FITM2
Chr 20ARfat storage inducing transmembrane protein 2
Also known as: C20orf142, Fit2, SIDDIS, dJ881L22.2
The protein functions as a fatty acyl-coenzyme A diphosphatase in the endoplasmic reticulum, hydrolyzing fatty acyl-CoA substrates and maintaining ER structure and lipid droplet biogenesis for cellular lipid and energy homeostasis. Mutations cause Siddiqi syndrome, inherited in an autosomal recessive pattern. The gene shows low constraint to loss-of-function variation, consistent with recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
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
FITM2 · 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