HOXA2

Homeobox A2
Identifiers
Symbols	HOXA2 ; HOX1K; MCOHI
External IDs	OMIM: 604685 MGI: 96174 HomoloGene: 4901 GeneCards: HOXA2 Gene
Gene ontology Molecular function • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding Cellular component • nucleoplasm Biological process • negative regulation of transcription from RNA polymerase II promoter • cell fate determination • osteoblast development • transcription, DNA-templated • segment specification • motor neuron axon guidance • anterior/posterior pattern specification • dorsal/ventral pattern formation • rhombomere 2 development • rhombomere 3 morphogenesis • brain segmentation • middle ear morphogenesis • negative regulation of neuron differentiation • negative regulation of osteoblast differentiation • positive regulation of transcription from RNA polymerase II promoter • embryonic viscerocranium morphogenesis • cellular response to retinoic acid Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3199	15399
Ensembl	ENSG00000105996	ENSMUSG00000014704
UniProt	O43364	P31245
RefSeq (mRNA)	NM_006735	NM_010451
RefSeq (protein)	NP_006726	NP_034581
Location (UCSC)	Chr 7: 27.1 – 27.1 Mb	Chr 6: 52.16 – 52.16 Mb
PubMed search

Homeobox protein Hox-A2 is a protein that in humans is encoded by the HOXA2 gene.^[1]

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.^[2]

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

• Homeobox

References

1. Scott MP (November 1992). "Vertebrate homeobox gene nomenclature". Cell 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
2. "Entrez Gene: HOXA2 homeobox A2".

Further reading

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