HOXD10

HOXD10
Identifiers
Aliases	HOXD10, HOX4, HOX4D, HOX4E, Hox-4.4, homeobox D10
External IDs	OMIM: 142984 MGI: 96202 HomoloGene: 1619 GeneCards: HOXD10
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q31.1 Start 176,108,790 bp[1] End 176,119,937 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 C3|2 44.13 cM Start 74,522,268 bp[2] End 74,525,449 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla urethra stromal cell of endometrium Achilles tendon vagina myometrium prostate canal of the cervix germinal epithelium kidney Top expressed in uterus metanephros neural tube male urethra free upper limb female urethra kidney spinal cord ureter wall of urinary bladder More reference expression data BioGPS More reference expression data
Gene ontology Molecular 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
Orthologs Species Human Mouse Entrez 3236 15430 Ensembl ENSG00000128710 ENSMUSG00000050368 UniProt P28358 P28359 RefSeq (mRNA) NM_002148 NM_013554 RefSeq (protein) NP_002139 NP_038582 Location (UCSC) Chr 2: 176.11 – 176.12 Mb Chr 2: 74.52 – 74.53 Mb PubMed search [3] [4]
Wikidata
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Homeobox D10, also known as HOXD10, is a protein which in humans is encoded by the HOXD10 gene.^[5]

Function

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

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]}

Regulation

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

See also

• Homeobox

References

Further reading

External links

• HOXD10+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by expanding it.

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