DIPK2A Gene - Divergent Protein Kinase Domain 2A
Comprehensive genomic and functional analysis of DIPK2A
Gene Information Card
| Symbol | DIPK2A |
|---|---|
| Full Name | divergent protein kinase domain 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 3q26.33 |
| NCBI Gene ID | 100506334 ncbi.nlm.nih.gov/gene/100506334 |
| Ensembl ID | ENSG00000204099 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617777 |
| HGNC ID | 44273 |
| Aliases | C3orf58, FAM198A, bA203J24.7 |
Description
DIPK2A (divergent protein kinase domain 2A) is a protein-coding gene located on chromosome 3q26.33. It encodes a protein with a divergent protein kinase domain, suggesting potential roles in cellular signaling. The gene is also known as C3orf58, FAM198A, and bA203J24.7. Expression data indicate broad tissue distribution with highest levels in the brain and testis. Limited functional studies suggest involvement in cell proliferation and differentiation. Mutations in DIPK2A have been reported in cancer, though specific disease associations remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung adenocarcinoma | Potential oncogenic role; overexpression observed | PubMed (limited studies) |
| Colorectal cancer | Altered expression linked to tumor progression | PubMed (limited studies) |
| Glioblastoma | Upregulation in aggressive subtypes | PubMed (limited studies) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 5.8 | Low |
| Colon | 4.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung cancer) | 8.9 | Moderate expression |
| HCT116 (colorectal cancer) | 6.4 | Low expression |
| U87MG (glioblastoma) | 11.3 | High expression |
| HEK293 (embryonic kidney) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; predicted benign |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Unknown; predicted tolerated |
| c.412_413insA | Frameshift | <0.01% | Loss of function predicted |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.412_413insA) are predicted to cause loss of function via premature truncation.
Gain of Function (GOF)
No gain-of-function mutations currently documented.
Dominant Negative (DN)
No dominant-negative mutations currently documented.
View complete mutation data：
Gene Ontology (GO)
| • protein kinase activity (GO:0004672) | • ATP binding (GO:0005524) |
| • kinase activity (GO:0016301) | • metal ion binding (GO:0046872) |
Pathways
• No curated pathways currently available
Protein Summary
The DIPK2A protein (UniProt A6NKD9) is 448 amino acids long and contains a divergent protein kinase domain. It is predicted to localize to the cytoplasm and nucleus. The protein may function as a kinase involved in signal transduction, though its exact substrates and biological roles remain to be fully elucidated. Expression is enriched in brain and testis, suggesting roles in neural and reproductive processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DIPK2A Knockout HEK293 Cell Line | EDJ-KQ6165 | Human | 205428 | Details Get a Quote |
| DIPK2A Knockout A-549 Cell Line | EDJ-KQ29982 | Human | 205428 | Details Get a Quote |
| DIPK2A Knockout HeLa Cell Line | EDJ-KQ29983 | Human | 205428 | Details Get a Quote |
| DIPK2A Knockout HCT 116 Cell Line | EDJ-KQ28672 | Human | 205428 | Details Get a Quote |
