Gene Gene information from NCBI Gene database.
Entrez ID 56882
Gene name CDC42 small effector 1
Gene symbol CDC42SE1
Synonyms (NCBI Gene)
SCIP1SPEC1
Chromosome 1
Chromosome location 1q21.3
miRNA miRNA information provided by mirtarbase database.
1087
miRTarBase ID miRNA Experiments Reference
MIRT020379 hsa-miR-29c-3p Sequencing 20371350
MIRT024042 hsa-miR-1-3p Microarray 18668037
MIRT049635 hsa-miR-92a-3p CLASH 23622248
MIRT044634 hsa-miR-320a CLASH 23622248
MIRT502933 hsa-miR-29a-3p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005095 Function GTPase inhibitor activity TAS 10816584
GO:0005515 Function Protein binding IPI 20936779, 28514442, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619456 17719 ENSG00000197622
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRR8
Protein name CDC42 small effector protein 1 (CDC42-binding protein SCIP1) (Small effector of CDC42 protein 1)
Protein function Probably involved in the organization of the actin cytoskeleton by acting downstream of CDC42, inducing actin filament assembly. Alters CDC42-induced cell shape changes. In activated T-cells, may play a role in CDC42-mediated F-actin accumulatio
Family and domains
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in T-lymphocytes, dendritic and whole blood cells. {ECO:0000269|PubMed:15840583}.
Sequence
MSEFWHKLGCCVVEKPQPKKKRRRIDRTMIGEPMNFVHLTHIGSGEMGAGDGLAMTGAVQ
EQMRSKGNRDRPWSNSRGL
Sequence length 79
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Malformations of Cortical Development, Group II Malformation of cortical development BEFREE 31742346
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of skin Skin cancer BEFREE 30717410
★☆☆☆☆
Found in Text Mining only