HOXA2

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

HOXA2
Identifiers
Aliases	HOXA2, HOX1K, MCOHI, homeobox A2
External IDs	OMIM: 604685; MGI: 96174; HomoloGene: 4901; GeneCards: HOXA2; OMA:HOXA2 - orthologs
Gene location (Human) Chr. Chromosome 7 (human) Band 7p15.2 Start 27,100,354 bp End 27,102,686 bp
Gene location (Mouse) Chr. Chromosome 6 (mouse) Band 6 B3|6 25.4 cM Start 52,139,397 bp End 52,141,811 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in mucosa of transverse colon Descending thoracic aorta C1 segment gastric mucosa left uterine tube ascending aorta muscle layer of sigmoid colon body of uterus tibial arteries rectum Top expressed in neuromere rhombomere tail of embryo thoracic diaphragm main bronchus tongue genital tubercle female urethra hair ureter More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription factor activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription repressor activity, RNA polymerase II-specific Cellular component nucleus intracellular membrane-bounded organelle Biological process regulation of transcription, DNA-templated transcription, DNA-templated multicellular organism development negative regulation of transcription by RNA polymerase II cell fate determination osteoblast development segment specification pattern specification process motor neuron axon guidance anterior/posterior pattern specification dorsal/ventral pattern formation rhombomere 2 development rhombomere 3 development rhombomere 3 morphogenesis brain segmentation middle ear morphogenesis cell fate commitment negative regulation of neuron differentiation negative regulation of osteoblast differentiation positive regulation of transcription by RNA polymerase II embryonic viscerocranium morphogenesis embryonic skeletal system morphogenesis cellular response to retinoic acid regulation of transcription by RNA polymerase II 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: 52.14 – 52.14 Mb PubMed search
Wikidata
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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.

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

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. Bibcode:2003Sci...300..767S. 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. Bibcode:2003Natur.424..157H. 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. Bibcode:2002PNAS...9916899M. 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. S2CID 13370372.
• 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.