HOXA2

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HOXA2
Identifiers
AliasesHOXA2, HOX1K, MCOHI, homeobox A2
External IDsOMIM: 604685 MGI: 96174 HomoloGene: 4901 GeneCards: HOXA2
Gene location (Human)
Chromosome 7 (human)
Chr.Chromosome 7 (human)[1]
Chromosome 7 (human)
Genomic location for HOXA2
Genomic location for HOXA2
Band7p15.2Start27,100,354 bp[1]
End27,102,686 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006735

NM_010451

RefSeq (protein)

NP_006726

NP_034581

Location (UCSC)Chr 7: 27.1 – 27.1 MbChr 6: 52.16 – 52.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000105996 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000014704 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Scott MP (November 1992). "Vertebrate homeobox gene nomenclature". Cell. 71 (4): 551–3. doi:10.1016/0092-8674(92)90588-4. PMID 1358459.
  6. ^ "Entrez Gene: HOXA2 homeobox A2".

Further reading[edit]