HOXA2

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Homeobox protein Hox-A2 is a protein that in humans is encoded by the HOXA2 gene.{{cite journal | author = Scott MP | title = Vertebrate homeobox gene nomenclature | journal = Cell | volume = 71 | issue = 4 | pages = 551–3 |date=November 1992 | pmid = 1358459 | doi = 10.1016/0092-8674(92)90588-4| s2cid = 13370372 }}

Function

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region.{{cite web | title = Entrez Gene: HOXA2 homeobox A2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3199}}

HOXA2 controls the embryonic development of the lower and middle part of the face and of the middle ear. Mutations in it are known to cause microtia, hearing impairment, and cleft palate.

See also

References

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Further reading

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  • {{cite journal |vauthors=Alasti F, Sadeghi A, Sanati MH, etal |title=A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family |journal=Am. J. Hum. Genet. |volume=82 |issue= 4 |pages= 982–91 |year= 2008 |pmid= 18394579 |pmc=2427268 |doi= 10.1016/j.ajhg.2008.02.015 }}
  • {{cite journal |vauthors=Kosaki K, Kosaki R, Suzuki T, etal |title=Complete mutation analysis panel of the 39 human HOX genes |journal=Teratology |volume=65 |issue= 2 |pages= 50–62 |year= 2002 |pmid= 11857506 |doi= 10.1002/tera.10009 }}
  • {{cite journal |vauthors=Scherer SW, Cheung J, MacDonald JR, etal |title=Human Chromosome 7: DNA Sequence and Biology |journal=Science |volume=300 |issue= 5620 |pages= 767–72 |year= 2003 |pmid= 12690205 |pmc=2882961 |doi= 10.1126/science.1083423 |bibcode=2003Sci...300..767S }}
  • {{cite journal |vauthors=Hillier LW, Fulton RS, Fulton LA, etal |title=The DNA sequence of human chromosome 7 |journal=Nature |volume=424 |issue= 6945 |pages= 157–64 |year= 2003 |pmid= 12853948 |doi= 10.1038/nature01782 |bibcode=2003Natur.424..157H |doi-access=free }}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |pmc=139241 |doi= 10.1073/pnas.242603899 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal |author=Scott MP |title=Vertebrate homeobox gene nomenclature |journal=Cell |volume=71 |issue= 4 |pages= 551–3 |year= 1992 |pmid= 1358459 |doi=10.1016/0092-8674(92)90588-4 |s2cid=13370372 }}
  • {{cite journal |vauthors=Yerges LM, Klei L, Cauley JA, etal |title=High-Density Association Study of 383 Candidate Genes for Volumetric BMD at the Femoral Neck and Lumbar Spine Among Older Men |journal=J. Bone Miner. Res. |volume= 24|issue= 12|pages= 2039–49 |year= 2009 |pmid= 19453261 |pmc=2791518 |doi= 10.1359/jbmr.090524 }}
  • {{cite journal |vauthors=Apiou F, Flagiello D, Cillo C, etal |title=Fine mapping of human HOX gene clusters |journal=Cytogenet. Cell Genet. |volume=73 |issue= 1–2 |pages= 114–5 |year= 1996 |pmid= 8646877 |doi=10.1159/000134320 }}

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{{gene-7-stub}}

{{Transcription factors|g3}}

Category:Transcription factors