CDC42EP2 (CDC42 effector protein 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 10435 |
| Gene name | CDC42 effector protein 2 |
| Gene symbol | CDC42EP2 |
| Synonyms (NCBI Gene) |
BORG1CEP2
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
245
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in the heart. Weakly expressed in the pancreas and liver. {ECO:0000269|PubMed:10490598}. | ||||||||||||||||||||
| Sequence |
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| Sequence length | 210 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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