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DFNB31 Gene

protein-coding   GIFtS: 56
GCID: GC09M117164

Deafness, Autosomal Recessive 31

  See related diseases
at  

(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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Aliases
Deafness, Autosomal Recessive 311 2     USH2D2 5
WHRN2 3 5     KIAA15263 5
whirlin1 2     PDZD7B2
Autosomal Recessive Deafness Type 31 Protein2 3     WI2
CIP982 5     CASK-Interacting Protein CIP982

External Ids:    HGNC: 163611   Entrez Gene: 258612   Ensembl: ENSG000000953977   OMIM: 6079285   UniProtKB: Q9P2023   

Export aliases for DFNB31 gene to outside databases

Previous GC identifers: GC09U990192 GC09M112541 GC09M114243 GC09M116204 GC09M086769


(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 DFNB31 Gene:
This gene is thought to function in the organization and stabilization of sterocilia elongation and actin
cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated
with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in
multiple transcript variants encoding different isoforms.(provided by RefSeq, Mar 2010)

GeneCards Summary for DFNB31 Gene:
DFNB31 (deafness, autosomal recessive 31) is a protein-coding gene. Diseases associated with DFNB31 include deafness, autosomal recessive 31, and pyeloureteritis cystica. An important paralog of this gene is PDZD7.

UniProtKB/Swiss-Prot: WHRN_HUMAN, Q9P202
Function: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti
in the inner ear (By similarity)

Gene Wiki entry for DFNB31 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_000009.12  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DFNB31 gene promoter:
         Max1   POU2F1   POU2F1a   CUTL1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDFNB31 promoter sequence
   Search Chromatin IP Primers for DFNB31

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DFNB31


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

Entrez Gene cytogenetic band: 9q32   Ensembl cytogenetic band:  9q32   HGNC cytogenetic band: 9q32

DFNB31 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DFNB31 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M117164:  view genomic region     (about GC identifiers)

Start:
117,164,360 bp from pter      End:
117,267,736 bp from pter
Size:
103,377 bases      Orientation:
minus 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: WHRN_HUMAN, Q9P202 (See protein sequence)
Recommended Name: Whirlin  
Size: 907 amino acids; 96586 Da
Subunit: Forms homooligomers. Binds CASK, MPP1/p55 and MYO15A via the C-terminal PDZ domain. Binding to MYO15A is
necessary for localization of DFNB31/WHRN to stereocilia tips. Interacts with USH2A, GPR98/MASS1 and LRRC4C/NGL1.
Interacts with RPGR. Interacts with EPS8
Sequence caution: Sequence=BAA96050.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for DFNB31:
1UEZ (3D)        1UF1 (3D)        1UFX (3D)    
Secondary accessions: A5PKU1 A5PKZ9 Q5TAU9 Q5TAV0 Q5TAV1 Q5TAV2 Q96MZ9 Q9H9F4 Q9UFZ3
Alternative splicing: 4 isoforms:  Q9P202-1   Q9P202-2   Q9P202-3   Q9P202-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DFNB31: NX_Q9P202

Explore proteomics data for DFNB31 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DFNB31 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001077354.2  NP_001166896.1  NP_056219.3  

    ENSEMBL proteins: 
     ENSP00000265134   ENSP00000363172   ENSP00000354623   ENSP00000363170  

    DFNB31 Human Recombinant Protein Products:

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    Novus Biologicals DFNB31 Protein
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR001478 PDZ

    Graphical View of Domain Structure for InterPro Entry Q9P202

    ProtoNet protein and cluster: Q9P202

    UniProtKB/Swiss-Prot: WHRN_HUMAN, Q9P202
    Similarity: Contains 3 PDZ (DHR) domains


    DFNB31 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: WHRN_HUMAN, Q9P202
    Function: Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti
    in the inner ear (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17584769
         
    DFNB31 for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 3 alleles(MGI details for Whrn) (see all 16):
     adipose tissue  behavior/neurological  cardiovascular system  endocrine/exocrine gland  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  nervous system  pigmentation  renal/urinary system  reproductive system 

    DFNB31 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Whrntm1Tili for DFNB31

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DFNB31
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DFNB31

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DFNB31
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DFNB31

    miRNA
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    miRTarBase miRNAs that target DFNB31:
    hsa-mir-335-5p (MIRT018982)

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    Selected qRT-PCR Assays for microRNAs that regulate DFNB31 (see all 9):
    hsa-miR-99a* hsa-miR-330-5p hsa-miR-99b* hsa-miR-410 hsa-miR-4314 hsa-miR-320e hsa-miR-326 hsa-miR-2276
    SwitchGear 3'UTR luciferase reporter plasmidDFNB31 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DFNB31

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    GenScript: all cDNA clones in your preferred vector (see all 3): DFNB31 (NM_015404)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DFNB31
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DFNB31

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFNB31


    (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
    WHRN_HUMAN, Q9P202: Cytoplasm (By similarity). Cell projection, stereocilium (By similarity). Cell projection,
    growth cone (By similarity). Note=Detected at the level of stereocilia in inner outer hair cells of the cochlea
    and vestibule. Colocalizes with the growing ends of actin filaments (By similarity). Colocalizes with MPP1 in the
    retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting
    cilium (CC)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    nucleus3
    cytoskeleton2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002142stereocilia ankle link complex IEA--
    GO:0005737cytoplasm IDA16434480
    GO:0005884actin filament IEA--
    GO:0005929cilium IEA--
    GO:0030426growth cone IEA--

    DFNB31 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DFNB31
    Interactions:

        Search GeneGlobe Interaction Network for DFNB31

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DFNB31 (Q9P2022, 3 ENSP000003546234) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYO15AQ9UKN73, ENSP000002058904I2D: score=6 STRING: ENSP00000205890
    LRRC4CQ9HCJ23, ENSP000002781984I2D: score=5 STRING: ENSP00000278198
    LRP4O750963, ENSP000003678884I2D: score=2 STRING: ENSP00000367888
    MYO7AQ134023, ENSP000003863314I2D: score=1 STRING: ENSP00000386331
    CASKO149362, ENSP000003674084MINT-8305473 STRING: ENSP00000367408
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001895retina homeostasis IMP17171570
    GO:0007605sensory perception of sound IMP17171570
    GO:0050953sensory perception of light stimulus IMP17171570
    GO:0060122inner ear receptor stereocilium organization ISS--

    DFNB31 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 DFNB31 (WHRN)

    2 Novoseek inferred chemical compound relationships for DFNB31 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanylate 53.4 3 12641734 (1), 16829577 (1), 19853587 (1)
    serine 15 2 12641734 (2)



    DFNB31 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 DFNB31 gene (3 alternative transcripts): 
    NM_001083885.2  NM_001173425.1  NM_015404.3  

    Unigene Cluster for DFNB31:

    Deafness, autosomal recessive 31
    Hs.93836  [show with all ESTs]
    Unigene Representative Sequence: BC014524
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265134(uc004biy.4) ENST00000374059(uc004bix.3) ENST00000362057(uc004biz.4 uc004bja.4)
    ENST00000374057(uc004bjb.3) ENST00000480518
    miRNA
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    Block miRNA regulation of human, mouse, rat DFNB31 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DFNB31 (see all 9):
    hsa-miR-99a* hsa-miR-330-5p hsa-miR-99b* hsa-miR-410 hsa-miR-4314 hsa-miR-320e hsa-miR-326 hsa-miR-2276
    SwitchGear 3'UTR luciferase reporter plasmidDFNB31 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for DFNB31
    Predesigned siRNA for gene silencing in human, mouse, rat DFNB31
    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 3): DFNB31 (NM_015404)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DFNB31
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DFNB31
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for DFNB31
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DFNB31
      QuantiTect SYBR Green Assays in human, mouse, rat DFNB31
      QuantiFast Probe-based Assays in human, mouse, rat DFNB31

    Additional mRNA sequence: 

    AB040959.1 AK022854.1 AK056190.1 AL110228.1 BC011918.2 BC014524.1 BC136416.1 BC142614.1 
    BC142684.1 

    12 DOTS entries:

    DT.444082  DT.91744357  DT.121168256  DT.100744759  DT.91741714  DT.100744760  DT.121168276  DT.121168280 
    DT.91741712  DT.91741713  DT.95232238  DT.121168282 

    Selected AceView cDNA sequences (see all 96):

    AW246635 BM677917 AA378757 BM725795 NM_015404 AI669619 AA938876 BQ772091 
    AK056190 AI122701 BQ773251 BQ636975 BE890168 CA428581 AA746058 BM714728 
    BG983396 AA317697 AI627755 AL557526 CA423329 AI652727 BM744278 BX329269 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DFNB31 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c · 13d ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18a ·
    SP1:                                      -     -     -           -     -     -           -                             -                       -               
    SP2:                                                                                                                                            -               
    SP3:                                                  -           -     -     -           -                                                                     
    SP4:                                                              -     -     -           -                                                                     
    SP5:                                                                                      -     -     -     -     -     -                                       

    ExUns: 18b ^ 19 ^ 20 ^ 21
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for DFNB31

    (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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    DFNB31 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCCTGGGGA
    DFNB31 Expression
    About this image


    DFNB31 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Mesencephalic Ventricular Zone
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Eye (Sensory Organs)
             Retinal Pigmented Epithelium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    DFNB31 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DFNB31 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.93836
        Custom PCR Arrays for DFNB31
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    QuantiFast Probe-based Assays in human, mouse, rat DFNB31
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DFNB31

    (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 DFNB31 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Whrn1 , 5 whirlin1, 5 85.65(n)1
    88.26(a)1
      4 (33.97 cM)5
    737501  NM_001008793.21  NP_001008793.11 
     634149105 
    chicken
    (Gallus gallus)
    Aves DFNB311 deafness, autosomal recessive 31 73.45(n)
    71.65(a)
      429472  XM_427028.4  XP_427028.4 
    lizard
    (Anolis carolinensis)
    Reptilia DFNB316
    deafness, autosomal recessive 31
    60(a)
    1 ↔ 1
    GL344262.1(11099-26664)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.327162 Xenopus laevis transcribed sequence with moderate similarity more 76.27(n)    BJ640533.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003347771 whirlin-like 64.65(n)
    68.97(a)
      100334777  XM_002665922.3  XP_002665968.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta dysc6
    dyschronic
    21(a)
    1 → many
    3L(13860914-13896336)


    ENSEMBL Gene Tree for DFNB31 (if available)
    TreeFam Gene Tree for DFNB31 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DFNB31 gene
    PDZD72  USH1C2  
    3 SIMAP similar genes for DFNB31 using alignment to 2 protein entries:     WHRN_HUMAN (see all proteins):
    DLG4    PDZD7    PDZD11

    DFNB31 for paralogs           About GeneDecksing



    (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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    Selected SNPs for DFNB31 (see all 2521)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22741581,2,,4
    C,F,A,Hnon-pathogenic1117178314(+) CTCTCG/TTTCCG 6 K N mis1 ese326Minor allele frequency- T:0.22EA NS NA WA EU 10131
    rs22741591,2,,4
    C,F,A,Hnon-pathogenic1117178354(+) TGGACA/GCCGAC 6 A V mis132Minor allele frequency- G:0.44EA NA NS WA CSA EU 10325
    rs349632461,2
    C,Fnon-pathogenic1117178419(+) TCCTCA/G/TCTTAG 6 S syn17NA WA EU 6118
    rs9425191,2,,4
    C,F,Hnon-pathogenic1117181138(+) AAGGCA/GTGGAG 6 T M mis130Minor allele frequency- G:0.50EA MN NA NS WA CSA EU 8909
    rs123392101,2,,4
    C,F,A,Hnon-pathogenic1117182346(+) ATCTGG/CGAGGG 6 /P /A mis129Minor allele frequency- C:0.09NA NS EA EU 7965
    rs22741601,2
    C,F,O,Hnon-pathogenic1117182415(+) ATGGAC/TGAGAA 3 -- int128Minor allele frequency- T:0.12EA NS NA CSA WA EU 4656
    rs342521991,2
    C,Fnon-pathogenic1117197810(+) TGCCGC/TGCCTT 6 A syn13Minor allele frequency- T:0.03NA EU 5821
    rs49793871,2
    C,F,A,Hnon-pathogenic1117198781(+) CTGCCG/ACCACG 6 /G syn120Minor allele frequency- A:0.22NA NS EA WA CSA EU 6636
    rs49785841,2,,4
    C,F,A,Hnon-pathogenic1117198816(+) GGTGGC/TGTGTT 6 T A mis1 ese320Minor allele frequency- T:0.19NS EA NA EU 7885
    rs22978151,2
    C,F,A,Hnon-pathogenic1117279038(-) AACGTG/ACGCCA 5 /V syn1 us2k1 ese36Minor allele frequency- A:0.30NA WA EA EU 4136

    HapMap Linkage Disequilibrium report for DFNB31 (117164360 - 117267736 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for DFNB31:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2677969CNV Deletion23128226
    dgv33e196CNV Duplication17116639
    nsv6678CNV Insertion18451855
    nsv893750CNV Loss21882294
    esv27525CNV Gain19812545
    nsv831693CNV Gain17160897
    dgv948n27CNV Gain19166990

    Human Gene Mutation Database (HGMD): DFNB31
    Locus Specific Mutation Databases (LSDB): DFNB31

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DFNB31
    DNA2.0 Custom Variant and Variant Library Synthesis for DFNB31

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607928   
    OMIM disorders: 607084  611383  
    UniProtKB/Swiss-Prot: WHRN_HUMAN, Q9P202
  • Deafness, autosomal recessive, 31 (DFNB31) [MIM:607084]: 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Usher syndrome 2D (USH2D) [MIM:611383]: USH is a genetically heterogeneous condition characterized by the
    association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and
    vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome
    type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for DFNB31 (see all 24):    
    About MalaCards
    deafness, autosomal recessive 31    pyeloureteritis cystica    dfnb31 nonsyndromic hearing loss and deafness    usher syndrome type 2d
    usher syndrome type 2a    usher syndrome type ii    usher syndrome type 3    usher syndrome
    nonsyndromic hearing loss and deafness, autosomal recessive    nonsyndromic hearing loss and deafness    deafness, autosomal recessive 76    deafness and hereditary hearing loss
    sensorineural hearing loss    nonsyndromic deafness    cleft lip    retinitis pigmentosa
    pulmonary function    bipolar disorder    retinitis    colorectal cancer

    3 diseases from the University of Copenhagen DISEASES database for DFNB31:
    Usher syndrome     Nonsyndromic deafness     Retinitis pigmentosa

    DFNB31 for disorders           About GeneDecksing

    GeneTests: DFNB31
    GeneReviews: DFNB31
    Genetic Association Database (GAD): DFNB31
    Human Genome Epidemiology (HuGE) Navigator: DFNB31 (5 documents)

    Export disorders for DFNB31 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 DFNB31 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with DFNB31)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. (PubMed id 17171570)1, 2, 3, 9 Ebermann I.... Bolz H. (Hum. Genet. 2007)
    2. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. (PubMed id 12833159)1, 2, 3, 9 Mburu P.... Brown S.D. (Nat. Genet. 2003)
    3. Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin. (PubMed id 20352026)1, 4, 9 Aller E....MillA!n J.M. (Mol. Vis. 2010)
    4. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. (PubMed id 16434480)1, 2, 9 van Wijk E....Kremer H. (Hum. Mol. Genet. 2006)
    5. Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. (PubMed id 21254220)1, 4 Jiang Y. and Zhang H. (Genet. Epidemiol. 2011)
    6. Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PubMed id 20583170)1, 4 Letra A....Vieira A.R. (Am. J. Med. Genet. A 2010)
    7. Family-based association study for bipolar affective disorder. (PubMed id 20414141)1, 4 Secolin R....Lopes-Cendes I. (Psychiatr. Genet. 2010)
    8. Findings from bipolar disorder genome-wide association studies replicate in a Finnish bipolar family-cohort. (PubMed id 19308021)1, 4 Ollila H.M....Paunio T. (Mol. Psychiatry 2009)
    9. MPP1 links the Usher protein network and the Crumbs protein complex in the retina. (PubMed id 17584769)1, 2 Gosens I.... Roepman R. (Hum. Mol. Genet. 2007)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 25861 HGNC: 16361 AceView: DFNB31 Ensembl:ENSG00000095397 euGenes: HUgn25861
    ECgene: DFNB31 H-InvDB: DFNB31

    (According to HUGE)
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    HUGE: KIAA1526

    (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 DFNB31 Pharmacogenomics, SNPs, Pathways
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DFNB31 gene:
    Search GeneIP for patents involving DFNB31

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



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