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HOXD12 homeobox D12 [ Homo sapiens (human) ]

Gene ID: 3238, updated on 23-Nov-2023

Summary

Official Symbol
HOXD12provided by HGNC
Official Full Name
homeobox D12provided by HGNC
Primary source
HGNC:HGNC:5135
See related
Ensembl:ENSG00000170178 MIM:142988; AllianceGenome:HGNC:5135
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
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Genomic context

See HOXD12 in Genome Data Viewer
Location:
2q31.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (176099795..176102489)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (176587916..176590610)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176964523..176967217)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:176943643-176944284 Neighboring gene even-skipped homeobox 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:176947449-176948064 Neighboring gene NUP98-HOXD13 recombination region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:176950515-176951339 Neighboring gene homeobox D13 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:176961670-176962253 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:176962254-176962836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:176964378-176965110 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 D10

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 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)

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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.

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
    B5MCP0, P35452, Q0VAD7, Q0VAD8, Q9NS03
    Related
    ENSP00000385586.2, ENST00000406506.4
    Conserved Domains (1) summary
    pfam00046
    Location:205258
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    176587916..176590610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)