AKAP10: A-Kinase Anchoring Protein 10
A mitochondrial scaffold protein regulating PKA signaling and cardiac function
Gene Information Card
| Symbol | AKAP10 |
|---|---|
| Full Name | A-kinase anchoring protein 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p11.2 |
| NCBI Gene ID | 11216 ncbi.nlm.nih.gov/gene/11216 |
| Ensembl ID | ENSG00000108298 |
| UniProt ID | O43572 |
| OMIM ID | 604694 |
| HGNC ID | 368 |
| Aliases | PRKA10, D-AKAP2, AKAP-10, mAKAP2 |
Description
AKAP10 encodes a member of the A-kinase anchoring protein family that targets protein kinase A (PKA) to the outer mitochondrial membrane. It contains two RGS (regulator of G protein signaling) domains and a PKA-binding domain, coordinating cAMP-dependent signaling. The gene is implicated in cardiac conduction, insulin secretion, and mitochondrial function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiac arrhythmia | Altered PKA anchoring disrupts ion channel phosphorylation | PMID: 15210945 |
| Type 2 diabetes | Impaired insulin secretion via mitochondrial cAMP signaling | PMID: 19151720 |
| Bipolar disorder | Association with rs203462 variant in GWAS | PMID: 20379614 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.2 | Low |
| Pancreas | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.8 | Medium expression |
| K562 | 6.4 | Low expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs203462 (I646V) | Missense | 0.23 (global) | Alters PKA binding affinity |
| c.1937C>T | Nonsense | <0.01 | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.1937C>T) produce truncated protein lacking PKA-binding domain.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
I646V variant may compete with wild-type AKAP10 for PKA binding, reducing signaling fidelity.
View complete mutation data：
Gene Ontology (GO)
| • GO:0034236 – protein kinase A anchoring | • GO:0005739 – mitochondrion |
| • GO:0005515 – protein binding | • GO:0005096 – GTPase activator activity |
Pathways
• cAMP/PKA signaling pathway (Reactome: R-HSA-163615)
• G alpha (i) signaling events (Reactome: R-HSA-418594)
Protein Summary
AKAP10 is a 662-amino acid protein with two N-terminal RGS domains and a C-terminal PKA-binding domain. It localizes to the mitochondrial outer membrane, where it scaffolds PKA and regulates local cAMP signaling. The protein modulates ion channel activity, insulin granule exocytosis, and mitochondrial dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAP10 Knockout HEK293 Cell Line | EDJ-KQ6696 | Human | 11216 | Details Get a Quote |
| AKAP10 Knockout A-549 Cell Line | EDJ-KQ32423 | Human | 11216 | Details Get a Quote |
| AKAP10 Knockout HCT 116 Cell Line | EDJ-KQ32424 | Human | 11216 | Details Get a Quote |
| AKAP10 Knockout HeLa Cell Line | EDJ-KQ32425 | Human | 11216 | Details Get a Quote |
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