POPDC3
Popeye Domain Containing 3 – A Cardiac and Skeletal Muscle Gene with Roles in Striated Muscle Function and Disease
Gene Information Card
| Symbol | POPDC3 |
|---|---|
| Full Name | Popeye Domain Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 64208 ncbi.nlm.nih.gov/gene/64208 |
| Ensembl ID | ENSG00000111832 |
| UniProt ID | Q9HBV2 |
| OMIM ID | 605824 |
| HGNC ID | 17649 |
| Aliases | POP3, POPEYE3, bA371P15.1 |
Description
POPDC3 (Popeye Domain Containing 3) is a protein-coding gene located on chromosome 6q21. It belongs to the Popeye domain-containing (POPDC) family, which encodes membrane-associated proteins highly expressed in cardiac and skeletal muscle. POPDC3 is involved in cyclic AMP (cAMP) signaling, cell adhesion, and muscle function. Mutations in POPDC3 have been associated with autosomal recessive limb-girdle muscular dystrophy (LGMD) and cardiac arrhythmias.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Limb-girdle muscular dystrophy (LGMD) | Loss-of-function mutations disrupt cAMP binding and membrane localization, impairing muscle integrity and regeneration. | ClinVar, OMIM |
| Cardiac arrhythmia | POPDC3 mutations alter ion channel regulation and cAMP signaling, predisposing to atrial fibrillation and conduction defects. | ClinVar, OMIM |
| Myocardial infarction | Reduced POPDC3 expression in ischemic heart tissue may contribute to impaired cardiac repair. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal muscle | 38.7 | High |
| Brain | 6.1 | Low |
| Liver | 2.3 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (AC16) | 52.1 | High expression; relevant for cardiac function studies |
| Skeletal muscle myoblasts (C2C12) | 41.5 | High expression; role in myogenesis |
| HEK293 | 8.4 | Low endogenous expression; used for recombinant studies |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.295C>T (p.Arg99Cys) | Missense | <0.01% | Loss of cAMP binding; associated with LGMD |
| c.418G>A (p.Gly140Arg) | Missense | <0.01% | Impaired membrane localization; linked to arrhythmia |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Complete loss of protein; severe LGMD phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that disrupt cAMP binding, protein stability, or membrane targeting lead to loss of POPDC3 function, causing muscular dystrophy and cardiac arrhythmias.
Gain of Function (GOF)
No gain-of-function mutations have been reported for POPDC3.
Dominant Negative (DN)
No dominant-negative mutations have been characterized; all known disease-associated mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • cAMP binding | • membrane |
| • cell adhesion | • striated muscle contraction |
| • regulation of heart contraction | • skeletal muscle tissue regeneration |
Pathways
• cAMP signaling pathway
• Cardiac muscle contraction
• Striated muscle contraction
Protein Summary
POPDC3 encodes a 360-amino acid protein with a conserved Popeye domain that binds cAMP. The protein localizes to the plasma membrane and is essential for maintaining the structural integrity and function of cardiac and skeletal muscle. It interacts with ion channels and adhesion molecules, influencing electrical conduction and muscle repair. Loss of POPDC3 function leads to muscular dystrophy and cardiac arrhythmias.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POPDC3 Knockout HEK293 Cell Line | EDJ-KQ12091 | Human | 64208 | Details Get a Quote |
| POPDC3 Knockout A-549 Cell Line | EDJ-KQ40759 | Human | 64208 | Details Get a Quote |
| POPDC3 Knockout HCT 116 Cell Line | EDJ-KQ40760 | Human | 64208 | Details Get a Quote |
| POPDC3 Knockout HeLa Cell Line | EDJ-KQ40761 | Human | 64208 | Details Get a Quote |
