Gene Gene information from NCBI Gene database.
Entrez ID 10435
Gene name CDC42 effector protein 2
Gene symbol CDC42EP2
Synonyms (NCBI Gene)
BORG1CEP2
Chromosome 11
Chromosome location 11q13.1
Summary CDC42, a small Rho GTPase, regulates the formation of F-actin-containing structures through its interaction with the downstream effector proteins. The protein encoded by this gene is a member of the Borg family of CDC42 effector proteins. Borg family prot
miRNA miRNA information provided by mirtarbase database.
245
miRTarBase ID miRNA Experiments Reference
MIRT878031 hsa-miR-103a CLIP-seq
MIRT878032 hsa-miR-107 CLIP-seq
MIRT878033 hsa-miR-1197 CLIP-seq
MIRT878034 hsa-miR-1226 CLIP-seq
MIRT878035 hsa-miR-1252 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0001515 Function Opioid peptide activity IEA
GO:0005096 Function GTPase activator activity IMP 10430899
GO:0005515 Function Protein binding IPI 11584266, 20936779, 21988832, 25416956, 26871637, 31413325, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 11035016
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606132 16263 ENSG00000149798
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14613
Protein name Cdc42 effector protein 2 (Binder of Rho GTPases 1)
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 in a CDC42-dependent manner. {ECO:0000269|
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00786 PBD 29 87 P21-Rho-binding domain Domain
PF14957 BORG_CEP 103 154 Cdc42 effector Family
PF14957 BORG_CEP 153 202 Cdc42 effector Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the heart. Weakly expressed in the pancreas and liver. {ECO:0000269|PubMed:10490598}.
Sequence
MSTKVPIYLKRGSRKGKKEKLRDLLSSDMISPPLGDFRHTIHIGSGGGSDMFGDISFLQG
KFHLLPGTMVEGPEEDGTFDLPFQFTR
TATVCGRELPDGPSPLLKNAISLPVIGGPQALT
LPTAQAPPKPPRLHLETPQPSPQEGGSVDIWR
IPETGSPNSGLTPESGAEEPFLSNASSL
LSLHVDLGPSILDDVLQIMDQD
LDSMQIPT
Sequence length 210
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    MAPK6/MAPK4 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HYPERURICEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Gastrointestinal Stromal Tumors Gastrointestinal stromal tumor Pubtator 25987131 Associate
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 35309336 Associate
★☆☆☆☆
Found in Text Mining only