Gene Gene information from NCBI Gene database.
Entrez ID 56990
Gene name CDC42 small effector 2
Gene symbol CDC42SE2
Synonyms (NCBI Gene)
SPEC2
Chromosome 5
Chromosome location 5q31.1
miRNA miRNA information provided by mirtarbase database.
404
miRTarBase ID miRNA Experiments Reference
MIRT039379 hsa-miR-421 CLASH 23622248
MIRT039379 hsa-miR-421 CLASH 23622248
MIRT256320 hsa-miR-6838-5p PAR-CLIP 21572407
MIRT256305 hsa-miR-15a-5p PAR-CLIP 21572407
MIRT256309 hsa-miR-15b-5p PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0001891 Component Phagocytic cup IEA
GO:0005515 Function Protein binding IPI 10816584
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
619457 18547 ENSG00000158985
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRR3
Protein name CDC42 small effector protein 2 (Small effector of CDC42 protein 2)
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

Pfam

Accession ID Position in sequence Description Type
PF00786 PBD 28 52 P21-Rho-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at higher level in T-lymphocytes. Highly expressed in CCRF-CEM T-lymphocytes, Jurkat T-lymphocytes, and Raji B-lymphocytes compared (at protein level). {ECO:0000269|PubMed:15840583}.
Sequence
MSEFWLCFNCCIAEQPQPKRRRRIDRSMIGEPTNFVHTAHVGSGDLFSGMNSVSSIQNQM
QSKGGYGGGMPANVQMQLVDTKAG
Sequence length 84
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE 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
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 25778476
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 37280243 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 26515597
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 26515597 Associate
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn Disease GWASCAT_DG 26192919
★☆☆☆☆
Found in Text Mining only
Endometrial adenocarcinoma Endometrial Adenocarcinoma BEFREE 10656459
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 10656459, 19476987, 22327423, 24434058, 28545688, 30107158
★☆☆☆☆
Found in Text Mining only
Inflammatory Bowel Diseases Inflammatory Bowel Disease GWASCAT_DG 26192919
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of endometrium Endometrial Cancer BEFREE 10656459, 19476987, 22327423, 24434058, 28545688, 30107158
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia BEFREE 17030554, 22205969
★★☆☆☆
Found in Text Mining + Unknown/Other Associations