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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

WFS1 Gene

protein-coding   GIFtS: 64
GCID: GC04P006271

Wolfram syndrome 1 (wolframin)


(Previous symbols: DFNA6, DFNA14, DFNA38)
 Explore 31 diseases affiliated with
WFS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for WFS1    

Aliases
for WFS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Wolfram Syndrome 1 (Wolframin)1 2     WFRS2 5
WFS1 2 5     DIDMOAD1
DFNA141 5     WFSL2
DFNA381 5     Wolframin1
DFNA61 5     

External Ids:    HGNC: 127621   Entrez Gene: 74662   Ensembl: ENSG000001095017   OMIM: 6062015   UniProtKB: O760243   

Export aliases for WFS1 gene to outside databases

Previous GC identifers: GC04P006167 GC04P006366 GC04P006264 GC04P006336 GC04P006389


Summaries
for WFS1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for WFS1:
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)

UniProtKB/Swiss-Prot: WFS1_HUMAN, O76024
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

Gene Wiki entry for WFS1


Genomic Views
for WFS1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_006051.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the WFS1 gene promoter:
         NRSF form 1   MyoD   NRSF form 2   GATA-1   Arnt   Gfi-1   PPAR-gamma1   PPAR-gamma2   ZID   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: WFS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for WFS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat WFS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.1   Ensembl cytogenetic band:  4p16.1   HGNC cytogenetic band: 4p16.1

WFS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WFS1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P006271:  view genomic region     (about GC identifiers)

Start:
 6,271,576 bp from pter      End:
 6,304,992 bp from pter
Size:
 33,417 bases      Orientation:
 plus strand

Proteins
for WFS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: WFS1_HUMAN, O76024 (See protein sequence)
Recommended Name: Wolframin  
Size: 890 amino acids; 100292 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: B2R797 D3DVT1 Q8N6I3 Q9UNW6

Explore the universe of human proteins at neXtProt for WFS1: NX_O76024

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O76024

    • WFS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001139325.1  NP_005996.2  

    ENSEMBL proteins: 
     ENSP00000423337   ENSP00000226760   ENSP00000424103  
    Reactome Protein details: O76024
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate (see all 2): WFS1
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    Novus Biologicals WFS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for WFS1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ISS--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0030176integral to endoplasmic reticulum membrane IDA11181571
    GO:0030425dendrite ISS11181571


    WFS1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for WFS1

    Protein Domains /
    Families
    for WFS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    WFS1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR026209 Wolframin_fam
     IPR026208 Wolframin

    Graphical View of Domain Structure for InterPro Entry O76024

    ProtoNet protein and cluster: O76024


    Function
    for WFS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: WFS1_HUMAN, O76024
    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 entry for WFS1:
    putative transmembrane protein,100.3kDa,highly expressed in pancreatic islets,with loss of function by mutations in
    Wolfram syndrome

    miRNA
    Products:            		miRTarBase miRNAs that target WFS1:
    hsa-mir-21 (MIRT000164)

    OriGene 3'-UTR Clone (see all 2): WFS1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WFS1
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate WFS1 (see all 25):
    hsa-miR-3607-3p hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmid: WFS1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for WFS1 (see all 7)
    OriGene shRNA RFP: WFS1
    OriGene siRNA: WFS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WFS1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for WFS1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WFS1 (see all 4)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): WFS1 (NM_006005)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for WFS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WFS1 

    Cell Line
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    Search LifeMap BioReagents cell lines for WFS1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WFS1

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ISS--
    GO:0031625ubiquitin protein ligase binding ISS--
    GO:0033613activating transcription factor binding ISS--
    GO:0051117ATPase binding IPI17947299


    WFS1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Wfs1tm1Yoka for WFS1
         7 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Wfs1):
     behavior/neurological  endocrine/exocrine gland  growth/size  homeostasis/metabolism  integument 
     mortality/aging  no phenotypic analysis 

    WFS1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for WFS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of Chaperone Genes by XBP1(S)
    		Activation of Chaperone Genes by XBP1(S)1.00
    		Unfolded Protein Response0.71
    		Activation of Chaperones by IRE1alpha0.94
    2Neuroscience
    		Neuroscience1.00
    3Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    4Ca, cAMP and Lipid Signaling
    		Ca, cAMP and Lipid Signaling1.00
    5Expression of WFS1
    		Expression of WFS11.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for WFS1
        Ca, cAMP and Lipid Signaling
    Neuroscience
    Glucose / Energy Metabolism

    5        Reactome Pathways for WFS1
        Activation of Chaperone Genes by XBP1(S)
    Expression of WFS1
    Metabolism of proteins
    Activation of Chaperones by IRE1alpha
    Unfolded Protein Response


    1         Kegg Pathway  (Kegg details for WFS1):
        Protein processing in endoplasmic reticulum


    WFS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for WFS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/12 Interacting proteins for WFS1 (O760242, 3 ENSP000002267604) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8262187 I2D: score=2 
    SMURF1Q9HCE73, ENSP000003546214I2D: score=2 STRING: ENSP00000354621
    ATF6P188503, ENSP000003569194I2D: score=1 STRING: ENSP00000356919
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    SYVN1Q86TM63, ENSP000003663954I2D: score=1 STRING: ENSP00000366395
    About this table

    Gene Ontology (GO): 5/27 biological process terms (GO ID links to tree view) (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001822kidney development IMP9817917
    GO:0003091renal water homeostasis IMP9817917
    GO:0006983ER overload response TAS17947299
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0007601visual perception IMP9771706


    WFS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for WFS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    WFS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for WFS1
    2 Novoseek chemical compound relationships for WFS1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tungsten 95.8 115 15503287 (4), 11161832 (3), 16321270 (3), 19523951 (3) (see all 63)
    calcium 0 7 15994758 (1), 17846994 (1), 15277431 (1), 17947299 (1) (see all 6)

    Search CenterWatch for drugs/clinical trials and news about WFS1 

    Transcripts
    for WFS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for WFS1 gene (2 alternative transcripts): 
    NM_001145853.1  NM_006005.3  

    Unigene Clusters for WFS1:

    Wolfram syndrome 1 (wolframin)
    Hs.518602  [show with all ESTs], Hs.727283  [show with all ESTs]
    Unigene Representative Sequences: BC069213, AK295986
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000503569 ENST00000506588 ENST00000226760(uc003giy.3 uc003gix.3)
    ENST00000507765(uc003giz.3) ENST00000506362 ENST00000513395

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): WFS1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat WFS1
    8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate WFS1 (see all 25):
    hsa-miR-3607-3p hsa-miR-302d hsa-miR-520e hsa-miR-520f hsa-miR-106a hsa-miR-302e hsa-miR-520a-3p hsa-miR-372
    SwitchGear 3'UTR luciferase reporter plasmid: WFS1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for WFS1 (see all 7)
    OriGene shRNA RFP: WFS1
    OriGene siRNA: WFS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat WFS1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for WFS1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for WFS1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): WFS1 (NM_006005)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat WFS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WFS1

    Additional cDNA sequence: AK295986.1 

    13 DOTS entries:

    DT.115030  DT.97845186  DT.100748985  DT.91895762  DT.100842729  DT.91744381  DT.100748987  DT.97785069 
    DT.100641928  DT.100802954  DT.100844643  DT.75103227  DT.97845188 

    24/234 AceView cDNA sequences (see all 234):

    BM668910 BF531089 CA396099 BC030130 CR609097 BC069213 AA935705 BQ920642 
    BM700424 R41501 BQ929015 BU150444 NM_006005 Y18064 F09882 BU846431 
    BM046081 AA323685 CO249682 CD244315 CO247777 BM999800 BU622859 BM682001 

    GeneLoc Exon Structure


    Expression
    for WFS1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    WFS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCCTCCTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    WFS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleExtraocular MusclesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor Z1 (Embryonic Progenitor Cell)

    See WFS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for WFS1

    SOURCE GeneReport for Unigene clusters: Hs.518602 Hs.727283

    UniProtKB/Swiss-Prot: WFS1_HUMAN, O76024
    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

        SABiosciences Custom PCR Arrays for WFS1
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat WFS1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WFS1

    Orthologs
    for WFS1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for WFS1 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Wfs11 , 5 Wolfram syndrome 1 homolog (human)1, 5 85.16(n)1
    87.49(a)1    		   5 (19.46 cM)5
    223931  NM_011716.21  NP_035846.11 
     369661045 
    chicken
    (Gallus gallus)    		 Aves WFS11 Wolfram syndrome 1 (wolframin) 70.37(n)
    79.38(a)    		   422857  XM_420803.3  XP_420803.2 
    lizard
    (Anolis carolinensis)    		 Reptilia WFS16
    		 --
    		 76(a)
    		 1 ↔ 1
    		 5(80415184-80424759)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.39952 Xenopus laevis transcribed sequence with weak similarity more 74.08(n)    BJ071054.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii wfs1b1 Wolfram syndrome 1b (wolframin) 60.29(n)
    58.32(a)    		   556580  XM_679418.3  XP_684510.2 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG49173 glutamate-cysteine ligase 24(a)   94C1   --


    ENSEMBL Gene Tree for WFS1 (if available)
    TreeFam Gene Tree for WFS1 (if available) 

    Paralogs
    for WFS1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for WFS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: WFS1_HUMAN, O76024
    Polymorphism: 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


    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for WFS1
         2 CNVs: 2067 53398
    Human Gene Mutation Database (HGMD): WFS1

    Locus Specific Mutation Databases (LSDB): WFS1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing WFS1
    DNA2.0 Custom Variant and Variant Library Synthesis for WFS1

    Disorders / Diseases
    for WFS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    WFS1 for disorders           About GeneDecksing

    OMIM gene information: 606201   
    OMIM disorders: 222300  600965  125853  
    UniProtKB/Swiss-Prot: WFS1_HUMAN, O76024
  • Defects in WFS1 are the cause of Wolfram syndrome type 1 (WFS1) [MIM:222300]. A rare autosomal recessive
    • disorder characterized by juvenile diabetes mellitus, diabetes insipidus, optic atrophy, deafness and various
    neurological symptoms
  • Defects in WFS1 are the cause of deafness autosomal dominant type 6 (DFNA6) [MIM:600965]; also called
    • non-syndromic sensorineural deafness autosomal dominant type 14 (DFNA14) or non-syndromic sensorineural deafness
    autosomal dominant type 38 (DFNA38). DFNA6 is a form of 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
  • Defects in WFS1 are the cause of 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

    20/31 diseases for WFS1 (see all 31):    About MalaCards
    wolfram syndrome    deafness, autosomal dominant 6/14/38    optic atrophy    diabetes mellitus
    wolfram-like syndrome, autosomal dominant    diabetes insipidus    diabetes mellitus, noninsulin-dependent    diabetes mellitus, noninsulin-dependent, association with
    waterhouse-friderichsen syndrome    insulinoma    wolf-hirschhorn syndrome    hearing loss
    sensorineural hearing loss    wolfram syndrome 2    bipolar affective disorder    mood disorder
    bipolar disorder    peripheral neuropathy    gestational diabetes    neurodegenerative disease

    5 diseases from the University of Copenhagen DISEASES database for WFS1:
    Wolfram syndrome     Optic atrophy     Diabetes insipidus     Sensorineural hearing loss
    Diabetes mellitus

    10/16 Novoseek disease relationships for WFS1 gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wolfram syndrome 99 114 15503287 (4), 16321270 (3), 14676474 (3), 19523951 (3) (see all 62)
    dfna6 97.1 17 18688868 (2), 9485112 (2), 16353398 (2), 16550584 (2) (see all 10)
    optic atrophy 93.7 22 18544103 (3), 16648378 (1), 18688868 (1), 10679252 (1) (see all 16)
    hearing loss sensorineural 75.6 14 16408729 (2), 16648378 (1), 18688868 (1), 9485112 (1) (see all 12)
    diabetes mellitus 70.4 31 18544103 (5), 19523951 (2), 12955714 (2), 18688868 (1) (see all 16)
    neurodegenerative diseases 64.3 6 18688868 (1), 9771706 (1), 18551525 (1), 10521293 (1) (see all 5)
    diabetes mellitus insulin-dependent 55.5 6 18806274 (1), 9771706 (1), 19258739 (1), 10521293 (1) (see all 5)
    psychiatric disorder 51.3 10 15852062 (3), 12605098 (3), 11317350 (1), 15234338 (1) (see all 5)
    hearing impaired 47.4 3 16648378 (1), 14676474 (1)
    bipolar disorder 46 16 12565131 (5), 15234338 (2), 15473915 (2), 10760554 (1) (see all 5)

    Genatlas disease: WFS1
    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

    GeneTests: WFS1
    WFS1-Related Disorders

    Genetic Association Database (GAD): WFS1
    Human Genome Epidemiology (HuGE) Navigator: WFS1 (63 documents)

    Export disorders for WFS1 gene to outside databases

    Publications
    for WFS1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for WFS1 gene, integrated from 9 sources (see all 181):
    (articles sorted by number of sources associating them with WFS1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder. (PubMed id 10760554)1, 2, 4, 9 Ohtsuki T.... Arinami T. (2000)
    2. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram Syndrome). (PubMed id 9771706)1, 2, 3, 9 Inoue H.... Permutt M.A. (1998)
    3. Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders. (PubMed id 15473915)1, 4, 9 Koido K....Vasar E. (2005)
    4. Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1. (PubMed id 18688868)1, 2, 9 Hildebrand M.S....Smith R.J. (2008)
    5. Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene. (PubMed id 15605410)1, 2, 9 Giuliano F.... Paquis-Flucklinger V. (2005)
    6. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. (PubMed id 11161832)1, 2, 9 Gomez-Zaera M....Nunes V. (2001)
    7. Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1. (PubMed id 20069065)1, 2, 9 Hogewind B.F....Cremers C.W. (2010)
    8. WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum. (PubMed id 16989814)1, 2, 9 Takei D.... Oka Y. (2006)
    9. Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder. (PubMed id 15234338)1, 4, 9 Kawamoto T....Mikuni M. (2004)
    10. Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations. (PubMed id 11916957)1, 4, 9 Minton J.A....Frayling T.M. (2002)

    External Searches for WFS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    Genome Databases showing WFS1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 7466 HGNC: 12762 AceView: WFS1 Ensembl:ENSG00000109501 euGenes: HUgn7466
    ECgene: WFS1 Kegg: 7466 H-InvDB: WFS1

    Other Databases showing WFS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing WFS1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for WFS1 Pharmacogenomics, SNPs, Pathways
    WFS1 gene mutation and polymorphism databasehttp://www.khri.med.umich.edu/research/lesperance_lab/low_freq.php
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/WFS1

    Intellectual Property
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    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for WFS1 gene:
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