HOXD13 Knowpia

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.^[5]^[6]^[7] 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.^[8]

Changes in the expression of the Hoxd13 gene in early lobe-finned fish may have also contributed to the evolution of the tetrapod limb.^[9] 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.^[10] A number of similar studies conducted with a range of animals, including catsharks^[11] and marsupials,^[12] lend further credibility to the role of the Hoxd13 gene in the fin-to-limb transition.

Clinical significance edit

Mutations in HOXD13 can cause several types of autosomal dominant syndactyly and brachydactyly, including brachydactyly type D ("club thumb"), brachydactyly type E, syndactyly type 5 and synpolydactyly type 1.^[13]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000128714 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000001819 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Acampora D, D'Esposito M, Faiella A, Pannese M, Migliaccio E, Morelli F, et al. (December 1989). "The human HOX gene family". Nucleic Acids Research. 17 (24): 10385–402. doi:10.1093/nar/17.24.10385. PMC 335308. PMID 2574852.
^ McAlpine PJ, Shows TB (July 1990). "Nomenclature for human homeobox genes". Genomics. 7 (3): 460. doi:10.1016/0888-7543(90)90186-X. PMID 1973146.
^ "Entrez Gene: HOXD13 homeobox D13".
^ Davis AP, Capecchi MR (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.
^ Schneider I, Shubin NH (December 2012). "Making limbs from fins". Developmental Cell. 23 (6): 1121–2. doi:10.1016/j.devcel.2012.11.011. PMID 23237946.
^ Freitas R, Gómez-Marín C, Wilson JM, Casares F, Gómez-Skarmeta JL (December 2012). "Hoxd13 contribution to the evolution of vertebrate appendages". Developmental Cell. 23 (6): 1219–29. doi:10.1016/j.devcel.2012.10.015. PMID 23237954.
^ "Key genetic event underlying fin-to-limb evolution: Study of catsharks reveals how alterations in the expression, function of certain genes in limb buds underlie evolution of fish fins to limbs". ScienceDaily. Retrieved 2019-11-18.
^ Chew KY, Yu H, Pask AJ, Shaw G, Renfree MB (January 2012). "HOXA13 and HOXD13 expression during development of the syndactylous digits in the marsupial Macropus eugenii". BMC Developmental Biology. 12 (1): 2. doi:10.1186/1471-213X-12-2. PMC 3268106. PMID 22235805.
^ "OMIM Entry - * 142989 - HOMEOBOX D13; HOXD13". www.omim.org. Retrieved 2020-03-01.