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HOXD10 homeobox D10 [ Homo sapiens (human) ]

Gene ID: 3236, updated on 27-Nov-2024

Summary

Official Symbol
HOXD10provided by HGNC
Official Full Name
homeobox D10provided by HGNC
Primary source
HGNC:HGNC:5133
See related
Ensembl:ENSG00000128710 MIM:142984; AllianceGenome:HGNC:5133
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]
Expression
Biased expression in endometrium (RPKM 21.4), kidney (RPKM 9.2) and 4 other tissues See more
Orthologs
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Genomic context

See HOXD10 in Genome Data Viewer
Location:
2q31.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (176116778..176119937)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (176604906..176608071)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176981506..176984665)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:176964378-176965110 Neighboring gene homeobox D12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:176968878-176969864 Neighboring gene homeobox D11 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:176980400-176981072 Neighboring gene homeobox D9 Neighboring gene uncharacterized LOC100129455 Neighboring gene homeobox D8

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Congenital vertical talus
MedGen: C0240912 OMIM: 192950 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
involved_in anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic limb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in forelimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in hindlimb morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of cell cycle NAS
Non-traceable Author Statement
more info
PubMed 
involved_in neuromuscular process IEA
Inferred from Electronic Annotation
more info
 
involved_in peripheral nervous system neuron development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in proximal/distal pattern formation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in single fertilization IEA
Inferred from Electronic Annotation
more info
 
involved_in skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in spinal cord motor neuron cell fate specification IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of transcription repressor complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
homeobox protein Hox-D10
Names
homeo box 4D
homeo box D10
homeobox protein Hox-4D
homeobox protein Hox-4E

NCBI Reference Sequences (RefSeq)

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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

  1. NG_008133.2 RefSeqGene

    Range
    10001..13179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_246

mRNA and Protein(s)

  1. NM_002148.4NP_002139.2  homeobox protein Hox-D10

    See identical proteins and their annotated locations for NP_002139.2

    Status: REVIEWED

    Source sequence(s)
    AA653427, AL526269, AW243295, AW299531, BC069619, BX114645
    Consensus CDS
    CCDS2266.1
    UniProtKB/Swiss-Prot
    P28358, Q6NT10
    Related
    ENSP00000249501.4, ENST00000249501.5
    Conserved Domains (1) summary
    pfam00046
    Location:269323
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    176116778..176119937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    176604906..176608071
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)