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Aliases for WFS1 Gene

Aliases for WFS1 Gene

  • Wolframin ER Transmembrane Glycoprotein 2 3 5
  • Wolfram Syndrome 1 (Wolframin) 2 3
  • Wolframin 3
  • CTRCT41 3
  • WFRS 3
  • WFSL 3
  • WFS 3

External Ids for WFS1 Gene

Previous HGNC Symbols for WFS1 Gene

  • DFNA6
  • DFNA14
  • DFNA38

Previous GeneCards Identifiers for WFS1 Gene

  • GC04P006167
  • GC04P006366
  • GC04P006264
  • GC04P006336
  • GC04P006389

Summaries for WFS1 Gene

Entrez Gene Summary for WFS1 Gene

  • 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]

GeneCards Summary for WFS1 Gene

WFS1 (Wolframin ER Transmembrane Glycoprotein) is a Protein Coding gene. Diseases associated with WFS1 include Wolfram-Like Syndrome, Autosomal Dominant and Cataract 41. Among its related pathways are Protein processing in endoplasmic reticulum and Ca, cAMP and Lipid Signaling. Gene Ontology (GO) annotations related to this gene include transporter activity and calmodulin binding.

UniProtKB/Swiss-Prot for WFS1 Gene

  • Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store.

Gene Wiki entry for WFS1 Gene

Additional gene information for WFS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for WFS1 Gene

Genomics for WFS1 Gene

GeneHancer (GH) Regulatory Elements for WFS1 Gene

Promoters and enhancers for WFS1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J006268 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 680.4 +6.4 6381 14.5 PKNOX1 CLOCK FOXA2 ARID4B SIN3A DMAP1 SLC30A9 FOS SP3 SP5 WFS1 PPP2R2C JAKMIP1 CRMP1 PIR36021
GH04J006267 Enhancer 0.7 Ensembl 650.7 -1.8 -1848 0.4 ELF3 ZNF792 SAP130 ZFP64 MAX CEBPG GATA3 PRDM10 GATAD2A HLF WFS1 GC04P006244
GH04J006297 Enhancer 0.7 VISTA dbSUPER 25.4 +28.3 28264 2.2 ZNF133 WFS1 PIR36021
GH04J006292 Enhancer 0.4 dbSUPER 39.2 +22.8 22795 1.1 EGR1 NR2F2 WFS1 PIR36021
GH04J006290 Enhancer 0.4 dbSUPER 38.9 +21.2 21150 1.6 TFAP4 CEBPB WFS1 PIR36021
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around WFS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the WFS1 gene promoter:
  • MyoD
  • Gfi-1
  • Arnt
  • GATA-1
  • PPAR-gamma1
  • PPAR-gamma2
  • Pax-4a
  • ZID
  • NRSF form 2
  • NRSF form 1

Genomic Locations for WFS1 Gene

Genomic Locations for WFS1 Gene
33,417 bases
Plus strand
33,417 bases
Plus strand

Genomic View for WFS1 Gene

Genes around WFS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
WFS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for WFS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for WFS1 Gene

Proteins for WFS1 Gene

  • Protein details for WFS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B2R797
    • D3DVT1
    • Q8N6I3
    • Q9UNW6

    Protein attributes for WFS1 Gene

    890 amino acids
    Molecular mass:
    100292 Da
    Quaternary structure:
    No Data Available

neXtProt entry for WFS1 Gene

Post-translational modifications for WFS1 Gene

  • Glycosylation at isoforms=746 and isoforms=661
  • Modification sites at PhosphoSitePlus

Other Protein References for WFS1 Gene

No data available for DME Specific Peptides for WFS1 Gene

Domains & Families for WFS1 Gene

Gene Families for WFS1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for WFS1 Gene

Suggested Antigen Peptide Sequences for WFS1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with WFS1: view

No data available for UniProtKB/Swiss-Prot for WFS1 Gene

Function for WFS1 Gene

Molecular function for WFS1 Gene

UniProtKB/Swiss-Prot Function:
Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store.
GENATLAS Biochemistry:
putative transmembrane protein,100.3kDa,highly expressed in pancreatic islets,with loss of function by mutations in Wolfram syndrome

Phenotypes From GWAS Catalog for WFS1 Gene

Gene Ontology (GO) - Molecular Function for WFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
GO:0005516 calmodulin binding IEA --
GO:0031625 ubiquitin protein ligase binding IDA 20160352
GO:0033613 activating transcription factor binding IEA --
GO:0048306 calcium-dependent protein binding IEA --
genes like me logo Genes that share ontologies with WFS1: view
genes like me logo Genes that share phenotypes with WFS1: view

Human Phenotype Ontology for WFS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for WFS1 Gene

MGI Knock Outs for WFS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for WFS1

CRISPR Products

miRNA for WFS1 Gene

miRTarBase miRNAs that target WFS1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WFS1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for WFS1 Gene

Localization for WFS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for WFS1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for WFS1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
mitochondrion 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for WFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IEA --
GO:0005783 endoplasmic reticulum IEA,ISS --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005789 endoplasmic reticulum membrane NAS,TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with WFS1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for WFS1 Gene

Pathways & Interactions for WFS1 Gene

genes like me logo Genes that share pathways with WFS1: view

Pathways by source for WFS1 Gene

Gene Ontology (GO) - Biological Process for WFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 20160352
GO:0001822 kidney development IMP 9817917
GO:0003091 renal water homeostasis IMP 9817917
GO:0006983 ER overload response TAS 17947299
GO:0007601 visual perception IMP 9771706
genes like me logo Genes that share ontologies with WFS1: view

No data available for SIGNOR curated interactions for WFS1 Gene

Drugs & Compounds for WFS1 Gene

(1) Drugs for WFS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for WFS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with WFS1: view

Transcripts for WFS1 Gene

mRNA/cDNA for WFS1 Gene

Unigene Clusters for WFS1 Gene

Wolfram syndrome 1 (wolframin):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for WFS1

Alternative Splicing Database (ASD) splice patterns (SP) for WFS1 Gene

No ASD Table

Relevant External Links for WFS1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for WFS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for WFS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for WFS1 Gene

This gene is overexpressed in Ovary (10.7) and Prostate (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for WFS1 Gene

Protein tissue co-expression partners for WFS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of WFS1 Gene:


SOURCE GeneReport for Unigene cluster for WFS1 Gene:


mRNA Expression by UniProt/SwissProt for WFS1 Gene:

Tissue specificity: Highly expressed in heart followed by brain, placenta, lung and pancreas. Weakly expressed in liver, kidney and skeletal muscle. Also expressed in islet and beta-cell insulinoma cell line.

Evidence on tissue expression from TISSUES for WFS1 Gene

  • Nervous system(4.8)
  • Pancreas(2.8)
  • Eye(2.2)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for WFS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • hypothalamus
  • inner ear
  • middle ear
  • mouth
  • neck
  • outer ear
  • pharynx
  • pituitary gland
  • thyroid
  • esophagus
  • heart
  • heart valve
  • lung
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • toe
  • upper limb
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with WFS1: view

No data available for mRNA differential expression in normal tissues for WFS1 Gene

Orthologs for WFS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for WFS1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia WFS1 33
  • 98.74 (n)
(Bos Taurus)
Mammalia WFS1 34 33
  • 87.09 (n)
(Canis familiaris)
Mammalia WFS1 34 33
  • 85.56 (n)
(Rattus norvegicus)
Mammalia Wfs1 33
  • 84.87 (n)
(Mus musculus)
Mammalia Wfs1 16 34 33
  • 84.83 (n)
(Monodelphis domestica)
Mammalia WFS1 34
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia WFS1 34
  • 45 (a)
(Gallus gallus)
Aves WFS1 34 33
  • 71.61 (n)
(Anolis carolinensis)
Reptilia WFS1 34
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia wfs1 33
  • 71.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.3995 33
(Danio rerio)
Actinopterygii wfs1b 34 33
  • 61.67 (n)
wfs1a 34
  • 45 (a)
fruit fly
(Drosophila melanogaster)
Insecta wfs1 34 33
  • 44.2 (n)
CG4917 35
  • 24 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004409 33
  • 42.56 (n)
Species where no ortholog for WFS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for WFS1 Gene

Gene Tree for WFS1 (if available)
Gene Tree for WFS1 (if available)
Evolutionary constrained regions (ECRs) for WFS1: view image

Paralogs for WFS1 Gene

No data available for Paralogs for WFS1 Gene

Variants for WFS1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for WFS1 Gene

Arg-456-His, Arg-611-His and Ile-720-Val polymorphisms are in tight linkage disequilibrium with one another and associated with type 1 diabetes in Japanese.

Sequence variations from dbSNP and Humsavar for WFS1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs10010131 association, conflicting-interpretations-of-pathogenicity, benign, Diabetes mellitus, noninsulin-dependent, association with, not specified, WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, Dominant 6,291,188(+) A/G intron_variant
rs1005714777 uncertain-significance, Monogenic diabetes 6,291,314(+) A/G coding_sequence_variant, missense_variant
rs1007201071 uncertain-significance, WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, Dominant 6,302,974(+) C/T 3_prime_UTR_variant
rs1033912854 uncertain-significance, Nonsyndromic Hearing Loss, Dominant, WFS1-Related Spectrum Disorders 6,269,891(+) A/G 5_prime_UTR_variant, intron_variant
rs1042760217 uncertain-significance, WFS1-Related Spectrum Disorders, Nonsyndromic Hearing Loss, Dominant 6,269,965(+) C/G/T 5_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for WFS1 Gene

Variant ID Type Subtype PubMed ID
dgv640n27 CNV loss 19166990
dgv8933n54 CNV loss 21841781
esv1010760 CNV deletion 20482838
esv2726993 CNV deletion 23290073
esv2726994 CNV deletion 23290073
esv2726996 CNV deletion 23290073
esv2726997 CNV deletion 23290073
esv3306214 CNV mobile element insertion 20981092
esv3409014 CNV insertion 20981092
esv34196 OTHER inversion 12058347
esv3563322 CNV deletion 23714750
esv3563323 CNV deletion 23714750
nsv1074681 CNV deletion 25765185
nsv1123746 CNV deletion 24896259
nsv1145021 CNV deletion 24896259
nsv4212 CNV insertion 18451855
nsv469711 CNV loss 16826518
nsv593495 CNV loss 21841781
nsv593498 CNV loss 21841781

Variation tolerance for WFS1 Gene

Residual Variation Intolerance Score: 98.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.84; 96.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for WFS1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

Disorders for WFS1 Gene

MalaCards: The human disease database

(36) MalaCards diseases for WFS1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search WFS1 in MalaCards View complete list of genes associated with diseases


  • Wolfram syndrome 1 (WFS1) [MIM:222300]: A rare disorder characterized by juvenile-onset insulin-dependent diabetes mellitus with optic atrophy. Other manifestations include diabetes insipidus, sensorineural deafness, dementia, psychiatric illnesses. {ECO:0000269 PubMed:10521293, ECO:0000269 PubMed:11161832, ECO:0000269 PubMed:11295831, ECO:0000269 PubMed:15605410, ECO:0000269 PubMed:21538838, ECO:0000269 PubMed:22226368, ECO:0000269 PubMed:9771706, ECO:0000269 PubMed:9817917}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 6 (DFNA6) [MIM:600965]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA6 is a low-frequency hearing loss in which frequencies of 2000 Hz and below are predominantly affected. Many patients have tinnitus, but there are otherwise no associated features such as vertigo. Because high-frequency hearing is generally preserved, patients retain excellent understanding of speech, although presbycusis or noise exposure may cause high-frequency loss later in life. DFNA6 worsens over time without progressing to profound deafness. {ECO:0000269 PubMed:11709537, ECO:0000269 PubMed:11709538, ECO:0000269 PubMed:12181639, ECO:0000269 PubMed:17517145, ECO:0000269 PubMed:18518985, ECO:0000269 PubMed:18688868, ECO:0000269 PubMed:21356526, ECO:0000269 PubMed:24462758, ECO:0000269 PubMed:25388789}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Wolfram-like syndrome autosomal dominant (WFSL) [MIM:614296]: A disease characterized by the clinical triad of congenital progressive hearing impairment, diabetes mellitus, and optic atrophy. The hearing impairment, which is usually diagnosed in the first decade of life, is relatively constant and alters mainly low- and middle-frequency ranges. {ECO:0000269 PubMed:16648378, ECO:0000269 PubMed:20069065, ECO:0000269 PubMed:21538838}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cataract 41 (CTRCT41) [MIM:116400]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. {ECO:0000269 PubMed:23531866}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for WFS1 Gene

Wolfram syndrome,autosomal recessive,progressive neurodegenerative disorder,diabetes insipidus,non autoimmune insulin dependent diabetes mellitus,(optic atrophy,neurosensory deafness,renal-tract abnormalities,late ataxia and myoclonus),peripheral neuropathy psychiatric illness,Dueto-vasopressin neuron loss in the supraoptic nucleus and defect in precursor processing

Additional Disease Information for WFS1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with WFS1: view

Publications for WFS1 Gene

  1. WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder. (PMID: 10760554) Ohtsuki T … Arinami T (Journal of affective disorders 2000) 3 4 22 44 58
  2. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). (PMID: 9771706) Inoue H … Permutt MA (Nature genetics 1998) 2 3 4 22 58
  3. Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic beta-cell function. (PMID: 19833888) Simonis-Bik AM … 't Hart LM (Diabetes 2010) 3 22 44 58
  4. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. (PMID: 20069065) Hogewind BF … Cremers CW (Molecular vision 2010) 3 4 22 58
  5. A common genetic variant in WFS1 determines impaired glucagon-like peptide-1-induced insulin secretion. (PMID: 19330314) Schäfer SA … Fritsche A (Diabetologia 2009) 3 22 44 58

Products for WFS1 Gene

Sources for WFS1 Gene

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