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

    Gene ID: 128486, updated on 30-Oct-2024

    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, Oct 2024]
    Expression
    Broad expression in heart (RPKM 23.3), fat (RPKM 9.0) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See FITM2 in Genome Data Viewer
    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_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42875650-42876448 Neighboring gene Sharpr-MPRA regulatory region 13448 Neighboring gene ganglioside induced differentiation associated protein 1 like 1 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:42900885-42901394 Neighboring gene Sharpr-MPRA regulatory region 2613 Neighboring gene uncharacterized LOC124904910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42938689-42939418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42939419-42940148 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:42952746-42953298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42962599-42963110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42964365-42965354 Neighboring gene R3H domain containing like Neighboring gene R3HDML antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:42981671-42982170 Neighboring gene HNF4A antisense RNA 1 Neighboring gene hepatocyte nuclear factor 4 alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17923 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:43017550-43018051

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Clone Names

    • MGC30135

    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

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

    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
      A1L492, B9EGQ4, Q5TE59, Q8N6M3, Q9H3Y1
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      46037576..46054738 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322942.1XP_054178917.1  acyl-coenzyme A diphosphatase FITM2 isoform X1

      UniProtKB/Swiss-Prot
      A1L492, B9EGQ4, Q5TE59, Q8N6M3, Q9H3Y1