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CDC42BPB Gene

protein-coding   GIFtS: 61
GCID: GC14M103398

CDC42 Binding Protein Kinase Beta (DMPK-Like)

(Previous name: CDC42-binding protein kinase beta (DMPK-like))
  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
CDC42 Binding Protein Kinase Beta (DMPK-Like)1 2     EC 2.7.11.13 8
CDC42-Binding Protein Kinase Beta (DMPK-Like)1 2     MRCKB2 5
Myotonic Dystrophy Kinase-Related CDC42-Binding Kinase Beta2 3     Serine/Threonine-Protein Kinase MRCK Beta2
Myotonic Dystrophy Protein Kinase-Like Beta2 3     KIAA11243
CDC42BP-beta2 3     CDC42-Binding Protein Kinase Beta3
DMPK-Like Beta2 3     EC 2.7.118
MRCK Beta2 3     

External Ids:    HGNC: 17381   Entrez Gene: 95782   Ensembl: ENSG000001987527   OMIM: 6140625   UniProtKB: Q9Y5S23   

Export aliases for CDC42BPB gene to outside databases

Previous GC identifers: GC14M100789 GC14M097214 GC14M101388 GC14M102468 GC14M083573


(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 CDC42BPB Gene:
This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a
Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most
closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested
that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. (provided by RefSeq,
Jul 2008)

GeneCards Summary for CDC42BPB Gene:
CDC42BPB (CDC42 binding protein kinase beta (DMPK-like)) is a protein-coding gene. Diseases associated with CDC42BPB include myotonic dystrophy, and spondylitis. GO annotations related to this gene include protein serine/threonine kinase activity and magnesium ion binding. An important paralog of this gene is CDC42BPG.

UniProtKB/Swiss-Prot: MRCKB_HUMAN, Q9Y5S2
Function: Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in
the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via
phosphorylation of PPP1R12C and MYL9/MLC2. In concert with MYO18A and LURAP1, is involved in modulating lamellar
actomyosin retrograde flow that is crucial to cell protrusion and migration. Phosphorylates PPP1R12A




(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_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CDC42BPB gene promoter:
         AREB6   CREB   AhR   C/EBPbeta   E2F-1   Nkx5-1   GATA-1   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDC42BPB promoter sequence
   Search Chromatin IP Primers for CDC42BPB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CDC42BPB


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

Entrez Gene cytogenetic band: 14q32.3   Ensembl cytogenetic band:  14q32.32   HGNC cytogenetic band: 14q32.32

CDC42BPB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDC42BPB gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M103398:  view genomic region     (about GC identifiers)

Start:
103,398,716 bp from pter      End:
103,523,799 bp from pter
Size:
125,084 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: MRCKB_HUMAN, Q9Y5S2 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase MRCK beta  
Size: 1711 amino acids; 194315 Da
Cofactor: Magnesium (By similarity)
Subunit: Homodimer and homotetramer via the coiled coil regions. Interacts tightly with GTP-bound but not
GDP-bound CDC42. Interacts with TJP1, when in the presence of catalytically active CDC42 (By similarity). Forms a
tripartite complex with MYO18A and LURAP1 with the latter acting as an adapter connecting CDC42BPB and MYO18A.
LURAP1 binding results in activation of CDC42BPB by abolition of its negative autoregulation
Sequence caution: Sequence=AAH47871.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=BAA86438.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for CDC42BPB:
3QFV (3D)        3TKU (3D)    
Secondary accessions: Q2L7A5 Q86TJ1 Q9ULU5

Explore the universe of human proteins at neXtProt for CDC42BPB: NX_Q9Y5S2

Explore proteomics data for CDC42BPB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys864
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CDC42BPB (Q9Y5S2) (see all 19)
     LPFIGFT  IRRLEQE  CDWWSLG  FKVPEEE 


    See CDC42BPB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006026.3  
    ENSEMBL proteins: 
     ENSP00000355237   ENSP00000453311   ENSP00000453384  

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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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    IUPHAR Guide to PHARMACOLOGY protein family classification: CDC42 binding protein kinase beta (DMPK-like)
    GEK subfamily
    Other AGC kinases

    Selected InterPro protein domains (see all 13):
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR014930 Myotonic_dystrophy_kinase_coil
     IPR020454 DAG/PE-bd
     IPR026611 Ser/Thr_kinase_MRCK

    Graphical View of Domain Structure for InterPro Entry Q9Y5S2

    ProtoNet protein and cluster: Q9Y5S2

    3 Blocks protein domains:
    IPB000961 Protein kinase C-terminal domain
    IPB001180 Citron-like
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: MRCKB_HUMAN, Q9Y5S2
    Similarity: Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily
    Similarity: Contains 1 AGC-kinase C-terminal domain
    Similarity: Contains 1 CNH domain
    Similarity: Contains 1 CRIB domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 phorbol-ester/DAG-type zinc finger
    Similarity: Contains 1 protein kinase domain


    CDC42BPB 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: MRCKB_HUMAN, Q9Y5S2
    Function: Serine/threonine-protein kinase which is an important downstream effector of CDC42 and plays a role in
    the regulation of cytoskeleton reorganization and cell migration. Regulates actin cytoskeletal reorganization via
    phosphorylation of PPP1R12C and MYL9/MLC2. In concert with MYO18A and LURAP1, is involved in modulating lamellar
    actomyosin retrograde flow that is crucial to cell protrusion and migration. Phosphorylates PPP1R12A
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Maintained in an inactive, closed conformation by an interaction between the kinase domain and
    the negative autoregulatory C-terminal coiled-coil region. Agonist binding to the phorbol ester binding site
    disrupts this, releasing the kinase domain to allow N-terminus-mediated dimerization and kinase activation by
    transautophosphorylation (By similarity). Inhibited by chelerythrine chloride

         Genatlas biochemistry entry for CDC42BPB:
    CDC42-binding protein kinase beta,rat myotonic dystrophy protein kinase related (DMPK-like),beta (MRCKB),widely
    expressed,phosphorylating non muscle myosin like chain (see MYLK),a prerequisite for the activation of
    actin-myosin contractility,downstream effector of CDC42 in cytoskeletal reorganization

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding ISS--
    GO:0004672protein kinase activity IDA--
    GO:0004674protein serine/threonine kinase activity ISS--
    GO:0004713protein tyrosine kinase activity ----
    GO:0005083small GTPase regulator activity IEA--
         
    CDC42BPB for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CDC42BPB:
     Proliferating cells 

    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target CDC42BPB:
    hsa-mir-155-5p (MIRT020532), hsa-mir-1 (MIRT023484)

    Block miRNA regulation of human, mouse, rat CDC42BPB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CDC42BPB (see all 44):
    hsa-miR-323-3p hsa-miR-548j hsa-miR-513a-5p hsa-miR-632 hsa-miR-374a hsa-miR-342-3p hsa-miR-519a hsa-miR-1184
    SwitchGear 3'UTR luciferase reporter plasmidCDC42BPB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CDC42BPB

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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
    MRCKB_HUMAN, Q9Y5S2: Cytoplasm (By similarity). Cell membrane; Peripheral membrane protein; Cytoplasmic side.
    Cell junction. Note=Displays a dispersed punctate distribution and concentrates along the cell periphery,
    especially at the leading edge and cell-cell junction. This concentration is PH-domain dependent (By similarity).
    Detected at the leading edge of migrating cells. Localization at the leading edge of migrating cells requires
    interaction with catalytically active CDC42
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    plasma membrane5
    cytosol2
    extracellular2
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005856cytoskeleton TAS9418861
    GO:0005886plasma membrane IEA--
    GO:0005911cell-cell junction ISS--
    GO:0031252cell leading edge ISS--

    CDC42BPB 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 CDC42BPB
    Interactions:

        Search GeneGlobe Interaction Network for CDC42BPB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for CDC42BPB (Q9Y5S22, 3 ENSP000003552374) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TJP1Q071572, 3, ENSP000002815374MINT-8147048 MINT-8146695 MINT-8146607 I2D: score=1 STRING: ENSP00000281537
    DCDP816053, ENSP000002933714I2D: score=2 STRING: ENSP00000293371
    CDC42BPAQ5VT253, ENSP000003557314I2D: score=1 STRING: ENSP00000355731
    KRT78Q8N1N43, ENSP000003062614I2D: score=1 STRING: ENSP00000306261
    MYO18AQ926143, ENSP000003462914I2D: score=1 STRING: ENSP00000346291
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ISS--
    GO:0007010cytoskeleton organization TAS9418861
    GO:0007163establishment or maintenance of cell polarity TAS9418861
    GO:0007165signal transduction TAS9418861
    GO:0016477cell migration IMP18854160

    CDC42BPB 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 CDC42BPB (MRCKB)

    Selected HMDB Compounds for CDC42BPB (see all 845)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----
    DG(14:0/18:3(6Z,9Z,12Z)/0:0)Diacylglycerol(14:0/18:3n6) (see all 16)----



    (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 CDC42BPB gene: 
    NM_006035.3  

    Unigene Cluster for CDC42BPB:

    CDC42 binding protein kinase beta (DMPK-like)
    Hs.654634  [show with all ESTs]
    Unigene Representative Sequence: AF128625
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361246(uc001ymj.1 uc001ymi.1) ENST00000560492 ENST00000559790
    ENST00000559245 ENST00000558867 ENST00000559043 ENST00000558321 ENST00000561271

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    hsa-miR-323-3p hsa-miR-548j hsa-miR-513a-5p hsa-miR-632 hsa-miR-374a hsa-miR-342-3p hsa-miR-519a hsa-miR-1184
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      QuantiFast Probe-based Assays in human, mouse, rat CDC42BPB

    Additional mRNA sequence: 

    AB032950.3 AF128625.1 AK058115.1 BC047871.1 BC048261.1 BC155541.1 BX248752.1 

    17 DOTS entries:

    DT.432038  DT.95113019  DT.95113018  DT.120773058  DT.100701139  DT.40310050  DT.100701676  DT.120773113 
    DT.75196912  DT.95113065  DT.100819448  DT.120773115  DT.75129740  DT.91737866  DT.120773096  DT.91772829 
    DT.99955757 

    Selected AceView cDNA sequences (see all 425):

    BG286876 BM741433 AA324819 AL079429 AI243796 BM931135 BM670466 BQ959960 
    AI761729 AA350276 BM709618 BX248752 BU152842 BM724056 BM742543 BF196834 
    BU845217 BU687232 BQ669224 BG403684 CB158522 AA350036 AI342317 BQ426039 

    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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    CDC42BPB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCCCCCGT
    CDC42BPB Expression
    About this image

    CDC42BPB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CDC42BPB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654634

    UniProtKB/Swiss-Prot: MRCKB_HUMAN, Q9Y5S2
    Tissue specificity: Expressed in all tissues examined, with high levels in heart, brain, placenta and lung

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDC42BPB

    (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 CDC42BPB gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdc42bpb1 , 5 CDC42 binding protein kinase beta1, 5 85.86(n)1
    91.99(a)1
      12 (60.94 cM)5
    2178661  NM_183016.21  NP_898837.21 
     1112929725 
    chicken
    (Gallus gallus)
    Aves CDC42BPB1 CDC42 binding protein kinase beta (DMPK-like) 77.88(n)
    83.92(a)
      423473  XM_004936352.1  XP_004936409.1 
    lizard
    (Anolis carolinensis)
    Reptilia CDC42BPB6
    CDC42 binding protein kinase beta (DMPK-like)
    84(a)
    1 ↔ 1
    GL343232.1(781148-925254)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.235722 Xenopus laevis, Similar to CDC42 binding protein kinase beta (DMPK-like), clone IMAGE4884516, mRNA, partial cds less 79.08(n)    BC041741.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570447822   -- 78.21(n)    57044782 
    fruit fly
    (Drosophila melanogaster)
    Insecta gek3 actin polymerization and/or
    depolymerization protein
    serine/threonine kinase less
    40(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea K08B12.53 serine/threonine-protein kinase 37(a)   V(6260624-6269785)   --


    ENSEMBL Gene Tree for CDC42BPB (if available)
    TreeFam Gene Tree for CDC42BPB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CDC42BPB gene
    CDC42BPG2  DMPK2  LATS12  STK38L2  STK382  MASTL2  CIT2  ROCK12  
    CDC42BPA2  LATS22  ROCK22  
    Selected SIMAP similar genes for CDC42BPB using alignment to 5 protein entries:     MRCKB_HUMAN (see all proteins) (see all similar genes):
    CDC42BPA    DKFZp686P1738    ROCK2    ROCK1    DMPK    CDC42BPG
    KIN27    PRKCQ    SGK1    SGK2    RPS6KA3    AKT3
    PRKACG    PRKX    PRKACB    MARK4    PRKACA    PRKY

    CDC42BPB for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for CDC42BPB
    PGOHUM00000241700 PGOHUM00000241702


    (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 CDC42BPB (see all 3619)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0408374
    A colorectal adenocarcinoma sample4--see VAR_0408372 R W mis40--------
    VAR_0408384
    A lung large cell carcinoma sample4--see VAR_0408382 E K mis40--------
    VAR_0408344
    A breast infiltrating ductal carcinoma sample4--see VAR_0408342 K E mis40--------
    rs666219841,2
    C--83686518(-) TTCAA-/TATT  
            
    TATTT
    1 -- int11Minor allele frequency- TATT:0.00NA 2
    rs342765321,2
    C,F--84515931(-) GCGCGG/AGCTCC 1 -- int14Minor allele frequency- A:0.03NS 150
    rs360422141,2
    C,F--84515980(-) GGGTCC/GGCAGG 1 -- int14Minor allele frequency- G:0.02NS 164
    rs1909085561,2
    --84515984(+) CGGACC/TCGGTG 1 -- int10--------
    rs1830986271,2
    --84515986(+) GACCCC/GGTGCC 1 -- int10--------
    rs1877343381,2
    C--84515991(+) GGTGCC/TTTCAG 1 -- int10--------
    rs359769291,2
    C,F--84516025(-) GGGATC/ACGCGA 1 -- int15Minor allele frequency- A:0.01NS CSA 164

    HapMap Linkage Disequilibrium report for CDC42BPB (103398716 - 103523799 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CDC42BPB (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749155CNV Deletion23290073
    esv2671530CNV Deletion23128226
    esv2749156CNV Deletion23290073
    esv2749157CNV Deletion23290073
    esv2749154CNV Deletion23290073
    esv269754CNV Insertion20981092
    nsv509552CNV Insertion20534489
    nsv1431CNV Insertion18451855
    dgv1985n71CNV Loss21882294
    nsv832882CNV Loss17160897

    Human Gene Mutation Database (HGMD): CDC42BPB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CDC42BPB
    DNA2.0 Custom Variant and Variant Library Synthesis for CDC42BPB

    (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: 614062    OMIM disorders: --

    4 diseases for CDC42BPB:    About MalaCards
    myotonic dystrophy    spondylitis    ankylosing spondylitis    ovarian cancer


    CDC42BPB for disorders           About GeneDecksing

    Genetic Association Database (GAD): CDC42BPB
    Human Genome Epidemiology (HuGE) Navigator: CDC42BPB (1 document)

    Export disorders for CDC42BPB 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 CDC42BPB gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with CDC42BPB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and chromosomal localization of human Cdc42-binding protein kinase beta. (PubMed id 10198171)1, 2, 3, 9 Moncrieff C.L.... Johnson K.J. (Genomics 1999)
    2. Co-crystal structures of inhibitors with MRCKbeta, a key regulator of tumor cell invasion. (PubMed id 21949762)1, 2 Heikkila T.... Olson M.F. (PLoS ONE 2011)
    3. Cdc42-dependent formation of the ZO-1/MRCKbeta complex at the leading edge controls cell migration. (PubMed id 21240187)1, 2 Huo L.... Zhang M. (EMBO J. 2011)
    4. Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility. (PubMed id 21471979)1, 4 Kumar V....Matsuda K. (J. Hum. Genet. 2011)
    5. 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)
    6. A tripartite complex containing MRCK modulates lamellar actomyosin retrograde flow. (PubMed id 18854160)1, 2 Tan I.... Leung T. (Cell 2008)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    10. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (DNA Res. 1999)

    (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: 9578 HGNC: 1738 AceView: CDC42BPB Ensembl:ENSG00000198752 euGenes: HUgn9578
    ECgene: CDC42BPB H-InvDB: CDC42BPB

    (According to HUGE)
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    HUGE: KIAA1124

    (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 CDC42BPB Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cdc42bpb/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CDC42BPB gene:
    Search GeneIP for patents involving CDC42BPB

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



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