GSC2
Chr 22goosecoid homeobox 2
Also known as: GSCL
GSC2 encodes a homeodomain-containing transcription factor that may regulate its own transcription and bind specific DNA sequences during development. The gene is located in the 22q11 deletion region associated with velocardiofacial syndrome and DiGeorge syndrome, which are characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. These syndromes follow an autosomal dominant inheritance pattern due to hemizygous deletions, and the gene shows low constraint to loss-of-function variation in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
GSC2 · 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