POU4F3 (POU class 4 homeobox 3)

2007-02-01 Affiliation

Identity

HGNC

POU4F3

LOCATION

5q32

LOCUSID

5459

ALIAS

BRN3C,DFNA15,DFNA42,DFNA52

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 5459
MIM: 602460
HGNC: 9220
Ensembl: ENSG00000091010

Variants:

dbSNP: 5459
ClinVar: 5459
TCGA: ENSG00000091010
COSMIC: POU4F3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000091010	ENST00000646991	Q15319

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18228599	2008	Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.	23
12209986	2002	Proneural and proneuroendocrine transcription factor expression in cutaneous mechanoreceptor (Merkel) cells and Merkel cell carcinoma.	19
14585957	2003	The DFNA15 deafness mutation affects POU4F3 protein stability, localization, and transcriptional activity.	16
15465029	2004	Brn-3c (POU4F3) regulates BDNF and NT-3 promoter activity.	14
20434433	2010	A novel frameshift mutation of POU4F3 gene associated with autosomal dominant non-syndromic hearing loss.	14
27083884	2016	Genetics of vestibular disorders: pathophysiological insights.	14
28545070	2017	POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.	14
24275721	2014	Genetics of dizziness: cerebellar and vestibular disorders.	13
25015561	2015	Transcription factors with conserved binding sites near ATOH1 on the POU4F3 gene enhance the induction of cochlear hair cells.	12
24260153	2013	SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).	11

Citation

Dessen P

POU4F3 (POU class 4 homeobox 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46553/pou4f3