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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FITM2 Gene

protein-coding   GIFtS: 40
GCID: GC20M042931

fat storage-inducing transmembrane protein 2

(Previous name: chromosome 20 open reading frame 142 )
(Previous symbol: C20orf142)
  Search for FITM2
in our new
 Human Malady Compendium 
Biological research products
for FITM2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Fat Storage-Inducing Transmembrane Protein 21 2     Chromosome 20 Open Reading Frame 1421
C20orf1421 2 3 5     Fit22
FIT21 3 5     Fat Inducing Transcript 22
DJ881L22.21     Fat-Inducing Transcript 22
Fat-Inducing Protein 22 3     

External Ids:    HGNC: 161351   Entrez Gene: 1284862   Ensembl: ENSG000001972967   OMIM: 6120295   UniProtKB: Q8N6M33   

Export aliases for FITM2 gene to outside databases

Previous GC identifer: GC20M042368


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FITM2:
FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 (PubMed
18160536)).(supplied by OMIM, May 2008)

UniProtKB/Swiss-Prot: FITM2_HUMAN, Q8N6M3
Function: Plays an important role in lipid droplet accumulation. Plays a role in the regulation of cell morphology and
cytoskeletal organization




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FITM2 gene promoter:
         STAT1   Elk-1   Tal-1beta   STAT1alpha   E47   PPAR-gamma1   ZIC2/Zic2   PPAR-gamma2   Pax-4a   ATF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FITM2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FITM2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.12

FITM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FITM2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M042931:  view genomic region     (about GC identifiers)

Start:
42,931,478 bp from pter      End:
42,939,889 bp from pter
Size:
8,412 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FITM2_HUMAN, Q8N6M3 (See protein sequence)
Recommended Name: Fat storage-inducing transmembrane protein 2  
Size: 262 amino acids; 29855 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: A1L492 B9EGQ4 Q5TE59 Q9H3Y1

Explore the universe of human proteins at neXtProt for FITM2: NX_Q8N6M3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N6M3

  • FITM2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001073941.1  
    ENSEMBL proteins: 
     ENSP00000380037  

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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005789endoplasmic reticulum membrane ISS18160536
    GO:0030176integral to endoplasmic reticulum membrane ISS--


    FITM2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FITM2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR019388 FIT

    Graphical View of Domain Structure for InterPro Entry Q8N6M3

    ProtoNet protein and cluster: Q8N6M3

    UniProtKB/Swiss-Prot: FITM2_HUMAN, Q8N6M3
    Similarity: Belongs to the FIT family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FITM2_HUMAN, Q8N6M3
    Function: Plays an important role in lipid droplet accumulation. Plays a role in the regulation of cell morphology and
    cytoskeletal organization

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--


    FITM2 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for FITM2:
     Decreased homologous recombina  Decreased viability of wild-ty 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FITM2

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization IMP--
    GO:0010866regulation of triglyceride biosynthetic process ISS18160536
    GO:0010890positive regulation of sequestering of triglyceride ISS18160536
    GO:0022604regulation of cell morphogenesis IMP--
    GO:0034389lipid particle organization ISS18160536


    FITM2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FITM2
    Search CenterWatch for drugs/clinical trials and news about FITM2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for FITM2 gene: 
    NM_001080472.1  

    Unigene Cluster for FITM2:

    Fat storage-inducing transmembrane protein 2
    Hs.632269  [show with all ESTs]
    Unigene Representative Sequence: BM477472
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000396825(uc002xlr.1)

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    Additional cDNA sequence: 

    BC130446.1 BC136640.1 

    4 DOTS entries:

    DT.443703  DT.97785638  DT.100642908  DT.70104274 

    24/86 AceView cDNA sequences (see all 86):

    AA401819 AI738442 BM930011 AI052462 BG150125 AW015241 CB243933 AW780201 
    F10764 BF224391 AI560337 BM671350 BE670979 BM931234 BM692790 BG741109 
    AI971244 AI242497 CD518403 AI280177 AW952344 F13162 BC029662 BE550875 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FITM2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGTGAAGAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See FITM2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FITM2

    SOURCE GeneReport for Unigene cluster: Hs.632269

    UniProtKB/Swiss-Prot: FITM2_HUMAN, Q8N6M3
    Tissue specificity: Widely expressed

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FITM2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FITM2 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fitm21 , 5 fat storage-inducing transmembrane protein 21, 5 88.04(n)1
    87.4(a)1
      2 (84.29 cM)5
    2288591  NM_173397.41  NP_775573.11 
     1634663795 
    chicken
    (Gallus gallus)
    Aves FITM21 fat storage-inducing transmembrane protein 2 64.25(n)
    56.49(a)
      419200  XM_417378.3  XP_417378.2 
    lizard
    (Anolis carolinensis)
    Reptilia FITM26
    --
    56(a)
    1 ↔ 1
    4(144221523-144226247)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.174852 Transcribed sequence with weak similarity to protein more 79.16(n)    AL965234.2 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc04g082 Transcribed sequence with weak similarity to protein more 71.23(n)    CK029044.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG106711 CG10671 53.08(n)
    34.6(a)
      38596  NM_168110.2  NP_729053.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK265.91 Protein ZK265.9 46.49(n)
    32.97(a)
      3565961  NM_001026694.2  NP_001021865.1 


    ENSEMBL Gene Tree for FITM2 (if available)
    TreeFam Gene Tree for FITM2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FITM2 gene
    FITM12  
    1 SIMAP similar gene for FITM2 using alignment to 1 protein entry:     FITM2_HUMAN:
    FITM1

    FITM2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/121 NCBI SNPs in FITM2 are shown (see all 121    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1476740681,2
    --42934774(+) GATCCA/GCCTGC 1 -- ds50010--------
    rs1859496071,2
    --42934888(+) TGGAAA/CCAGGG 1 -- ds50010--------
    rs1123039071,2
    --42935134(+) TCAGCA/GCCACC 1 -- ds50012Minor allele frequency- G:0.05CSA WA 119
    rs1491599371,2
    C,--42935225(+) AAAATA/CGATTA 1 -- ut310--------
    rs1423188121,2
    C,F,--42935281(+) AACTAT/CCTTGC 2 /D /G mis11Minor allele frequency- C:0.00NA 4260
    rs1403321021,2
    C,F--42935356(+) CGTATG/ATCCCG 2 /T /I mis12Minor allele frequency- A:0.00NA EU 5861
    rs61037051,2
    C,F,H--42935385(+) AACAAG/AGTGCC 2 /T syn15Minor allele frequency- A:0.01EA NS NA 300
    rs1912006871,2
    C,--42935510(+) GCAGTA/GGCTTC 2 H Y mis10--------
    rs2007750821,2
    --42935607(+) TCAAAA/GCCATG 2 G syn10--------
    rs1430323361,2
    F--42935664(+) TTTCTG/TACCCC 2 V syn11Minor allele frequency- T:0.00NA 4552

    HapMap Linkage Disequilibrium report for FITM2 (42931478 - 42939889 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for FITM2: --

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FITM2 for disorders           About MalaCards

    FITM2 for disorders           About GeneDecksing

    OMIM gene information: 612029    OMIM disorders: --

    Human Genome Epidemiology (HuGE) Navigator: FITM2 (1 document)

    Export disorders for FITM2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FITM2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FITM2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evolutionarily conserved gene family important for fat storage. (PubMed id 18160536)1, 2, 3 Kadereit B....Silver D.L. (2008)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    4. Meta-analysis of genome-wide association studies ident ifies eight new loci for type 2 diabetes in east Asians. (PubMed id 22158537)1 Cho Y.S....Seielstad M. (2012)
    5. Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration. (PubMed id 21834987)2 Bai S.W.... Ridley A.J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 128486 HGNC: 16135 AceView: C20orf142 Ensembl:ENSG00000197296 euGenes: HUgn128486
    ECgene: FITM2 H-InvDB: FITM2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FITM2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FITM2 gene:
    Search GeneIP for patents involving FITM2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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