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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WFS1
wolframin ER transmembrane glycoprotein
Chromosome 4 Β· 4p16.1
NCBI Gene: 7466Ensembl: ENSG00000109501.16HGNC: HGNC:12762UniProt: A0A0S2Z4V6
263PubMed Papers
24Diseases
0Drugs
233Pathogenic Variants
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of response to endoplasmic reticulum stressERAD pathwayglucose homeostasisnegative regulation of apoptotic processWolfram syndromeWolfram-like syndrometype 2 diabetes mellitusautosomal dominant nonsyndromic hearing loss
✦AI Summary

WFS1 encodes wolframin, an endoplasmic reticulum (ER) membrane glycoprotein that plays critical roles in cellular calcium homeostasis and ER stress regulation 1. The protein participates in regulating cellular Ca2+ homeostasis by modulating ER calcium store filling and negatively regulates ER stress responses 1. WFS1 is essential for mitochondria-associated ER membrane (MAM) integrity and functionality, facilitating ER-to-mitochondria calcium transfer 2. Loss of WFS1 function results in reduced mitochondrial calcium uptake, bioenergetic dysfunction, and enhanced autophagy and mitophagy 2. In pancreatic Ξ² cells, WFS1 deficiency leads to cellular dedifferentiation and loss of insulin-producing capacity through mechanisms involving decreased ATP content and impaired oxidative glycolysis 3. Mutations in WFS1 cause a spectrum of disorders ranging from severe autosomal recessive Wolfram syndrome (characterized by diabetes, optic atrophy, deafness, and diabetes insipidus) to milder autosomal dominant Wolfram-like syndrome 4. The protein's dysfunction contributes to Ξ² cell failure in diabetes through ER stress-mediated pathways, with biallelic loss-of-function variants predicting full Wolfram syndrome with high specificity 5. WFS1-related diabetes is often misdiagnosed and requires genetic testing for proper identification and individualized treatment 6.

Sources cited
1
WFS1 encodes an ER membrane protein involved in calcium homeostasis and ER stress regulation
PMID: 20738327
2
Mutations cause spectrum from severe Wolfram syndrome to milder Wolfram-like syndrome
PMID: 36764396
3
WFS1-related diabetes is often misdiagnosed and requires genetic testing
PMID: 37277527
4
WFS1 is essential for MAM integrity and ER-mitochondria calcium transfer
PMID: 38651637
5
WFS1 deficiency causes Ξ² cell dedifferentiation and diabetes through metabolic dysfunction
PMID: 39970233
6
Biallelic loss-of-function variants predict Wolfram syndrome with high specificity
PMID: 28432734
Disease Associationsβ“˜24
Wolfram syndromeOpen Targets
0.85Strong
Wolfram-like syndromeOpen Targets
0.82Strong
type 2 diabetes mellitusOpen Targets
0.77Strong
autosomal dominant nonsyndromic hearing lossOpen Targets
0.75Strong
cataractOpen Targets
0.70Strong
diabetes mellitusOpen Targets
0.68Moderate
autosomal dominant nonsyndromic hearing loss 2AOpen Targets
0.58Moderate
sensorineural hearing lossOpen Targets
0.57Moderate
Rare genetic deafnessOpen Targets
0.54Moderate
optic atrophyOpen Targets
0.54Moderate
WFS1-related disorderOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.53Moderate
autism spectrum disorderOpen Targets
0.53Moderate
neurodegenerative diseaseOpen Targets
0.50Moderate
Retinal dystrophyOpen Targets
0.49Moderate
nonsyndromic genetic hearing lossOpen Targets
0.44Moderate
diabetic neuropathyOpen Targets
0.40Moderate
dermatophytosisOpen Targets
0.39Weak
Hearing impairmentOpen Targets
0.39Weak
Non-syndromic genetic deafnessOpen Targets
0.38Weak
Cataract 41UniProt
Deafness, autosomal dominant, 6UniProt
Wolfram syndrome 1UniProt
Wolfram-like syndrome autosomal dominantUniProt
Pathogenic Variants233
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter)Pathogenic
Diabetes mellitus|not provided|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome|WFS1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 273
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)Pathogenic
not provided|Wolfram syndrome|not specified|WFS1-Related Spectrum Disorders|Diabetes mellitus|Wolfram syndrome 1|WFS1-related disorder|Retinal dystrophy|Type 2 diabetes mellitus|Autosomal dominant and autosomal recessive WFS1-related disorders|Optic atrophy|Cataract 41;Wolfram syndrome 1;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram-like syndrome|Monogenic hearing loss
β˜…β˜…β˜†β˜†2026β†’ Residue 558
NM_006005.3(WFS1):c.2170C>T (p.Pro724Ser)Pathogenic
not provided|Wolfram syndrome 1
β˜…β˜…β˜†β˜†2026β†’ Residue 724
NM_006005.3(WFS1):c.2206G>A (p.Gly736Ser)Pathogenic
not provided|Wolfram syndrome 1|Wolfram-like syndrome|Monogenic hearing loss
β˜…β˜…β˜†β˜†2026β†’ Residue 736
NM_006005.3(WFS1):c.2104G>A (p.Gly702Ser)Pathogenic
not provided|Optic atrophy|Wolfram syndrome 1
β˜…β˜…β˜†β˜†2026β†’ Residue 702
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)Pathogenic
Wolfram-like syndrome|Wolfram syndrome 1|not provided|Rare genetic deafness;Wolfram syndrome 1|Inborn genetic diseases|Autosomal dominant nonsyndromic hearing loss 6|WFS1-related disorder|Autosomal dominant nonsyndromic hearing loss|Optic atrophy|WFS1 Spectrum Disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 684
NM_006005.3(WFS1):c.1243_1245del (p.Val415del)Pathogenic
not provided|Rare genetic deafness|WFS1-Related Spectrum Disorders|Wolfram syndrome 1|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome|WFS1-related disorder|Early-onset non-syndromic cataract
β˜…β˜…β˜†β˜†2026β†’ Residue 415
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr)Pathogenic
Autosomal dominant nonsyndromic hearing loss 6|not provided|Rare genetic deafness|Monogenic hearing loss
β˜…β˜…β˜†β˜†2026β†’ Residue 716
NM_006005.3(WFS1):c.376G>A (p.Ala126Thr)Pathogenic
not provided|Wolfram syndrome 1|Optic atrophy
β˜…β˜…β˜†β˜†2026β†’ Residue 126
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1])Pathogenic
Wolfram syndrome|Wolfram syndrome 1|not provided|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome|Inborn genetic diseases|WFS1-related disorder
β˜…β˜…β˜†β˜†2026
NM_006005.3(WFS1):c.1511C>T (p.Pro504Leu)Pathogenic
Wolfram syndrome 1|Wolfram syndrome 1;Wolfram-like syndrome|Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome;Cataract 41|not provided|WFS1-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 504
NM_006005.3(WFS1):c.409_424dup (p.Val142fs)Pathogenic
Wolfram syndrome 1|Wolfram syndrome|WFS1-Related Spectrum Disorders|not provided|Type 2 diabetes mellitus|Retinal dystrophy|Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome;Cataract 41
β˜…β˜…β˜†β˜†2026β†’ Residue 142
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter)Pathogenic
not provided|Cataract 41;Wolfram-like syndrome;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1
β˜…β˜…β˜†β˜†2025β†’ Residue 366
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)Pathogenic
not provided|Wolfram syndrome 1|Wolfram-like syndrome;Wolfram syndrome 1;Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus
β˜…β˜…β˜†β˜†2025β†’ Residue 882
NM_006005.3(WFS1):c.1673G>A (p.Arg558His)Pathogenic
not provided|Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Cataract 41;Wolfram syndrome 1;Wolfram-like syndrome|WFS1-related disorder|Wolfram syndrome|Inborn genetic diseases|Autosomal dominant nonsyndromic hearing loss 6;Wolfram syndrome 1|Wolfram syndrome 1|Optic atrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 558
NM_006005.3(WFS1):c.505G>A (p.Glu169Lys)Pathogenic
not provided|WFS1-related disorder|Wolfram syndrome 1|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome|Optic neuropathy|Autosomal dominant and autosomal recessive WFS1-related disorders
β˜…β˜…β˜†β˜†2025β†’ Residue 169
NM_006005.3(WFS1):c.2648_2651del (p.Phe883fs)Pathogenic
Wolfram syndrome 1|not provided|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 883
NM_006005.3(WFS1):c.631G>A (p.Asp211Asn)Pathogenic
not provided|Inborn genetic diseases|WFS1-related disorder|Cataract 41;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram syndrome 1;Wolfram-like syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 211
NM_006005.3(WFS1):c.1885C>T (p.Arg629Trp)Pathogenic
not provided|Wolfram syndrome 1|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 629
NM_006005.3(WFS1):c.2293del (p.Cys765fs)Pathogenic
Wolfram syndrome 1;Autosomal dominant nonsyndromic hearing loss 6;Type 2 diabetes mellitus;Wolfram-like syndrome;Cataract 41|Wolfram syndrome 1
β˜…β˜…β˜†β˜†2025β†’ Residue 765
View on ClinVar β†—
Related Genes
CISD2Protein interaction95%ATP1B1Protein interaction90%ATF6BProtein interaction89%XBP1Protein interaction89%OPA3Protein interaction82%ABCC8Protein interaction75%
Tissue Expression6 tissues
Ovary
100%
Heart
40%
Lung
38%
Brain
20%
Liver
18%
Bone Marrow
3%
Gene Interaction Network
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WFS1CISD2ATP1B1ATF6BXBP1OPA3ABCC8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O76024
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.64LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.38 [1.16–1.64]
RankingsWhere WFS1 stands among ~20K protein-coding genes
  • #1,438of 20,598
    Most Researched263 Β· top 10%
  • #276of 5,498
    Most Pathogenic Variants233 Β· top 10%
  • #15,840of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedWFS1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Wolfram syndrome and WFS1 gene.
PMID: 20738327
Clin Genet Β· 2011
1.00
2
Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.
PMID: 36764396
Surv Ophthalmol Β· 2023
0.90
3
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.
PMID: 37277527
Sci Rep Β· 2023
0.80
4
Electrophysiology in neuro-ophthalmology.
PMID: 33832688
Handb Clin Neurol Β· 2021
0.72
5
Highly accurate protein structure prediction for the human proteome.
PMID: 34293799
Nature Β· 2021
0.70