POU4F3

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]

Full Name

POU class 4 homeobox 3

Function

Acts as a transcriptional activator (PubMed:18228599).
Acts by binding to sequences related to the consensus octamer motif 5'-ATGCAAAT-3' in the regulatory regions of its target genes (PubMed:18228599).
Involved in the auditory system development, required for terminal differentiation of hair cells in the inner ear (By similarity).

Biological Process

Axon extensionIEA:Ensembl
Inner ear auditory receptor cell differentiationIEA:Ensembl
Inner ear morphogenesisIEA:Ensembl
Neuromuscular process controlling balanceIEA:Ensembl
Neuron apoptotic processIEA:Ensembl
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:NTNU_SB
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Retinal ganglion cell axon guidanceIEA:Ensembl
Sensory perception of soundManual Assertion Based On ExperimentTAS:ProtInc
Vestibulocochlear nerve developmentIEA:Ensembl
Visual perceptionManual Assertion Based On ExperimentTAS:ProtInc

Cellular Location

Nucleus
Cytoplasm
Preferentially localized in the nucleus.

Involvement in disease

Deafness, autosomal dominant, 15 (DFNA15):
A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms.