CDC42EP2

Summary

CDC42EP2 (CDC42 effector protein 2, HGNC:16263) is a protein-coding gene on chromosome 11q13.1, encoding Cdc42 effector protein 2 (O14613). Probably involved in the organization of the actin cytoskeleton.

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 proteins contain a CRIB (Cdc42/Rac interactive-binding) domain. They bind to, and negatively regulate the function of CDC42. Coexpression of this protein with CDC42 suggested a role of this protein in actin filament assembly and cell shape control.

Source: NCBI Gene 10435 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 33 total
• GTEx eGene: eQTL in 14 tissues, sQTL in 32 (q < 0.05)
• Constraint (gnomAD): pLI 0.04 (LoF-tolerant), LOEUF 1.36 (unconstrained)
• MANE Select transcript: NM_006779

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16263
Approved symbol	CDC42EP2
Name	CDC42 effector protein 2
Location	11q13.1
Locus type	gene with protein product
Status	Approved
Aliases	CEP2, BORG1
Ensembl gene	ENSG00000149798
Ensembl biotype	protein_coding
OMIM	606132
Entrez	10435

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 11 protein_coding

MANE Select: ENST00000279249

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 1, TSL 3: 1

ENST00000279249, ENST00000533419, ENST00000905621, ENST00000905622, ENST00000905623, ENST00000911954, ENST00000911955, ENST00000911956, ENST00001126984, ENST00001126985, ENST00001144293

RefSeq mRNA: 1 — MANE Select: NM_006779 NM_006779

CCDS: CCDS8099

Canonical transcript exons

ENST00000279249 — 2 exons

Exon	Start	End
ENSE00000992560	65320544	65322417
ENSE00001063655	65314866	65314954

Expression profiles

Bgee: expression breadth ubiquitous, 136 present calls, max score 92.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.7550 / max 325.6449, expressed in 1715 samples.

Highest expression (Bgee): apex of heart, omental fat pad, lower esophagus muscularis layer, lower esophagus, mucosa of stomach.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CDC42EP2 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 14 tissues and its splicing (sQTL) in 32 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 46 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Esophagus Muscularis	sqtl	6.0e-19	+0.85	11:65297219:G:A
Testis	sqtl	1.6e-18	+1.02	11:65297219:G:A
Esophagus Gastroesophageal Junction	sqtl	9.0e-13	+0.83	11:65324367:C:A
Nerve Tibial	sqtl	2.3e-09	+0.52	11:65318674:C:T
Cells EBV-transformed lymphocytes	sqtl	2.5e-09	+0.84	11:65324138:G:A
Skin Sun Exposed Lower leg	sqtl	2.2e-08	-0.46	11:65301804:G:C
Cells Cultured fibroblasts	sqtl	2.3e-07	+0.49	11:65301804:G:C
Pancreas	sqtl	6.9e-07	-0.59	11:65332666:C:T
Lung	sqtl	8.9e-07	+0.48	11:65332666:C:T
Colon Transverse	sqtl	1.3e-06	+0.55	11:65302063:A:C
Skin Not Sun Exposed Suprapubic	sqtl	1.8e-06	-0.49	11:65241446:A:G
Esophagus Mucosa	sqtl	9.3e-06	+0.51	11:65324138:G:A
Adipose Subcutaneous	sqtl	1.1e-05	+0.37	11:65254141:C:A
Ovary	sqtl	1.2e-05	-0.94	11:65245503:C:G
Brain Cerebellum	sqtl	1.4e-05	-0.83	11:65324367:C:A
Thyroid	sqtl	1.5e-05	-0.39	11:65318674:C:T
Muscle Skeletal	sqtl	2.4e-05	-0.40	11:65324138:G:A
Stomach	sqtl	4.4e-05	+0.54	11:65301804:G:C
Adipose Visceral Omentum	sqtl	5.7e-05	+1.75	11:65263586:G:A
Brain Cerebellar Hemisphere	sqtl	1.0e-04	-0.72	11:65297219:G:A

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
115066	30.2366	1663
115065	8.5184	1620

Top tissues by expression

showing 100 of 136 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	92.01	gold quality
omental fat pad	UBERON:0010414	90.42	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.39	gold quality
lower esophagus	UBERON:0013473	90.28	gold quality
mucosa of stomach	UBERON:0001199	89.40	gold quality
blood	UBERON:0000178	88.70	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.57	gold quality
adipose tissue	UBERON:0001013	87.88	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	87.41	gold quality
stromal cell of endometrium	CL:0002255	86.44	gold quality
subcutaneous adipose tissue	UBERON:0002190	85.74	gold quality
left uterine tube	UBERON:0001303	85.53	gold quality
gall bladder	UBERON:0002110	84.83	gold quality
upper lobe of left lung	UBERON:0008952	84.80	gold quality
heart left ventricle	UBERON:0002084	83.29	gold quality
granulocyte	CL:0000094	82.69	gold quality
placenta	UBERON:0001987	82.66	gold quality
left lobe of thyroid gland	UBERON:0001120	82.61	gold quality
spleen	UBERON:0002106	82.53	gold quality
thyroid gland	UBERON:0002046	82.50	gold quality
myometrium	UBERON:0001296	82.29	gold quality
metanephros cortex	UBERON:0010533	82.11	gold quality
urinary bladder	UBERON:0001255	81.88	gold quality
muscle layer of sigmoid colon	UBERON:0035805	81.87	gold quality
thoracic mammary gland	UBERON:0005200	81.85	gold quality
right lobe of thyroid gland	UBERON:0001119	81.79	gold quality
body of uterus	UBERON:0009853	81.64	gold quality
fundus of stomach	UBERON:0001160	81.56	gold quality
esophagus	UBERON:0001043	81.43	gold quality
substantia nigra	UBERON:0002038	81.33	gold quality
mucosa of transverse colon	UBERON:0004991	81.26	gold quality
right atrium auricular region	UBERON:0006631	81.19	gold quality
heart	UBERON:0000948	81.03	gold quality
lung	UBERON:0002048	80.94	gold quality
body of stomach	UBERON:0001161	80.56	gold quality
prefrontal cortex	UBERON:0000451	80.53	gold quality
colon	UBERON:0001155	79.90	gold quality
right ovary	UBERON:0002118	79.80	gold quality
Ammon’s horn	UBERON:0001954	79.70	gold quality
left coronary artery	UBERON:0001626	79.65	gold quality
endocervix	UBERON:0000458	79.59	gold quality
transverse colon	UBERON:0001157	79.55	gold quality
adult mammalian kidney	UBERON:0000082	79.19	gold quality
small intestine	UBERON:0002108	79.06	gold quality
stomach	UBERON:0000945	79.04	gold quality
small intestine Peyer’s patch	UBERON:0003454	78.95	gold quality
tibial nerve	UBERON:0001323	78.91	gold quality
intestine	UBERON:0000160	78.87	gold quality
duodenum	UBERON:0002114	78.81	gold quality
frontal cortex	UBERON:0001870	78.65	gold quality
hindlimb stylopod muscle	UBERON:0004252	78.06	gold quality
colonic epithelium	UBERON:0000397	77.80	gold quality
right lung	UBERON:0002167	77.80	gold quality
putamen	UBERON:0001874	77.73	gold quality
fallopian tube	UBERON:0003889	77.22	gold quality
cortex of kidney	UBERON:0001225	77.18	gold quality
temporal lobe	UBERON:0001871	76.89	gold quality
Brodmann (1909) area 9	UBERON:0013540	76.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.86	silver quality
cerebral cortex	UBERON:0000956	76.86	gold quality
leukocyte	CL:0000738	76.82	gold quality
prostate gland	UBERON:0002367	76.79	gold quality
amygdala	UBERON:0001876	76.74	gold quality
ovary	UBERON:0000992	76.73	gold quality
anatomical system	UBERON:0000467	76.66	gold quality
vermiform appendix	UBERON:0001154	76.63	gold quality
material anatomical entity	UBERON:0000465	76.62	gold quality
multicellular organism	UBERON:0000468	76.62	gold quality
left ovary	UBERON:0002119	76.54	gold quality
right frontal lobe	UBERON:0002810	76.53	gold quality
primary visual cortex	UBERON:0002436	76.50	gold quality
monocyte	CL:0000576	76.12	gold quality
smooth muscle tissue	UBERON:0001135	76.04	gold quality
ectocervix	UBERON:0012249	75.88	gold quality
gastrocnemius	UBERON:0001388	75.70	gold quality
right coronary artery	UBERON:0001625	75.61	gold quality
lower esophagus mucosa	UBERON:0035834	75.59	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	75.45	gold quality
hypothalamus	UBERON:0001898	75.17	gold quality
vagina	UBERON:0000996	75.11	gold quality
caudate nucleus	UBERON:0001873	75.01	gold quality
superior frontal gyrus	UBERON:0002661	75.00	gold quality
uterine cervix	UBERON:0000002	74.85	gold quality
kidney	UBERON:0002113	74.83	gold quality
muscle of leg	UBERON:0001383	74.66	gold quality
skeletal muscle organ	UBERON:0014892	74.61	gold quality
anterior cingulate cortex	UBERON:0009835	74.06	gold quality
muscle tissue	UBERON:0002385	73.74	gold quality
left adrenal gland cortex	UBERON:0035825	73.65	gold quality
esophagus mucosa	UBERON:0002469	73.63	gold quality
brain	UBERON:0000955	73.58	gold quality
skeletal muscle tissue	UBERON:0001134	73.16	gold quality
left adrenal gland	UBERON:0001234	73.13	gold quality
right adrenal gland	UBERON:0001233	72.88	gold quality
descending thoracic aorta	UBERON:0002345	72.76	gold quality
cortical plate	UBERON:0005343	72.65	gold quality
sural nerve	UBERON:0015488	71.94	gold quality
thoracic aorta	UBERON:0001515	71.90	gold quality
right adrenal gland cortex	UBERON:0035827	71.81	gold quality
adrenal gland	UBERON:0002369	71.80	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.37

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 79 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Corpus callosum	tissue	85.2
Spinal cord	tissue	51.2
Medulla oblongata	tissue	51.0
Midbrain	tissue	42.5
Substantia nigra	tissue	40.9
Superior colliculi	tissue	37.0
Adipose tissue	tissue	35.2	medium
Thalamus	tissue	34.7
Pons	tissue	33.2
Putamen	tissue	29.6
Periaqueductal gray	tissue	27.7
Locus coeruleus	tissue	25.2
Nucleus accumbens	tissue	23.7
Hypothalamus	tissue	22.5
Ventral forebrain	tissue	21.9
Hippocampal formation	tissue	20.6
Hippocampus	tissue	19.9	low
Urinary bladder	tissue	17.5	medium
Septum	tissue	16.7
Gallbladder	tissue	14.4	medium
Postcentral gyrus	tissue	14.4
Cerebral cortex	tissue	13.4	medium
Retrosplenial cortex	tissue	13.4
Occipital cortex	tissue	13.1
Thyroid gland	tissue	12.3	medium
Somatosensory cortex	tissue	12.3
Placenta	tissue	11.3	medium
Motor cortex	tissue	10.4
Amygdala	tissue	10.3
Caudate putamen	tissue	10.3
Choroid plexus	tissue	10.2
Insular cortex	tissue	9.9
Basal ganglia	tissue	9.4	low
Cervix	tissue	9.3	low
Ovary	tissue	9.3	low
Retrosplenial and cingulate cortex	tissue	9.1
Duodenum	tissue	9.0	medium
Spleen	tissue	8.7	not detected
Vagina	tissue	8.6	low
Prefrontal cortex	tissue	8.4
Appendix	tissue	7.9	medium
Lung	tissue	7.7	medium
Esophagus	tissue	7.6	medium
Endometrium 1	tissue	7.5	not detected
Entorhinal cortex	tissue	7.5
Temporal cortex	tissue	7.5
Small intestine	tissue	7.3	medium
Olfactory bulb	tissue	7.3
Heart muscle	tissue	7.0	medium
Smooth muscle	tissue	6.9	not detected
Frontal cortex	tissue	6.5
Tongue	tissue	5.8
Pancreas	tissue	5.5	low
Skeletal muscle	tissue	5.4	not detected
Fallopian tube	tissue	5.4	medium
Cerebellum	tissue	5.2	medium
Colon	tissue	5.0	medium
Seminal vesicle	tissue	4.9	medium
Pituitary gland	tissue	4.7
Prostate	tissue	4.6	medium

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Parieto-temporal junction (white matter) (88.6), White matter (85.2), Temporal white matter (77.0), Corpus callosum, genu (white matter) (67.1), Corpus callosum, splenium (white matter) (65.3).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CDC42EP2 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

26 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-330-5P	98.73	67.63	1788
HSA-MIR-615-5P	98.10	63.76	591
HSA-MIR-6847-5P	97.93	66.74	1808
HSA-MIR-3173-5P	97.35	65.82	1282
HSA-MIR-6799-3P	97.35	65.60	1302
HSA-MIR-5187-3P	97.28	67.10	1037
HSA-MIR-3649	96.85	64.10	340
HSA-MIR-1226-5P	96.50	65.28	643
HSA-MIR-4435	95.90	65.47	1201
HSA-MIR-6874-5P	95.73	64.94	545

Functional genomics

gnomAD constraint: pLI 0.0411, LOEUF 1.36, missense Z 0.946 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000279249 — one region, missense o/e 0.89.

Literature-anchored findings (GeneRIF, showing 3)

• activations of Rac1 and Cdc42 are involved in the hypoxia-induced production of angiogenesis-promoting factors and tumor suppressors, and suggest that the Rho family GTPases Rac1 and Cdc42 may contribute to the hypoxia-mediated angiogenesis. (PMID:16395716)
• CDC42EP2 is upregulated in human PDLCs subjected to tensile stress related to mechano-induced cell cycle arrest. (PMID:20934684)
• Studies indicate some of the functional and mechanistic roles of the binder of Rho GTPases Borg1-5 proteins (Cdc42EP1-5), including cytoskeletal remodelling and signalling. (PMID:27913681)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cdc42ep2	ENSDARG00000053959
mus_musculus	Cdc42ep2	ENSMUSG00000045664
rattus_norvegicus	Cdc42ep2	ENSRNOG00000020904

Paralogs (5): CDC42EP1 (ENSG00000128283), CDC42EP3 (ENSG00000163171), CDC42EP5 (ENSG00000167617), CDC42EP4 (ENSG00000179604), C15orf62 (ENSG00000188277)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	Q08DN6	87.1%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
POLA2	protein-coding	23649
CAPN1-AS1	ncRNA	728975
CAPN1	protein-coding	823
TIGD3	protein-coding	220359
DPF2	protein-coding	5977
SLC25A45	protein-coding	283130
FRMD8	protein-coding	83786

Protein

Protein identifiers

Cdc42 effector protein 2 — O14613 (reviewed: O14613)

Alternative names: Binder of Rho GTPases 1

All UniProt accessions (1): O14613

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Interacts with RHOQ and CDC42 in a GTP-dependent manner, and with SEPT7.

Subcellular location. Endomembrane system. Cytoplasm. Cytoskeleton.

Tissue specificity. Highly expressed in the heart. Weakly expressed in the pancreas and liver.

Domain organisation. The CRIB domain mediates interaction with CDC42.

Similarity. Belongs to the BORG/CEP family.

RefSeq proteins (1): NP_006770* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000095	CRIB_dom	Domain
IPR017363	Cdc42_effector_prot_2	Family
IPR029273	Cdc42_effect-like	Domain
IPR051296	Cdc42_Effector_BORG/CEP	Family

Pfam: PF00786, PF14957

UniProt features (12 total): modified residue 4, sequence variant 2, initiator methionine 1, chain 1, mutagenesis site 1, sequence conflict 1, domain 1, region of interest 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O14613-F1	62.22	0.03

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; microtubules; vesicles

Antibody reliability (HPA): IH approved · IF approved

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4)

Type	Positions
N-acetylserine	2
Phosphoserine	31, 101, 141

Mutagenesis-validated functional residues (1)

Position	Phenotype
39–42	no binding with cdc42; no induced pseudopodia formation.

Function

Pathways and Gene Ontology

Reactome pathways

3 curated (TAS) of 8; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

8 pathways:

ID	Pathway	Evidence
R-HSA-9013148	CDC42 GTPase cycle	curated
R-HSA-5687128	MAPK6/MAPK4 signaling	curated
R-HSA-9013406	RHOQ GTPase cycle	curated
R-HSA-5683057	MAPK family signaling cascades	—
R-HSA-9012999	RHO GTPase cycle	—
R-HSA-162582	Signal Transduction	—
R-HSA-194315	Signaling by Rho GTPases	—
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3	—

MSigDB gene sets: 190 (showing top): GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_RESPONSE_TO_PEPTIDE, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOMF_GTPASE_BINDING, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, chr11q13, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, BROWNE_HCMV_INFECTION_48HR_DN

GO Biological Process (7): actin filament organization (GO:0007015), Rho protein signal transduction (GO:0007266), regulation of cell shape (GO:0008360), actin cytoskeleton organization (GO:0030036), positive regulation of actin filament polymerization (GO:0030838), positive regulation of pseudopodium assembly (GO:0031274), positive regulation of protein-containing complex assembly (GO:0031334)

GO Molecular Function (4): opioid peptide activity (GO:0001515), GTPase activator activity (GO:0005096), small GTPase binding (GO:0031267), protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), endomembrane system (GO:0012505), microtubule cytoskeleton (GO:0015630), membrane (GO:0016020), phagocytic vesicle (GO:0045335)

Reactome top-level categories

5 top-level categories:

Category	Pathways
RHO GTPase cycle	2
Signal Transduction	2
MAPK family signaling cascades	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1

GO top-level categories

35 GO namespaces:

Category	Terms
cellular anatomical structure	4
actin cytoskeleton organization	1
supramolecular fiber organization	1
small GTPase-mediated signal transduction	1
regulation of cell morphogenesis	1
regulation of biological quality	1
cytoskeleton organization	1
actin filament-based process	1
actin filament polymerization	1
regulation of actin filament polymerization	1
positive regulation of protein polymerization	1
positive regulation of cytoskeleton organization	1
positive regulation of supramolecular fiber organization	1
pseudopodium assembly	1
regulation of pseudopodium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
regulation of protein-containing complex assembly	1
positive regulation of cellular component biogenesis	1
positive regulation of cellular component organization	1
protein-containing complex assembly	1
receptor ligand activity	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
GTPase binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
vacuole	1
plasma membrane	1
cytoskeleton	1
endocytic vesicle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 10 of 19 annotations. The rest are phylogenetic / computational / electronic (IEA).

10 experimentally-supported GO terms:

GO term	NS	Evidence
actin cytoskeleton organization	BP	direct assay
positive regulation of actin filament polymerization	BP	direct assay
positive regulation of pseudopodium assembly	BP	direct assay
regulation of cell shape	BP	direct assay
cytoplasm	CC	direct assay
membrane	CC	direct assay
microtubule cytoskeleton	CC	direct assay
plasma membrane	CC	direct assay
GTPase activator activity	MF	mutant phenotype
small GTPase binding	MF	physical interaction

Protein interactions and networks

STRING

showing 16 of 388 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDC42EP2	CDC42EP5	Q6NZY7	961
CDC42EP2	RHOQ	P17081	803
CDC42EP2	CDC42	P21181	627
CDC42EP2	ZNRD2	O60232	483
CDC42EP2	SEPTIN12	Q8IYM1	479
CDC42EP2	SLC25A45	Q8N413	475
CDC42EP2	FAM89B	Q8N5H3	468
CDC42EP2	SIPA1	Q96FS4	458
CDC42EP2	ZNF26	P17031	453
CDC42EP2	FRMD8	Q9BZ67	449
CDC42EP2	TIGD3	Q6B0B8	437
CDC42EP2	SEPTIN6	Q14141	422
CDC42EP2	MAP3K11	Q16584	402
CDC42EP2	KCNK7	Q9Y2U2	390
CDC42EP2	AEBP2	Q6ZN18	380
CDC42EP2	SEPTIN1	Q8WYJ6	380

IntAct

Human interaction partners of CDC42EP2 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

8 partners by confidence:

Partner	Interaction type	MIscore	Records
CDC42	physical association	0.830	10
NME7	physical association	0.720	6
CASS4	physical association	0.670	4
ARHGAP26	physical association	0.560	6
COX5B	physical association	0.560	3
NEDD9	physical association	0.560	3
PICK1	physical association	0.560	3
PCNA	physical association	0.370	1

BioGRID (31 interactions; top human partners by supporting records): CDC42 (Two-hybrid; 10 records), ARHGAP26 (Two-hybrid; 3 records), RHOQ (Reconstituted Complex; 3 records), NME7 (Two-hybrid; 2 records), ARL13B (Proximity Label-MS), ARL14 (Proximity Label-MS), ARL4C (Proximity Label-MS), CASS4 (Two-hybrid), COX5B (Two-hybrid), KIAA1429 (Affinity Capture-RNA), NEDD9 (Two-hybrid), NRAS (Proximity Label-MS), PICK1 (Two-hybrid), SEPT6 (Reconstituted Complex), SEPT7 (Reconstituted Complex)

SIGNOR signaling

1 signaling interactions:

A	Effect	B	Mechanism
MAPK1	unknown	CDC42EP2	phosphorylation

Disease & clinical

Genetic variants

Variant evidence for CDC42EP2: 33 ClinVar records (0 pathogenic / likely pathogenic); 4 GWAS associations.

ClinVar

33 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	31
Likely benign	0
Benign	1

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 25 predictions of 265):

Position(s)	Effect	Δscore	Sites
11:65314955–65314956	donor_loss	0.9900	5
11:65320542–65320543	acceptor_loss	0.9800	6
11:65320534	acceptor_loss	0.9000
11:65320728	acceptor_gain	0.8800
11:65320727	acceptor_gain	0.8700
11:65320541	acceptor_loss	0.8600
11:65318984–65318985	donor_loss	0.8500	6
11:65318988	donor_loss	0.8300
11:65318983	donor_loss	0.8200	2
11:65318988	donor_loss	0.8100

AlphaMissense

473 missense substitutions predicted likely pathogenic (of 1,364 scored), across 107 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M29	9	0.932	0.994
M199	9	0.851	0.950
H39	8	0.994	0.997
H42	8	0.991	0.998
D186	8	0.978	0.991
F52	8	0.971	0.998
F57	8	0.970	0.998
D36	8	0.969	0.990
D54	8	0.955	0.987
S31	8	0.950	0.999
F37	8	0.946	0.997
D23	8	0.782	0.864
I30	7	0.969	0.999
N106	7	0.804	0.962
D50	7	0.800	0.913
G188	6	0.993	0.997
G53	6	0.987	0.997
P189	6	0.961	0.978
P33	6	0.958	0.988
K10	6	0.956	0.993

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

3 prognostic cancer types:

Cancer	Prognostic	p-value
Liver Hepatocellular Carcinoma (TCGA)	unfavorable	3.27e-05
Liver Hepatocellular Carcinoma (validation)	unfavorable	4.74e-05
Lung Adenocarcinoma (TCGA)	unfavorable	5.66e-05

Disease associations

OMIM: gene MIM:606132 | disease phenotypes:

GWAS associations

4 associations:

Study	Trait	p-value
GCST90002392_373	Mean corpuscular volume	9e-22
GCST90002390_107	Mean corpuscular hemoglobin	5e-19
GCST002481_8	Acne (severe)	3e-11
GCST004602_250	Mean corpuscular volume	4e-9

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0004527	mean corpuscular hemoglobin

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression, increases methylation	3
Estradiol	affects cotreatment, increases expression	3
bisphenol A	affects expression, affects cotreatment, increases methylation	2
Dexamethasone	increases expression, affects cotreatment, decreases expression	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases abundance, increases expression	1
butyraldehyde	increases expression	1
ferrous chloride	decreases expression	1
muconaldehyde	decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
licochalcone B	increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Cadmium	increases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, decreases expression	1
N-Nitrosopyrrolidine	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.