AKAP12: A-Kinase Anchoring Protein 12
Scaffold protein regulating cell signaling, cytoskeleton, and tumor suppression
Gene Information Card
| Symbol | AKAP12 |
|---|---|
| Full Name | A-Kinase Anchoring Protein 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q24.2-q25.1 |
| NCBI Gene ID | 9590 ncbi.nlm.nih.gov/gene/9590 |
| Ensembl ID | ENSG00000131016 |
| UniProt ID | Q02952 |
| OMIM ID | 604698 |
| HGNC ID | 368 |
| Aliases | AKAP250, gravin, SSeCKS |
Description
AKAP12 (A-Kinase Anchoring Protein 12) encodes a scaffold protein that anchors protein kinase A (PKA) and other signaling molecules to specific subcellular compartments. It regulates cytoskeletal dynamics, cell adhesion, migration, and proliferation. AKAP12 is considered a tumor suppressor, with loss of expression frequently observed in various cancers, contributing to metastasis and poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Loss of AKAP12 expression leads to disrupted PKA signaling, increased cell migration, and metastasis. | PMID: 19029980, COSMIC |
| Prostate Cancer | Downregulation of AKAP12 promotes androgen-independent growth and invasion. | PMID: 15696213 |
| Breast Cancer | Reduced AKAP12 correlates with aggressive phenotype and poor survival. | PMID: 21746836 |
| Colorectal Cancer | Epigenetic silencing of AKAP12 via promoter methylation is common. | PMID: 20628033 |
| Cardiovascular Disease | AKAP12 modulates vascular smooth muscle cell migration and neointima formation. | PMID: 12021255 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.8 | Medium |
| Thyroid | 11.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney, moderate expression |
| HeLa | 8.2 | Cervical cancer, reduced expression |
| MCF7 | 5.1 | Breast cancer, low expression |
| A549 | 6.8 | Lung cancer, low expression |
| HepG2 | 3.9 | Hepatocellular carcinoma, very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Truncation, loss of function |
| c.567_568insA | Frameshift | <0.1% | Loss of protein function |
| c.890G>A (p.Arg297Gln) | Missense | <0.1% | Unknown significance |
| Promoter methylation | Epigenetic | Common in cancers | Transcriptional silencing |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing PKA anchoring and cytoskeletal regulation.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 - protein binding | • GO:0005737 - cytoplasm |
| • GO:0005856 - cytoskeleton | • GO:0007165 - signal transduction |
| • GO:0030154 - cell differentiation | • GO:0043123 - positive regulation of I-kappaB kinase/NF-kappaB signaling |
| • GO:0051017 - actin filament bundle assembly |
Pathways
• PKA-mediated signaling (Reactome: R-HSA-163615)
• cAMP/PKA signaling (KEGG: hsa04024)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
Protein Summary
AKAP12 is a 1786-amino acid scaffold protein that binds the regulatory subunit of PKA (PRKAR2A) and targets it to the plasma membrane and cytoskeleton. It also interacts with PKC, calmodulin, and actin. Through these interactions, AKAP12 modulates cell adhesion, migration, and proliferation. Its loss in cancer promotes metastatic behavior, making it a potential biomarker and therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAP12 Knockout HEK293 Cell Line | EDJ-KQ6648 | Human | 9590 | Details Get a Quote |
| AKAP12 Knockout A-549 Cell Line | EDJ-KQ30934 | Human | 9590 | Details Get a Quote |
| AKAP12 Knockout HCT 116 Cell Line | EDJ-KQ30935 | Human | 9590 | Details Get a Quote |
| AKAP12 Knockout HeLa Cell Line | EDJ-KQ30936 | Human | 9590 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
