POU3F3 Chromosome 2
POU class 3 homeobox 3
Upload your DNA to see your personal genotypes for variants in POU3F3.
What This Gene Does
This gene encodes a POU-domain containing protein that functions as a transcription factor. The encoded protein recognizes an octamer sequence in the DNA of target genes. This protein may play a role in development of the nervous system. [provided by RefSeq, Apr 2015]
Gene Info
Gene Group
POU class homeoboxes and pseudogenes
Locus Type
gene with protein product
Location
2q12.1
Ensembl
ENSG00000198914
Associated Conditions (4)
Inborn genetic diseases
Snijders blok-fisher syndrome
Developmental disorder
Intellectual disability
Key Variants
RS993106557
Conflicting classifications of pathogenicity
Health Risk
RS1303053833
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553426462
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1573321115
Likely pathogenic
Snijders blok-fisher syndrome, Inborn genetic diseases, Snijders blok-fisher syndrome
Health Risk
RS1676571415
Likely pathogenic
Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
Health Risk
RS1676571583
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1676574002
Likely pathogenic
Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
Health Risk
RS1676574259
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2104340988
Likely pathogenic
Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
Health Risk
RS2104341000
Likely pathogenic
Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
Health Risk
RS2104341097
Likely pathogenic
Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
Health Risk
RS2104341254
Likely pathogenic
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS993106557 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1303053833 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553426462 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1573321115 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Inborn genetic diseases, Snijders blok-fisher syndrome |
| RS1676571415 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS1676571583 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1676574002 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS1676574259 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2104340988 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2104341000 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2104341097 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2104341254 | Health Risk | Likely pathogenic | — |
| RS2466874387 | Health Risk | Likely pathogenic | — |
| RS2466874873 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2466874909 | Health Risk | Likely pathogenic | — |
| RS2466875718 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2466876570 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2466876690 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2466876835 | Health Risk | Likely pathogenic | — |
| RS2466876904 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2466877069 | Health Risk | Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2466877081 | Health Risk | Likely pathogenic | — |
| RS1424499058 | Health Risk | Pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS1573320043 | Health Risk | Pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS1573320413 | Health Risk | Pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2104340694 | Health Risk | Pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2104340954 | Health Risk | Pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2104340970 | Health Risk | Pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2104341046 | Health Risk | Pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2466874287 | Health Risk | Pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2466874333 | Health Risk | Pathogenic | Developmental disorder, Developmental disorder |
| RS2466875437 | Health Risk | Pathogenic | — |
| RS2466875711 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2466875788 | Health Risk | Pathogenic | — |
| RS2466876820 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS2466876822 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1158292126 | Health Risk | Pathogenic/Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS1553426479 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1573319752 | Health Risk | Pathogenic/Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS1573320988 | Health Risk | Pathogenic/Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2104340466 | Health Risk | Pathogenic/Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |
| RS2466875541 | Health Risk | Pathogenic/Likely pathogenic | Snijders blok-fisher syndrome, Snijders blok-fisher syndrome |