POU4F3 Chromosome 5
POU class 4 homeobox 3
Upload your DNA to see your personal genotypes for variants in POU4F3.
What This Gene Does
This gene encodes a member of the POU-domain family of transcription factors. POU-domain proteins have been observed to play important roles in control of cell identity in several systems. This protein is found in the retina and may play a role in determining or maintaining the identities of a small subset of visual system neurons. Defects in this gene are the cause of non-syndromic sensorineural deafness autosomal dominant type 15. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
POU class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000091010
Associated Conditions (8)
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 15
POU4F3-related disorder
Hearing impairment
Rare genetic deafness
Autosomal recessive sensorineural hearing loss
Hearing loss
autosomal recessive
Key Variants
RS138310635
Conflicting classifications of pathogenicity
Health Risk
RS139312280
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141235724
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
Health Risk
RS142405319
Conflicting classifications of pathogenicity
Health Risk
RS145372405
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 15, POU4F3-related disorder, Autosomal dominant nonsyndromic hearing loss 15
Health Risk
RS149303333
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 15, POU4F3-related disorder, Autosomal dominant nonsyndromic hearing loss 15
Health Risk
RS1581278124
Conflicting classifications of pathogenicity
Health Risk
RS1760429451
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
Health Risk
RS368239745
Conflicting classifications of pathogenicity
Health Risk
RS370712489
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 15, Hearing impairment, Inborn genetic diseases
Health Risk
RS756195567
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 15, POU4F3-related disorder, Autosomal dominant nonsyndromic hearing loss 15
Health Risk
RS759713394
Conflicting classifications of pathogenicity
Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138310635 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139312280 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141235724 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS142405319 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145372405 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 15, POU4F3-related disorder, Autosomal dominant nonsyndromic hearing loss 15 |
| RS149303333 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 15, POU4F3-related disorder, Autosomal dominant nonsyndromic hearing loss 15 |
| RS1581278124 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1760429451 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS368239745 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370712489 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 15, Hearing impairment, Inborn genetic diseases |
| RS756195567 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 15, POU4F3-related disorder, Autosomal dominant nonsyndromic hearing loss 15 |
| RS759713394 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS764308870 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS781289197 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS1284441535 | Health Risk | Likely pathogenic | Hearing impairment, Hearing impairment |
| RS1339291105 | Health Risk | Likely pathogenic | — |
| RS1554087566 | Health Risk | Likely pathogenic | — |
| RS1581278366 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS1760430376 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS1760431636 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS2126961983 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS2126962041 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS2479692745 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS2479692800 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS2479693648 | Health Risk | Likely pathogenic | — |
| RS2479693752 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS758938669 | Health Risk | Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS759091617 | Health Risk | Likely pathogenic | — |
| RS1064792854 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS121909056 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS121909057 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS1760419273 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS2126960889 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS2126960899 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS2126961298 | Health Risk | Pathogenic | — |
| RS2126961780 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS2479690433 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS2479692447 | Health Risk | Pathogenic | — |
| RS2479693124 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS2479693967 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS398123070 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS398124631 | Health Risk | Pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS1561590396 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive sensorineural hearing loss, Hearing loss, autosomal recessive |
| RS766631025 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |