HOXD13

HOXD13
Identifiers
Aliases	HOXD13, BDE, BDSD, HOX4I, SPD, SPD1, homeobox D13
External IDs	OMIM: 142989 MGI: 96205 HomoloGene: 20147 GeneCards: HOXD13
Gene location (Human)
Chr.	Chromosome 2 (human)
End	176,095,944 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	74,501,943 bp
RNA expression pattern
	Top expressed in
	urethra; ; vagina; ; Achilles tendon; ; seminal vesicula; ; prostate; ; canal of the cervix; ; vulva; ; rectum; ; urinary bladder; ; human penis;
	Top expressed in
	left colon; ; hand; ; rectum; ; foot; ; vas deferens; ; urethra; ; footplate; ; Hindgut; ; female urethra; ; male urethra;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	DNA binding; sequence-specific DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; chromatin binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific; cis-regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity; sequence-specific double-stranded DNA binding;
Cellular component	nucleus;
Biological process	pattern specification process; skeletal system development; regulation of branching involved in prostate gland morphogenesis; male genitalia development; regulation of transcription, DNA-templated; limb morphogenesis; embryonic digit morphogenesis; embryonic hindgut morphogenesis; branch elongation of an epithelium; transcription, DNA-templated; multicellular organism development; gland morphogenesis; regulation of cell population proliferation; embryonic limb morphogenesis; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis; anterior/posterior pattern specification; morphogenesis of an epithelial fold; transcription by RNA polymerase II; prostate gland development; response to testosterone; positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	3239
	15433
	ENSG00000128714
	ENSMUSG00000001819
	P35453
	P70217
	NM_000523
	NM_008275
	NP_000514
	NP_032301
	Wikidata
View/Edit Human	View/Edit Mouse

Homeobox protein Hox-D13 is a protein that in humans is encoded by the HOXD13 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 9–11 genes arranged in tandem. HOXD13 is the first of several 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 Hoxd13 gene plays a role in axial skeleton development and forelimb morphogenesis.

Changes in the expression of the Hoxd13 gene in early lobe-finned fish may have also contributed to the evolution of the tetrapod limb. Experiments investigating the impact of 5′ Hoxd overexpression in zebrafish embryos observed modified development of distal fin structures, resulting in increased proliferation, distal expansion of cartilage tissue and fin fold reduction. A number of similar studies conducted with a range of animals, including catsharks and marsupials, lend further credibility to the role of the Hoxd13 gene in the fin-to-limb transition.

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.