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HOXD12

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Protein-coding gene in the species Homo sapiens
HOXD12
Identifiers
AliasesHOXD12, HOX4H, homeobox D12
External IDsOMIM: 142988; MGI: 96204; HomoloGene: 7369; GeneCards: HOXD12; OMA:HOXD12 - orthologs
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)
Chromosome 2 (human)Genomic location for HOXD12Genomic location for HOXD12
Band2q31.1Start176,099,795 bp
End176,102,489 bp
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)
Chromosome 2 (mouse)Genomic location for HOXD12Genomic location for HOXD12
Band2 C3|2 44.13 cMStart74,505,357 bp
End74,508,049 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • vagina

  • muscle layer of sigmoid colon

  • rectum

  • ectocervix

  • prostate

  • canal of the cervix

  • urinary bladder

  • wall of uterus

  • myometrium

  • kidney
Top expressed in
  • genital tubercle

  • urethra

  • tail of embryo

  • female urethra

  • male urethra

  • muscle layer of urethra

  • hand

  • epithelium of male urethra

  • footplate

  • sclerotome
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

3238

15432

Ensembl

ENSG00000170178

ENSMUSG00000001823

UniProt

P35452

P23812

RefSeq (mRNA)

NM_021193

NM_008274

RefSeq (protein)

NP_067016

NP_032300

Location (UCSC)Chr 2: 176.1 – 176.1 MbChr 2: 74.51 – 74.51 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Homeobox protein Hox-D12 is a protein that in humans is encoded by the HOXD12 gene.

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 product of the mouse Hoxd12 gene plays a role in axial skeleton development and forelimb morphogenesis.

See also

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000170178Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000001823Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. D'Esposito M, Morelli F, Acampora D, Migliaccio E, Simeone A, Boncinelli E (July 1991). "EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2". Genomics. 10 (1): 43–50. doi:10.1016/0888-7543(91)90482-T. PMID 1675198.
  6. McAlpine PJ, Shows TB (August 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
  7. "Entrez Gene: HOXD12 homeobox D12".
  8. Davis AP, Capecchi MR (1 April 1996). "A mutational analysis of the 5' HoxD genes: dissection of genetic interactions during limb development in the mouse". Development. 122 (4): 1175–85. doi:10.1242/dev.122.4.1175. PMID 8620844.

Further reading

External links

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


Transcription factors and intracellular receptors
(1) Basic domains
(1.1) Basic leucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3) bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3) Helix-turn-helix domains
(3.1) Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3) Fork head / winged helix
(3.4) Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4) β-Scaffold factors with minor groove contacts
(4.1) Rel homology region
(4.2) STAT
(4.3) p53-like
(4.4) MADS box
(4.6) TATA-binding proteins
(4.7) High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3) Pocket domain
(0.5) AP-2/EREBP-related factors
(0.6) Miscellaneous
see also transcription factor/coregulator deficiencies



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