FITM2 fat storage inducing transmembrane protein 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FITM2provided by HGNC
Official Full Name: fat storage inducing transmembrane protein 2provided by HGNC
Primary source: HGNC:HGNC:16135
See related: Ensembl:ENSG00000197296 MIM:612029; AllianceGenome:HGNC:16135
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Fit2; SIDDIS; C20orf142; dJ881L22.2
Summary: 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, Dec 2024]
Expression: Broad expression in heart (RPKM 23.3), fat (RPKM 9.0) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (44302840..44311202, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (46037576..46054738, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (42931480..42939842, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High FITM2 expression promotes cell migration ability of hepatocellular carcinoma by regulating the formation of caveolae and indicates poor patient survival.
Title: High FITM2 expression promotes cell migration ability of hepatocellular carcinoma by regulating the formation of caveolae and indicates poor patient survival.
FIT2 organizes lipid droplet biogenesis with ER tubule-forming proteins and septins.
Title: FIT2 organizes lipid droplet biogenesis with ER tubule-forming proteins and septins.
FIT2 is an acyl-coenzyme A diphosphatase crucial for endoplasmic reticulum homeostasis.
Title: FIT2 is an acyl-coenzyme A diphosphatase crucial for endoplasmic reticulum homeostasis.
Low FIT2 expression is associated with type 2 diabetes.
Title: Fat storage-inducing transmembrane protein 2 (FIT2) is less abundant in type 2 diabetes, and regulates triglyceride accumulation and insulin sensitivity in adipocytes.
In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference.
Title: A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Siddiqi syndrome MedGen: C5231435 OMIM: 618635 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:9484

D8S2279 (e-PCR)
- UniSTS:473907

A004C16 (e-PCR)
- UniSTS:5720

D1S1423 (e-PCR)
- UniSTS:149619

D16S325 (e-PCR)
- UniSTS:147089

RH79770 (e-PCR)
- UniSTS:90520

STS-Z40740 (e-PCR)
- UniSTS:17368

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables coenzyme A diphosphatase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables diacylglycerol binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables triglyceride binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fatty-acyl-CoA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular triglyceride homeostasis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in lipid droplet formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid droplet formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid droplet organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipid droplet organization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in lipid homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid storage	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of sequestering of triglyceride	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of triglyceride biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in sequestering of triglyceride	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: acyl-coenzyme A diphosphatase FITM2

Names: fat-inducing protein 2; fat-inducing transcript 2

NP_001073941.1

EC 3.6.1.-

XP_054178917.1

EC 3.6.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.