Species

Homo sapiens

Symbol

WFS1

Name

wolframin ER transmembrane glycoprotein

Synonyms

CTRCT41
FLJ51211

Biotype

protein coding gene

Automated Description

Enables ATPase binding activity and ubiquitin protein ligase binding activity. Involved in several processes, including negative regulation of ATF6-mediated unfolded protein response; negative regulation of apoptotic process; and protein stabilization. Located in endoplasmic reticulum membrane and secretory granule. Implicated in several diseases, including Wolfram syndrome (multiple); auditory system disease (multiple); cataract 41; diabetes mellitus (multiple); and optic atrophy (multiple).

RGD Description

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]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR13098

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

Phenotype Term	Annotation details	References
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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

Cell color indicative of annotation volume

No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Download all Alleles/Variants for all genes of the species

Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
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Sequence Feature Viewer

Genome location

Chr4:6269849...6303265 + (33.42 kb)

Assembly version

GRCh38

Viewer Help

Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

WFS1 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

WFS1 role	WFS1 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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