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Aliases for CDC42BPA Gene

Aliases for CDC42BPA Gene

  • CDC42 Binding Protein Kinase Alpha 2 3 5
  • Myotonic Dystrophy Kinase-Related CDC42-Binding Kinase Alpha 3 4
  • Myotonic Dystrophy Protein Kinase-Like Alpha 3 4
  • DMPK-Like Alpha 3 4
  • MRCK Alpha 3 4
  • Ser-Thr Protein Kinase Related To The Myotonic Dystrophy Protein Kinase 3
  • Myotonic Dystrophy Kinase-Related CDC42-Binding Protein Kinase Alpha 3
  • Myotonic Dystrophy Kinase-Related Cdc42-Binding Kinase 2
  • CDC42 Binding Protein Kinase Alpha (DMPK-Like) 3
  • CDC42-Binding Protein Kinase Alpha (DMPK-Like) 2
  • Serine/Threonine-Protein Kinase MRCK Alpha 3
  • CDC42-Binding Protein Kinase Alpha 4
  • CDC42 Binidng Protein Kinase Beta 3
  • Ser-Thr Protein Kinase PK428 3
  • EC 2.7.11.1 4
  • KIAA0451 4
  • MRCKA 3
  • PK428 3
  • MRCK 3

External Ids for CDC42BPA Gene

Previous GeneCards Identifiers for CDC42BPA Gene

  • GC00U990464
  • GC01M223045
  • GC01M223563
  • GC01M224152
  • GC01M224154
  • GC01M223484
  • GC01M225244
  • GC01M227177
  • GC01M197694

Summaries for CDC42BPA Gene

Entrez Gene Summary for CDC42BPA Gene

  • The protein encoded by this gene is a member of the Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for CDC42BPA Gene

CDC42BPA (CDC42 Binding Protein Kinase Alpha) is a Protein Coding gene. Diseases associated with CDC42BPA include Myotonic Dystrophy. Among its related pathways are Actin Nucleation by ARP-WASP Complex and G-protein signaling RAC1 in cellular process. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is CDC42BPB.

UniProtKB/Swiss-Prot for CDC42BPA Gene

  • 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 (PubMed:15723050, PubMed:9418861, PubMed:9092543). Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates: PPP1R12A, LIMK1 and LIMK2 (PubMed:11340065, PubMed:11399775). May play a role in TFRC-mediated iron uptake (PubMed:20188707). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity).

Gene Wiki entry for CDC42BPA Gene

Additional gene information for CDC42BPA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDC42BPA Gene

Genomics for CDC42BPA Gene

GeneHancer (GH) Regulatory Elements for CDC42BPA Gene

Promoters and enhancers for CDC42BPA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J227314 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 665.5 +1.5 1530 5.8 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CDC42BPA CICP26 ENSG00000269890 ZNF678 PRSS38 LOC100126822 C1orf35 MRPL55 LOC100418874 GC01M227291
GH01J227101 Promoter 0.5 EPDnew 650.1 +217.3 217259 0.1 CDC42BPA GC01P227094 GC01P227159
GH01J227733 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 41.4 -416.6 -416600 2.8 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 JMJD4 SNAP47 CICP26 ZNF678 C1orf35 ENSG00000269890 CDC42BPA PRSS38 HIST3H3 LOC100126822
GH01J227431 Enhancer 1.4 Ensembl ENCODE dbSUPER 46.2 -113.6 -113555 1.5 PKNOX1 FOXA2 ARNT ZNF2 ZNF766 ZNF416 FOS MCM3 REST ZNF662 BTF3P9 RPS18P3 CICP26 ZNF678 C1orf35 CDC42BPA ENSG00000269890 JMJD4 HIST3H3 PSEN2
GH01J228137 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23.5 -823.6 -823573 8.8 DMAP1 YY1 E2F8 ZNF143 ZNF548 SP3 NFYC MEF2D GLIS1 NBN GUK1 OBSCN CICP26 ENSG00000269890 CDC42BPA ZNF678 OBSCN-AS1 C1orf35 FAM96AP2 MRPL55
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDC42BPA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDC42BPA gene promoter:
  • Zic1
  • FOXO1a
  • FOXO1
  • MEF-2A
  • aMEF-2
  • S8
  • POU6F1 (c2)
  • AP-1
  • Pbx1a

Genomic Locations for CDC42BPA Gene

Genomic Locations for CDC42BPA Gene
chr1:226,989,858-227,318,492
(GRCh38/hg38)
Size:
328,635 bases
Orientation:
Minus strand
chr1:227,177,566-227,506,175
(GRCh37/hg19)
Size:
328,610 bases
Orientation:
Minus strand

Genomic View for CDC42BPA Gene

Genes around CDC42BPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC42BPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC42BPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC42BPA Gene

Proteins for CDC42BPA Gene

  • Protein details for CDC42BPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VT25-MRCKA_HUMAN
    Recommended name:
    Serine/threonine-protein kinase MRCK alpha
    Protein Accession:
    Q5VT25
    Secondary Accessions:
    • O75039
    • Q59GZ1
    • Q5H9N9
    • Q5T797
    • Q5VT26
    • Q5VT27
    • Q86XX2
    • Q86XX3
    • Q99646

    Protein attributes for CDC42BPA Gene

    Size:
    1732 amino acids
    Molecular mass:
    197307 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homodimer and homotetramer via the coiled coil regions (PubMed:11283256). Interacts tightly with GTP-bound but not GDP-bound CDC42 (PubMed:9418861). Forms a tripartite complex with MYO18A and LURAP1 with the latter acting as an adapter connecting CDC42BPA and MYO18A. LURAP1 binding results in activation of CDC42BPA by abolition of its negative autoregulation (PubMed:18854160). Interacts with LURAP1. Interacts (via AGC-kinase C-terminal domain) with FAM89B/LRAP25 (via LRR repeat). Forms a tripartite complex with FAM89B/LRAP25 and LIMK1 (By similarity).
    SequenceCaution:
    • Sequence=BAD92205.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CDC42BPA Gene

neXtProt entry for CDC42BPA Gene

Post-translational modifications for CDC42BPA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CDC42BPA Gene

Domains & Families for CDC42BPA Gene

Graphical View of Domain Structure for InterPro Entry

Q5VT25

UniProtKB/Swiss-Prot:

MRCKA_HUMAN :
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily.
Family:
  • Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. DMPK subfamily.
genes like me logo Genes that share domains with CDC42BPA: view

Function for CDC42BPA Gene

Molecular function for CDC42BPA Gene

UniProtKB/Swiss-Prot 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 (PubMed:15723050, PubMed:9418861, PubMed:9092543). Regulates actin cytoskeletal reorganization via phosphorylation of PPP1R12C and MYL9/MLC2 (PubMed:21457715). In concert with MYO18A and LURAP1, is involved in modulating lamellar actomyosin retrograde flow that is crucial to cell protrusion and migration (PubMed:18854160). Phosphorylates: PPP1R12A, LIMK1 and LIMK2 (PubMed:11340065, PubMed:11399775). May play a role in TFRC-mediated iron uptake (PubMed:20188707). In concert with FAM89B/LRAP25 mediates the targeting of LIMK1 to the lamellipodium resulting in its activation and subsequent phosphorylation of CFL1 which is important for lamellipodial F-actin regulation (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
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. Inhibited by chelerythrine chloride.
UniProtKB/Swiss-Prot Induction:
Regulated by cellular iron levels.

Enzyme Numbers (IUBMB) for CDC42BPA Gene

Phenotypes From GWAS Catalog for CDC42BPA Gene

Gene Ontology (GO) - Molecular Function for CDC42BPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IDA 9092543
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IDA,IEA 9092543
GO:0005515 protein binding IEA,IPI 9418861
GO:0005524 ATP binding IDA,IEA 9092543
genes like me logo Genes that share ontologies with CDC42BPA: view
genes like me logo Genes that share phenotypes with CDC42BPA: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CDC42BPA Gene

Localization for CDC42BPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC42BPA Gene

Cytoplasm. Cell projection, lamellipodium. 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. Localizes in the lamellipodium in a FAM89B/LRAP25-dependent manner. {ECO:0000250 UniProtKB:O54874, ECO:0000250 UniProtKB:Q3UU96}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDC42BPA gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 3
cytosol 3
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDC42BPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005911 cell-cell junction ISS --
GO:0030027 lamellipodium ISS --
GO:0031252 cell leading edge ISS --
genes like me logo Genes that share ontologies with CDC42BPA: view

Pathways & Interactions for CDC42BPA Gene

genes like me logo Genes that share pathways with CDC42BPA: view

Pathways by source for CDC42BPA Gene

1 BioSystems pathway for CDC42BPA Gene
1 GeneGo (Thomson Reuters) pathway for CDC42BPA Gene
1 Qiagen pathway for CDC42BPA Gene

SIGNOR curated interactions for CDC42BPA Gene

Activates:

Gene Ontology (GO) - Biological Process for CDC42BPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IDA,IEA 9092543
GO:0016310 phosphorylation IEA --
GO:0016477 cell migration IMP 18854160
GO:0030036 actin cytoskeleton organization IEA --
GO:0031032 actomyosin structure organization IMP 18854160
genes like me logo Genes that share ontologies with CDC42BPA: view

Drugs & Compounds for CDC42BPA Gene

(4) Drugs for CDC42BPA Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
Guanosine triphosphate Experimental Pharma 0

(5) Additional Compounds for CDC42BPA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group B
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group C
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z,14Z)-icosa-11,14-dienoic acid
  • DAG(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2w6)
  • Diacylglycerol(15:0/0:0/20:2)
  • DAG(15:0/0:0/20:2n6)
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with CDC42BPA: view

Transcripts for CDC42BPA Gene

mRNA/cDNA for CDC42BPA Gene

Unigene Clusters for CDC42BPA Gene

CDC42 binding protein kinase alpha (DMPK-like):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CDC42BPA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a ·
SP1: - - -
SP2:
SP3: - -
SP4: - -
SP5: - - -
SP6:
SP7:

ExUns: 23b ^ 24 ^ 25a · 25b
SP1: -
SP2:
SP3: -
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for CDC42BPA Gene

GeneLoc Exon Structure for
CDC42BPA
ECgene alternative splicing isoforms for
CDC42BPA

Expression for CDC42BPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDC42BPA Gene

Protein differential expression in normal tissues from HIPED for CDC42BPA Gene

This gene is overexpressed in Breast (39.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC42BPA Gene



Protein tissue co-expression partners for CDC42BPA Gene

NURSA nuclear receptor signaling pathways regulating expression of CDC42BPA Gene:

CDC42BPA

SOURCE GeneReport for Unigene cluster for CDC42BPA Gene:

Hs.35433

mRNA Expression by UniProt/SwissProt for CDC42BPA Gene:

Q5VT25-MRCKA_HUMAN
Tissue specificity: Abundant in the heart, brain, skeletal muscle, kidney, and pancreas, with little or no expression in the lung and liver.

Evidence on tissue expression from TISSUES for CDC42BPA Gene

  • Nervous system(4.7)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with CDC42BPA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC42BPA Gene

Orthologs for CDC42BPA Gene

This gene was present in the common ancestor of animals.

Orthologs for CDC42BPA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CDC42BPA 34
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CDC42BPA 33
  • 92.52 (n)
dog
(Canis familiaris)
Mammalia CDC42BPA 34 33
  • 90.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cdc42bpa 16 34 33
  • 90.73 (n)
rat
(Rattus norvegicus)
Mammalia Cdc42bpa 33
  • 90.52 (n)
oppossum
(Monodelphis domestica)
Mammalia CDC42BPA 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDC42BPA 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDC42BPA 34 33
  • 82.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDC42BPA 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdc42bpa 33
  • 72.21 (n)
zebrafish
(Danio rerio)
Actinopterygii CDC42BPA (2 of 2) 34
  • 73 (a)
OneToMany
CDC42BPA (1 of 2) 34
  • 72 (a)
OneToMany
si:ch211-89p3.3 33
  • 68.65 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012090 33
  • 50.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta gek 34 33
  • 49.2 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mrck-1 34 33
  • 52.28 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2297 34
  • 51 (a)
OneToMany
Species where no ortholog for CDC42BPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CDC42BPA Gene

ENSEMBL:
Gene Tree for CDC42BPA (if available)
TreeFam:
Gene Tree for CDC42BPA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC42BPA: view image

Paralogs for CDC42BPA Gene

Paralogs for CDC42BPA Gene

(63) SIMAP similar genes for CDC42BPA Gene using alignment to 8 proteins:

  • MRCKA_HUMAN
  • B9EGA7_HUMAN
  • F5H5N0_HUMAN
  • H0Y5V1_HUMAN
  • H0Y6R0_HUMAN
  • H0Y6V3_HUMAN
  • H0Y7V8_HUMAN
  • Q8IWQ7_HUMAN

Pseudogenes.org Pseudogenes for CDC42BPA Gene

genes like me logo Genes that share paralogs with CDC42BPA: view

Variants for CDC42BPA Gene

Sequence variations from dbSNP and Humsavar for CDC42BPA Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
VAR_040830 A lung neuroendocrine carcinoma sample p.Glu50Lys
rs1000001399 -- 227,162,026(-) T/C intron_variant
rs1000007031 -- 227,167,568(-) C/T intron_variant
rs1000009738 -- 227,296,187(-) G/A/C intron_variant
rs1000013904 -- 226,996,345(-) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CDC42BPA Gene

Variant ID Type Subtype PubMed ID
dgv283n106 CNV deletion 24896259
dgv580n100 CNV loss 25217958
dgv581n100 CNV loss 25217958
esv1982712 CNV deletion 18987734
esv22606 CNV loss 19812545
esv2261733 CNV deletion 18987734
esv2476939 CNV deletion 19546169
esv2565209 CNV deletion 19546169
esv2628592 CNV deletion 19546169
esv2668013 CNV deletion 23128226
esv2668951 CNV deletion 23128226
esv2677762 CNV deletion 23128226
esv2724162 CNV deletion 23290073
esv2724173 CNV deletion 23290073
esv2724184 CNV deletion 23290073
esv3304704 CNV mobile element insertion 20981092
esv3307225 CNV mobile element insertion 20981092
esv3309042 CNV mobile element insertion 20981092
esv3310254 CNV mobile element insertion 20981092
esv3330543 CNV insertion 20981092
esv3340080 CNV insertion 20981092
esv33574 CNV loss 17666407
esv3370426 CNV insertion 20981092
esv3371169 CNV insertion 20981092
esv3424218 CNV insertion 20981092
esv3430743 CNV insertion 20981092
esv3547744 CNV deletion 23714750
esv3589024 CNV loss 21293372
esv3589026 CNV gain 21293372
esv3589027 CNV gain 21293372
esv3589029 CNV loss 21293372
esv3589030 CNV gain 21293372
esv4979 CNV loss 18987735
nsv1005811 CNV loss 25217958
nsv1011654 CNV loss 25217958
nsv1113223 CNV deletion 24896259
nsv468227 CNV loss 19166990
nsv473310 CNV novel sequence insertion 20440878
nsv508063 OTHER sequence alteration 20534489
nsv520923 CNV loss 19592680
nsv522490 CNV loss 19592680
nsv522990 CNV loss 19592680
nsv549269 CNV loss 21841781
nsv549270 CNV loss 21841781
nsv549271 CNV gain 21841781
nsv832792 CNV loss 17160897
nsv957531 CNV deletion 24416366
nsv998420 CNV loss 25217958

Variation tolerance for CDC42BPA Gene

Residual Variation Intolerance Score: 2.36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.46; 88.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC42BPA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC42BPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC42BPA Gene

Disorders for CDC42BPA Gene

MalaCards: The human disease database

(1) MalaCards diseases for CDC42BPA Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
myotonic dystrophy
  • myotonic dystrophy 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CDC42BPA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CDC42BPA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CDC42BPA Gene

Publications for CDC42BPA Gene

  1. Human MRCKalpha is regulated by cellular iron levels and interferes with transferrin iron uptake. (PMID: 20188707) Cmejla R … Vyoral D (Biochemical and biophysical research communications 2010) 3 4 22 58
  2. A tripartite complex containing MRCK modulates lamellar actomyosin retrograde flow. (PMID: 18854160) Tan I … Leung T (Cell 2008) 3 4 22 58
  3. Cdc42-MRCK and Rho-ROCK signalling cooperate in myosin phosphorylation and cell invasion. (PMID: 15723050) Wilkinson S … Marshall CJ (Nature cell biology 2005) 3 4 22 58
  4. Genomic organization of human myotonic dystrophy kinase-related Cdc42-binding kinase alpha reveals multiple alternative splicing and functional diversity. (PMID: 12568720) Tan I … Leung T (Gene 2003) 3 4 22 58
  5. Intermolecular and intramolecular interactions regulate catalytic activity of myotonic dystrophy kinase-related Cdc42-binding kinase alpha. (PMID: 11283256) Tan I … Leung T (Molecular and cellular biology 2001) 3 4 22 58

Products for CDC42BPA Gene