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WWC1 Gene

protein-coding   GIFtS: 58
GCID: GC05P167652

WW And C2 Domain Containing 1

(Previous names: WW, C2 and coiled-coil domain containing 1)
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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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Aliases
WW And C2 Domain Containing 11 2     KIAA08693 5
KIBRA2 3 5     HBEBP32
WW, C2 And Coiled-Coil Domain Containing 11 2     HBEBP362
Kidney And Brain Protein2 3     Protein KIBRA2
HBeAg-Binding Protein 32 3     Protein WWC12
MEMRYQTL2 5     WW Domain-Containing Protein 13

External Ids:    HGNC: 294351   Entrez Gene: 232862   Ensembl: ENSG000001136457   OMIM: 6105335   UniProtKB: Q8IX033   

Export aliases for WWC1 gene to outside databases

Previous GC identifer: GC05P162818


(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 WWC1 Gene:
The protein encoded by this gene is a cytoplasmic phosphoprotein that interacts with PRKC-zeta and dynein light
chain-1. Alleles of this gene have been found that enhance memory in some individuals. Three transcript variants
encoding different isoforms have been found for this gene. (provided by RefSeq, Mar 2010)

GeneCards Summary for WWC1 Gene:
WWC1 (WW and C2 domain containing 1) is a protein-coding gene. GO annotations related to this gene include transcription coactivator activity and protein binding, bridging. An important paralog of this gene is WWC2.

UniProtKB/Swiss-Prot: KIBRA_HUMAN, Q8IX03
Function: Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a
pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with NF2 can
synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the
Hippo/SWH (Sav/Wts/Hpo) signaling pathway. Acts as a transcriptional coactivator of ESR1 which plays an essential
role in DYNLL1-mediated ESR1 transactivation. Regulates collagen-stimulated activation of the ERK/MAPK cascade.
Modulates directional migration of podocytes. Acts as a substrate for PRKCZ and may be associated with memory
performance

Gene Wiki entry for WWC1 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 at NCBI GenBank:
NC_000005.9  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the WWC1 gene promoter:
         E2F-3a   E2F-5   Sox5   E2F-1   E2F   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): WWC1 promoter sequence
   Search Chromatin IP Primers for WWC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat WWC1


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

Entrez Gene cytogenetic band: 5q34   Ensembl cytogenetic band:  5q34   HGNC cytogenetic band: 5q34

WWC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WWC1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P167652:  view genomic region     (about GC identifiers)

Start:
167,718,656 bp from pter      End:
167,899,308 bp from pter
Size:
180,653 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: KIBRA_HUMAN, Q8IX03 (See protein sequence)
Recommended Name: Protein KIBRA  
Size: 1113 amino acids; 125301 Da
Subunit: Homodimer. Interacts with DDN. Interacts with DYNLL1 and histone H3. The interaction with DYNLL1 is
mandatory for the recruitment and transactivation functions of ESR1 or DYNLL1 to the target chromatin and the
interaction with histone H3 ensures proper regulatory interaction of WWC1-DYNLL1-ESR1 complexes with target
chromatin. Interacts (via WW domains) with DDR1 (via PPxY motif) in a collagen-regulated manner. Interacts with
PRKCZ (via the protein kinase domain). Forms a tripartite complex with DDR1 and PRKCZ, but predominantly in the
absence of collagen. Interacts (via the ADDV motif) with INADL (via PDZ domain 8). Interacts (via WW domains)
with SYNPO (via PPxY motifs). Interacts with NF2 and SNX4
1 PDB 3D structure from and Proteopedia for WWC1:
2Z0U (3D)    
Secondary accessions: B4DK05 O94946 Q6MZX4 Q6Y2F8 Q7Z4G8 Q8WVM4 Q9BT29
Alternative splicing: 2 isoforms:  Q8IX03-1   Q8IX03-2   

Explore the universe of human proteins at neXtProt for WWC1: NX_Q8IX03

Explore proteomics data for WWC1 at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-542 and Ser-931 by CDK1 in response to spindle damage stress regulates mitotic exit, these
    two sites are dephosphorylated by CDC14B1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See WWC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001155133.1  NP_001155134.1  NP_056053.1  

    ENSEMBL proteins: 
     ENSP00000265293   ENSP00000427772   ENSP00000377473   ENSP00000429339   ENSP00000428084  
    Reactome Protein details: Q8IX03

    WWC1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for WWC1 

    WWC1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for WWC1

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    Search eBioscience for ELISAs for WWC1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WWC: WW, C2 and coiled-coil domain containing

    2 InterPro protein domains:
     IPR001202 WW_dom
     IPR000008 C2_dom

    Graphical View of Domain Structure for InterPro Entry Q8IX03

    ProtoNet protein and cluster: Q8IX03

    UniProtKB/Swiss-Prot: KIBRA_HUMAN, Q8IX03
    Domain: The C2-domain mediates homodimerization
    Similarity: Belongs to the WWC family. KIBRA subfamily
    Similarity: Contains 1 C2 domain
    Similarity: Contains 2 WW domains


    Find genes that share domains with WWC1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KIBRA_HUMAN, Q8IX03
    Function: Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a
    pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with NF2 can
    synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the
    Hippo/SWH (Sav/Wts/Hpo) signaling pathway. Acts as a transcriptional coactivator of ESR1 which plays an essential
    role in DYNLL1-mediated ESR1 transactivation. Regulates collagen-stimulated activation of the ERK/MAPK cascade.
    Modulates directional migration of podocytes. Acts as a substrate for PRKCZ and may be associated with memory
    performance
    Induction: Strongly up-regulated by progestin treatment

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003713transcription coactivator activity IDA16684779
    GO:0005515protein binding IPI16684779
    GO:0030674protein binding, bridging IEA--
         
    Find genes that share ontologies with WWC1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for WWC1:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Wwc1):
     behavior/neurological  nervous system 

    Find genes that share phenotypes with WWC1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for WWC1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for WWC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for WWC1

    miRNA
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    miRTarBase miRNAs that target WWC1:
    hsa-mir-155-5p (MIRT020928), hsa-mir-375 (MIRT019952)

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    Selected qRT-PCR Assays for microRNAs that regulate WWC1 (see all 59):
    hsa-miR-579 hsa-miR-21* hsa-miR-300 hsa-miR-1914* hsa-miR-15a hsa-miR-513a-5p hsa-miR-25 hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidWWC1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat WWC1

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    GenScript: all cDNA clones in your preferred vector (see all 3): WWC1 (NM_015238)
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    Addgene plasmids for WWC1 

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    (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
    KIBRA_HUMAN, Q8IX03: Cytoplasm. Cytoplasm, perinuclear region. Nucleus. Cell projection, ruffle membrane.
    Note=Colocalizes with PRKCZ in the perinuclear region
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytosol4
    golgi apparatus4
    cytoskeleton1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16684779
    GO:0005737cytoplasm IDA16684779
    GO:0005794Golgi apparatus ----
    GO:0005829cytosol TAS--
    GO:0032587ruffle membrane IDA18190796

    Find genes that share ontologies with WWC1           About GenesLikeMe


    (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 WWC1 About    
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signal Transduction0.58
    2Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    3Signaling by Hippo
    Signaling by Hippo
    4Hippo signaling pathway
    Hippo signaling pathway


    Find genes that share SuperPaths with WWC1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for WWC1
        Wnt / Hedgehog / Notch

    1 Reactome Pathway for WWC1
        Signaling by Hippo


    1 Kegg Pathway  (Kegg details for WWC1):
        Hippo signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for WWC1
    Interactions:

        GeneGlobe Interaction Network for WWC1

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

    Selected Interacting proteins for WWC1 (Q8IX032, 3 ENSP000002652934) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:0016477cell migration IDA18596123
    GO:0035329hippo signaling TAS--
    GO:0035330regulation of hippo signaling IMP--

    Find genes that share ontologies with WWC1           About GenesLikeMe



    (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 WWC1 (KIBRA)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for WWC1 gene (3 alternative transcripts): 
    NM_001161661.1  NM_001161662.1  NM_015238.2  

    Unigene Cluster for WWC1:

    WW and C2 domain containing 1
    Hs.484047  [show with all ESTs]
    Unigene Representative Sequence: NM_001161661
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265293(uc003lzv.3 uc011den.2 uc003lzu.3 uc003lzw.3)
    ENST00000521089(uc010jjf.1) ENST00000523043 ENST00000519859 ENST00000393895
    ENST00000519659 ENST00000517425 ENST00000524228 ENST00000517646 ENST00000518334
    ENST00000524093 ENST00000524038 ENST00000522140 ENST00000521391 ENST00000518204

    miRNA
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    Block miRNA regulation of human, mouse, rat WWC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate WWC1 (see all 59):
    hsa-miR-579 hsa-miR-21* hsa-miR-300 hsa-miR-1914* hsa-miR-15a hsa-miR-513a-5p hsa-miR-25 hsa-let-7a-2*
    SwitchGear 3'UTR luciferase reporter plasmidWWC1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): WWC1 (NM_015238)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat WWC1
    Addgene plasmids for WWC1 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat WWC1
      QuantiTect SYBR Green Assays in human, mouse, rat WWC1
      QuantiFast Probe-based Assays in human, mouse, rat WWC1

    Additional mRNA sequence: 

    AB020676.1 AF506799.1 AF530058.1 AK001727.1 AK027022.1 AK296323.1 AY189820.1 BC004394.1 
    BC017746.1 BC038463.1 BC042553.1 BX640827.1 

    15 DOTS entries:

    DT.99970293  DT.412304  DT.75100546  DT.100730916  DT.100785439  DT.95299629  DT.208542  DT.75100154 
    DT.107899  DT.92426669  DT.120817112  DT.92426665  DT.95138467  DT.95264615  DT.427876 

    Selected AceView cDNA sequences (see all 146):

    AF506799 AK027022 R35143 AA476990 BU687290 AI421599 BM977017 CB156571 
    AA410954 BE551084 BF033021 CA313640 AI799988 BM684018 BM674883 AW027764 
    AI421231 AK001727 AF530058 AI675413 BG674332 AI741792 AW027395 CK429589 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for WWC1 (see all 17)    About this scheme

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

    ExUns: 16 ^ 17a · 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b
    SP1:                                                                                                                  
    SP2:                                                                                -                                 
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for WWC1

    (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)
    About This Section

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    WWC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    WWC1 Expression
    About this image


    WWC1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 13 entries
             Thalamus
             Septum   
     
     Kidney (Urinary System)
    WWC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    WWC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.484047

    UniProtKB/Swiss-Prot: KIBRA_HUMAN, Q8IX03
    Tissue specificity: Expressed in mammary epithelial cells and breast cancer cell lines. Found in the luminal
    epithelium surrounding the ducts in the normal breast. In the brain, expressed in somatodendritic compartment of
    neurons in the cortex and hippocampus and in the cerebellum it is found in the Purkinje cells and some granule
    cells (at protein level). Detected in brain, heart, colon and kidney. In the kidney, expressed in glomerular
    podocytes, in some tubules and in the collecting duct

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    In Situ
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    (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 WWC1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Wwc11 , 5 WW, C2 and coiled-coil domain containing 11, 5 87.58(n)1
    92.11(a)1
      11 (21.96 cM)5
    2116521  NM_170779.11  NP_740749.11 
     358384005 
    chicken
    (Gallus gallus)
    Aves WWC11 WW and C2 domain containing 1 72.53(n)
    77.55(a)
      416167  NM_001277150.1  NP_001264079.1 
    lizard
    (Anolis carolinensis)
    Reptilia WWC16
    WW and C2 domain containing 1
    72(a)
    1 ↔ 1
    1(112418126-112535471)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC042930.12   -- 76.17(n)    BC042930.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-174n5.31 si:dkey-174n5.3 62.43(n)
    60.32(a)
      560785  XM_684183.5  XP_689275.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta kibra6
    kibra ortholog
    28(a)
    1 → many
    3R(10524252-10549978)


    ENSEMBL Gene Tree for WWC1 (if available)
    TreeFam Gene Tree for WWC1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for WWC1 gene
    WWC22  WWC32  
    2 SIMAP similar genes for WWC1 using alignment to 5 protein entries:     KIBRA_HUMAN (see all proteins):
    WWC2    WWC3

    Find genes that share paralogs with WWC1           About GenesLikeMe



    (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 WWC1 (see all 4289)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1406779021,2
    C--162816263(+) GCAAAC/TATCAA 3 -- us2k10--------
    rs1908850291,2
    --162816275(+) AGAGAG/TGAACA 3 -- us2k10--------
    rs1840273621,2
    --162816303(+) TGTTCC/TACATC 3 -- us2k10--------
    rs728383151,2
    C,F--162816320(+) ATGGGG/TAAGTT 3 -- us2k12Minor allele frequency- T:0.04NA 122
    rs1889283161,2
    C--162816530(+) TGGTGA/GAACTC 3 -- us2k10--------
    rs1932623011,2
    --162816590(+) TGTAAG/TCCCAG 3 -- us2k10--------
    rs100510691,2
    C,F--162816645(+) CAGAGG/CTTGTA 3 -- us2k12Minor allele frequency- C:0.50NA CSA 4
    rs1843575401,2
    --162816734(+) TATAGA/GTTAAT 3 -- us2k10--------
    rs126531431,2
    H--167718848(+) gcggcG/Tgcggc 3 -- us2k10--------
    rs3704644871,2
    C--167721425(+) CAAAC-/AAAAAA 3 -- int10--------

    HapMap Linkage Disequilibrium report for WWC1 (167718656 - 167899308 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for WWC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv5120CNV Insertion18451855
    nsv5118CNV Insertion18451855
    esv271087CNV Insertion20981092
    nsv823340CNV Loss20364138
    nsv5119CNV Loss18451855

    Human Gene Mutation Database (HGMD): WWC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing WWC1
    DNA2.0 Custom Variant and Variant Library Synthesis for WWC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610533   
    OMIM disorders: 615602  

    Find genes that share disorders with WWC1           About GenesLikeMe

    Genetic Association Database (GAD): WWC1
    Human Genome Epidemiology (HuGE) Navigator: WWC1 (19 documents)

    Export disorders for WWC1 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 WWC1 gene, integrated from 10 sources (see all 66):
    (articles sorted by number of sources associating them with WWC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of KIBRA, a novel WW domain-containing protein. (PubMed id 12559952)1, 2, 3, 9 Kremerskothen J.... Barnekow A. (Biochem. Biophys. Res. Commun. 2003)
    2. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 1998)
    3. Phospho-regulation of KIBRA by CDK1 and CDC14 phosphatase controls cell-cycle progression. (PubMed id 22784093)1, 2 Ji M.... Dong J. (Biochem. J. 2012)
    4. Single nucleotide polymorphism of the KIBRA gene in recurrent depressive disorders. (PubMed id 20150879)1, 4 Galecki P....Lewinski A. (Neuro Endocrinol. Lett. 2010)
    5. KIBRA genetic polymorphism influences episodic memory in Alzheimer's disease, but does not show association with disease in a Japanese cohort. (PubMed id 20881395)1, 4 Hayashi N....Takeda M. (Dement Geriatr Cogn Disord 2010)
    6. KIBRA and CLSTN2 polymorphisms exert interactive effects on human episodic memory. (PubMed id 19804789)1, 4 Preuschhof C....BAockman L. (Neuropsychologia 2010)
    7. Genetic associations of brain structural networks in schizophrenia: a preliminary study. (PubMed id 20691427)1, 4 Jagannathan K....Pearlson G.D. (Biol. Psychiatry 2010)
    8. Evidence for an association between KIBRA and late-onset Alzheimer's disease. (PubMed id 18789830)1, 4 Corneveaux J.J....Huentelman M.J. (Neurobiol. Aging 2010)
    9. Evidence of association of KIBRA genotype with episodic memory in families of psychotic patients and controls. (PubMed id 20185150)1, 4 Vassos E....Toulopoulou T. (J Psychiatr Res 2010)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 23286 HGNC: 29435 AceView: KIBRA Ensembl:ENSG00000113645 euGenes: HUgn23286
    ECgene: WWC1 Kegg: 23286 H-InvDB: WWC1

    (According to HUGE)
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    HUGE: KIAA0869

    (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 WWC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for WWC1 gene:
    Search GeneIP for patents involving WWC1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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