WFS1 (wolframin ER transmembrane glycoprotein)

2016-10-01  

Identity

HGNC
LOCATION
4p16.1
LOCUSID
ALIAS
CTRCT41,WFRS,WFS,WFSL

Other Information

Locus ID:

NCBI: 7466
MIM: 606201
HGNC: 12762
Ensembl: ENSG00000109501

Variants:

dbSNP: 7466
ClinVar: 7466
TCGA: ENSG00000109501
COSMIC: WFS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109501ENST00000226760O76024
ENSG00000109501ENST00000226760A0A0S2Z4V6
ENSG00000109501ENST00000503569O76024
ENSG00000109501ENST00000503569A0A0S2Z4V6
ENSG00000109501ENST00000506362H0Y9G5

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
190203242008Clinical risk factors, DNA variants, and the development of type 2 diabetes.262
197349002009Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.167
185913882008Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.129
201603522010Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells.127
176034842007Common variants in WFS1 confer risk of type 2 diabetes.126
176034842007Common variants in WFS1 confer risk of type 2 diabetes.126
186949742008Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.121
193808542009Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry.108
161952292005WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells.102
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92

Citation

Dessen P

WFS1 (wolframin ER transmembrane glycoprotein)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56307/wfs1