WHRN (whirlin)

2016-05-01 Affiliation

Identity

HGNC

WHRN

LOCATION

9q32

LOCUSID

25861

ALIAS

CIP98,DFNB31,PDZD7B,USH2D,WI

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: 25861
MIM: 607928
HGNC: 16361
Ensembl: ENSG00000095397

Variants:

dbSNP: 25861
ClinVar: 25861
TCGA: ENSG00000095397
COSMIC: WHRN

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000095397	ENST00000265134	Q9P202
ENSG00000095397	ENST00000362057	Q9P202
ENSG00000095397	ENST00000374057	Q9P202

Expression (GTEx)

100

150

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
12833159	2003	Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.	126
17171570	2007	A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss.	91
16434480	2006	The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.	77
22147658	2012	Non-USH2A mutations in USH2 patients.	21
12641734	2003	CIP98, a novel PDZ domain protein, is expressed in the central nervous system and interacts with calmodulin-dependent serine kinase.	16
24022220	2013	Usher proteins in inner ear structure and function.	13
21738389	2011	A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.	9
20583170	2010	Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.	8
20352026	2010	Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.	7
20352026	2010	Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.	7

Citation

Dessen P

WHRN (whirlin)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55761/whrn