| Entrez Gene ID | 5456 |
|---|---|
| Official Gene Symbol | POU3F4 (GeneCards) |
| Full name | POU class 3 homeobox 4 |
| Location | Xq21.1 |
| Other ids | Vega : OTTHUMG00000021919 MIM : 300039 HGNC : HGNC:9217 Ensembl : ENSG00000196767 |
| Other names | BRN4, DFN3, OTF9, BRN-4, DFNX2, OCT-9, OTF-9, BRAIN-4 |
| Summary | 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] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22343 | 5456 | POU3F4 | X | 82892897 | 82892897 | Xeroderma Pigmentosum | HiSeq X Ten |
| 24140 | 5456 | POU3F4 | X | 83070017 | 83070017 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29030 | 5456 | POU3F4 | X | 83012194 | 83012194 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 29944 | 5456 | POU3F4 | X | 82764282 | 82764282 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |