NKX3-2
Identifiers
AliasesNKX3-2, NK3 homeobox 2, BAPX1, NKX3.2, NKX3B, SMMD
External IDsOMIM: 602183 MGI: 108015 HomoloGene: 68168 GeneCards: NKX3-2
Orthologs
SpeciesHumanMouse
Entrez

579

12020

Ensembl

ENSG00000109705

ENSMUSG00000049691

UniProt

P78367

P97503

RefSeq (mRNA)

NM_001189

NM_007524

RefSeq (protein)

NP_001180

NP_031550

Location (UCSC)Chr 4: 13.54 – 13.54 MbChr 5: 41.92 – 41.92 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000109705 - Ensembl, May 2017
  2. 1 2 3 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.
  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.
  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.
  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.


Further reading


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