HOXA2
Identifiers
Aliases	HOXA2, HOX1K, MCOHI, homeobox A2
External IDs	OMIM: 604685 MGI: 96174 HomoloGene: 4901 GeneCards: HOXA2
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7p15.2 Start 27,100,354 bp[1] End 27,102,686 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 B3|6 25.4 cM Start 52,139,397 bp[2] End 52,141,811 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa left uterine tube ascending aorta rectum stromal cell of endometrium right uterine tube upper lobe of left lung sural nerve smooth muscle tissue right lung Top expressed in neuromere rhombomere thoracic diaphragm main bronchus tongue female urethra ureter trachea salivary gland neck 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 [3] [4]
Wikidata
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Homeobox protein Hox-A2 is a protein that in humans is encoded by the HOXA2 gene.^[5]

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.^[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.