NKX3-2

NKX3-2
Identifiers
Aliases	NKX3-2, NK3 homeobox 2, BAPX1, NKX3.2, NKX3B, SMMD
External IDs	MGI: 108015 HomoloGene: 68168 GeneCards: NKX3-2
Gene location (Human)
Chr.	Chromosome 4 (human)[1]
End	13,545,050 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	41,764,501 bp[2]
Gene ontology
Molecular function	• DNA binding; • sequence-specific DNA binding; • RNA polymerase II core promoter proximal region sequence-specific DNA binding; • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding; • RNA polymerase II transcription factor activity, sequence-specific DNA binding;
Cellular component	• cell 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 from RNA polymerase II promoter; • spleen development; • transcription from RNA polymerase II promoter; • 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;
	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 homeo domain containing transcription factor.^[5]

Function

NKX3-2 plays a role in the development of the skeleton.^[6] Nkx3-2 in mice also regulates patterning in the middle ear.^[7]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000109705 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000049691 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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.
↑ 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.

External links

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

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000109705 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000049691 - Ensembl, May 2017

[3] "Human PubMed Reference:".

[4] "Mouse PubMed Reference:".

[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.

[pmid_=_14973294-7] 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.