Gene: WFS1

Alternate names for this Gene: CTRCT41|WFRS|WFS|WFSL

Gene Summary: This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.1

Description of this Gene: wolframin ER transmembrane glycoprotein

Type of Gene: protein-coding

rs4689388 in WFS1 gene and Autoantibody measurement PMID 19734900 2009 Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.

rs4689388 in WFS1 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs104893882 in WFS1 gene and DEAFNESS, AUTOSOMAL DOMINANT 6 PMID 11709537 2001 Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

PMID 25388789 2014 Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

PMID 12181639 2002 Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

PMID 11709538 2001 Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

PMID 18688868 2008 Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

PMID 17517145 2007 A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.

PMID 18518985 2008 A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings.

PMID 21356526 2011 Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.

PMID 24462758 2014 WFS1 and non-syndromic low-frequency sensorineural hearing loss: a novel mutation in a Portuguese case.

rs1801212 in WFS1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

PMID 20581827 2010 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.

PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 23300278 2013 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

PMID 22325160 2012 Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.

PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

PMID 21647700 2011 Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals.

PMID 19734900 2009 Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.

rs4458523 in WFS1 gene and Fasting blood glucose measurement PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

rs4458523 in WFS1 gene and Fasting blood sugar result PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

rs6823148 in WFS1 gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs62283056 in WFS1 gene and Ototoxicity PMID 28039263 2017 Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity.

rs6823148 in WFS1 gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs6823148 in WFS1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1402999203 in WFS1 gene and Wolfram Syndrome 1 PMID 9771706 1998 A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).

PMID 10521293 1999 Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.

PMID 21538838 2011 Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

PMID 11161832 2001 Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

PMID 22226368 2012 Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.

PMID 9817917 1998 Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

PMID 15605410 2005 Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.

PMID 11295831 2001 Identification of novel WFS1 mutations in Italian children with Wolfram syndrome.

PMID 23981289 2013 Phenotypic characteristics of early Wolfram syndrome.

PMID 26875006 2016 Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.

PMID 21067485 2010 Congenital cataracts in two siblings with Wolfram syndrome.

PMID 22238590 2012 Wolfram syndrome: new mutations, different phenotype.

PMID 26435059 2015 Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.

PMID 9856492 1998 Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family.

PMID 17603484 2007 Common variants in WFS1 confer risk of type 2 diabetes.

PMID 18040659 2008 Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations.

PMID 25211237 2014 Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs387906930 in WFS1 gene and Wolfram-Like Syndrome, Autosomal Dominant PMID 16648378 2006 Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene.

PMID 21538838 2011 Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.

PMID 20069065 2010 Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.