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CDC42 (cell division cycle 42)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
998
Gene nameGene Name - the full gene name approved by the HGNC.
Cell division cycle 42
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CDC42
SynonymsGene synonyms aliases
CDC42Hs, G25K, TKS
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.12
SummarySummary of gene provided in NCBI Entrez 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 simila
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs797044870 A>G Pathogenic Missense variant, coding sequence variant
rs797044916 A>G Pathogenic Missense variant, coding sequence variant
rs864309721 A>G Pathogenic-likely-pathogenic, pathogenic Missense variant, coding sequence variant
rs1057518022 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1064795845 T>C Likely-pathogenic, pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000636 hsa-miR-224-5p Luciferase reporter assay, qRT-PCR, Western blot 20023705
MIRT004037 hsa-miR-185-5p Luciferase reporter assay, qRT-PCR, Western blot 21186079
MIRT004037 hsa-miR-185-5p Luciferase reporter assay, qRT-PCR, Western blot 21186079
MIRT005485 hsa-miR-137 Luciferase reporter assay, Western blot 20473940
MIRT005964 hsa-miR-216a-5p Immunohistochemistry, Luciferase reporter assay, Western blot 21149267
Transcription factors
Transcription factor Regulation Reference
PTTG1 Activation 22081074
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane ISS
GO:0000322 Component Storage vacuole IEA
GO:0002040 Process Sprouting angiogenesis IEA
GO:0003161 Process Cardiac conduction system development IEA
GO:0003924 Function GTPase activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P60953
Protein name Cell division control protein 42 homolog (EC 3.6.5.2) (G25K GTP-binding protein)
Protein 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 pr
PDB 1A4R , 1AJE , 1AM4 , 1AN0 , 1CEE , 1CF4 , 1DOA , 1E0A , 1EES , 1GRN , 1GZS , 1KI1 , 1KZ7 , 1KZG , 1NF3 , 2ASE , 2DFK , 2KB0 , 2NGR , 2ODB , 2QRZ , 2WM9 , 2WMN , 2WMO , 3GCG , 3QBV , 3VHL , 4DID , 4ITR , 4JS0 , 4YC7 , 4YDH , 5CJP , 5FI1 , 5HZK , 5UPK , 5UPL , 6AJ4 , 6AJL , 6SIU , 6SUP , 6TKY , 6TKZ , 7S0Y , 8I5F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras
5 178
Ras family
Domain
Sequence
Sequence length 191
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Chemokine signaling pathway
Endocytosis
Axon guidance
VEGF signaling pathway
Focal adhesion
Adherens junction
Tight junction
T cell receptor signaling pathway
Fc gamma R-mediated phagocytosis
Leukocyte transendothelial migration
Neurotrophin signaling pathway
Regulation of actin cytoskeleton
GnRH signaling pathway
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Bacterial invasion of epithelial cells
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Human papillomavirus infection
Pathways in cancer
Viral carcinogenesis
Proteoglycans in cancer
Renal cell carcinoma
Pancreatic cancer
Lipid and atherosclerosis
  GPVI-mediated activation cascade
EGFR downregulation
Rho GTPase cycle
Regulation of actin dynamics for phagocytic cup formation
CD28 dependent Vav1 pathway
EPHB-mediated forward signaling
DCC mediated attractive signaling
VEGFA-VEGFR2 Pathway
Myogenesis
RHO GTPases activate KTN1
RHO GTPases activate IQGAPs
RHO GTPases activate PAKs
RHO GTPases Activate WASPs and WAVEs
RHO GTPases Activate Formins
MAPK6/MAPK4 signaling
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
G beta:gamma signalling through CDC42
FCGR3A-mediated phagocytosis
Factors involved in megakaryocyte development and platelet production
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Carcinoma Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 16316942
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Unknown
Disease name Disease term dbSNP ID References
Adrenal cancer Adrenal Cancer 24747643
Adrenal neoplasia Adrenal Gland Neoplasms 24747643
Anaplastic carcinoma Anaplastic carcinoma 16316942
Cerebellar atrophy Cerebellar atrophy

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