GNB1L
Chr 22G protein subunit beta 1 like
Also known as: DGCRK3, FKSG1, GY2, WDR14, WDVCF
The protein acts as a critical regulator of DNA damage response signaling by specifically regulating phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins and contains 6 WD repeats that facilitate formation of multiprotein complexes. Mutations cause autosomal recessive intellectual disability with seizures and variable features including microcephaly and developmental delay. The gene is not highly constrained against loss-of-function variants and maps to chromosome 22q11, a region associated with DiGeorge syndrome when deleted.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GNB1L · 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 →External Resources
Links to major genomics databases and tools