Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10602
Gene name Gene Name - the full gene name approved by the HGNC.
CDC42 effector protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDC42EP3
Synonyms (NCBI Gene) Gene synonyms aliases
BORG2, CEP3, UB1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p22.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of a small family of guanosine triphosphate (GTP) metabolizing proteins that contain a CRIB (Cdc42, Rac interactive binding) domain. Members of this family of proteins act as effectors of CDC42 function. The encoded protein is i
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022352 hsa-miR-124-3p Microarray 18668037
MIRT023231 hsa-miR-122-5p Microarray 17612493
MIRT440970 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440970 hsa-miR-218-5p HITS-CLIP 23212916
MIRT878126 hsa-miR-202 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 24947832, 29513927, 32296183
GO:0005519 Function Cytoskeletal regulatory protein binding TAS 11035016
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606133 16943 ENSG00000163171
Protein
UniProt ID Q9UKI2
Protein name Cdc42 effector protein 3 (Binder of Rho GTPases 2) (MSE55-related Cdc42-binding protein)
Protein function Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. {ECO:0000269|PubMed:10490598, ECO:0000269
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00786 PBD 30 86 P21-Rho-binding domain Domain
PF14957 BORG_CEP 102 253 Cdc42 effector Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the heart and weakly in the brain. {ECO:0000269|PubMed:10490598}.
Sequence
Sequence length 254
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    MAPK6/MAPK4 signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Breast Cancer Breast cancer N/A N/A GWAS
Ischemic Stroke Ischemic stroke N/A N/A GWAS
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Non Small Cell Lung Associate 20651054
Carcinoma Squamous Cell Associate 25022385
Glioma Associate 35365622
Hypoxia Brain Associate 30226555
Inflammatory Breast Neoplasms Associate 31532791
Leukemia Lymphocytic Chronic B Cell Inhibit 23349302
Lung Neoplasms Associate 19547694
Monosomy Stimulate 22511634
Neoplasms Associate 27248291
Neoplasms Stimulate 35365622