POPDC2: Popeye Domain-Containing Protein 2
A cardiac and skeletal muscle-specific cAMP-binding protein involved in heart rate regulation and muscle function.
Gene Information Card
| Symbol | POPDC2 |
|---|---|
| Full Name | Popeye Domain-Containing Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.33 |
| NCBI Gene ID | 64091 ncbi.nlm.nih.gov/gene/64091 |
| Ensembl ID | ENSG00000121577 |
| UniProt ID | Q9BSE5 |
| OMIM ID | 605824 |
| HGNC ID | 17649 |
| Aliases | POP2, POPDC2 |
Description
POPDC2 encodes a member of the Popeye domain-containing protein family, which is predominantly expressed in cardiac and skeletal muscle. The protein contains a conserved Popeye domain that binds cAMP, and it plays a critical role in regulating heart rate, muscle cell differentiation, and membrane trafficking. Mutations in POPDC2 have been linked to cardiac arrhythmias and muscular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac arrhythmia | Loss-of-function mutations impair cAMP binding, disrupting sinoatrial node pacemaker activity | ClinVar, OMIM |
| Muscular dystrophy | Missense mutations reduce protein stability and membrane localization, leading to skeletal muscle degeneration | UniProt, PubMed |
| Atrial fibrillation | Reduced POPDC2 expression alters ion channel trafficking, increasing susceptibility to arrhythmia | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal muscle | 8.3 | Medium |
| Brain | 1.2 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 15.0 | High expression |
| Skeletal muscle myoblasts | 9.8 | Medium expression |
| HEK293 | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.232C>T (p.Arg78Cys) | Missense | Rare | Reduced cAMP binding affinity |
| c.401G>A (p.Arg134His) | Missense | Rare | Impaired membrane trafficking |
| c.523_524del (p.Leu175fs) | Frameshift | Very rare | Loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce cAMP binding or protein stability lead to loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by interfering with dimerization.
View complete mutation data：
Gene Ontology (GO)
| • cAMP binding | • membrane trafficking |
| • regulation of heart rate | • muscle cell differentiation |
| • protein homodimerization activity |
Pathways
• cAMP signaling pathway
• Cardiac conduction
• Muscle contraction
Protein Summary
POPDC2 is a 360-amino acid transmembrane protein with a cytoplasmic Popeye domain that binds cAMP. It localizes to the plasma membrane and intracellular vesicles, where it modulates ion channel trafficking and cell adhesion. The protein is essential for maintaining normal cardiac pacemaker activity and skeletal muscle integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POPDC2 Knockout HEK293 Cell Line | EDJ-KQ14834 | Human | 64091 | Details Get a Quote |
| POPDC2 Knockout HCT 116 Cell Line | EDJ-KQ45280 | Human | 64091 | Details Get a Quote |
| POPDC2 Knockout HeLa Cell Line | EDJ-KQ57020 | Human | 64091 | Details Get a Quote |
| POPDC2 Knockout A-549 Cell Line | EDJ-KQ65526 | Human | 64091 | Details Get a Quote |
