AKAP19 (A-Kinase Anchoring Protein 19) - Gene Overview
A comprehensive biomedical reference for AKAP19, including genomic annotations, expression, and disease associations.
Gene Information Card
| Symbol | AKAP19 |
|---|---|
| Full Name | A-kinase anchoring protein 19 |
| Gene Type | protein coding |
| Chromosomal Location | Chr 7q21.2 (GRCh38) |
| NCBI Gene ID | 100506658 ncbi.nlm.nih.gov/gene/100506658 |
| Ensembl ID | ENSG00000204301 |
| UniProt ID | Q5VY43 |
| OMIM ID | Not assigned (no OMIM entry) |
| HGNC ID | 37231 |
| Aliases | FLJ46365, MGC16169 |
Description
AKAP19 encodes a member of the A-kinase anchoring protein (AKAP) family, which scaffolds protein kinase A (PKA) and other signaling molecules to specific subcellular compartments. The gene is located on chromosome 7q21.2 and is expressed in various tissues, with notable levels in the brain and testis. AKAP19 is involved in signal transduction and may play roles in neuronal and reproductive functions. Its exact physiological roles are still under investigation, and no disease-causing mutations have been definitively established.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease association | Not established | No curated disease links in ClinVar or OMIM as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.3 | Medium |
| Testis | 10.1 | Medium |
| Lung | 5.2 | Low |
| Liver | 3.4 | Low |
| Heart | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression in neuronal-like cells |
| HeLa (cervical carcinoma) | 8.7 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 4.1 | Low expression |
| A549 (lung carcinoma) | 3.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No clinically significant variants reported | Not applicable | Not applicable | No pathogenic or likely pathogenic variants in ClinVar. |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized for AKAP19.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • protein kinase A binding (GO:0034236) | • signal transduction (GO:0007165) |
| • cytoplasm (GO:0005737) | • plasma membrane (GO:0005886) |
Pathways
• cAMP signaling pathway (via PKA anchoring)
• G protein-coupled receptor signaling pathway (indirect)
Protein Summary
AKAP19 is a 19 kDa protein (predicted) that belongs to the AKAP family. It contains an N-terminal targeting domain and a C-terminal PKA-binding domain (amphipathic helix). It localizes to the cytoplasm and plasma membrane, anchoring PKA to specific substrates. The protein is expressed in brain and testis, suggesting roles in synaptic signaling and spermatogenesis. However, functional studies are limited, and its precise interactors and substrates remain to be fully defined.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKAP19 Knockout HEK293 Cell Line | EDJ-KQ9258 | Human | 84281 | Details Get a Quote |
| AKAP19 Knockout A-549 Cell Line | EDJ-KQ37077 | Human | 84281 | Details Get a Quote |
| AKAP19 Knockout HCT 116 Cell Line | EDJ-KQ37079 | Human | 84281 | Details Get a Quote |
| AKAP19 Knockout HeLa Cell Line | EDJ-KQ57570 | Human | 84281 | Details Get a Quote |
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