WHRN (whirlin)

2016-05-01  

Identity

HGNC
WHRN
LOCATION
9q32
LOCUSID
25861
ALIAS
CIP98,DFNB31,PDZD7B,USH2D,WI

Other Information

Locus ID:

NCBI: 25861
MIM: 607928
HGNC: 16361
Ensembl: ENSG00000095397

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095397ENST00000265134Q9P202
ENSG00000095397ENST00000362057Q9P202
ENSG00000095397ENST00000374057Q9P202

Expression (GTEx)

0
50
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 IDYearTitleCitations
379244492023Novel pathogenic WHRN variant causing hearing loss in a moroccan family.0
379244492023Novel pathogenic WHRN variant causing hearing loss in a moroccan family.0
335398792021Folding and Misfolding of a PDZ Tandem Repeat.4
336263552021Phase separation-mediated condensation of Whirlin-Myo15-Eps8 stereocilia tip complex.14
335398792021Folding and Misfolding of a PDZ Tandem Repeat.4
336263552021Phase separation-mediated condensation of Whirlin-Myo15-Eps8 stereocilia tip complex.14
308313812019Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.27
316381982019Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II.2
308313812019Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina.27
316381982019Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II.2
281379432017Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.27
292701002017Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.2
281379432017Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex.27
292701002017Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.2
234411072013The contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.10

Citation

Dessen P

WHRN (whirlin)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55761/whrn-(whirlin)