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
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; ; stomach; ; embryo; ; colon; ; transverse colon; ; tendon;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding; sequence-specific DNA binding; GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding; GO:0001078, GO:0001214, GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific; GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific; GO:0001131, GO:0001151, GO:0001130, GO:0001204 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): 425–8. 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". J. Anat. 199 (Pt 1–2): 181–7. doi:10.1111/j.1469-7580.2008.00944.x. PMC 1594973. PMID 11523821.
^ Hellemans, Jan; Simon, Marleen; Dheedene, Annelies; Alanay, Yasemin; Mihci, Ercan; Rifai, Laila; Sefiani, Abdelaziz; van Bever, Yolande; Meradji, Morteza (2009). "Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia". The 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 (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.
^ Miller, C. T. (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, Joanne; Tucker, Abigail S (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, Paul; Olsson, Lennart (2018). "Bapx1 is required for jaw joint development in amphibians". Evolution & Development. 20 (6): 192–206. doi:10.1111/ede.12267. ISSN 1525-142X. PMID 30168254. S2CID 52133937.
^ Nichols, James; Pan, Luyuan; Moens, Cecilia; Kimmel, Charles (2013). "barx1 represses joints and promotes cartilage in the craniofacial skeleton". Development. 140 (13): 2765–2775. doi:10.1242/dev.090639. ISSN 0950-1991. PMC 3678344. PMID 23698351.
^ Lukas, Paul; Olsson, Lennart (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 US 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 .

[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): 425–8. 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". J. Anat. 199 (Pt 1–2): 181–7. doi:10.1111/j.1469-7580.2008.00944.x. PMC 1594973. PMID 11523821.

[7] Hellemans, Jan; Simon, Marleen; Dheedene, Annelies; Alanay, Yasemin; Mihci, Ercan; Rifai, Laila; Sefiani, Abdelaziz; van Bever, Yolande; Meradji, Morteza (2009). "Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia". The 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 (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.

[9] Miller, C. T. (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, Joanne; Tucker, Abigail S (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, Paul; Olsson, Lennart (2018). "Bapx1 is required for jaw joint development in amphibians". Evolution & Development. 20 (6): 192–206. doi:10.1111/ede.12267. ISSN 1525-142X. PMID 30168254. S2CID 52133937.

[12] Nichols, James; Pan, Luyuan; Moens, Cecilia; Kimmel, Charles (2013). "barx1 represses joints and promotes cartilage in the craniofacial skeleton". Development. 140 (13): 2765–2775. doi:10.1242/dev.090639. ISSN 0950-1991. PMC 3678344. PMID 23698351.

[13] Lukas, Paul; Olsson, Lennart (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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NKX3-2

Contents

Function[]

References[]

Further reading[]

External links[]