POU3F4 (POU class 3 homeobox 4)

2014-11-01 Affiliation

Identity

HGNC

POU3F4

LOCATION

Xq21.1

LOCUSID

5456

ALIAS

BRAIN-4,BRN-4,BRN4,DFN3,DFNX2,OCT-9,OTF-9,OTF9

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: 5456
MIM: 300039
HGNC: 9217
Ensembl: ENSG00000196767

Variants:

dbSNP: 5456
ClinVar: 5456
TCGA: ENSG00000196767
COSMIC: POU3F4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000196767	ENST00000644024	A0A2R8Y739

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

References

Pubmed ID	Year	Title	Citations
9667433	1998	Changes in the subcellular localization of the Brn4 gene product precede mesenchymal remodeling of the otic capsule.	19
20668882	2010	Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.	17
19930154	2009	Phenotype and genotype in females with POU3F4 mutations.	13
9889200	1999	A role for the POU-III transcription factor Brn-4 in the regulation of striatal neuron precursor differentiation.	12
20412083	2010	Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA.	11
22389666	2012	Common molecular etiologies are rare in nonsyndromic Tibetan Chinese patients with hearing impairment.	11
12062767	2002	Late-onset hearing loss in a mouse model of DFN3 non-syndromic deafness: morphologic and immunohistochemical analyses.	10
12062767	2002	Late-onset hearing loss in a mouse model of DFN3 non-syndromic deafness: morphologic and immunohistochemical analyses.	10
19438930	2009	Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants.	10
19671658	2009	Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein.	10

Citation

Dessen P

POU3F4 (POU class 3 homeobox 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72094/pou3f4