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	[1]	[2]

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

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