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
379311512024High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.0
387219482024Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome.0
379311512024High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes.0
387219482024Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome.0
367643962023Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.2
369581202023Novel WFS1 mutations in patients with low-to-middle frequency hearing loss.0
369808092023Genetic Variants of HNF4A, WFS1, DUSP9, FTO, and ZFAND6 Genes Are Associated with Prediabetes Susceptibility and Inflammatory Markers in the Saudi Arabian Population.0
371639792023Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome.3
372775272023The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.1
374406642023Selective proteasome degradation of C-terminally-truncated human WFS1 in pancreatic beta cells.0
378599802023The miR-668 binding site variant rs1046322 on WFS1 is associated with obesity in Southeast Asians.0
367643962023Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.2
369581202023Novel WFS1 mutations in patients with low-to-middle frequency hearing loss.0
369808092023Genetic Variants of HNF4A, WFS1, DUSP9, FTO, and ZFAND6 Genes Are Associated with Prediabetes Susceptibility and Inflammatory Markers in the Saudi Arabian Population.0
371639792023Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome.3

Citation

Dessen P

WFS1 (wolframin ER transmembrane glycoprotein)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56307/wfs1-(wolframin-er-transmembrane-glycoprotein)