CDC42EP2

CDC42 effector protein 2, the group of CDC42 effector proteins

Basic information

Region (hg38): 11:65314866-65322417

Links

ENSG00000149798NCBI:10435OMIM:606132HGNC:16263Uniprot:O14613AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CDC42EP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDC42EP2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
missense
12
clinvar
12
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 12 0 1

Variants in CDC42EP2

This is a list of pathogenic ClinVar variants found in the CDC42EP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
11-65320929-C-T not specified Uncertain significance (Jun 07, 2023)2520622
11-65320963-G-A not specified Uncertain significance (Apr 19, 2023)2512114
11-65321064-T-C not specified Uncertain significance (Dec 14, 2021)2267141
11-65321080-A-G not specified Uncertain significance (May 30, 2024)3265017
11-65321136-G-A not specified Uncertain significance (May 27, 2022)2292154
11-65321147-C-G not specified Uncertain significance (Feb 14, 2023)2483422
11-65321157-C-T not specified Uncertain significance (Jul 14, 2022)2403429
11-65321158-G-C not specified Uncertain significance (May 28, 2024)3265016
11-65321163-G-A not specified Uncertain significance (Apr 07, 2022)2391795
11-65321177-G-C Benign (Jul 23, 2018)785356
11-65321293-G-A not specified Uncertain significance (Mar 24, 2023)2529124
11-65321308-C-T not specified Uncertain significance (Oct 05, 2022)2317035
11-65321379-A-T not specified Uncertain significance (Jan 16, 2024)3140928
11-65321406-G-A not specified Uncertain significance (Mar 05, 2024)3140929
11-65321418-C-G not specified Uncertain significance (Feb 12, 2024)3140930
11-65321431-G-C not specified Uncertain significance (Apr 09, 2024)3265015

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CDC42EP2protein_codingprotein_codingENST00000544348 17612
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.03930.6621257190211257400.0000835
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5221191360.8740.000008341356
Missense in Polyphen4860.9630.78736622
Synonymous0.8225462.30.8670.00000410473
Loss of Function0.45122.820.7101.18e-737

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004200.000420
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004710.0000462
European (Non-Finnish)0.00007050.0000703
Middle Eastern0.000.00
South Asian0.00006530.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
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|PubMed:10490598, ECO:0000269|PubMed:11035016}.;
Pathway
Signal Transduction;MAPK6/MAPK4 signaling;MAPK family signaling cascades (Consensus)

Recessive Scores

pRec
0.110

Intolerance Scores

loftool
0.349
rvis_EVS
0.11
rvis_percentile_EVS
61.73

Haploinsufficiency Scores

pHI
0.128
hipred
Y
hipred_score
0.621
ghis
0.430

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.777

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Cdc42ep2
Phenotype

Gene ontology

Biological process
actin filament organization;Rho protein signal transduction;regulation of cell shape;regulation of signaling receptor activity;actin cytoskeleton organization;positive regulation of actin filament polymerization;positive regulation of pseudopodium assembly;positive regulation of protein complex assembly;positive regulation of GTPase activity;cellular response to interferon-gamma
Cellular component
cytoplasm;cytosol;plasma membrane;endomembrane system;microtubule cytoskeleton;membrane;phagocytic vesicle
Molecular function
opioid peptide activity;GTPase activator activity;protein binding;GTP-Rho binding