.52 – 74.53 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox D10, also known as HOXD10, is a protein which in humans is encoded by the HOXD10 gene.[5]

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.

Clinical significance

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Mutations in this gene have been associated with Wilms' 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.[5][_citation needed_]

The HOXD10 gene is repressed by the microRNAs miR-10a and miR-10b.[6][7][8]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000128710 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050368 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: HOXD10 homeobox D10".
  6. ^ Lund AH (Feb 2010). "miR-10 in development and cancer". Cell Death and Differentiation. 17 (2): 209–14. doi:10.1038/cdd.2009.58. PMID 19461655.
  7. ^ Ma L, Teruya-Feldstein J, Weinberg RA (Oct 2007). "Tumour invasion and metastasis initiated by microRNA-10b in breast cancer". Nature. 449 (7163): 682–8. Bibcode:2007Natur.449..682M. doi:10.1038/nature06174. PMID 17898713. S2CID 4421050.
  8. ^ Han L, Witmer PD, Casey E, Valle D, Sukumar S (Aug 2007). "DNA methylation regulates MicroRNA expression". Cancer Biology & Therapy. 6 (8): 1284–8. doi:10.4161/cbt.6.8.4486. PMID 17660710.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.