HOXD10 homeobox D10 [Homo sapiens] - Gene

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Summary

Official Symbol: HOXD10provided by HGNC
Official Full Name: homeobox D10provided by HGNC
Primary source: HGNC:5133
See related: Ensembl:ENSG00000128710; HPRD:00867; MIM:142984; Vega:OTTHUMG00000132511
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HOX4; HOX4D; HOX4E; Hox-4.4
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]

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Genomic context

Location :: 2q31.1

Sequence :: Chromosome: 2; NC_000002.11 (176981492..176984670)

See HOXD10 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

miR-10b induced glioma cell invasion by modulating tumor invasion factors MMP-14 and uPAR expression via the direct target HOXD10
Title: MicroRNA-10b induces glioma cell invasion by modulating MMP-14 and uPAR expression via HOXD10.
Pak1 is a target of miR-7 and that HoxD10 plays a regulatory role in modifying the expression of miR-7.
Title: MicroRNA-7, a homeobox D10 target, inhibits p21-activated kinase 1 and regulates its functions.
Observational study of gene-disease association. (HuGE Navigator)
Title: High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.
No evidence was found of linkage near the HOXD gene cluster on chromosome 2q, suggesting genes other than HOXD10 are responsible for idiopathic clubfoot.
Title: Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus.
An autosomal-dominant-inherited mutation in a HOXD10 gene with complete penetrance is found in all members of a pedigree with congenital vertical talus.
Title: Congenital vertical talus in four generations of the same family.
results indicate a role for HoxD10 in maintaining a nonangiogenic state in the endothelium
Title: Sustained expression of homeobox D10 inhibits angiogenesis.
Missense Mutation in HOXD10 is associated with congenital vertical talus and Charcot-Marie-Tooth disease
Title: A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Charcot-Marie-Tooth disease, foot deformity of

MIM: 192950

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Products	Interactant	Other Gene	Source	Pubs	Description
P28358	Q92793	CREBBP	HPRD	PubMed
P28358	O75496	GMNN	HPRD	PubMed
P28358	P40424	PBX1	HPRD	PubMed
BioGRID:109476	BioGRID:107777	CREBBP	BioGRID	PubMed	Reconstituted Complex
BioGRID:109476	BioGRID:108347	EP300	BioGRID	PubMed	Reconstituted Complex
BioGRID:109476	BioGRID:109389	HMGB1	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
chromatin binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
adult locomotory behavior	IEA Inferred from Electronic Annotation more info
anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
embryonic skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info
forelimb morphogenesis	IEA Inferred from Electronic Annotation more info
hindlimb morphogenesis	IEA Inferred from Electronic Annotation more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
neuromuscular process	IEA Inferred from Electronic Annotation more info
peripheral nervous system neuron development	IEA Inferred from Electronic Annotation more info
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
proximal/distal pattern formation	IEA Inferred from Electronic Annotation more info
skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info
skeletal system development	IEA Inferred from Electronic Annotation more info
spinal cord motor neuron cell fate specification	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: homeobox protein Hox-D10

Names: homeobox protein Hox-D10; homeo box 4D; homeo box D10; homeobox protein Hox-4D; homeobox protein Hox-4E

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008133.2 RefSeqGene

Range

10001..13179

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002148.3 → NP_002139.2 homeobox protein Hox-D10

Status: REVIEWED

Source sequence(s)

AA653427, AL526269, AW243295, AW299531, BC069619, BX114645

Consensus CDS

CCDS2266.1

UniProtKB/Swiss-Prot

P28358

Related

ENSP00000249501, OTTHUMP00000163335, ENST00000249501, OTTHUMT00000255692

Conserved Domains (1) summary

cd00086
Location:267 – 325
Blast Score: 189

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

176981492..176984670

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

168858717..168861901

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC009336.13 (100759..103685)	None
genomic	CH471058.2	EAX11091.1
mRNA	AA653427.1	None
mRNA	AI651040.1	None
mRNA	AL526269.3	None
mRNA	AW243295.1	None
mRNA	AW299531.1	None
mRNA	BC069619.1	AAH69619.1
mRNA	BC074760.2	AAH74760.1
mRNA	BX114645.1	None
mRNA	X59373.1	CAA42017.1
other-genetic	EU446483.1	ABZ92012.1