PRKD2 Gene: Protein Kinase D2 - Function, Disease Associations, and Expression
A comprehensive overview of PRKD2, including its genomic context, protein function, expression patterns, and clinical significance.
Gene Information Card
| Symbol | PRKD2 |
|---|---|
| Full Name | Protein Kinase D2 |
| Gene Type | protein coding |
| Chromosomal Location | 19q13.3 |
| NCBI Gene ID | 25865 ncbi.nlm.nih.gov/gene/25865 |
| Ensembl ID | ENSG00000105287 |
| UniProt ID | Q9BZL6 |
| OMIM ID | 605307 |
| HGNC ID | 17229 |
| Aliases | PKD2; nPKC-D2; FLJ42931 |
Description
PRKD2 (Protein Kinase D2) is a serine/threonine kinase belonging to the protein kinase D (PKD) family. It is involved in various cellular processes including signal transduction, cell proliferation, differentiation, and apoptosis. PRKD2 is activated by diacylglycerol (DAG) and protein kinase C (PKC) signaling. It plays roles in immune response, cardiac function, and cancer biology. The gene is located on chromosome 19q13.3 and encodes a protein of approximately 105 kDa. PRKD2 has been implicated in several diseases, including cancer and cardiovascular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered PRKD2 expression/activity affects cell survival, proliferation, and invasion; may act as tumor suppressor or oncogene depending on context. | COSMIC; PubMed studies (e.g., PMID: 23455423, 26343037) |
| Cardiac hypertrophy | PRKD2 regulates cardiac gene expression and hypertrophy via HDAC5 phosphorylation. | OMIM; PubMed (PMID: 19221193) |
| Immunodeficiency (rare) | Loss-of-function mutations in PRKD2 impair B-cell receptor signaling and antibody production. | OMIM; ClinVar (e.g., RCV000022541) |
| Type 2 diabetes (susceptibility) | PRKD2 variants may influence insulin secretion and glucose metabolism. | GWAS; PubMed (PMID: 20081858) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.6 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.5 | Low |
| Liver | 4.3 | Low |
| Kidney | 7.8 | Low |
| Testis | 15.4 | Medium |
| Spleen | 9.1 | Low |
| Pancreas | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line; moderate expression |
| K-562 | 8.9 | Chronic myelogenous leukemia; low-moderate |
| MCF7 | 7.2 | Breast cancer; low |
| A549 | 6.8 | Lung carcinoma; low |
| HEK293 | 11.3 | Embryonic kidney; moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1126C>T (p.Arg376Trp) | Missense | Rare (MAF <0.01) | Loss of kinase activity; associated with immunodeficiency |
| c.2146A>G (p.Thr716Ala) | Missense | Rare | Altered substrate specificity; potential oncogenic effect |
| c.1234G>A (p.Glu412Lys) | Missense | Rare | Unknown; possibly neutral |
| c.1778delC (p.Pro593Leufs*2) | Frameshift | Very rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish kinase activity, leading to impaired signaling. Examples include p.Arg376Trp and frameshift mutations. These are associated with immunodeficiency and possibly increased cancer risk.
Gain of Function (GOF)
Mutations that enhance kinase activity or alter substrate specificity, potentially promoting oncogenic signaling. Some missense variants like p.Thr716Ala may have gain-of-function effects, but evidence is limited.
Dominant Negative (DN)
Mutations that produce a truncated or inactive protein that interferes with wild-type PRKD2 function. Frameshift mutations near the C-terminus may act in this manner.
View complete mutation data：
Gene Ontology (GO)
| • protein serine/threonine kinase activity | • ATP binding |
| • signal transduction | • cell proliferation |
| • apoptotic process | • protein phosphorylation |
| • intracellular signal transduction | • response to oxidative stress |
Pathways
• VEGF signaling pathway
• ErbB signaling pathway
• Fc epsilon RI signaling pathway
• T cell receptor signaling pathway
• B cell receptor signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
PRKD2 is a serine/threonine kinase that contains a DAG-binding C1 domain, a pleckstrin homology (PH) domain, and a catalytic kinase domain. It is activated by DAG and PKC, leading to its phosphorylation and translocation to various cellular compartments. PRKD2 phosphorylates multiple substrates including HDAC5, which regulates gene expression. It plays roles in cell survival, proliferation, differentiation, and immune responses. In the heart, PRKD2 is involved in stress-induced cardiac remodeling. In cancer, PRKD2 has dual roles: it can act as a tumor suppressor in some contexts (e.g., pancreatic cancer) or promote tumor progression in others (e.g., breast cancer).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRKD2 Knockout HEK293 Cell Line | EDJ-KQ1313 | Human | 25865 | Details Get a Quote |
| PRKD2 Knockout A-549 Cell Line | EDJ-KQ20737 | Human | 25865 | Details Get a Quote |
| PRKD2 Knockout HCT 116 Cell Line | EDJ-KQ20738 | Human | 25865 | Details Get a Quote |
| PRKD2 Knockout HeLa Cell Line | EDJ-KQ20739 | Human | 25865 | Details Get a Quote |
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