Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	128486
Gene name	Fat storage inducing transmembrane protein 2
Gene symbol	FITM2
Synonyms (NCBI Gene)	C20orf142Fit2SIDDISdJ881L22.2
Chromosome	20
Chromosome location	20q13.12
Summary	FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs765281145	C>T	Pathogenic	Coding sequence variant, missense variant
rs773801337	G>A	Pathogenic	Coding sequence variant, stop gained
rs1004658892	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1255226703	->C	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all (89)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002523	hsa-miR-373-3p	Microarray	15685193
MIRT688251	hsa-miR-6854-5p	HITS-CLIP	23313552
MIRT678250	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT688250	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT688249	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT688248	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT688247	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT678248	hsa-miR-1304-3p	HITS-CLIP	23313552
MIRT688246	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT688245	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT688244	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT688243	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT688242	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT688241	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT688240	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT688239	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT688238	hsa-miR-6836-3p	HITS-CLIP	23313552
MIRT688237	hsa-miR-498	HITS-CLIP	23313552
MIRT637042	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT678250	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT678249	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT678248	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT678247	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT637041	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT678246	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT678245	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT678244	hsa-miR-4466	HITS-CLIP	23824327
MIRT678243	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT678242	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT637040	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT637042	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT637041	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT637040	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT497246	hsa-miR-935	PAR-CLIP	22291592
MIRT497245	hsa-miR-4797-3p	PAR-CLIP	22291592
MIRT497244	hsa-miR-4264	PAR-CLIP	22291592
MIRT497243	hsa-miR-509-3p	PAR-CLIP	22291592
MIRT497242	hsa-miR-569	PAR-CLIP	22291592
MIRT497241	hsa-miR-155-5p	PAR-CLIP	22291592
MIRT497240	hsa-miR-5089-3p	PAR-CLIP	22291592
MIRT497239	hsa-miR-1269a	PAR-CLIP	22291592
MIRT497238	hsa-miR-1269b	PAR-CLIP	22291592
MIRT497237	hsa-miR-5009-5p	PAR-CLIP	22291592
MIRT497236	hsa-miR-8058	PAR-CLIP	22291592
MIRT497235	hsa-miR-4529-3p	PAR-CLIP	22291592
MIRT688251	hsa-miR-6854-5p	HITS-CLIP	23313552
MIRT678250	hsa-miR-6890-3p	HITS-CLIP	23313552
MIRT688250	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT688249	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT688248	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT688247	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT678248	hsa-miR-1304-3p	HITS-CLIP	23313552
MIRT688246	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT688245	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT688244	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT688243	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT688242	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT688241	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT688240	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT688239	hsa-miR-5001-3p	HITS-CLIP	23313552
MIRT688238	hsa-miR-6836-3p	HITS-CLIP	23313552
MIRT688237	hsa-miR-498	HITS-CLIP	23313552
MIRT637042	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT678250	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT678249	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT678248	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT678247	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT637041	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT678246	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT678245	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT678244	hsa-miR-4466	HITS-CLIP	23824327
MIRT678243	hsa-miR-675-5p	HITS-CLIP	23824327
MIRT678242	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT637040	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT637042	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT637041	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT637040	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT497246	hsa-miR-935	PAR-CLIP	22291592
MIRT497245	hsa-miR-4797-3p	PAR-CLIP	22291592
MIRT497244	hsa-miR-4264	PAR-CLIP	22291592
MIRT497243	hsa-miR-509-3p	PAR-CLIP	22291592
MIRT497242	hsa-miR-569	PAR-CLIP	22291592
MIRT497241	hsa-miR-155-5p	PAR-CLIP	22291592
MIRT497240	hsa-miR-5089-3p	PAR-CLIP	22291592
MIRT497239	hsa-miR-1269a	PAR-CLIP	22291592
MIRT497238	hsa-miR-1269b	PAR-CLIP	22291592
MIRT497237	hsa-miR-5009-5p	PAR-CLIP	22291592
MIRT497236	hsa-miR-8058	PAR-CLIP	22291592
MIRT497235	hsa-miR-4529-3p	PAR-CLIP	22291592

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS	18160536
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006641	Process	Triglyceride metabolic process	ISS	18160536
GO:0007010	Process	Cytoskeleton organization	IMP	21834987
GO:0008654	Process	Phospholipid biosynthetic process	IBA
GO:0010945	Function	Coenzyme A diphosphatase activity	IEA
GO:0010945	Function	Coenzyme A diphosphatase activity	IMP	32915949
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017129	Function	Triglyceride binding	IEA
GO:0017129	Function	Triglyceride binding	ISS
GO:0019915	Process	Lipid storage	IBA
GO:0019915	Process	Lipid storage	IEA
GO:0019992	Function	Diacylglycerol binding	IEA
GO:0019992	Function	Diacylglycerol binding	ISS
GO:0022604	Process	Regulation of cell morphogenesis	IMP	21834987
GO:0030730	Process	Triglyceride storage	IEA
GO:0034389	Process	Lipid droplet organization	IBA
GO:0034389	Process	Lipid droplet organization	IEA
GO:0034389	Process	Lipid droplet organization	ISS	18160536
GO:0035356	Process	Intracellular triglyceride homeostasis	IEA
GO:0035356	Process	Intracellular triglyceride homeostasis	ISS	18160536
GO:0036115	Process	Fatty-acyl-CoA catabolic process	IMP	32915949
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS	18160536
GO:0055088	Process	Lipid homeostasis	IMP	32915949
GO:0140042	Process	Lipid droplet formation	IEA
GO:0140042	Process	Lipid droplet formation	IMP	32915949
GO:0140042	Process	Lipid droplet formation	ISS

MIM	HGNC	e!Ensembl
612029	16135	ENSG00000197296

Q8N6M3

Protein name

Acyl-coenzyme A diphosphatase FITM2 (EC 3.6.1.-) (Fat storage-inducing transmembrane protein 2) (Fat-inducing protein 2)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10261	Scs3p	45 → 190	Inositol phospholipid synthesis and fat-storage-inducing TM	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:18160536}.

Sequence

MEHLERCEWLLRGTLVRAAVRRYLPWALVASMLAGSLLKELSPLPESYLSNKRNVLNVYF
VKVAWAWTFCLLLPFIALTNYHLTGKAGLVLRRLSTLLVGTAIWYICTSIFSNIEHYTGS
CYQSPALEGVRKEHQSKQQCHQEGGFWHGFDISGHSFLLTFCALMIVEEMSVLHEVKTDR
SHCLHTAITTLVVALGILTFIWVLMFLCTAVYFHNLSQKVFGTLFGLLSWYGTYGFWYPK
AFSPGLPPQSCSLNLKQDSYKK

Sequence length

262

Interactions

View interactions

	Reactome
			Lipid particle organization

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Siddiqi syndrome	Likely pathogenic; Pathogenic	rs891516151, rs913653009, rs1004658892, rs1255226703, rs773801337	RCV003148242 RCV003148302 RCV000853568 RCV000853569 RCV000853570	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
FITM2-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	28067622	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27862917, 30020828	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	28067622	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	28067622	★★★★★ ★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	28067622	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	28067622	★★★★★ ★☆☆☆☆ Found in Text Mining only

FITM2 (fat storage inducing transmembrane protein 2)