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Aliases for CDC42 Gene

Aliases for CDC42 Gene

  • Cell Division Cycle 42 2 3 5
  • GTP Binding Protein, 25kDa 2 3
  • G25K GTP-Binding Protein 3 4
  • DJ224A6.1.1 (Cell Division Cycle 42 (GTP-Binding Protein, 25kD)) 3
  • DJ224A6.1.2 (Cell Division Cycle 42 (GTP-Binding Protein, 25kD)) 3
  • Cell Division Cycle 42 (GTP Binding Protein, 25kDa) 2
  • Cell Division Cycle 42 (GTP-Binding Protein, 25kD) 2
  • Cell Division Control Protein 42 Homolog 3
  • Small GTP Binding Protein CDC42 3
  • Growth-Regulating Protein 3
  • CDC42Hs 3
  • G25K 3
  • TKS 3

External Ids for CDC42 Gene

Previous GeneCards Identifiers for CDC42 Gene

  • GC01P021948
  • GC01P021414
  • GC01P021525
  • GC01P021848
  • GC01P021991
  • GC01P022235
  • GC01P022379
  • GC01P020622

Summaries for CDC42 Gene

Entrez Gene Summary for CDC42 Gene

  • The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]

GeneCards Summary for CDC42 Gene

CDC42 (Cell Division Cycle 42) is a Protein Coding gene. Diseases associated with CDC42 include Takenouchi-Kosaki Syndrome and Temperature-Sensitive Lethal Mutation. Among its related pathways are ERK Signaling and p38 MAPK Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase binding. An important paralog of this gene is RAC1.

UniProtKB/Swiss-Prot for CDC42 Gene

  • Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase. Plays a role in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia. Mediates CDC42-dependent cell migration. Required for DOCK10-mediated spine formation in Purkinje cells and hippocampal neurons. Facilitates filopodia formation upon DOCK11-activation (By similarity). Also plays a role in phagocytosis through organization of the F-actin cytoskeleton associated with forming phagocytic cups.

Gene Wiki entry for CDC42 Gene

Additional gene information for CDC42 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDC42 Gene

Genomics for CDC42 Gene

GeneHancer (GH) Regulatory Elements for CDC42 Gene

Promoters and enhancers for CDC42 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
GH01J022051 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 656.9 +0.7 680 3.1 MLX DMAP1 IRF4 YY1 ZNF213 E2F8 SP3 NFYC MEF2D ZNF610 CDC42 ZBTB40 KDM1A USP48 LINC00339 CDC42-IT1 NBPF3 ENSG00000271428 NBPF2P LINC01635
GH01J021779 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.1 -270.1 -270093 6.2 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MEF2D USP48 ZBTB40 CDC42-IT1 HP1BP3 ENSG00000271428 NBPF3 CDC42 EIF4G3 NBPF2P ZBTB40-IT1
GH01J023018 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11 +967.4 967396 3.2 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 KDM1A SRSF10 ZBTB40 HNRNPR LINC01355 CDC42-IT1 LACTBL1 ELOA CDC42 ENSG00000271428
GH01J022023 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 11.3 -26.9 -26889 3.8 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 MEF2D LINC00339 LINC01635 ZBTB40 CDC42-IT1 KDM1A USP48 ENSG00000271428 NBPF3 HSPG2 CDC42
GH01J022018 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10 -33.2 -33201 1.9 HDGF PKNOX1 ATF1 SMAD1 ARNT SIN3A ZNF766 E2F8 FOS ATF7 LINC00339 HSPG2 WNT4 CDC42 ZBTB40 LINC01635 RNU6-776P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CDC42 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDC42 gene promoter:
  • CREB
  • c-Jun
  • deltaCREB
  • ATF-2

Genomic Locations for CDC42 Gene

Genomic Locations for CDC42 Gene
chr1:22,052,627-22,092,946
(GRCh38/hg38)
Size:
40,320 bases
Orientation:
Plus strand
chr1:22,379,120-22,419,437
(GRCh37/hg19)
Size:
40,318 bases
Orientation:
Plus strand

Genomic View for CDC42 Gene

Genes around CDC42 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDC42 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDC42 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDC42 Gene

Proteins for CDC42 Gene

  • Protein details for CDC42 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60953-CDC42_HUMAN
    Recommended name:
    Cell division control protein 42 homolog
    Protein Accession:
    P60953
    Secondary Accessions:
    • P21181
    • P25763
    • Q7L8R5
    • Q9UDI2

    Protein attributes for CDC42 Gene

    Size:
    191 amino acids
    Molecular mass:
    21259 Da
    Quaternary structure:
    • Interacts with CDC42EP1, CDC42EP2, CDC42EP3, CDC42EP4, CDC42EP5, CDC42SE1, CDC42SE2, PARD6A, PARD6B and PARD6G (in a GTP-dependent manner) (PubMed:10490598, PubMed:10816584, PubMed:10954424, PubMed:11260256). Interacts with activated CSPG4 and with BAIAP2 (PubMed:10587647, PubMed:11130076). Interacts with activated CSPG4 and with BAIAP2 (By similarity). Interacts with DOCK11/Zizimin2; the interaction activates CDC42 by exchanging GDP for GTP (By similarity). Interacts with DOCK9; the interaction activates CDC42 by exchanging GDP for GTP (PubMed:12172552, PubMed:19745154). Interacts with DOCK8 (via DHR-2 domain); the interaction activates CDC42 by exchanging GDP for GTP (PubMed:12172552). Interacts with IQGAP1 (By similarity). Interacts with NET1 and ARHGAP33/TCGAP (By similarity). Part of a complex with PARD3, PARD6A or PARD6B and PRKCI or PRKCZ (PubMed:11260256). The GTP-bound form interacts with CCPG1 (By similarity). Interacts with USP6 (PubMed:12612085). Interacts with NEK6 (PubMed:20873783). Part of a collagen stimulated complex involved in cell migration composed of CDC42, CRK, TNK2 and BCAR1/p130cas (PubMed:17038317). Interacts with ITGB1BP1 (PubMed:11807099). Interacts with ARHGDIA; this interaction inactivates and stabilizes CDC42 (PubMed:23434736). Interacts with ARHGDIB; this maintains CDC42 in the inactive, GDP-bound form (PubMed:7512369). Interacts (in GTP-bound form) with FNBP1L and ABI1, but only in the presence of FNBP1L (PubMed:19798448). May interact with ARHGEF16; responsible for the activation of CDC42 by the viral protein HPV16 E6 (PubMed:21139582).

    Three dimensional structures from OCA and Proteopedia for CDC42 Gene

    Alternative splice isoforms for CDC42 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDC42 Gene

Post-translational modifications for CDC42 Gene

  • (Microbial infection) AMPylation at Tyr-32 and Thr-35 are mediated by bacterial enzymes in case of infection by H.somnus and V.parahaemolyticus, respectively. AMPylation occurs in the effector region and leads to inactivation of the GTPase activity by preventing the interaction with downstream effectors, thereby inhibiting actin assembly in infected cells. It is unclear whether some human enzyme mediates AMPylation; FICD has such ability in vitro but additional experiments remain to be done to confirm results in vivo.
  • Phosphorylated by SRC in an EGF-dependent manner, this stimulates the binding of the Rho-GDP dissociation inhibitor RhoGDI.
  • (Microbial infection) Glycosylated at Tyr-32 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of CDC42 and leads to actin disassembly.
  • Ubiquitination at Lys184, posLast=183183, Lys153, Lys144, Lys133, and posLast=107107
  • Modification sites at PhosphoSitePlus

Other Protein References for CDC42 Gene

No data available for DME Specific Peptides for CDC42 Gene

Domains & Families for CDC42 Gene

Gene Families for CDC42 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CDC42 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P60953

UniProtKB/Swiss-Prot:

CDC42_HUMAN :
  • Belongs to the small GTPase superfamily. Rho family. CDC42 subfamily.
Family:
  • Belongs to the small GTPase superfamily. Rho family. CDC42 subfamily.
genes like me logo Genes that share domains with CDC42: view

Function for CDC42 Gene

Molecular function for CDC42 Gene

UniProtKB/Swiss-Prot Function:
Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase. Plays a role in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia. Mediates CDC42-dependent cell migration. Required for DOCK10-mediated spine formation in Purkinje cells and hippocampal neurons. Facilitates filopodia formation upon DOCK11-activation (By similarity). Also plays a role in phagocytosis through organization of the F-actin cytoskeleton associated with forming phagocytic cups.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase.
GENATLAS Biochemistry:
GTP binding protein 25k,homolog to yeast cdc42,brain,isoform,promoting cell cycle progression from G1 to S,activating the Jun N-terminal kinase/stress activated protein kinase required for cell polarization,stimulating the actin-depolymerizing activity of WASL,regulating in cooperation with WASP podosomeal adhesion structure in primary macrophages

Phenotypes From GWAS Catalog for CDC42 Gene

Gene Ontology (GO) - Molecular Function for CDC42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity TAS 11035016
GO:0004674 protein serine/threonine kinase activity TAS --
GO:0005515 protein binding IPI 7493928
GO:0005525 GTP binding IDA 8625410
genes like me logo Genes that share ontologies with CDC42: view
genes like me logo Genes that share phenotypes with CDC42: view

Human Phenotype Ontology for CDC42 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

  • Addgene plasmids for CDC42

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CDC42 Gene

Localization for CDC42 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDC42 Gene

Cell membrane; Lipid-anchor; Cytoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Midbody. Note=Localizes to spindle during prometaphase cells. Moves to the central spindle as cells progressed through anaphase to telophase (PubMed:15642749). Localizes at the end of cytokinesis in the intercellular bridge formed between two daughter cells (PubMed:15642749). Its localization is regulated by the activities of guanine nucleotide exchange factor ECT2 and GTPase activating protein RACGAP1 (PubMed:15642749). Colocalizes with NEK6 in the centrosome (PubMed:20873783). In its active GTP-bound form localizes to the leading edge membrane of migrating dendritic cells (By similarity). {ECO:0000250 UniProtKB:P60766, ECO:0000269 PubMed:15642749, ECO:0000269 PubMed:20873783}.

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 CDC42 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 4
nucleus 3
mitochondrion 2
endosome 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (4)
  • Microtubules (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDC42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane ISS --
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IDA,IEA 11260256
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005813 colocalizes_with centrosome IDA 20873783
genes like me logo Genes that share ontologies with CDC42: view

Pathways & Interactions for CDC42 Gene

genes like me logo Genes that share pathways with CDC42: view

Pathways by source for CDC42 Gene

SIGNOR curated interactions for CDC42 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for CDC42 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0006897 endocytosis IBA --
GO:0006911 phagocytosis, engulfment IMP 26465210
GO:0007015 actin filament organization IMP 26465210
GO:0007030 Golgi organization ISS --
genes like me logo Genes that share ontologies with CDC42: view

Drugs & Compounds for CDC42 Gene

(43) Drugs for CDC42 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma Target 0
Aminophosphonic Acid-Guanylate Ester Experimental Pharma Target 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
ML 141 Pharma 0

(25) Additional Compounds for CDC42 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(2) ApexBio Compounds for CDC42 Gene

Compound Action Cas Number
ML 141 71203-35-5
ZCL278 Selective Cdc42 inhibitor 587841-73-4
genes like me logo Genes that share compounds with CDC42: view

Drug Products

Transcripts for CDC42 Gene

mRNA/cDNA for CDC42 Gene

Unigene Clusters for CDC42 Gene

Cell division cycle 42:
Representative Sequences:

Clone Products

  • Addgene plasmids for CDC42

Alternative Splicing Database (ASD) splice patterns (SP) for CDC42 Gene

No ASD Table

Relevant External Links for CDC42 Gene

GeneLoc Exon Structure for
CDC42
ECgene alternative splicing isoforms for
CDC42

Expression for CDC42 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDC42 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDC42 Gene

This gene is overexpressed in Whole Blood (x4.8).

Protein differential expression in normal tissues from HIPED for CDC42 Gene

This gene is overexpressed in Lymph node (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CDC42 Gene



Protein tissue co-expression partners for CDC42 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CDC42 Gene:

CDC42

SOURCE GeneReport for Unigene cluster for CDC42 Gene:

Hs.467637

Evidence on tissue expression from TISSUES for CDC42 Gene

  • Nervous system(5)
  • Blood(4.8)
  • Kidney(4.2)
  • Lung(4.2)
  • Skin(3.8)
  • Pancreas(3.6)
  • Heart(3.4)
  • Intestine(3.3)
  • Muscle(2.9)
  • Spleen(2.9)
  • Adrenal gland(2.7)
  • Bone marrow(2.7)
  • Liver(2.7)
  • Lymph node(2.7)
  • Stomach(2.5)
  • Eye(2.4)
genes like me logo Genes that share expression patterns with CDC42: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CDC42 Gene

Orthologs for CDC42 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CDC42 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 86 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Cdc42 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CDC42 34 33
  • 99.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CDC42 34 33
  • 97.38 (n)
OneToMany
-- 34
  • 97 (a)
OneToMany
-- 34
  • 92 (a)
OneToMany
-- 34
  • 72 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CDC42 34 33
  • 96.16 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDC42 34
  • 90 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDC42 34 33
  • 88.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CDC42 34
  • 100 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cdc42 33
  • 84.12 (n)
Str.6147 33
African clawed frog
(Xenopus laevis)
Amphibia MGC52619 33
zebrafish
(Danio rerio)
Actinopterygii cdc42 34
  • 99 (a)
OneToMany
cdc42l 34 33
  • 73.47 (n)
OneToMany
cdc42l2 34
  • 70 (a)
OneToMany
CDC42 (4 of 4) 34
  • 20 (a)
OneToMany
zgc63918 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4093 33
African malaria mosquito
(Anopheles gambiae)
Insecta CDC42_ANOGA 33
  • 73.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cdc42 34 35 33
  • 72.43 (n)
OneToOne
Mtl 35
  • 63 (a)
RhoL 35
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea cdc-42 34 35 33
  • 71.9 (n)
OneToOne
mig-2 35
  • 59 (a)
F22E12.2 35
  • 45 (a)
Y32F6B.3 35
  • 44 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A04213g 33
  • 69.46 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC42 36 34 33
  • 68.41 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL093W 33
  • 65.79 (n)
rice
(Oryza sativa)
Liliopsida Os01g0229400 33
  • 51.47 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7317 34
  • 78 (a)
OneToOne
Cin.11608 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cdc42 33
  • 69.28 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU06454 33
  • 65.61 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11608 33
Species where no ortholog for CDC42 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • 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 CDC42 Gene

ENSEMBL:
Gene Tree for CDC42 (if available)
TreeFam:
Gene Tree for CDC42 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CDC42: view image

Paralogs for CDC42 Gene

Paralogs for CDC42 Gene

genes like me logo Genes that share paralogs with CDC42: view

Variants for CDC42 Gene

Sequence variations from dbSNP and Humsavar for CDC42 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs797044870 likely-pathogenic, Inborn genetic diseases 22,086,456(+) A/G coding_sequence_variant, missense_variant
rs797044916 likely-pathogenic, Inborn genetic diseases 22,078,546(+) A/G coding_sequence_variant, missense_variant
rs864309721 conflicting-interpretations-of-pathogenicity, pathogenic, Takenouchi-Kosaki syndrome, not provided, Takenouchi-Kosaki syndrome (TKS) [MIM:616737] 22,086,451(+) A/G coding_sequence_variant, missense_variant
rs1057518022 likely-pathogenic, not provided 22,081,740(+) G/A coding_sequence_variant, missense_variant
rs1064795845 likely-pathogenic, not provided 22,078,540(+) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CDC42 Gene

Variant ID Type Subtype PubMed ID
esv2758927 CNV loss 17122850
nsv528664 CNV gain 19592680
nsv545745 CNV loss 21841781
nsv545746 CNV loss 21841781
nsv6076 CNV insertion 18451855
nsv834413 CNV loss 17160897
nsv945817 CNV duplication 23825009
nsv945818 CNV duplication 23825009
nsv945819 CNV duplication 23825009
nsv954904 CNV duplication 24416366

Variation tolerance for CDC42 Gene

Residual Variation Intolerance Score: 36.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDC42 Gene

Human Gene Mutation Database (HGMD)
CDC42
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDC42

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDC42 Gene

Disorders for CDC42 Gene

MalaCards: The human disease database

(16) MalaCards diseases for CDC42 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CDC42 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CDC42_HUMAN
  • Takenouchi-Kosaki syndrome (TKS) [MIM:616737]: A syndrome characterized by macrothrombocytopenia, lymphedema, mental retardation, developmental delay, and distinctive facial features. {ECO:0000269 PubMed:26386261, ECO:0000269 PubMed:26708094}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CDC42

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CDC42: view

No data available for Genatlas for CDC42 Gene

Publications for CDC42 Gene

  1. Melanoma chondroitin sulphate proteoglycan regulates cell spreading through Cdc42, Ack-1 and p130cas. (PMID: 10587647) Eisenmann KM … Iida J (Nature cell biology 1999) 3 4 22 58
  2. Identification of the binding surface on Cdc42Hs for p21-activated kinase. (PMID: 9760238) Guo W … Oswald RE (Biochemistry 1998) 3 4 22 58
  3. Molecular cloning and expression of a G25K cDNA, the human homolog of the yeast cell cycle gene CDC42. (PMID: 2122236) Munemitsu S … Polakis P (Molecular and cellular biology 1990) 2 3 4 58
  4. Molecular cloning of the gene for the human placental GTP-binding protein Gp (G25K): identification of this GTP-binding protein as the human homolog of the yeast cell-division-cycle protein CDC42. (PMID: 2124704) Shinjo K … Cerione RA (Proceedings of the National Academy of Sciences of the United States of America 1990) 2 3 4 58
  5. Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. (PMID: 26708094) Takenouchi T … Kosaki K (American journal of medical genetics. Part A 2016) 3 4 58

Products for CDC42 Gene