ESS2
Chr 22ess-2 splicing factor homolog
The ESS2 protein is involved in pre-mRNA splicing and may function as a component of C complex spliceosomes. Mutations cause developmental disorders including DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome, typically arising from 22q11.2 microdeletions that encompass this gene along with others in the minimal DiGeorge critical region. These disorders follow an autosomal dominant inheritance pattern and primarily affect cardiac, craniofacial, and immune system development.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
ESS2 · 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