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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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POPDC2
popeye domain cAMP effector 2
Chromosome 3 · 3q13.33
NCBI Gene: 64091Ensembl: ENSG00000121577.14HGNC: HGNC:17648UniProt: C9J3P7
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of heart ratesarcolemmaskeletal muscle tissue developmentregulation of membrane potentialhypertrophic cardiomyopathyRomano-Ward syndromeRare familial disorder with hypertrophic cardiomyopathyArrhythmogenic right ventricular dysplasia
✦AI Summary

POPDC2 (popeye domain cAMP effector 2) is a membrane-bound cAMP-binding protein essential for cardiac pacemaking and conduction. The protein functions by binding cAMP and regulating the subcellular localization and activity of effector proteins, particularly the two-pore potassium channel TREK-1 1. POPDC2 enhances TREK-1 membrane transport and current density in a cAMP-dependent manner, with increased cAMP levels blocking this enhancement 12. The protein is highly expressed in cardiac pacemaker regions, particularly the sinoatrial and atrioventricular nodes 32. Loss-of-function mutations in POPDC2 cause autosomal recessive cardiac syndrome characterized by sinus node dysfunction, atrioventricular conduction defects, and hypertrophic cardiomyopathy 2. Heterozygous nonsense mutations contribute to familial atrioventricular block through impaired TREK-1 modulation 3. POPDC2 forms complexes with POPDC1, and pathogenic variants can destabilize this complex, reducing protein abundance 2. The protein also serves as a biomarker for cardiomyocyte-derived extracellular vesicles, enabling non-invasive cardiac monitoring 4. Additionally, POPDC2 expression is dysregulated in diabetic cardiomyopathy and certain cancers 56.

Sources cited
1
POPDC2 is a membrane-bound cAMP-binding protein that modulates TREK-1 channel activity and membrane transport
PMID: 24646234
2
Bi-allelic POPDC2 variants cause autosomal recessive cardiac syndrome with conduction defects and hypertrophic cardiomyopathy
PMID: 40409267
3
POPDC2 nonsense mutations cause atrioventricular block through impaired TREK-1 modulation and is highly expressed in cardiac conduction system
PMID: 32535041
4
POPDC2 serves as a biomarker for cardiomyocyte-derived extracellular vesicles enabling non-invasive cardiac monitoring
PMID: 39371135
5
POPDC2 expression is dysregulated in diabetic cardiomyopathy
PMID: 37355664
6
POPDC proteins are dysregulated in various cancers and present potential therapeutic targets
PMID: 27458118
Disease Associationsⓘ20
hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
Romano-Ward syndromeOpen Targets
0.08Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.07Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.07Suggestive
dilated cardiomyopathyOpen Targets
0.07Suggestive
left ventricular noncompactionOpen Targets
0.07Suggestive
Brugada syndromeOpen Targets
0.06Suggestive
Familial short QT syndromeOpen Targets
0.06Suggestive
familial atrial fibrillationOpen Targets
0.06Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.06Suggestive
Atrial stand stillOpen Targets
0.06Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
infectionOpen Targets
0.06Suggestive
Familial dilated cardiomyopathy with conduction defect due to LMNA mutationOpen Targets
0.06Suggestive
familial sick sinus syndromeOpen Targets
0.05Suggestive
Glycogen storage disease due to glycogenin deficiencyOpen Targets
0.05Suggestive
glycogen storage disease XVOpen Targets
0.05Suggestive
long QT syndrome 9Open Targets
0.05Suggestive
long QT syndrome 15Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POPDC3Shared pathway80%KCNK2Protein interaction77%POPDC1Shared pathway27%ZBTB18Shared pathway20%SMYD4Shared pathway20%ADAP2Shared pathway20%
Tissue Expression6 tissues
Heart
100%
Lung
1%
Ovary
1%
Liver
0%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
POPDC2POPDC3KCNK2POPDC1ZBTB18SMYD4ADAP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HBU9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.06LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.52–1.06]
RankingsWhere POPDC2 stands among ~20K protein-coding genes
  • #15,664of 20,598
    Most Researched15
  • #10,600of 17,882
    Most Constrained (LOEUF)1.06
Genes detectedPOPDC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The expanding phenotypes of cohesinopathies: one ring to rule them all!
PMID: 31516082
Cell Cycle · 2019
1.00
2
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.
PMID: 40409267
Am J Hum Genet · 2025
0.90
3
POPDC2 a novel susceptibility gene for conduction disorders.
PMID: 32535041
J Mol Cell Cardiol · 2020
0.80
4
Triterpenes from Ganoderma lucidum inhibit hepatocellular carcinoma by regulating enhancer-associated lncRNA in vivo.
PMID: 39186989
J Ethnopharmacol · 2025
0.70
5
Identification of hub genes and potential ceRNA networks of diabetic cardiomyopathy.
PMID: 37355664
Sci Rep · 2023
0.60