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

MPV17L2 Gene

protein-coding   GIFtS: 48
GCID: GC19P018304

MPV17 Mitochondrial Membrane Protein-Like 2

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
MPV17 Mitochondrial Membrane Protein-Like 21 2
FKSG242 3
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

GeneCards Summary for MPV17L2 Gene: 
MPV17L2 (MPV17 mitochondrial membrane protein-like 2) is a protein-coding gene. Diseases associated with MPV17L2 include multiple sclerosis. An important paralog of this gene is PXMP2.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011295.11  NC_018930.2  
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:
18,303,992 bp from pter      End:
18,307,758 bp from pter
Size:
3,767 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for MPV17L2 at MOPED 

Post-translational modifications:

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

  • MPV17L2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MPV17L2 Protein Expression
    REFSEQ proteins: NP_116072.2  
    ENSEMBL proteins: 
     ENSP00000469836   ENSP00000435162  

    Human Recombinant Protein Products for MPV17L2: 
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    Novus Biologicals MPV17L2 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007248 Mpv17_PMP22

    Graphical View of Domain Structure for InterPro Entry Q567V2

    ProtoNet protein and cluster: Q567V2

    1 Blocks protein domain: IPB007248 Mpv17/PMP22

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


    MPV17L2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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:
         MGI mouse knock-out Mpv17l2tm1Lex for MPV17L2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MPV17L2 
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    miRNA
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    Inhib. RNA
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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, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MPV17L2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for MPV17L2):
        Peroxisome


    MPV17L2 for pathways           About GeneDecksing

    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, Ligands according to IUPHAR, 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 (M17L2)

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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:
    ENST00000599612 ENST00000534421 ENST00000532896(uc010ebj.3) ENST00000534474
    ENST00000533807
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidMPV17L2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MPV17L2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPV17L2
    Clone
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    OriGene ORF clones in mouse, rat for MPV17L2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MPV17L2 (NM_032683)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPV17L2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPV17L2
    Sirion Biotech Customized lentivirus for stable overexpression of MPV17L2 
                         Customized lentivirus expression plasmids for stable overexpression of MPV17L2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MPV17L2
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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 mRNA 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):

    BG740168 AA554683 BC005064 AF320622 NM_032683 BQ684293 AI825828 CB160305 
    CB115590 AK094091 CR623978 CD367497 BU633323 AI498944 AA380652 CA389829 
    BM974561 H41027 AI003494 AA419224 BM982335 AI568586 BG769447 BF439274 

    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 <intensity>2/3
    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 qPCR primer pairs and template standards for MPV17L2
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    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPV17L2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPV17L2
    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 animals and fungi.

    Orthologs for MPV17L2 gene from 7/15 species (see all 15)    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
    Uncharacterized protein
    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 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK470.16
    Protein ZK470.1
    31(a)
    1 ↔ 1
    X(4164302-4166138)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SYM16
    Protein required for ethanol metabolism; induced b...
    26(a)
    1 → many
    XII(641464-642057)


    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  MPV172  
    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, 4UniProtKB, 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

    10/125 SNPs in MPV17L2 are shown (see all 125)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs48087601,2
    C,F--17865503(+) TGGCTC/GACGCC 1 -- us2k13Minor allele frequency- G:0.33NA 6
    rs48087611,2
    C,A--18302115(+) gcgggC/Aacctg 1 -- us2k14Minor allele frequency- A:0.32NA CSA 125
    rs1480338751,2
    C--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
    C--18302741(+) GTCTGC/GAGGCA 1 -- us2k10--------
    rs556505491,2
    C,F--18303008(+) CTCTGC/ATTTTG 1 -- us2k16Minor allele frequency- A:0.23NA CSA WA EA 364

    HapMap Linkage Disequilibrium report for MPV17L2 (18303992 - 18307758 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for MPV17L2 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv911256CNV Loss21882294
    nsv911254CNV Loss21882294
    dgv3773n71CNV Loss21882294
    nsv911260CNV Loss21882294
    dgv3771n71CNV Loss21882294
    nsv833775CNV Loss17160897
    dgv3774n71CNV Loss21882294
    nsv911244CNV Gain21882294
    dgv576n67CNV Gain20364138
    dgv3777n71CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MPV17L2
    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for MPV17L2:    About MalaCards
    multiple sclerosis    


    MPV17L2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MPV17L2
    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. Genetic risk and a primary role for cell-mediated immu ne mechanisms in multiple sclerosis. (PubMed id 21833088)1, 4  ....Compston A. (2011)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. 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)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    5. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    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 Kegg: 84769 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

    GeneCards and IP:
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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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