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POU4F3 POU class 4 homeobox 3 [ Homo sapiens (human) ]

Gene ID: 5459, updated on 15-Apr-2019

Summary

Official Symbol
POU4F3provided by HGNC
Official Full Name
POU class 4 homeobox 3provided by HGNC
Primary source
HGNC:HGNC:9220
See related
Ensembl:ENSG00000091010 MIM:602460
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BRN3C; DFNA15; DFNA42; DFNA52
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See POU4F3 in Genome Data Viewer
Location:
5q32
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (146339024..146340520)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (145718587..145720083)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L35a pseudogene 17 Neighboring gene leucyl-tRNA synthetase Neighboring gene RNA binding motif protein 27 Neighboring gene RNA, U7 small nuclear 180 pseudogene Neighboring gene uncharacterized LOC105378213 Neighboring gene transcription elongation regulator 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138412

Gene Ontology Provided by GOA

Process Evidence Code Pubs
axon extension IEA
Inferred from Electronic Annotation
more info
 
inner ear auditory receptor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
retinal ganglion cell axon guidance IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
vestibulocochlear nerve development IEA
Inferred from Electronic Annotation
more info
 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
POU domain, class 4, transcription factor 3
Names
brain-3C
brain-specific homeobox/POU domain protein 3C
brn-3C
deafness, autosomal dominant 42

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011885.1 RefSeqGene

    Range
    4816..7705
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002700.3NP_002691.1  POU domain, class 4, transcription factor 3

    See identical proteins and their annotated locations for NP_002691.1

    Status: REVIEWED

    Source sequence(s)
    AC011396
    Consensus CDS
    CCDS4281.1
    UniProtKB/Swiss-Prot
    Q15319
    Related
    ENSP00000495718.1, ENST00000646991.2
    Conserved Domains (2) summary
    smart00352
    Location:179256
    POU; Found in Pit-Oct-Unc transcription factors
    pfam00046
    Location:277330
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    146339024..146340520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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