NKX3-2

NKX3-2
Identifiers
Aliases	NKX3-2, NK3 homeobox 2, BAPX1, NKX3.2, NKX3B, SMMD
External IDs	OMIM: 602183; MGI: 108015; HomoloGene: 68168; GeneCards: NKX3-2; OMA:NKX3-2 - orthologs
Gene location (Human)
Chr.	Chromosome 4 (human)
End	13,544,508 bp
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)
End	41,921,844 bp
RNA expression pattern
	Top expressed in
	tibia; ; muscle layer of sigmoid colon; ; cartilage tissue; ; tendon of biceps brachii; ; transverse colon; ; gonad; ; spleen; ; smooth muscle tissue; ; embryo; ; rectum;
	Top expressed in
	sclerotome; ; female urethra; ; male urethra; ; embryo; ; somite; ; lateral plate mesoderm; ; embryo; ; primordial pancreas; ; Meckel's cartilage; ; vertebra;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding; sequence-specific DNA binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; DNA-binding transcription factor activity, RNA polymerase II-specific; DNA-binding transcription factor activity;
Cellular component	nucleus;
Biological process	animal organ development; skeletal system development; regulation of transcription, DNA-templated; digestive system development; intestinal epithelial cell development; skeletal system morphogenesis; negative regulation of apoptotic process; negative regulation of transcription by RNA polymerase II; spleen development; transcription by RNA polymerase II; transcription, DNA-templated; embryonic skeletal system development; animal organ formation; determination of left/right symmetry; negative regulation of chondrocyte differentiation; middle ear morphogenesis; pancreas development; cell differentiation; positive regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	579
	12020
	ENSG00000109705
	ENSMUSG00000049691
	P78367
	P97503
	NM_001189
	NM_007524
	NP_001180
	NP_031550
	Wikidata
View/Edit Human	View/Edit Mouse

NK3 homeobox 2 also known as NKX3-2 is a human gene. It is a homolog of bagpipe (bap) in Drosophila and therefore also known as Bapx1 (bagpipe homeobox homolog 1). The protein encoded by this gene is a homeodomain containing transcription factor.^[5]

Function

NKX3-2 plays a role in the development of the axial and limb skeleton.^[6] Mutations disrupting the function of this gene are associated with spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD).^[7] Nkx3-2 in mice also regulates patterning in the middle ear.^[8] Two small bones in the middle ear, the malleus and incus, are homologous to the articular and quadrate, the bones of the proximal jaw joint in fish and other non-mammalian jawed vertebrates. NKX3-2 expression is required to pattern the articulated joint between these jaw bones, as knockdowns or knockouts of this gene result in the loss of the jaw joint in zebrafish,^[9] chicken,^[10] and amphibians.^[11] Overexpression of this gene results in the development of ectopic mandibular cartilages in zebrafish ^[12] and amphibians.^[13]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000109705 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000049691 – 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.
^ Yoshiura KI, Murray JC (October 1997). "Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia". Genomics. 45 (2): 425–428. doi:10.1006/geno.1997.4926. PMID 9344671.
^ Lettice L, Hecksher-Sørensen J, Hill R (2001). "The role of Bapx1 (Nkx3.2) in the development and evolution of the axial skeleton". Journal of Anatomy. 199 (Pt 1-2): 181–187. doi:10.1111/j.1469-7580.2008.00944.x. PMC 1594973. PMID 11523821.
^ Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, et al. (December 2009). "Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia". American Journal of Human Genetics. 85 (6): 916–922. doi:10.1016/j.ajhg.2009.11.005. PMC 2790567. PMID 20004766.
^ Tucker AS, Watson RP, Lettice LA, Yamada G, Hill RE (March 2004). "Bapx1 regulates patterning in the middle ear: altered regulatory role in the transition from the proximal jaw during vertebrate evolution". Development. 131 (6): 1235–1245. doi:10.1242/dev.01017. PMID 14973294. S2CID 447070.
^ Miller CT, Yelon D, Stainier DY, Kimmel CB (April 2003). "Two endothelin 1 effectors, hand2 and bapx1, pattern ventral pharyngeal cartilage and the jaw joint". Development. 130 (7): 1353–1365. doi:10.1242/dev.00339. PMID 12588851.
^ Wilson J, Tucker AS (February 2004). "Fgf and Bmp signals repress the expression of Bapx1 in the mandibular mesenchyme and control the position of the developing jaw joint". Developmental Biology. 266 (1): 138–150. doi:10.1016/j.ydbio.2003.10.012. PMID 14729484.
^ Lukas P, Olsson L (November 2018). "Bapx1 is required for jaw joint development in amphibians". Evolution & Development. 20 (6): 192–206. doi:10.1111/ede.12267. PMID 30168254. S2CID 52133937.
^ Nichols JT, Pan L, Moens CB, Kimmel CB (July 2013). "barx1 represses joints and promotes cartilage in the craniofacial skeleton". Development. 140 (13): 2765–2775. doi:10.1242/dev.090639. PMC 3678344. PMID 23698351.
^ Lukas P, Olsson L (2018). "Bapx1 upregulation is associated with ectopic mandibular cartilage development in amphibians". Zoological Letters. 4 (1): 16. doi:10.1186/s40851-018-0101-3. PMC 5998585. PMID 29942645.

External links

Bapx1+protein,+mouse at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article on a gene on human chromosome 4 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000109705 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000049691 – Ensembl, 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.

[pmid9344671-5] Yoshiura KI, Murray JC (October 1997). "Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: a candidate gene for skeletal dysplasia". Genomics. 45 (2): 425–428. doi:10.1006/geno.1997.4926. PMID 9344671.

[pmid11523821-6] Lettice L, Hecksher-Sørensen J, Hill R (2001). "The role of Bapx1 (Nkx3.2) in the development and evolution of the axial skeleton". Journal of Anatomy. 199 (Pt 1-2): 181–187. doi:10.1111/j.1469-7580.2008.00944.x. PMC 1594973. PMID 11523821.

[7] Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, et al. (December 2009). "Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia". American Journal of Human Genetics. 85 (6): 916–922. doi:10.1016/j.ajhg.2009.11.005. PMC 2790567. PMID 20004766.

[pmid_=_14973294-8] Tucker AS, Watson RP, Lettice LA, Yamada G, Hill RE (March 2004). "Bapx1 regulates patterning in the middle ear: altered regulatory role in the transition from the proximal jaw during vertebrate evolution". Development. 131 (6): 1235–1245. doi:10.1242/dev.01017. PMID 14973294. S2CID 447070.

[9] Miller CT, Yelon D, Stainier DY, Kimmel CB (April 2003). "Two endothelin 1 effectors, hand2 and bapx1, pattern ventral pharyngeal cartilage and the jaw joint". Development. 130 (7): 1353–1365. doi:10.1242/dev.00339. PMID 12588851.

[10] Wilson J, Tucker AS (February 2004). "Fgf and Bmp signals repress the expression of Bapx1 in the mandibular mesenchyme and control the position of the developing jaw joint". Developmental Biology. 266 (1): 138–150. doi:10.1016/j.ydbio.2003.10.012. PMID 14729484.

[11] Lukas P, Olsson L (November 2018). "Bapx1 is required for jaw joint development in amphibians". Evolution & Development. 20 (6): 192–206. doi:10.1111/ede.12267. PMID 30168254. S2CID 52133937.

[12] Nichols JT, Pan L, Moens CB, Kimmel CB (July 2013). "barx1 represses joints and promotes cartilage in the craniofacial skeleton". Development. 140 (13): 2765–2775. doi:10.1242/dev.090639. PMC 3678344. PMID 23698351.

[13] Lukas P, Olsson L (2018). "Bapx1 upregulation is associated with ectopic mandibular cartilage development in amphibians". Zoological Letters. 4 (1): 16. doi:10.1186/s40851-018-0101-3. PMC 5998585. PMID 29942645.

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Function

References

Further reading

External links