Format

Send to:

Choose Destination

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

Gene ID: 128486, updated on 25-Jan-2022

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
FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]
Expression
Broad expression in heart (RPKM 23.3), fat (RPKM 9.0) and 21 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See FITM2 in Genome Data Viewer
Location:
20q13.12
Exon count:
2
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (44302840..44311202, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (42931480..42939842, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene oxidative stress responsive serine rich 1 Neighboring gene OSER1 divergent transcript Neighboring gene Sharpr-MPRA regulatory region 13448 Neighboring gene ganglioside induced differentiation associated protein 1 like 1 Neighboring gene R3HDML antisense RNA 1 Neighboring gene R3H domain containing like Neighboring gene HNF4A antisense RNA 1 Neighboring gene hepatocyte nuclear factor 4 alpha

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC30135

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables CoA pyrophosphatase 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 cellular triglyceride homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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 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
PubMed 
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
PubMed 
involved_in phospholipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
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
 
is_active_in integral component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
acyl-coenzyme A diphosphatase FITM2
Names
fat-inducing protein 2
fat-inducing transcript 2
NP_001073941.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_001080472.4NP_001073941.1  acyl-coenzyme A diphosphatase FITM2

    See identical proteins and their annotated locations for NP_001073941.1

    Status: VALIDATED

    Source sequence(s)
    AL117382, KF456918
    Consensus CDS
    CCDS33473.1
    UniProtKB/Swiss-Prot
    Q8N6M3
    Related
    ENSP00000380037.3, ENST00000396825.4
    Conserved Domains (1) summary
    pfam10261
    Location:47234
    Scs3p; Inositol phospholipid synthesis and fat-storage-inducing TM

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    44302840..44311202 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center