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WFS1 Gene

protein-coding   GIFtS: 66
GCID: GC04P006271

Wolfram Syndrome 1 (Wolframin)


(Previous symbols: DFNA6, DFNA14, DFNA38)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Wolfram Syndrome 1 (Wolframin)1 2     WFRS2 5
DFNA141 5     WFS2 5
DFNA381 5     WFSL2 5
DFNA61 5     wolframin2
CTRCT412 5     

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

Export aliases for WFS1 gene to outside databases

Previous GC identifers: GC04P006167 GC04P006366 GC04P006264 GC04P006336 GC04P006389


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (Wolfram syndrome 1 (wolframin)) is a protein-coding gene. Diseases associated with WFS1 include wolfram syndrome-like disease, and dfna6/14/38 nonsyndromic low frequency sensorineural hearing loss. GO annotations related to this gene include ATPase binding and transporter activity.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NC_018915.2  NT_006051.19  
Regulatory elements:
   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 plasmidWFS1 promoter sequence
   Search Chromatin IP Primers for WFS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: WFS1_HUMAN, O76024 (See protein sequence)
Recommended Name: Wolframin  
Size: 890 amino acids; 100292 Da
Secondary accessions: B2R797 D3DVT1 Q8N6I3 Q9UNW6

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

Explore proteomics data for WFS1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn661, Asn746
  • Modification sites at PhosphoSitePlus

  • See WFS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000423337   ENSP00000226760   ENSP00000424103  
    Reactome Protein details: O76024

    WFS1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR026209 Wolframin_fam
     IPR026208 Wolframin

    Graphical View of Domain Structure for InterPro Entry O76024

    ProtoNet protein and cluster: O76024


    WFS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ISS--
    GO:0005516calmodulin binding IEA--
    GO:0031625ubiquitin protein ligase binding ISS--
    GO:0033613activating transcription factor binding ISS--
    GO:0048306calcium-dependent protein binding IEA--
         
    WFS1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Wfs1):
     behavior/neurological  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  integument 
     mortality/aging 

    WFS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Wfs1tm1Yoka for WFS1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WFS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for WFS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for WFS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for WFS1

    miRNA
    Products:
        
    miRTarBase miRNAs that target WFS1:
    hsa-mir-7-5p (MIRT025906), hsa-mir-21-5p (MIRT000164)

    Block miRNA regulation of human, mouse, rat WFS1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidWFS1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for WFS1
    Predesigned siRNA for gene silencing in human, mouse, rat WFS1

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for WFS1 (see all 12)
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    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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    GenScript Custom overexpressing Cell Line Services for WFS1
    Browse ESI BIO Cell Lines and PureStem Progenitors for WFS1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for WFS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    WFS1_HUMAN, O76024: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    mitochondrion2
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    WFS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for WFS1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Unfolded Protein Response
    Unfolded Protein Response0.61
    Activation of Chaperone Genes by XBP1(S)0.59
    Activation of Chaperones by IRE1alpha0.61
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    3Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    4Neuroscience
    Neuroscience
    5Glucose / Energy Metabolism
    Glucose / Energy Metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 Reactome Pathway for WFS1
        XBP1(S) activates chaperone genes


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


    WFS1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WFS1
    Interactions:

        Search GeneGlobe Interaction Network for WFS1

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

    Selected 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): Selected biological process terms (see all 28):    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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for WFS1

    2 Novoseek inferred 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)



    WFS1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for WFS1 gene (2 alternative transcripts): 
    NM_001145853.1  NM_006005.3  

    Unigene Cluster for WFS1:

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

    miRNA
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    Block miRNA regulation of human, mouse, rat WFS1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidWFS1 3' UTR sequence
    Inhib. RNA
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    Clone
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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)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WFS1
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat WFS1
      QuantiFast Probe-based Assays in human, mouse, rat WFS1

    Additional mRNA sequence: 

    AF084481.1 AK312897.1 BC030130.2 BC069213.1 Y18064.1 

    11 DOTS entries:

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

    Selected AceView cDNA sequences (see all 234):

    CR609097 AA935705 BQ920642 BM700424 BQ929015 BU150444 R41501 CA396099 
    BC030130 BF531089 BM668910 BC069213 CD676081 BQ889779 BM845620 BX332794 
    BU194537 CD558180 BM694179 BM563533 BM705988 BM991827 BQ953017 BG700988 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    WFS1 expression in normal human tissues (normalized intensities)      WFS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCCTCCTCT
    WFS1 Expression
    About this image


    WFS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Skeletal Muscle (Muscoskeletal System)
             Extraocular Muscles
     
     Brain (Nervous System)
             Cerebellum
     
     Ovary (Reproductive System)
    WFS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WFS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518602

    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

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    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 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for WFS1 gene from Selected species (see all 14)    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 84.83(n)1
    86.71(a)1
      5 (19.46 cM)5
    223931  NM_011716.21  NP_035846.11 
     369661045 
    chicken
    (Gallus gallus)
    Aves WFS11 Wolfram syndrome 1 (wolframin) 71.61(n)
    81.39(a)
      422857  XM_420803.4  XP_420803.2 
    lizard
    (Anolis carolinensis)
    Reptilia WFS16
    Wolfram syndrome 1 (wolframin)
    76(a)
    1 ↔ 1
    5(80415184-80436313)
    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) 61.67(n)
    59.28(a)
      556580  XM_005157223.1  XP_005157280.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG49173
    wfs11
    glutamate-cysteine ligase3
    wolfram syndrome 11
    24(a)3
    44.2(n)1
    27.42(a)1
      94C13
    426791  NM_001202338.21  NP_001189267.11 


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

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    WFS1_HUMAN, O76024: 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


    Selected SNPs for WFS1 (see all 1534)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289378921,2,,4
    CWolfram syndrome 1 (WFS1)4 pathogenic16283129(+) CGTCCC/TGTGCC 4 P L mis1 ese30--------
    rs715309101,2,,4
    CWolfram syndrome 1 (WFS1)4 --6283503(+) TGACGC/TGGAGC 4 R W mis10--------
    rs289378911,2,,4
    CWolfram syndrome 1 (WFS1)4 pathogenic16283702(+) GGAGGG/TCCACA 4 G V mis1 ese30--------
    rs289378941,2,,4
    CDeafness, autosomal dominant, 6 (DFNA6)4 pathogenic16283714(+) GGTCAC/TGTGGA 4 T M mis1 ese30--------
    rs289378931,2,,4
    CDeafness, autosomal dominant, 6 (DFNA6)4 pathogenic16283764(+) ACAGCA/GCCGAG 4 T A mis1 ese30--------
    rs289378901,2,,4
    CWolfram syndrome 1 (WFS1)4 pathogenic16283789(+) GCTCCC/TGTTCT 4 P L mis1 ese30--------
    rs1413280441,2,,4
    C,FDeafness, autosomal dominant, 6 (DFNA6)4 --6283953(+) TTACCG/ATGGGC 4 /M /V mis11Minor allele frequency- A:0.01NA 4486
    rs359326231,2,,4
    C,FWolfram syndrome 1 (WFS1)4 --6284070(-) CTGGCG/ACAGGC 4 /R /C mis14Minor allele frequency- A:0.00NA EU 5695
    rs289378951,2,,4
    CDeafness, autosomal dominant, 6 (DFNA6)4 pathogenic16284110(+) GGAGGA/GCCGCC 4 D G mis1 ese30--------
    VAR_0683444
    Wolfram-like syndrome autosomal dominant (WFSL)4--see VAR_0683442 G S mis40--------

    HapMap Linkage Disequilibrium report for WFS1 (6271576 - 6304992 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for WFS1 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726993CNV Deletion23290073
    esv2726997CNV Deletion23290073
    esv1010760CNV Deletion20482838
    esv2726996CNV Deletion23290073
    esv2726994CNV Deletion23290073
    esv270491CNV Insertion20981092
    nsv4212CNV Insertion18451855
    dgv640n27CNV Loss19166990
    nsv469711CNV Loss16826518
    nsv878521CNV Loss21882294

    Human Gene Mutation Database (HGMD): WFS1
    Locus Specific Mutation Databases (LSDB): WFS1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606201   
    OMIM disorders: 222300  600965  614296  125853  116400  
    UniProtKB/Swiss-Prot: WFS1_HUMAN, O76024
  • 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. 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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for WFS1 (see all 47):    About MalaCards
    wolfram syndrome-like disease    dfna6/14/38 nonsyndromic low frequency sensorineural hearing loss    nonsyndromic hearing loss and deafness, autosomal dominant    diabetes mellitus, noninsulin-dependent, association with
    dfna 6/14/38 nonsyndromic hearing loss and deafness    wfs1-related disorders    deafness, autosomal dominant 6/14/38    wolfram syndrome
    wolfram-like syndrome, autosomal dominant    chromosome 4p deletion    waterhouse-friderichsen syndrome    wolfram syndrome 2
    optic atrophy    diabetes insipidus    sensorineural hearing loss    insulinoma
    dominant optic atrophy    cataract 4, multiple types    diabetes mellitus    mood disorder

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

    WFS1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred 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
    GeneReviews: WFS1
    Genetic Association Database (GAD): WFS1
    Human Genome Epidemiology (HuGE) Navigator: WFS1 (63 documents)

    Export disorders for WFS1 gene to outside databases

    (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)
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    PubMed articles for WFS1 gene, integrated from 10 sources (see all 193):
    (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. (J. Affect. Disord. 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. (Nat. Genet. 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. (Int. J. Neuropsychopharmacol. 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. (Am. J. Med. Genet. A 2008)
    5. Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations. (PubMed id 18040659)1, 4, 9 Franks P.W....Sandhu M.S. (Diabetologia 2008)
    6. 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. (Hum. Mutat. 2005)
    7. Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees. (PubMed id 11161832)1, 2, 9 Gomez-Zaera M....Nunes V. (Mol. Genet. Metab. 2001)
    8. Autosomal dominant optic neuropathy and sensorineural hearing loss associated with a novel mutation of WFS1. (PubMed id 20069065)1, 2, 9 Hogewind B.F.... Cremers C.W. (Mol. Vis. 2010)
    9. A common genetic variant in WFS1 determines impaired glucagon-like peptide-1-induced insulin secretion. (PubMed id 19330314)1, 4, 9 SchAofer S.A....Fritsche A. (Diabetologia 2009)
    10. Impact of polymorphisms in WFS1 on prediabetic phenotypes in a population-based sample of middle-aged people with normal and abnormal glucose regulation. (PubMed id 18568334)1, 4, 9 SparsA...Hansen T. (Diabetologia 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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/books/NBK1116/?term=WFS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for WFS1 gene:
    Search GeneIP for patents involving WFS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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