HOXA2 Chromosome 7
Homeobox A2
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
HOXL subclass homeoboxes
Locus Type
gene with protein product
Location
7p15.2
Ensembl
ENSG00000105996
Associated Conditions (5)
Bilateral microtia-deafness-cleft palate syndrome
Inborn genetic diseases
MICROTIA WITHOUT HEARING IMPAIRMENT
HOXA2-related disorder
MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT
Key Variants
RS143043350
Conflicting classifications of pathogenicity
Bilateral microtia-deafness-cleft palate syndrome, Bilateral microtia-deafness-cleft palate syndrome
Health Risk
RS750882072
Conflicting classifications of pathogenicity
Bilateral microtia-deafness-cleft palate syndrome, Inborn genetic diseases, Bilateral microtia-deafness-cleft palate syndrome
Health Risk
RS119489104
Pathogenic
Bilateral microtia-deafness-cleft palate syndrome, Bilateral microtia-deafness-cleft palate syndrome
Health Risk
RS1554334301
Pathogenic
MICROTIA WITHOUT HEARING IMPAIRMENT, MICROTIA WITHOUT HEARING IMPAIRMENT
Health Risk
RS2128035211
Pathogenic
Bilateral microtia-deafness-cleft palate syndrome, Bilateral microtia-deafness-cleft palate syndrome
Health Risk
RS2534513217
Pathogenic
HOXA2-related disorder, HOXA2-related disorder
Health Risk
RS398122360
Pathogenic
MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT, MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143043350 | Health Risk | Conflicting classifications of pathogenicity | Bilateral microtia-deafness-cleft palate syndrome, Bilateral microtia-deafness-cleft palate syndrome |
| RS750882072 | Health Risk | Conflicting classifications of pathogenicity | Bilateral microtia-deafness-cleft palate syndrome, Inborn genetic diseases, Bilateral microtia-deafness-cleft palate syndrome |
| RS119489104 | Health Risk | Pathogenic | Bilateral microtia-deafness-cleft palate syndrome, Bilateral microtia-deafness-cleft palate syndrome |
| RS1554334301 | Health Risk | Pathogenic | MICROTIA WITHOUT HEARING IMPAIRMENT, MICROTIA WITHOUT HEARING IMPAIRMENT |
| RS2128035211 | Health Risk | Pathogenic | Bilateral microtia-deafness-cleft palate syndrome, Bilateral microtia-deafness-cleft palate syndrome |
| RS2534513217 | Health Risk | Pathogenic | HOXA2-related disorder, HOXA2-related disorder |
| RS398122360 | Health Risk | Pathogenic | MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT, MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT |