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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)