PKIB
cAMP-dependent protein kinase inhibitor beta
Gene Information Card
| Symbol | PKIB |
|---|---|
| Full Name | cAMP-dependent protein kinase inhibitor beta |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 5570 ncbi.nlm.nih.gov/gene/5570 |
| Ensembl ID | ENSG00000105552 |
| UniProt ID | Q9C010 |
| OMIM ID | 606914 |
| HGNC ID | 9019 |
| Aliases | PKI-beta, PRKACN2 |
Description
The PKIB gene encodes the beta isoform of the cAMP-dependent protein kinase inhibitor (PKI). This protein binds to the catalytic subunit of PKA (protein kinase A) and inhibits its activity, thereby regulating cAMP-mediated signaling pathways. PKIB is involved in cellular processes such as differentiation, proliferation, and metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered PKIB expression may modulate PKA signaling, affecting cell growth and survival. | COSMIC, literature |
| No specific monogenic disease association reported | N/A | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.1 | Low |
| Heart | 2.8 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Moderate expression |
| HeLa | 2.5 | Low expression |
| K562 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential reduction in PKA inhibition.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • cAMP-dependent protein kinase inhibitor activity (GO:0004862) | • cytoplasm (GO:0005737) |
| • protein binding (GO:0005515) |
Pathways
• cAMP-PKA signaling pathway (Reactome R-HSA-163615)
Protein Summary
PKIB encodes a 76-amino acid protein that functions as a specific inhibitor of the catalytic subunit of cAMP-dependent protein kinase (PKA). It contains a pseudosubstrate sequence that binds to the active site of PKA, preventing substrate phosphorylation. The protein is predominantly cytoplasmic and plays a role in fine-tuning PKA activity in response to cAMP levels.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PKIB Knockout HEK293 Cell Line | EDJ-KQ5533 | Human | 5570 | Details Get a Quote |
| PKIB Knockout HCT 116 Cell Line | EDJ-KQ28784 | Human | 5570 | Details Get a Quote |
| PKIB Knockout HeLa Cell Line | EDJ-KQ28785 | Human | 5570 | Details Get a Quote |
| PKIB Knockout A-549 Cell Line | EDJ-KQ62705 | Human | 5570 | Details Get a Quote |
