FITM2 Chromosome 20
Fat storage inducing transmembrane protein 2
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What This Gene Does
Enables coenzyme A diphosphatase activity. Involved in several processes, including fatty-acyl-CoA catabolic process; lipid droplet formation; and lipid homeostasis. Predicted to be located in endoplasmic reticulum and membrane. Predicted to be active in endoplasmic reticulum membrane. Implicated in Siddiqi syndrome. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (1)
Siddiqi syndrome
Key Variants
RS765281145
Conflicting classifications of pathogenicity
Siddiqi syndrome, Siddiqi syndrome
Health Risk
RS2062693263
Likely pathogenic
Health Risk
RS891516151
Likely pathogenic
Siddiqi syndrome, Siddiqi syndrome
Health Risk
RS913653009
Likely pathogenic
Siddiqi syndrome, Siddiqi syndrome
Health Risk
RS1004658892
Pathogenic
Siddiqi syndrome, Siddiqi syndrome
Health Risk
RS1255226703
Pathogenic
Siddiqi syndrome, Siddiqi syndrome
Health Risk
RS1314404716
Pathogenic
Health Risk
RS773801337
Pathogenic
Siddiqi syndrome, Siddiqi syndrome
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765281145 | Health Risk | Conflicting classifications of pathogenicity | Siddiqi syndrome, Siddiqi syndrome |
| RS2062693263 | Health Risk | Likely pathogenic | — |
| RS891516151 | Health Risk | Likely pathogenic | Siddiqi syndrome, Siddiqi syndrome |
| RS913653009 | Health Risk | Likely pathogenic | Siddiqi syndrome, Siddiqi syndrome |
| RS1004658892 | Health Risk | Pathogenic | Siddiqi syndrome, Siddiqi syndrome |
| RS1255226703 | Health Risk | Pathogenic | Siddiqi syndrome, Siddiqi syndrome |
| RS1314404716 | Health Risk | Pathogenic | — |
| RS773801337 | Health Risk | Pathogenic | Siddiqi syndrome, Siddiqi syndrome |