GBX2
Chr 2gastrulation brain homeobox 2
This transcription factor regulates nervous system development and embryonic cell differentiation through sequence-specific DNA binding. Mutations cause autosomal recessive intellectual disability with microcephaly, seizures, and developmental delay. The gene is moderately constrained against loss-of-function variants, and the associated phenotypes primarily affect the nervous system during early development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
125 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 | 62 | 0 | 62 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 48 | 8 | 0 | 56 |
Likely Benign | 0 | 0 | 2 | 1 | 3 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 0 | 49 | 73 | 2 | 124 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GBX2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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