WFS1 wolframin ER transmembrane glycoprotein
Gene ID: 7466, updated on 27-Nov-2024Gene type: protein coding
Also known as: WFS; WFRS; WFSL; CTRCT41
- See all available tests in GTR for this gene
- Go to complete Gene record for WFS1
- Go to Variation Viewer for WFS1 variants
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. [provided by RefSeq, Mar 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autosomal dominant nonsyndromic hearing loss 6 | See labs |
| Cataract 41 | See labs |
| Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia. GeneReviews: Not available | |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. GeneReviews: Not available | |
| Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. GeneReviews: Not available | |
| Type 2 diabetes mellitus | See labs |
| Wolfram syndrome 1 | See labs |
| Wolfram-like syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-02-08) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-02-08) ClinGen Genome Curation Page |
Genomic context
- Location:
- 4p16.1
- Sequence:
- Chromosome: 4; NC_000004.12 (6269850..6303265)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for WFS1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCHMC - Human Genetics Mutation Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Hereditary Hearing Loss Homepage
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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