POU3F4 Chromosome X
POU class 3 homeobox 4
Upload your DNA to see your personal genotypes for variants in POU3F4.
What This Gene Does
This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor differentiation. Mutations in this gene are associated with X chromosome-linked nonsyndromic mixed deafness. [provided by RefSeq, Dec 2012]
Gene Info
Gene Group
POU class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
Xq21.1
Ensembl
ENSG00000196767
Associated Conditions (7)
X-linked mixed hearing loss with perilymphatic gusher
Inborn genetic diseases
POU3F4-related disorder
Ear malformation
Rare genetic deafness
Nonsyndromic genetic hearing loss
Autosomal recessive sensorineural hearing loss
Key Variants
RS1060499806
Conflicting classifications of pathogenicity
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
Health Risk
RS186010225
Conflicting classifications of pathogenicity
Inborn genetic diseases, POU3F4-related disorder, Inborn genetic diseases
Health Risk
RS200696740
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS367805648
Conflicting classifications of pathogenicity
Health Risk
RS765593474
Conflicting classifications of pathogenicity
Inborn genetic diseases, POU3F4-related disorder, Inborn genetic diseases
Health Risk
RS770776910
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS104894922
Likely pathogenic
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
Health Risk
RS1555984518
Likely pathogenic
Health Risk
RS1569280197
Likely pathogenic
Health Risk
RS1602641906
Likely pathogenic
Ear malformation, Ear malformation
Health Risk
RS2520215518
Likely pathogenic
X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
Health Risk
RS2520216475
Likely pathogenic
Health Risk
All Variants (54)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS876657719 | Health Risk | Pathogenic | Rare genetic deafness, X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS878853242 | Health Risk | Pathogenic | X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS926775037 | Health Risk | Pathogenic | X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher |
| RS111033343 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Rare genetic deafness |