POU4F3 (POU class 4 homeobox 3)

2007-02-01  

Identity

HGNC
POU4F3
LOCATION
5q32
LOCUSID
5459
ALIAS
BRN3C,DFNA15,DFNA42,DFNA52

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000091010ENST00000646991Q15319

Expression (GTEx)

0
1
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
N/A

References

Pubmed IDYearTitleCitations
370725512023Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.2
375372032023Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects.4
370725512023Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.2
375372032023Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects.4
342500872021A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.1
342500872021A Missense POU4F3 Variant Associated with Autosomal Dominant Midfrequency Hearing Loss Alters Subnuclear Localization and Transcriptional Capabilities.1
323903142020Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.6
326849212020Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.6
323903142020Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.6
326849212020Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.6
298505322018A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.9
298505322018A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.9
275350322017Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss.18
285450702017POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.27
287903962017A novel missense variant in the nuclear localization signal of POU4F3 causes autosomal dominant non-syndromic hearing loss.14

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-(pou-class-4-homeobox-3)