NKX3-2

Last updated
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
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001189

NM_007524

RefSeq (protein)

NP_001180

NP_031550

Location (UCSC) Chr 4: 13.54 – 13.54 Mb Chr 5: 41.92 – 41.92 Mb
PubMed search [3] [4]
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]

Contents

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]

Related Research Articles

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NK3 homeobox 3, also known as NKX3-3, zax, bagpipe homeobox or zampogna is a paralogous gene of NKX3-2. It is named after the italian instrument called zampogna. NKX3-3 is not present in the human genome.

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 J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M (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. S2CID   447070.
  9. Miller CT (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 (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 (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 J, Pan L, Moens C, Kimmel C (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 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.


Further reading