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MPV17L2 Gene

protein-coding   GIFtS: 47
GCID: GC19P018421

MPV17 Mitochondrial Membrane Protein-Like 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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 GC19P018304 GC19P017867


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MPV17L2 Gene:
MPV17L2 (MPV17 mitochondrial membrane protein-like 2) is a protein-coding gene. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   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 Chromatin IP Primers for MPV17L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC19P018421:  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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: M17L2_HUMAN, Q567V2 (See protein sequence)
Recommended Name: Mpv17-like protein 2  
Size: 206 amino acids; 23180 Da
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MPV17L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_116072.2  
    ENSEMBL proteins: 
     ENSP00000469836  

    MPV17L2 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with MPV17L2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for MPV17L2:
     Decreased viability with pacli 

         1 MGI phenotypic allele for Mpv17l2 (no phenotypes)

    Find genes that share phenotypes with MPV17L2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mpv17l2tm1Lex for MPV17L2

       genOway: Develop your customized and physiologically relevant rodent model for MPV17L2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    M17L2_HUMAN, Q567V2: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with MPV17L2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MPV17L2 About    
    See pathways by source

    SuperPathContained pathways About
    1Peroxisome
    Peroxisome


    Find genes that share SuperPaths with MPV17L2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1 Kegg Pathway  (Kegg details for MPV17L2):
        Peroxisome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MPV17L2
    Interactions:

        Search GeneGlobe Interaction Network for MPV17L2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000599612 ENST00000534421 ENST00000532896(uc010ebj.3) ENST00000533807

    miRNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MPV17L2
      QuantiTect SYBR Green Assays in human, mouse, rat MPV17L2
      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 

    Selected AceView cDNA sequences (see all 100):

    AI825828 NM_032683 CB160305 BM974561 AI498944 BQ684293 H41027 CA389829 
    BC005064 AK094091 CD367497 AA554683 BG740168 CB115590 BU633323 AF320622 
    CR623978 AA380652 BQ950797 BM829278 BG769447 BI194890 BG112790 BG748747 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    MPV17L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MPV17L2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515254
        Custom PCR Arrays 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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MPV17L2 gene from Selected species (see all 16)    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 79.4(n)1
    79.9(a)1
      8 (34.15 cM)5
    2343841  NM_183170.21  NP_898993.11 
     707586495 
    chicken
    (Gallus gallus)
    Aves MPV17L21 MPV17 mitochondrial membrane protein-like 2 71(n)
    67.23(a)
      100857696  XM_004948910.1  XP_004948967.1 
    lizard
    (Anolis carolinensis)
    Reptilia MPV17L26
    MPV17 mitochondrial membrane protein-like 2
    59(a)
    1 ↔ 1
    GL344768.1(385-5466)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mpv17l21 MPV17 mitochondrial membrane protein-like 2 62.3(n)
    61.31(a)
      448319  NM_001004930.1  NP_001004930.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mpv17l21 MPV17 mitochondrial membrane protein-like 2 64.02(n)
    64.2(a)
      436840  NM_001002567.1  NP_001002567.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG59061 CG5906 50.48(n)
    41.62(a)
      39343  NM_140261.2  NP_648518.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ZK470.11 ZK470.1 47.71(n)
    36.87(a)
      191323  NM_076307.4  NP_508708.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SYM16
    Protein required for ethanol metabolism; induced b...
    24(a)
    1 → many
    XII(641464-642057) YLR251W


    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)
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    Paralogs for MPV17L2 gene
    PXMP22  MPV172  
    1 SIMAP similar gene for MPV17L2 using alignment to 1 protein entry:     M17L2_HUMAN:
    MPV17

    Find genes that share paralogs with MPV17L2           About GenesLikeMe


    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MPV17L2 (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) Selected 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

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MPV17L2
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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.)
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    Find genes that share disorders with MPV17L2           About GenesLikeMe

    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)
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    PubMed articles for MPV17L2 gene integrated from 10 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 immune mechanisms in multiple sclerosis. (PubMed id 21833088)1, 4  ....Compston A. (Nature 2011)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 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. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. (PubMed id )2 

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 84769 HGNC: 28177 AceView: FKSG24 Ensembl:ENSG00000254858 euGenes: HUgn84769
    ECgene: MPV17L2 Kegg: 84769 H-InvDB: MPV17L2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    Patent Information for MPV17L2 gene:
    Search GeneIP for patents involving MPV17L2

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