Protein-coding gene in the species Homo sapiens
Homeobox protein Hox-A2 is a protein that in humans is encoded by the HOXA2 gene .[5]
Function [ edit ] 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.[6]
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 [ edit ] References [ edit ] Further reading [ edit ]
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 .
(1) Basic domains
(1.1) Basic leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH )
Group A Group B Group CPAS Group D Group E Group F
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2) Zinc finger DNA-binding domains
(2.1) Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors
