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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CAP2
cyclase associated actin cytoskeleton regulatory protein 2
Chromosome 6 Β· 6p22.3
NCBI Gene: 10486Ensembl: ENSG00000112186.13HGNC: HGNC:20039UniProt: B7Z385
59PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
identical protein bindingprotein bindingadenylate cyclase bindingactin bindingcardiomyopathy, dilated, 2Ihemorrhoidfamilial isolated dilated cardiomyopathygastroduodenitis
✦AI Summary

CAP2 (cyclase associated actin cytoskeleton regulatory protein 2) is a multifunctional protein that primarily regulates actin polymerization dynamics and cellular signaling pathways 1. The protein contains distinct functional domains, including N-terminal and C-terminal regions that serve different roles - the N-terminal domain is involved in adenylyl cyclase regulation while the C-terminal domain affects cellular morphology and actin dynamics 2. CAP2 plays a critical role in actin filament organization, as demonstrated by studies showing that CAP2 mutations impair actin repolymerization kinetics in patient fibroblasts 3. Beyond cytoskeletal regulation, CAP2 functions in cellular signaling and immune responses, with bacterial homologs serving as immune priming factors through ubiquitin transferase-like mechanisms 4. Clinically, CAP2 mutations are associated with dilated cardiomyopathy, where a homozygous splice site mutation causes protein instability and cardiac dysfunction including supraventricular tachycardia 3. The protein also shows disease relevance in cancer, where upregulated CAP2 promotes gastric cancer metastasis by mediating tumor-macrophage interactions and activating pro-metastatic signaling pathways 5. These findings establish CAP2 as an essential regulator of both structural and signaling processes in mammalian cells.

Sources cited
1
CAP2 is crucial for actin dynamics regulation and signal transduction pathways
PMID: 35150966
2
CAP2 has distinct N-terminal and C-terminal domains with different functions - adenylyl cyclase regulation and cellular morphology respectively
PMID: 7962207
3
CAP2 mutations impair actin repolymerization kinetics and cause dilated cardiomyopathy with cardiac conduction defects
PMID: 30518548
4
Bacterial CAP2 homologs function as immune priming factors through ubiquitin transferase-like mechanisms
PMID: 36755092
5
CAP2 upregulation promotes gastric cancer metastasis by mediating tumor-macrophage interactions
PMID: 37707957
Disease Associationsβ“˜21
cardiomyopathy, dilated, 2IOpen Targets
0.63Moderate
hemorrhoidOpen Targets
0.41Moderate
familial isolated dilated cardiomyopathyOpen Targets
0.38Weak
gastroduodenitisOpen Targets
0.33Weak
pregnancy disorderOpen Targets
0.31Weak
puerperal disorderOpen Targets
0.31Weak
Abnormal blistering of the skinOpen Targets
0.30Weak
chondromalaciaOpen Targets
0.23Weak
hepatocellular carcinomaOpen Targets
0.10Weak
Alzheimer diseaseOpen Targets
0.10Suggestive
Blackfan-Diamond anemiaOpen Targets
0.09Suggestive
poisoningOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
left ventricular noncompactionOpen Targets
0.08Suggestive
Parkinson diseaseOpen Targets
0.08Suggestive
early-onset non-syndromic cataractOpen Targets
0.08Suggestive
response to antibioticOpen Targets
0.08Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
Cardiomyopathy, dilated, 2IUniProt
Pathogenic Variants3
NM_006366.3(CAP2):c.636+1G>APathogenic
Cardiomyopathy, dilated, 2I
β˜†β˜†β˜†β˜†2023
NM_006366.3(CAP2):c.948T>G (p.Tyr316Ter)Pathogenic
Cardiomyopathy, dilated, 2I
β˜†β˜†β˜†β˜†2023β†’ Residue 316
NM_006366.3(CAP2):c.1288del (p.Cys430fs)Pathogenic
Cardiomyopathy, dilated, 2I
β˜†β˜†β˜†β˜†2023β†’ Residue 430
View on ClinVar β†—
Related Genes
CFL1Protein interaction94%TWF2Protein interaction92%ACTBProtein interaction89%ACTG1Protein interaction87%DBN1Protein interaction85%GRXCR1Protein interaction83%
Tissue Expression6 tissues
Heart
100%
Brain
51%
Liver
3%
Ovary
3%
Lung
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CAP2CFL1TWF2ACTBACTG1DBN1GRXCR1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P40123
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.76LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.52 [0.36–0.76]
RankingsWhere CAP2 stands among ~20K protein-coding genes
  • #7,741of 20,598
    Most Researched59
  • #4,045of 5,498
    Most Pathogenic Variants3
  • #6,133of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedCAP2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
CAP2 promotes gastric cancer metastasis by mediating the interaction between tumor cells and tumor-associated macrophages.
PMID: 37707957
J Clin Invest Β· 2023
1.00
2
Comparison of human CAP and CAP2, homologs of the yeast adenylyl cyclase-associated proteins.
PMID: 7962207
J Cell Sci Β· 1994
0.90
3
An E1-E2 fusion protein primes antiviral immune signalling in bacteria.
PMID: 36755092
Nature Β· 2023
0.80
4
Disease association of cyclase-associated protein (CAP): Lessons from gene-targeted mice and human genetic studies.
PMID: 35150966
Eur J Cell Biol Β· 2022
0.70
5
Expression of ovine CTNNA3 and CAP2 genes and their association with growth traits.
PMID: 34481004
Gene Β· 2022
0.60