GO_REF:0000002
Gene Ontology annotation through association of InterPro records with GO terms
GO_REF:0000024
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
GO_REF:0000033
Annotation inferences using phylogenetic trees
GO_REF:0000107
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
GO_REF:0000120
Combined Automated Annotation using Multiple IEA Methods
Reactome:R-HSA-8857686
FITM2 binds TAGs
Reactome:R-HSA-8964572
Lipid particle organization
PMID:11780052
The DNA sequence and comparative analysis of human chromosome 20.
PMID:15489334
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PMID:18160536
Evolutionarily conserved gene family important for fat storage.
PMID:21834987
Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration.
PMID:28067622
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
PMID:28514442
Architecture of the human interactome defines protein communities and disease networks.
PMID:30214770
The first case of deafness-dystonia syndrome due to compound heterozygous variants in FITM2.
PMID:30288795
First replication that biallelic variants in FITM2 cause a complex deafness-dystonia syndrome.
PMID:32296183
A reference map of the human binary protein interactome.
PMID:32915949
FIT2 is an acyl-coenzyme A diphosphatase crucial for endoplasmic reticulum homeostasis.
PMID:33961781
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
PMID:39390519
Author Correction: Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration.
PMID:22106267
Direct binding of triglyceride to fat storage-inducing transmembrane proteins 1 and 2 is important for lipid droplet formation.
PMID:24519944
Fat storage-inducing transmembrane protein 2 is required for normal fat storage in adipose tissue.
UniProt:Q8N6M3
UniProtKB Q8N6M3: human FITM2
file:human/FITM2/FITM2-evidence.yaml
FITM2 source evidence, target ancestry and assay boundaries
file:human/FITM2/FITM2-notes.md
FITM2 curation notes and evidence guide