WFS1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
WFS1 (HGNC:12762) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
wolframin ER transmembrane glycoprotein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNA6, DFNA14, DFNA38
Alias symbols
DIDMOAD, WFS
%HI
33.79(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.64(Read more about gnomAD LOEUF score)
Cytoband
4p16.1
Genomic Coordinates
GRCh37/hg19: chr4:6271577-6304992 NCBI Ensembl UCSC
GRCh38/hg38: chr4:6269850-6303265 NCBI Ensembl UCSC
MANE Select Transcript
NM_006005.3 ENST00000226760.5 (Read more about MANE Select)
Function
Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store (PubMed:16989814). Negatively regulates the ER stress response and positively regulates the stability of V-ATPase subunits ATP6V1A and ATP1B1 by preventing their degradation through an unknown proteasome-independent mechanism (PubMed:23035048). {ECO:0000269|PubMed:16989814, ECO:0000269|PubMed:23035048}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32768
ClinGen Curation ID:
CCID:008109
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
02/08/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
WFS1 is most commonly associated with Wolfran syndrome, an autosomal recessive phenotype (see OMIM #222300). Deletions, nonsense mutations, frameshift mutations, etc., have all been seen in the context of Wolfran syndrome. WFS1 is also associated with two autosomal dominant conditions - Wolfran-like syndrome (see OMIM #614296) and low frequency autosomal dominant hearing loss (see OMIM #600965). Thus far, only missense mutations have been reported in association with these phenotypes. It is believed that the missense mutations associated with the hearing loss phenotype function in a dominant-negative fashion (PMID: 12073007; PMID: 12955714). Additionally only a few mutations have been associated with AD Wolfran-like syndrome; the functional implications of these missense changes are unclear (PMID: 21538838). Reports have also suggested that carriers within Wolfran syndrome families are at an increased risk for psychiatric disease compared to noncarriers (PMID: 15852062, and others).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No reports found regarding triplosensitivity of WFS1.

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)