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

MPV17L2 Gene

protein-coding   GIFtS: 43
GCID: GC19P018304

MPV17 mitochondrial membrane protein-like 2

  Search for MPV17L2
in our new
 Human Malady Compendium 
Biological research products
for MPV17L2
    

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

Aliases
MPV17 Mitochondrial Membrane Protein-Like 21 2
FKSG241 2 3
MGC129721
Mpv17-Like Protein 22

External Ids:    HGNC: 281771   Entrez Gene: 847692   Ensembl: ENSG000002548587   UniProtKB: Q567V23   

Export aliases for MPV17L2 gene to outside databases

Previous GC identifers: GC19P018167 GC19P017867


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

  --

(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_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MPV17L2 gene promoter:
         Pax-5   Pax-2   Pax-2a   Roaz   MEF-2A   FOXC1   HOXA5   HSF2   aMEF-2   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPV17L2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MPV17L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPV17L2


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

MPV17L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPV17L2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P018304:  view genomic region     (about GC identifiers)

Start:
18,304,028 bp from pter      End:
18,307,552 bp from pter
Size:
3,525 bases      Orientation:
plus 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: M17L2_HUMAN, Q567V2 (See protein sequence)
Recommended Name: Mpv17-like protein 2  
Size: 206 amino acids; 23180 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q96P34 Q96QA0 Q9BSG4
Alternative splicing: 2 isoforms:  Q567V2-1   Q567V2-2   

Explore the universe of human proteins at neXtProt for MPV17L2: NX_Q567V2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q567V2

  • MPV17L2 Protein expression data from MOPED and PaxDb:    About this image 
    MPV17L2 Protein Expression
    REFSEQ proteins: NP_116072.2  
    ENSEMBL proteins: 
     ENSP00000435162   ENSP00000247712  

    Human Recombinant Protein Products for MPV17L2: 
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    Uscn Proteins for MPV17L2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0016021integral to membrane IEA--

    MPV17L2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MPV17L2


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

    MPV17L2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007248 Mpv17_PMP22

    Graphical View of Domain Structure for InterPro Entry Q567V2

    ProtoNet protein and cluster: Q567V2

    1 Blocks protein family: IPB007248 Mpv17/PMP22

    UniProtKB/Swiss-Prot: M17L2_HUMAN, Q567V2
    Similarity: Belongs to the peroxisomal membrane protein PXMP2/4 family


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

    Phenotypes:
         1 GenomeRNAi human phenotype for MPV17L2:
     Decreased viability with pacli 

         1 MGI phenotypic allele for Mpv17l2 (no phenotypes)

    MPV17L2 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Mpv17l2tm1Lex for MPV17L2
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MPV17L2 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPV17L2


    (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 MPV17L2

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MPV17L2
    Search CenterWatch for drugs/clinical trials and news about MPV17L2 / M17L2 

    (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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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MPV17L2 gene: 
    NM_032683.2  

    Unigene Cluster for MPV17L2:

    MPV17 mitochondrial membrane protein-like 2
    Hs.515254  [show with all ESTs]
    Unigene Representative Sequence: BC028146
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000534421 ENST00000534474 ENST00000533807 ENST00000532896(uc010ebj.3)
    ENST00000247712(uc002nid.3)

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    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPV17L2 (see all 4)
    OriGene shRNA RFP: MPV17L2
    OriGene siRNA: MPV17L2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPV17L2
    Sirion Biotech Custom design and validation of potent shRNA sequences against MPV17L2 
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPV17L2 (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPV17L2 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPV17L2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPV17L2

    Additional cDNA sequence: 

    AF320622.1 AF416712.1 AK094091.1 BC005064.1 BC028146.1 BC093008.1 

    5 DOTS entries:

    DT.412098  DT.121450326  DT.100653326  DT.100815373  DT.102830238 

    24/100 AceView cDNA sequences (see all 100):

    CA389829 H41027 AI498944 BQ684293 BC005064 AK094091 AI825828 AA554683 
    BG740168 NM_032683 AA380652 CD367497 BU633323 BM974561 CR623978 CB160305 
    CB115590 AF320622 AI697543 AI090282 BF791879 AW438677 BX115784 AF416712 

    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

    MPV17L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTGATCCCC
    MPV17L2 Expression
    About this image
    See MPV17L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MPV17L2

    SOURCE GeneReport for Unigene cluster: Hs.515254
        SABiosciences Custom PCR Arrays for MPV17L2

    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MPV17L2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPV17L2

    (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 eukaryotes.

    Orthologs for MPV17L2 gene from 7/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mpv17l21 , 5 MPV17 mitochondrial membrane protein-like 21, 5 79.63(n)1
    80.3(a)1
      8 (34.15 cM)5
    2343841  NM_183170.21  NP_898993.11 
     707586495 
    chicken
    (Gallus gallus)
    Aves LOC1008576961 mpv17-like protein 2-like 71.72(n)
    67.42(a)
      100857696  XM_003642886.1  XP_003642934.1 
    lizard
    (Anolis carolinensis)
    Reptilia MPV17L26
    --
    59(a)
    1 ↔ 1
    GL344768.1(385-5466)
    zebrafish
    (Danio rerio)
    Actinopterygii mpv17l21 MPV17 mitochondrial membrane protein-like 2 61.78(n)
    61.26(a)
      436840  NM_001002567.1  NP_001002567.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG322621 CG32262 56.24(n)
    44.17(a)
      38445  NM_139574.3  NP_647831.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G148606
    AT3G245706
    (see all 7)
    protein Mpv17
    Peroxisomal membrane 22 kDa (Mpv17/PMP22) family p...
    (see all 7)
    17(a)
    17(a)
    (see all 7)
    possible ortholog
    possible ortholog
    (see all 7)
    2(6387624-6389628)
    3(8966521-8968657)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 5)
    peroxisomal membrane protein, putative, expressed
    (see all 5)
    19(a)
    17(a)
    (see all 5)
    possible ortholog
    possible ortholog
    (see all 5)
    1(7084842-7088194)
    1(30487130-30489457)


    ENSEMBL Gene Tree for MPV17L2 (if available)
    TreeFam Gene Tree for MPV17L2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MPV17L2 gene
    PXMP22  ENSG000002611302  MPV172  MPV17L2  
    1 SIMAP similar gene for MPV17L2 using alignment to 2 protein entries:     M17L2_HUMAN (see all proteins):
    MPV17

    MPV17L2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MPV17L2
    PGOHUM00000241785


    (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

    10/76 NCBI SNPs in MPV17L2 are shown (see all 76    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs48087611,2
    C,A--18302115(+) GCGGGC/AACCTG 1 -- us2k14Minor allele frequency- A:0.32NA CSA 125
    rs1480338751,2
    --18302155(+) GGAAAA/GTGGCG 1 -- us2k10--------
    rs559909041,2
    C,F--18302239(+) CTCTCT/CCAAAA 1 -- us2k13Minor allele frequency- C:0.22NA 124
    rs2007982401,2
    --18302250(+) AAAAA-/AAAG  
            
    AAACT
    1 -- us2k10--------
    rs2015810061,2
    --18302251(+) AAAAA-/AAGAAACT 1 -- us2k10--------
    rs561287691,2
    C,F--18302261(+) ACTCCG/ATAAAA 1 -- us2k16Minor allele frequency- A:0.22WA NA 246
    rs1896050171,2
    --18302616(+) CACTGC/TGCCTG 1 -- us2k10--------
    rs1418101581,2
    --18302741(+) GTCTGC/GAGGCA 1 -- us2k10--------
    rs556505491,2
    C,F--18303008(+) CTCTGC/ATTTTG 1 -- us2k16Minor allele frequency- A:0.23NA CSA WA EA 364
    rs1378862421,2
    C--18303036(+) CTTGC-/TTTG  
            
    TTTGT
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MPV17L2 (18304028 - 18307552 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MPV17L2
         2 CNVs: 5093 58863

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for MPV17L2

    (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

    MPV17L2 for disorders           About MalaCards

    MPV17L2 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: MPV17L2 (1 document)

    Export disorders for MPV17L2 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 MPV17L2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with MPV17L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    2. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    3. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1  ....Compston A. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    8. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

    (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: 84769 HGNC: 28177 AceView: FKSG24 Ensembl:ENSG00000254858 euGenes: HUgn84769
    ECgene: MPV17L2 H-InvDB: MPV17L2

    (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 MPV17L2 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 MPV17L2 gene:
    Search GeneIP for patents involving MPV17L2

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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     Regulatory tfbs in MPV17L2 promoter
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     MPV17L2 Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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