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

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; AllianceGenome:HGNC:9220
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: mouse all
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Genomic context

Location:: 5q32

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (146338839..146341728)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (146874404..146877293)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (145718402..145721291)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects.
Title: Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects.
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
Title: Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.
A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.
Title: A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
Title: Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.
Title: Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.
Findings expanded the mutation spectrum of POU4F3 and suggest the pathogenesis associated with aberrant POU4F3 localization.
Title: A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.
POU4F3 c.602T>C (p.Leu201Pro) is related to midfrequency hearing loss.
Title: A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.
report the first nonsense mutation of POU4F3 associated with progressive hearing loss and explored the possible underlying mechanism
Title: A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss.
DFNA52 were mapped between STR D5S2056 and D5S638 on chromosome, and analysis candidate genes in this region did not reveal any potentially pathogenic mutations segregating with congenital sensorineural hearing loss.
Title: [Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus].
Mutations in POU4F3 are a relatively common cause of autosomal dominant nonsyndromic hearing loss in Chinese Hans.
Title: Mutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese Hans.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 15 MedGen: C1865366 OMIM: 602459 GeneReviews: Genetic Hearing Loss Overview	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-11-29) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-11-29) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481349

Pou4f3 (e-PCR), detects polymorphism
- UniSTS:276146

NoName (e-PCR)
- UniSTS:483311

Readthrough LOC127814297

Readthrough gene: LOC127814297, Included gene: RBM27

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

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

Component	Evidence Code	Pubs
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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

NG_011885.1 RefSeqGene

Range

4816..7705

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1355

mRNA and Protein(s)

NM_002700.3 → NP_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

O60557, Q15319, Q2M3F8

Related

ENSP00000495718.1, ENST00000646991.2

Conserved Domains (2) summary

smart00352
Location:179 → 256

POU; Found in Pit-Oct-Unc transcription factors

pfam00046
Location:277 → 331

Homeobox; Homeobox domain