POU4F3 - POU class 4 homeobox 3 Gene
Also Known as BRN3C; DFNA15; DFNA42; DFNA52
Species: Homo sapiens
About POU4F3
This gene has 1 transcript (splice variant), 203 orthologues, 17 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.
Summary
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]
POU4F3 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_002700.3 | NP_002691.1 | POU domain, class 4, transcription factor 3 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables DNA-binding transcription activator activity, RNA polymerase II-specific |
IDA
IDA: Inferred from direct assay
|
15465029 | GOA |
| enables RNA polymerase II cis-regulatory region sequence-specific DNA binding |
IDA
IDA: Inferred from direct assay
|
15465029 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32296183 | GOA |
| enables sequence-specific double-stranded DNA binding |
IDA
IDA: Inferred from direct assay
|
28473536 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in positive regulation of transcription by RNA polymerase II |
IDA
IDA: Inferred from direct assay
|
15465029 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
28790396 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
28790396 | GOA |
POU4F3 Protein Structure
Pou: Pou domain - N-terminal to homeobox domain (181 - 256)
Homeobox: Homeobox domain (275 - 331)
- 0
- 100
- 200
- 300
- 338 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
POU domain, class 4, transcription factor 3 |
|
POU4F3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
POU4F3 | Q15319 | NHLRC4 | Homo sapiens | P0CG21 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | NHLRC4 | Homo sapiens | P0CG21 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | KRTAP6-3 | Homo sapiens | Q3LI67 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | KRTAP6-3 | Homo sapiens | Q3LI67 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | GOLGA2 | Homo sapiens | Q08379 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | GOLGA2 | Homo sapiens | Q08379 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | PLA2G10 | Homo sapiens | O15496 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | PLA2G10 | Homo sapiens | O15496 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | DUSP21 | Homo sapiens | Q9H596 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | DUSP21 | Homo sapiens | Q9H596 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | DUSP21 | Homo sapiens | Q9H596 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | KRT31 | Homo sapiens | Q15323 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | KRT31 | Homo sapiens | Q15323 | 32296183 | |
|
Intra
|
POU4F3 | Q15319 | KRT31 | Homo sapiens | Q15323 | 32296183 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Deafness, Autosomal Dominant 15 |
|
|
| Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna |
|
|
| Deafness, Autosomal Dominant 52 |
|
|
| Autosomal Recessive Nonsyndromic Deafness |
|
|
| Deafness, Autosomal Dominant 9 |
|
|
| Deafness, Autosomal Recessive 76 |
|
|
| Deafness, Autosomal Recessive 101 |
|
|
| Deafness, Autosomal Dominant 44 |
|
|
| Thrombophlebitis Migrans |
|
|
| Deafness, Autosomal Dominant 50 |
|
|
| Deafness, Autosomal Dominant 13 |
|
|
| Drug-Induced Hearing Loss |
|
|
| Deafness, Autosomal Dominant 41 |
|
|
| Deafness, Autosomal Dominant 18 |
|
|
| Deafness, Autosomal Dominant 22 |
|
|
| Deafness, Autosomal Dominant 2b |
|
|
| Deafness, X-Linked 2 |
|
|
| Deafness, Autosomal Dominant 11 |
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
|
| Keratitis, Hereditary |
|
|
| X-Linked Nonsyndromic Deafness |
|
|
| Deafness, Autosomal Dominant 16 |
|
|
| Deafness, Autosomal Recessive 1b |
|
|
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
|
| Deafness, Autosomal Dominant 10 |
|
|
| Auditory System Disease |
|
|
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
|
| Inner Ear Disease |
|
|
| Usher Syndrome |
|
|
| Usher Syndrome, Type I |
|
|
| Sensorineural Hearing Loss |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | POU4F3 | RGD | RGD:1310459 |
| Bos taurus | POU4F3 | VGNC | VGNC:33179 |
| Mus musculus | POU4F3 | MGD | MGI:102523 |
| Canis familiaris | POU4F3 | VGNC | VGNC:44832 |
| Felis catus | POU4F3 | VGNC | VGNC:68969 |
| Others | POU4F3 | NCBI |