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

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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. GO annotations related to this gene include protein binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NT_008470.19  NC_018920.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for DFNB31

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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. Co-localizes 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)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P202

  • DFNB31 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DFNB31 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001077354.2  NP_001166896.1  NP_056219.3  

    ENSEMBL proteins: 
     ENSP00000265134   ENSP00000363172   ENSP00000354623   ENSP00000363170  

    Human Recombinant Protein Products for DFNB31: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

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


    Phenotypes:
         15/16 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 
     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 - Custom generated mouse model solutions for DFNB31 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DFNB31

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

    5/53 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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DFNB31 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about DFNB31 / WHRN

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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
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    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 

    24/96 AceView cDNA sequences (see all 96):

    AI627755 BM725795 BQ636975 AW246635 AI669619 BM714728 BQ772091 AA317697 
    BG983396 AK056190 NM_015404 BM677917 AL557526 CA428581 BE890168 AA938876 
    BQ773251 AI122701 AA378757 AA746058 BQ648268 AI950466 BF969269 AK022854 

    GeneLoc Exon Structure

    5/11 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™, 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

    DFNB31 expression in normal human tissues (normalized intensities)      DFNB31 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
             brain/midbrain   
     
     Adrenal Gland (Endocrine System)    fully expand to see all 2 entries
             adrenal cortex   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Mesencephalic Ventricular Zone
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Ovary (Reproductive System)
             oocyte   

    See DFNB31 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DFNB31

    SOURCE GeneReport for Unigene cluster: Hs.93836
        SABiosciences Custom PCR Arrays for DFNB31
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for DFNB31 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Whrn1 , 5 whirlin1, 5 86.09(n)1
    88.52(a)1
      4 (33.97 cM)5
    737501  NM_001008792.11  NP_001008792.11 
     634149105 
    chicken
    (Gallus gallus)
    Aves DFNB311 deafness, autosomal recessive 31 73.57(n)
    71.2(a)
      429472  XM_427028.3  XP_427028.3 
    lizard
    (Anolis carolinensis)
    Reptilia DFNB316
    Uncharacterized protein
    61(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 64.36(n)
    67.69(a)
      100334777  XM_002665922.2  XP_002665968.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta dysc6
    dyschronic
    22(a)
    1 ↔ 1
    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)
    About This Section
    Paralogs for DFNB31 gene
    PDZD72  USH1C2  
    2 SIMAP similar genes for DFNB31 using alignment to 2 protein entries:     WHRN_HUMAN (see all proteins):
    DLG4    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) 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

    10/2521 SNPs in DFNB31 are shown (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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 16 diseases for DFNB31:    About MalaCards
    deafness, autosomal recessive 31    pyeloureteritis cystica    dfnb31 nonsyndromic hearing loss and deafness    usher syndrome type 2d
    usher syndrome type ii    usher syndrome type 3    usher syndrome    nonsyndromic hearing loss and deafness, autosomal recessive
    sensorineural hearing loss    nonsyndromic deafness    cleft lip    retinitis pigmentosa
    bipolar disorder    retinitis    colorectal cancer    neuronitis

    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)
    About This Section

    PubMed articles for DFNB31 gene, integrated from 9 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. (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. (2003)
    3. Sequence variants of the DFNB31 gene among Usher synd rome patients of diverse origin. (PubMed id 20352026)1, 4, 9 Aller E....MillA!n J.M. (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. (2006)
    5. Propensity score-based nonparametric test revealing ge netic variants underlying bipolar disorder. (PubMed id 21254220)1, 4 Jiang Y. and Zhang H. (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. (2010)
    7. Family-based association study for bipolar affective disorder. (PubMed id 20414141)1, 4 Secolin R....Lopes-Cendes I. (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. (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. (2007)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 25861 HGNC: 16361 AceView: DFNB31 Ensembl:ENSG00000095397 euGenes: HUgn25861
    ECgene: DFNB31 H-InvDB: DFNB31

    (According to HUGE)
    About This Section
    HUGE: KIAA1526

    (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 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.)
    About This Section
    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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