FITM2

Chr 20q13.12

fat storage inducing transmembrane protein 2

Aliases:: dJ881L22.2, FIT2
MANE:: ENST00000396825.4

OMIM: 612029 ↗NCBI: 128486 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

FITM2 · Q8N6M3

v62025-08-01

Predicted Aligned Error matrix for FITM2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.9/ 100

Confident

262 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)38%
Low(50–70)3%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Siddiqi syndrome
0.73
atrial fibrillation
0.47
type 2 diabetes mellitus
0.36
hypoplastic left heart syndrome
0.05
Rare familial disorder with hypertrophic cardiomyopathy
0.05
familial isolated dilated cardiomyopathy
0.04
left ventricular noncompaction
0.04
familial isolated restrictive cardiomyopathy
0.04
hypertrophic cardiomyopathy 21
0.04
hypertrophic cardiomyopathy 25
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Acyl-coenzyme A diphosphatase FITM2

Fatty acyl-coenzyme A (CoA) diphosphatase that hydrolyzes fatty acyl-CoA to yield acyl-4'-phosphopantetheine and adenosine 3',5'-bisphosphate (By similarity) (PubMed:32915949). Preferentially hydrolyzes unsaturated long-chain acyl-CoA substrates such as oleoyl-CoA/(9Z)-octadecenoyl-CoA and arachidonoyl-CoA/(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA in the endoplasmic reticulum (ER) lumen (By similarity) (PubMed:32915949). This catalytic activity is required for maintaining ER structure and for lipid droplets (LDs) biogenesis, which are lipid storage organelles involved in maintaining lipid and energy homeostasis (By similarity) (PubMed:18160536, PubMed:32915949). Directly binds to diacylglycerol (DAGs) and triacylglycerol, which is also important for LD biogenesis (By similarity). May support directional budding of nacent LDs from the ER into the cytosol by reducing DAG levels at sites of LD formation (By similarity). Plays a role in the regulation of cell morphology and cytoskeletal organization (PubMed:21834987)