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)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37924449 | 2023 | Novel pathogenic WHRN variant causing hearing loss in a moroccan family. | 0 |
| 37924449 | 2023 | Novel pathogenic WHRN variant causing hearing loss in a moroccan family. | 0 |
| 33539879 | 2021 | Folding and Misfolding of a PDZ Tandem Repeat. | 4 |
| 33626355 | 2021 | Phase separation-mediated condensation of Whirlin-Myo15-Eps8 stereocilia tip complex. | 14 |
| 33539879 | 2021 | Folding and Misfolding of a PDZ Tandem Repeat. | 4 |
| 33626355 | 2021 | Phase separation-mediated condensation of Whirlin-Myo15-Eps8 stereocilia tip complex. | 14 |
| 30831381 | 2019 | Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. | 27 |
| 31638198 | 2019 | Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II. | 2 |
| 30831381 | 2019 | Usher syndrome and non-syndromic deafness: Functions of different whirlin isoforms in the cochlea, vestibular organs, and retina. | 27 |
| 31638198 | 2019 | Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II. | 2 |
| 28137943 | 2017 | Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. | 27 |
| 29270100 | 2017 | Common 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 |
| 28137943 | 2017 | Characterization of the ternary Usher syndrome SANS/ush2a/whirlin protein complex. | 27 |
| 29270100 | 2017 | Common 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 |
| 23441107 | 2013 | The 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)
