AKAP7: A-Kinase Anchoring Protein 7
A scaffold protein regulating PKA signaling in cardiac and neuronal tissues
Gene Information Card
| Symbol | AKAP7 |
|---|---|
| Full Name | A-kinase anchoring protein 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q23.2 |
| NCBI Gene ID | 9465 ncbi.nlm.nih.gov/gene/9465 |
| Ensembl ID | ENSG00000118526 |
| UniProt ID | O43687 |
| OMIM ID | 604692 |
| HGNC ID | 377 |
| Aliases | AKAP15, AKAP18, AKAP7alpha, AKAP7beta, AKAP7gamma |
Description
AKAP7 (A-kinase anchoring protein 7) encodes a member of the A-kinase anchoring protein family. These proteins function as scaffolds that tether protein kinase A (PKA) to specific subcellular compartments, thereby localizing PKA-mediated phosphorylation to discrete substrates. AKAP7 isoforms are expressed in heart, brain, and other tissues, and play critical roles in cardiac ion channel regulation and synaptic signaling. Mutations in AKAP7 are associated with long QT syndrome type 11 (LQT11).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Long QT syndrome 11 (LQT11) | Loss of AKAP7 function disrupts PKA anchoring to cardiac ion channels, impairing repolarization | ClinVar, OMIM |
| Cardiac arrhythmia | Altered PKA signaling via AKAP7 variants affects action potential duration | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Skeletal muscle | 6.1 | Low |
| Kidney | 4.7 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 9.8 | Neuronal model |
| H9c2 | 11.4 | Cardiomyocyte model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Trp) | Missense | <0.01% | Reduced PKA binding affinity; associated with LQT11 |
| c.256G>A (p.Glu86Lys) | Missense | <0.01% | Altered subcellular localization; reported in arrhythmia |
| c.403_404del (p.Lys135Glufs*12) | Frameshift | <0.01% | Loss of function; truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift variants that reduce PKA anchoring or protein stability lead to loss of function.
Gain of Function (GOF)
Not reported for AKAP7.
Dominant Negative (DN)
Some missense variants may act dominant-negative by competing with wild-type AKAP7 for PKA binding.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (protein binding) | • GO:0051018 (protein kinase A binding) |
| • GO:0005737 (cytoplasm) | • GO:0005886 (plasma membrane) |
| • GO:0034236 (protein kinase A anchoring) |
Pathways
• Adrenergic signaling in cardiomyocytes (KEGG: hsa04261)
• cGMP-PKG signaling pathway (KEGG: hsa04022)
• cAMP signaling pathway (KEGG: hsa04024)
Protein Summary
AKAP7 encodes a scaffold protein that binds the regulatory subunit of PKA (PRKAR2A/PRKAR2B) and targets the kinase to specific subcellular sites, including the plasma membrane and sarcoplasmic reticulum. Isoforms vary in length and localization. The protein is essential for PKA-mediated phosphorylation of cardiac L-type calcium channels and potassium channels, thereby regulating cardiac action potential duration. In neurons, AKAP7 modulates synaptic plasticity by anchoring PKA near AMPA receptors.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAP7 Knockout HEK293 Cell Line | EDJ-KQ1982 | Human | 9465 | Details Get a Quote |
| AKAP7 Knockout A-549 Cell Line | EDJ-KQ23328 | Human | 9465 | Details Get a Quote |
| AKAP7 Knockout HCT 116 Cell Line | EDJ-KQ23329 | Human | 9465 | Details Get a Quote |
| AKAP7 Knockout HeLa Cell Line | EDJ-KQ23330 | Human | 9465 | Details Get a Quote |
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