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HOXD12 homeobox D12 [ Homo sapiens (human) ]

Gene ID: 3238, updated on 18-Aug-2020

Summary

Official Symbol
HOXD12provided by HGNC
Official Full Name
homeobox D12provided by HGNC
Primary source
HGNC:HGNC:5135
See related
Ensembl:ENSG00000170178 MIM:142988
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
HOX4H
Summary
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See HOXD12 in Genome Data Viewer
Location:
2q31.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (176099795..176102489)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176964530..176965488)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene NUP98-HOXD13 recombination region Neighboring gene homeobox D13 Neighboring gene sine oculis-binding protein homolog Neighboring gene homeobox D11

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
pattern specification process IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
homeobox protein Hox-D12
Names
Hox-4.7, mouse, homolog of
homeo box D12
homeobox protein Hox-4H

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.

mRNA and Protein(s)

  1. NM_021193.4NP_067016.3  homeobox protein Hox-D12

    See identical proteins and their annotated locations for NP_067016.3

    Status: REVIEWED

    Source sequence(s)
    AC009336
    Consensus CDS
    CCDS46456.1
    UniProtKB/Swiss-Prot
    P35452
    Related
    ENSP00000385586.2, ENST00000406506.4
    Conserved Domains (1) summary
    pfam00046
    Location:205258
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    176099795..176102489
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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