FITM2

Chr 20AR

fat storage inducing transmembrane protein 2

Also known as: C20orf142, Fit2, SIDDIS, dJ881L22.2

NCBI Gene: 128486ENSG00000197296UniProt: Q8N6M3OMIM: 612029

Enables coenzyme A diphosphatase activity. Involved in fatty-acyl-CoA catabolic process; lipid droplet formation; and lipid homeostasis. Predicted to be active in endoplasmic reticulum membrane. Implicated in Siddiqi syndrome. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Siddiqi syndromeMIM #618635
AR

Clinical highlights

Gene-disease validity (ClinGen)
Siddiqi syndrome · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.55
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.55LOEUF
pLI 0.000
Z-score 0.29
OE 0.90 (0.54–1.55)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.60Z-score
OE missense 0.86 (0.74–1.00)
122 obs / 142.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.54–1.55)
0≤0.351.4
Missense OE?0.86 (0.74–1.00)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 9 / 10.0Missense obs/exp: 122 / 142.0Syn Z: -0.72

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients