DIPK2B
Chr Xdivergent protein kinase domain 2B
Also known as: 4930578C19Rik, CXorf36, DIA1R, EPQL1862, PRO3743, bA435K1.1
DIPK2B is predicted to be located in the extracellular region, though its specific protein function remains unclear. The gene shows low constraint against loss-of-function variants (LOEUF 1.355), suggesting tolerance to such changes. Currently, no well-established human diseases have been definitively linked to DIPK2B mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
113 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 52 | 0 | 52 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 2 | 15 | 0 | 17 |
Likely Benign | 0 | 1 | 2 | 5 | 8 |
Benign | 0 | 5 | 0 | 1 | 6 |
| Total | 0 | 8 | 72 | 6 | 86 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DIPK2B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools