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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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POPDC1
popeye domain cAMP effector 1
Chromosome 6 Β· 6q21
NCBI Gene: 11149Ensembl: ENSG00000112276.15HGNC: HGNC:1152UniProt: Q8NE79
43PubMed Papers
21Diseases
0Drugs
11Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell junctionskeletal muscle tissue developmentprotein bindingstructural molecule activityautosomal recessive limb-girdle muscular dystrophy type 2Xatrial fibrillationautosomal recessive limb-girdle muscular dystrophyresponse to cranial radiation therapy
✦AI Summary

POPDC1 is a cAMP-binding protein with critical roles in cardiac and skeletal muscle function and cell adhesion. In the heart, POPDC1 regulates cardiac pacemaking and conduction through cAMP signaling compartmentalization, with mutations causing atrioventricular block exacerbated by sympathetic nervous system activation 1. The protein functions as a plasma membrane-localized effector that modulates cardiac electrophysiology and intracellular calcium handling 1. POPDC1 also serves as a cell adhesion molecule maintaining epithelial tight junction integrity and regulating receptor recycling through interactions with VAMP3 and Rho-family GTPases. Disease relevance centers on inherited muscle disorders and cardiac arrhythmias. A homozygous S201F missense mutation causes limb-girdle muscular dystrophy and cardiac arrhythmia through impaired protein trafficking and reduced cAMP affinity 2. Additionally, POPDC1 acts as a tumor suppressor in multiple cancers. In breast cancer, POPDC1 suppression promotes cell migration and proliferation via EGFR-mediated regulation, with cAMP interaction upregulating POPDC1 expression 34. Similar suppression occurs in colon cancer, where CaM antagonists upregulate POPDC1 to inhibit cancer cell growth 5. Therapeutically, restoring POPDC1 expression represents a potential strategy for both cardiac arrhythmia management and cancer treatment.

Sources cited
1
POPDC1 dysfunction impairs cardiac electrophysiology and calcium handling; mutations cause atrioventricular block exacerbated by sympathetic nervous system stimulation
PMID: 38540339
2
POPDC1(S201F) homozygous mutation causes limb-girdle muscular dystrophy and cardiac arrhythmia through impaired protein trafficking and reduced cAMP affinity
PMID: 26642364
3
POPDC1 suppression promotes breast cancer cell migration and proliferation; cAMP interacts with POPDC1 and upregulates its expression
PMID: 28954821
4
POPDC1 is suppressed in breast cancer tissues; EGFR negatively regulates POPDC1 expression, and POPDC1 overexpression attenuates EGFR-mediated cell migration and proliferation
PMID: 28807821
5
POPDC1 is suppressed in colon cancer; CaM antagonists upregulate POPDC1 expression and suppress cancer cell proliferation and migration
PMID: 36037145
6
POPDC1 forms complexes with PDE4 family members that modulate cAMP signaling and cardiac pacemaking in sinoatrial nodes
PMID: 34999055
Disease Associationsβ“˜21
autosomal recessive limb-girdle muscular dystrophy type 2XOpen Targets
0.67Moderate
atrial fibrillationOpen Targets
0.53Moderate
autosomal recessive limb-girdle muscular dystrophyOpen Targets
0.51Moderate
response to cranial radiation therapyOpen Targets
0.32Weak
short-term memoryOpen Targets
0.32Weak
placenta praeviaOpen Targets
0.30Weak
limb-girdle muscular dystrophyOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
glomerulonephritisOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Romano-Ward syndromeOpen Targets
0.08Suggestive
hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
colorectal carcinomaOpen Targets
0.07Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.07Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.07Suggestive
left ventricular noncompactionOpen Targets
0.07Suggestive
Brugada syndromeOpen Targets
0.06Suggestive
dilated cardiomyopathyOpen Targets
0.06Suggestive
Muscular dystrophy, limb-girdle, autosomal recessive 25UniProt
Pathogenic Variants11
NM_001199563.2(POPDC1):c.602C>T (p.Ser201Phe)Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 201
NM_001199563.2(POPDC1):c.262C>T (p.Arg88Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X|Limb-girdle muscular dystrophy|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 88
NM_001199563.2(POPDC1):c.351+1delLikely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X
β˜…β˜†β˜†β˜†2024
NM_001199563.2(POPDC1):c.518dup (p.Ser174fs)Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X
β˜…β˜†β˜†β˜†2022β†’ Residue 174
NM_001199563.2(BVES):c.602C>G (p.Ser201Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 201
NM_001199563.2(POPDC1):c.427A>T (p.Arg143Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 143
NM_001199563.2(POPDC1):c.457C>T (p.Gln153Ter)Likely pathogenic
not provided|Autosomal recessive limb-girdle muscular dystrophy type 2X
β˜…β˜†β˜†β˜†2018β†’ Residue 153
NM_001199563.2(BVES):c.731_734del (p.Phe244fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 244
NM_001199563.2(BVES):c.816+2T>CPathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X
β˜†β˜†β˜†β˜†2022
NM_001199563.2(BVES):c.1A>G (p.Met1Val)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X
β˜†β˜†β˜†β˜†2022β†’ Residue 1
NM_001199563.2(BVES):c.578T>G (p.Ile193Ser)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2X
β˜†β˜†β˜†β˜†2022β†’ Residue 193
View on ClinVar β†—
Related Genes
TJP1Protein interaction96%ARHGEF25Protein interaction79%KCNK2Protein interaction75%POPDC3Shared pathway29%POPDC2Shared pathway27%VAMP5Shared pathway13%
Tissue Expression6 tissues
Heart
100%
Brain
19%
Lung
5%
Ovary
2%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
POPDC1TJP1ARHGEF25KCNK2POPDC3POPDC2VAMP5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NE79
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.92LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.47–0.92]
RankingsWhere POPDC1 stands among ~20K protein-coding genes
  • #9,770of 20,598
    Most Researched43
  • #2,789of 5,498
    Most Pathogenic Variants11
  • #8,371of 17,882
    Most Constrained (LOEUF)0.92
Genes detectedPOPDC1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The expanding phenotypes of cohesinopathies: one ring to rule them all!
PMID: 31516082
Cell Cycle Β· 2019
1.00
2
POPDC1 is suppressed in human breast cancer tissues and is negatively regulated by EGFR in breast cancer cell lines.
PMID: 28807821
Cancer Lett Β· 2017
0.90
3
PMID: 38540339
Genes (Basel) Β· 2024
0.80
4
Ten years of research on the role of BVES/ POPDC1 in human disease: a review.
PMID: 30863095
Onco Targets Ther Β· 2019
0.70
5
Phosphodiesterase type 4 anchoring regulates cAMP signaling to Popeye domain-containing proteins.
PMID: 34999055
J Mol Cell Cardiol Β· 2022
0.60