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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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POPDC3
popeye domain cAMP effector 3
Chromosome 6 Β· 6q21
NCBI Gene: 64208Ensembl: ENSG00000132429.11HGNC: HGNC:17649UniProt: Q9HBV1
23PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcAMP bindingheart developmentskeletal muscle tissue developmentmuscular dystrophy, limb-girdle, autosomal recessive 26muscular dystrophy, limb-girdle, autosomal recessive 23atrial fibrillationautosomal recessive limb-girdle muscular dystrophy
✦AI Summary

POPDC3 encodes a transmembrane protein containing a unique cyclic adenosine monophosphate (cAMP) binding domain, with highest expression levels in skeletal muscle 1. The protein functions as a cAMP effector involved in maintaining striated muscle homeostasis and regulating cellular signaling pathways 2. Mechanistically, POPDC3 modulates the mechano-gated potassium channel TREK-1, with pathogenic variants causing aberrant channel regulation 3. The protein plays crucial roles in skeletal muscle regeneration, heart rhythm control, and stress signaling 2. Disease relevance centers on limb-girdle muscular dystrophy type 26 (LGMD26), where homozygous missense variants in conserved regions cause autosomal recessive muscular dystrophy characterized by proximal muscle weakness, dystrophic muscle biopsies, and elevated serum creatine kinase levels 34. Additionally, POPDC3 functions as a tumor suppressor in various cancers, with downregulation associated with enhanced tumor cell proliferation, migration, and metastasis 25. Clinical significance includes its potential as a biomarker for muscular dystrophy diagnosis and as a therapeutic target in both muscle disorders and cancer, though its role in cancer appears context-dependent 16.

Sources cited
1
POPDC3 is a transmembrane protein with cAMP binding domain, highly expressed in skeletal muscle
PMID: 36843357
2
Functions as cAMP effector in striated muscle homeostasis and acts as tumor suppressor
PMID: 31817925
3
Modulates TREK-1 potassium channel and pathogenic variants cause LGMD26
PMID: 31610034
4
Homozygous missense variants cause recessive limb-girdle muscular dystrophy type 26
PMID: 35075722
5
Acts as tumor suppressor with downregulation promoting cancer progression
PMID: 27458118
6
Potential therapeutic target in cancer with context-dependent roles
PMID: 39971925
Disease Associationsβ“˜21
muscular dystrophy, limb-girdle, autosomal recessive 26Open Targets
0.61Moderate
muscular dystrophy, limb-girdle, autosomal recessive 23Open Targets
0.60Moderate
atrial fibrillationOpen Targets
0.46Moderate
autosomal recessive limb-girdle muscular dystrophyOpen Targets
0.37Weak
glomerulonephritisOpen Targets
0.12Weak
response to cranial radiation therapyOpen Targets
0.12Weak
connective tissue diseaseOpen Targets
0.11Weak
androgenetic alopeciaOpen Targets
0.09Suggestive
short-term memoryOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
head and neck squamous cell carcinomaOpen Targets
0.06Suggestive
alopeciaOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
response to angiotensin-converting enzyme inhibitorOpen Targets
0.03Suggestive
polycythemiaOpen Targets
0.03Suggestive
infectionOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
CoughOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
Peyronie diseaseOpen Targets
0.02Suggestive
Muscular dystrophy, limb-girdle, autosomal recessive 26UniProt
Pathogenic Variants6
NM_022361.5(POPDC3):c.460A>G (p.Lys154Glu)Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
β˜†β˜†β˜†β˜†2024β†’ Residue 154
NM_022361.5(POPDC3):c.486-1G>APathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
β˜†β˜†β˜†β˜†2024
NM_022361.5(POPDC3):c.486-6T>APathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
β˜†β˜†β˜†β˜†2024
NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln)Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
β˜†β˜†β˜†β˜†2020β†’ Residue 261
NM_022361.5(POPDC3):c.464T>A (p.Leu155His)Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
β˜†β˜†β˜†β˜†2020β†’ Residue 155
NM_022361.5(POPDC3):c.651A>T (p.Leu217Phe)Pathogenic
Muscular dystrophy, limb-girdle, autosomal recessive 26
β˜†β˜†β˜†β˜†2020β†’ Residue 217
View on ClinVar β†—
Related Genes
POPDC2Shared pathway80%POPDC1Shared pathway29%ZBTB18Shared pathway25%SMYD4Shared pathway25%ADAP2Shared pathway25%RTL1Shared pathway20%
Tissue Expression6 tissues
Heart
100%
Brain
29%
Lung
1%
Ovary
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
POPDC3POPDC2POPDC1ZBTB18SMYD4ADAP2RTL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9HBV1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.02LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.47–1.02]
RankingsWhere POPDC3 stands among ~20K protein-coding genes
  • #13,487of 20,598
    Most Researched23
  • #3,437of 5,498
    Most Pathogenic Variants6
  • #10,013of 17,882
    Most Constrained (LOEUF)1.02
Genes detectedPOPDC3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Progress on the study of Popeye domain-containing 3 (POPDC3) in malignancies and striated muscle function and homeostasis.
PMID: 36843357
Clin Genet Β· 2023
0.90
3
The Role of the Popeye Domain Containing Gene Family in Organ Homeostasis.
PMID: 31817925
Cells Β· 2019
0.80
4
A novel identified epithelial ligand-receptor-associated gene signature highlights POPDC3 as a potential therapy target for non-small cell lung cancer.
PMID: 39971925
Cell Death Dis Β· 2025
0.70
5
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy.
PMID: 31610034
Ann Neurol Β· 2019
0.60