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MPV17 Gene

protein-coding   GIFtS: 61
GCID: GC02M027532

MpV17 Mitochondrial Inner Membrane Protein

(Previous names: MpV17 transgene, murine homolog, glomerulosclerosis)
  See MPV17-related diseases
at  

(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 Inner Membrane Protein1 2     SYM12
MTDPS62 5     Mpv17, Human Homolog Of Glomerulosclerosis And Nephrotic Syndrome2
glomerulosclerosis1     Protein Mpv172
MpV17 Transgene, Murine Homolog, Glomerulosclerosis1     

External Ids:    HGNC: 72241   Entrez Gene: 43582   Ensembl: ENSG000001152047   OMIM: 1379605   UniProtKB: P392103   

Export aliases for MPV17 gene to outside databases

Previous GC identifers: GC02M027453 GC02M027624 GC02M027506 GC02M027444 GC02M027385 GC02M027277


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MPV17 Gene:
This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen
species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion
syndrome (MDDS). (provided by RefSeq, Jul 2008)

GeneCards Summary for MPV17 Gene:
MPV17 (MpV17 mitochondrial inner membrane protein) is a protein-coding gene. Diseases associated with MPV17 include mitochondrial dna depletion syndrome, hepatocerebral form, and mpv17-related hepatocerebral mitochondrial dna depletion syndrome. An important paralog of this gene is PXMP2.

UniProtKB/Swiss-Prot: MPV17_HUMAN, P39210
Function: Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and
control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance

Gene Wiki entry for MPV17 Gene


(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_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MPV17 gene promoter:
         p53   GATA-3   Sp1   Roaz   GATA-2   GATA-1   C/EBPalpha   Max   c-Rel   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMPV17 promoter sequence
   Search Chromatin IP Primers for MPV17

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MPV17


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

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3

MPV17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MPV17 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M027532:  view genomic region     (about GC identifiers)

Start:
27,532,360 bp from pter      End:
27,548,547 bp from pter
Size:
16,188 bases      Orientation:
minus 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: MPV17_HUMAN, P39210 (See protein sequence)
Recommended Name: Protein Mpv17  
Size: 176 amino acids; 19733 Da
Secondary accessions: D6W555 Q53SY2 Q96B08

Explore the universe of human proteins at neXtProt for MPV17: NX_P39210

Explore proteomics data for MPV17 at MOPED


See MPV17 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_002428.1  
ENSEMBL proteins: 
 ENSP00000411574   ENSP00000233545   ENSP00000383955   ENSP00000369383   ENSP00000349713  
 ENSP00000386000   ENSP00000403824   ENSP00000384586   ENSP00000385175   ENSP00000406441  
 ENSP00000388043   ENSP00000385671   ENSP00000405235   ENSP00000382006  

MPV17 Human Recombinant Protein Products:

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Novus Biologicals MPV17 Protein
Novus Biologicals MPV17 Lysates
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for MPV17

 
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antibodies-online proteins for MPV17 (2 products) 

 
antibodies-online peptides for MPV17

MPV17 Antibody Products:

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antibodies-online antibodies for MPV17 (16 products) 

MPV17 Assay Products:

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antibodies-online kits for MPV17 (8 products) 


(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 P39210

ProtoNet protein and cluster: P39210

1 Blocks protein domain: IPB007248 Mpv17/PMP22

UniProtKB/Swiss-Prot: MPV17_HUMAN, P39210
Similarity: Belongs to the peroxisomal membrane protein PXMP2/4 family


Find genes that share domains with MPV17           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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Molecular Function:

     UniProtKB/Swiss-Prot Summary: MPV17_HUMAN, P39210
Function: Involved in mitochondria homeostasis. May be involved in the metabolism of reactive oxygen species and
control of oxidative phosphorylation and mitochondrial DNA (mtDNA) maintenance

     Genatlas biochemistry entry for MPV17:
mouse glomerulosclerosis gene Mpv17,homolog,peroxisomal,located in the 5'utr region of the UCN gene

     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
Find genes that share ontologies with MPV17           About GenesLikeMe


Phenotypes:
     2 GenomeRNAi human phenotypes for MPV17:
 Decreased viability with pacli  Increased gamma-H2AX phosphory 

     Selected MGI mutant phenotypes (inferred from 1 allele(MGI details for Mpv17) (see all 17):
 adipose tissue  behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland 
 growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  integument 
 liver/biliary system  mortality/aging  muscle  nervous system  pigmentation 

Find genes that share phenotypes with MPV17           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for MPV17

miRNA
Products:
    
miRTarBase miRNAs that target MPV17:
hsa-mir-185-5p (MIRT045337), hsa-mir-26b-5p (MIRT030312), hsa-mir-23b-3p (MIRT046366), hsa-mir-122-5p (MIRT023393)

Block miRNA regulation of human, mouse, rat MPV17 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate MPV17
SwitchGear 3'UTR luciferase reporter plasmidMPV17 3' UTR sequence
Inhib. RNA
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OriGene RNAi products in human, mouse, rat for MPV17
Predesigned siRNA for gene silencing in human, mouse, rat MPV17

Gene Editing
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DNA2.0 Custom Protein Engineering Service for MPV17

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OriGene clones in human, mouse for MPV17 (see all 6)
OriGene ORF clones in mouse, rat for MPV17
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GenScript: all cDNA clones in your preferred vector: MPV17 (NM_002437)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPV17
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPV17

Cell Line
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GenScript Custom overexpressing Cell Line Services for MPV17
Browse ESI BIO Cell Lines and PureStem Progenitors for MPV17 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPV17


(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
MPV17_HUMAN, P39210: Mitochondrion inner membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
peroxisome5
cytosol2
extracellular2
nucleus1
plasma membrane1

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IDA16582910
GO:0005743mitochondrial inner membrane IDA16582910
GO:0005777peroxisome NAS7957077
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with MPV17           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 MPV17 About    
See pathways by source

SuperPathContained pathways About
1Peroxisome
Peroxisome


Find genes that share SuperPaths with MPV17           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Kegg Pathway  (Kegg details for MPV17):
    Peroxisome

    Pathway & Disease-focused RT2 Profiler PCR Arrays including MPV17: 
          Mitochondria in human mouse rat
          Oxidative Stress in human mouse rat

Interactions:

    GeneGlobe Interaction Network for MPV17

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for MPV17 (P392103 ENSP000002335454) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CLN3Q132863I2D: score=1 
SLC25A21ENSP000003294524STRING: ENSP00000329452
SLC25A29ENSP000003521674STRING: ENSP00000352167
ACLYENSP000002537924STRING: ENSP00000253792
CSENSP000003420564STRING: ENSP00000342056
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Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000002mitochondrial genome maintenance IMP16582910
GO:0032836glomerular basement membrane development ISS--
GO:0034614cellular response to reactive oxygen species ISS--
GO:0042592homeostatic process IMP16582910
GO:0048839inner ear development ISS--

Find genes that share ontologies with MPV17           About GenesLikeMe



(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 MPV17

1 Novoseek inferred chemical compound relationship for MPV17 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
oxygen 31.1 4 7957077 (2), 7564095 (1), 9658163 (1)



Find genes that share compounds with MPV17           About GenesLikeMe



(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 MPV17 gene: 
NM_002437.4  

Unigene Cluster for MPV17:

MpV17 mitochondrial inner membrane protein
Hs.75659  [show with all ESTs]
Unigene Representative Sequence: AK093305
Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
ENST00000435114 ENST00000233545(uc002rjr.3) ENST00000402310 ENST00000380044(uc002rjs.3)
ENST00000357186(uc002rjt.3) ENST00000402722 ENST00000426513 ENST00000405983
ENST00000405076 ENST00000430991 ENST00000489478 ENST00000415514 ENST00000403262
ENST00000495429 ENST00000428910 ENST00000475085 ENST00000497981 ENST00000492879

miRNA
Products:
     
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Search for qRT-PCR Assays for microRNAs that regulate MPV17
SwitchGear 3'UTR luciferase reporter plasmidMPV17 3' UTR sequence
Inhib. RNA
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OriGene RNAi products in human, mouse, rat for MPV17
Predesigned siRNA for gene silencing in human, mouse, rat MPV17
Clone
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OriGene clones in human, mouse for MPV17 (see all 6)
OriGene ORF clones in mouse, rat for MPV17
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: MPV17 (NM_002437)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for MPV17
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPV17
Primer
Products:
    
OriGene qPCR primer pairs and template standards for MPV17
OriGene qSTAR qPCR primer pairs in human, mouse for MPV17
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MPV17
  QuantiTect SYBR Green Assays in human, mouse, rat MPV17
  QuantiFast Probe-based Assays in human, mouse, rat MPV17

Additional mRNA sequence: 

AF088036.1 AK093305.1 AK311549.1 BC001115.2 BC016289.2 X76538.1 

Selected DOTS entries (see all 26):

DT.92407161  DT.443196  DT.100778022  DT.120979511  DT.100815122  DT.120979237  DT.97854158  DT.100778020 
DT.120979466  DT.40115950  DT.92437481  DT.95262636  DT.100778021  DT.415129  DT.100036100  DT.120979371 
DT.97857363  DT.100036101  DT.100773754  DT.91741249  DT.100036102  DT.100815116  DT.100815124  DT.120979468 

Selected AceView cDNA sequences (see all 379):

BQ645426 AX748044 AW302397 BF195217 CR607626 CA310961 BE384487 AI783516 
AI346091 AI949545 CN482233 BU162084 BC016289 BQ430746 BU164320 BI093527 
CR618803 BU632224 BM753294 AI925082 CB997301 BU626067 BQ050187 BQ639061 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for MPV17 (see all 15)    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c · 12d · 12e · 12f
SP1:                                      -     -     -     -                 -                 -     -                 -                                       
SP2:                                      -     -     -     -                 -                 -     -                                                         
SP3:                                            -     -     -     -     -     -                 -     -                 -                                       
SP4:                                      -     -     -     -     -           -                 -     -                 -                                       
SP5:        -     -     -     -     -     -     -     -     -     -     -     -                 -     -                 -                                       


ECgene alternative splicing isoforms for MPV17

(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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MPV17 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACCTTATCAA
MPV17 Expression
About this image

MPV17 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MPV17 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.75659

UniProtKB/Swiss-Prot: MPV17_HUMAN, P39210
Tissue specificity: Ubiquitous. Expressed in pancreas, kidney, muscle, liver, lung, placenta, brain and heart

    Pathway & Disease-focused RT2 Profiler PCR Arrays including MPV17: 
          Mitochondria in human mouse rat
          Oxidative Stress in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for MPV17
OriGene qSTAR qPCR primer pairs in human, mouse for MPV17
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MPV17
QuantiTect SYBR Green Assays in human, mouse, rat MPV17
QuantiFast Probe-based Assays in human, mouse, rat MPV17
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPV17

(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 eukaryotes.

Orthologs for MPV17 gene from Selected species (see all 18)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Mpv171 , 5 MpV17 mitochondrial inner membrane protein1, 5 89.77(n)1
92.05(a)1
  5 (17.12 cM)5
175271  NM_008622.51  NP_032648.11 
 311406605 
chicken
(Gallus gallus)
Aves MPV171 MpV17 mitochondrial inner membrane protein 72.12(n)
68.42(a)
  100857465  XM_003641052.2  XP_003641100.1 
zebrafish
(Danio rerio)
Actinopterygii BC055143.12   -- 75(n)   394140  BC055143.1 
fruit fly
(Drosophila melanogaster)
Insecta CG110776
--
36(a)
1 ↔ 1
4(1049301-1049996)
worm
(Caenorhabditis elegans)
Secernentea T18D3.91 T18D3.9 42.83(n)
33.94(a)
  3564939  NM_001029745.1  NP_001024916.1 
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SYM1(YLR251W)4
SYM11
Protein required for ethanol metabolism; induced by heat shock and localized to the inner mitochondrial membrane; homologous to mammalian peroxisomal membrane protein Mpv17 less4
SYM11
42.2(n)1
31.79(a)1
  12(641464-642057)4
8509531, 4  NP_013352.11, 4 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G245701 AT3G24570 47.06(n)
38.24(a)
  822053  NM_113368.3  NP_189100.1 
rice
(Oryza sativa)
Liliopsida Os01g02283001 Os01g0228300 47.62(n)
41.67(a)
  4327186  NM_001049011.1  NP_001042476.1 


ENSEMBL Gene Tree for MPV17 (if available)
TreeFam Gene Tree for MPV17 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for MPV17 gene
PXMP22  MPV17L22  
3 SIMAP similar genes for MPV17 using alignment to 14 protein entries:     MPV17_HUMAN (see all proteins):
PXMP2    MPV17L2    MPV17L

Find genes that share paralogs with MPV17           About GenesLikeMe



(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 MPV17 (see all 305)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0262194
Mitochondrial DNA depletion syndrome 6 (MTDPS6)4--see VAR_0262192 N K mis40--------
VAR_0262184
Mitochondrial DNA depletion syndrome 6 (MTDPS6)4--see VAR_0262182 R W mis40--------
VAR_0262174
Mitochondrial DNA depletion syndrome 6 (MTDPS6)4--see VAR_0262172 R Q mis40--------
rs1219097221,2
Cpathogenic127455873(-) TGGAAA/CTCCTA 2 K N mis10--------
rs1219097241,2
Cpathogenic127458439(-) CAACTA/GGGCCA 2 * W stg10--------
rs1479524881,2
Cpathogenic127458921(+) AACTTA/GCCACA 1 -- spd11Minor allele frequency- G:0.00NA 4552
rs1219097211,2
Cpathogenic127458960(-) AGGCCA/GGACTC 2 Q R mis10--------
rs1219097231,2
Cpathogenic127458961(-) GAGGCC/TGGACT 2 R W mis10--------
rs1219097251,2
Cpathogenic127468379(-) CAGCTG/TGTGAG 2 G W mis10--------
rs359705211,2
C--27276133(+) CAGCCC/TTTTTT 1 -- int11Minor allele frequency- T:0.50NA 2

HapMap Linkage Disequilibrium report for MPV17 (27532360 - 27548547 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for MPV17:    About this table    
Variant IDTypeSubtypePubMed ID
nsv2654CNV Insertion18451855
nsv873754CNV Loss21882294
nsv833614CNV Gain17160897

Human Gene Mutation Database (HGMD): MPV17
Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 137960   
OMIM disorders: 256810  
UniProtKB/Swiss-Prot: MPV17_HUMAN, P39210
  • Mitochondrial DNA depletion syndrome 6 (MTDPS6) [MIM:256810]: A disease due to mitochondrial dysfunction.
    It is characterized by infantile onset of progressive liver failure, often leading to death in the first year of
    life, peripheral neuropathy, corneal scarring, acral ulceration and osteomyelitis leading to autoamputation,
    cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for MPV17:    
    About MalaCards
    mitochondrial dna depletion syndrome, hepatocerebral form    mpv17-related hepatocerebral mitochondrial dna depletion syndrome    arteriolosclerosis    mitochondrial dna depletion syndrome
    glomerulosclerosis    nephrotic syndrome    mitochondrial disorders

    5 diseases from the University of Copenhagen DISEASES database for MPV17:
    Proteinuria     Nephritis     Arteriolosclerosis     Kidney failure
    Hypertension

    Find genes that share disorders with MPV17           About GenesLikeMe

    3 Novoseek inferred disease relationships for MPV17 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glomerulosclerosis 78.5 8 9658163 (2), 16631601 (1), 8281143 (1), 12471025 (1) (see all 6)
    nephrotic syndrome 62.4 3 8281143 (1), 9447939 (1), 1696177 (1)
    renal disease 19.4 2 1696177 (1), 7564095 (1)

    Genetic Association Database (GAD): MPV17
    Human Genome Epidemiology (HuGE) Navigator: MPV17 (1 document)

    Export disorders for MPV17 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 MPV17 gene, integrated from 10 sources (see all 32):
    (articles sorted by number of sources associating them with MPV17)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human homolog of the glomerulosclerosis gene Mpv17: structure and genomic organization. (PubMed id 8281143)1, 2, 3, 9 Karasawa M.... Weiher H. (Hum. Mol. Genet. 1993)
    2. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. (PubMed id 16582910)1, 2, 3 Spinazzola A.... Zeviani M. (Nat. Genet. 2006)
    3. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (PubMed id 20843780)1, 2 Wang W.... Scharfe C. (Nucleic Acids Res. 2011)
    4. 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)
    5. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. (PubMed id 16909392)1, 2 Karadimas C.L.... Hirano M. (Am. J. Hum. Genet. 2006)
    6. Systematic identification of human mitochondrial disease genes through integrative genomics. (PubMed id 16582907)1, 2 Calvo S.... Mootha V.K. (Nat. Genet. 2006)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    8. 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. (Genome Res. 2004)
    9. Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue. (PubMed id 8427063)1, 2 Weiher H. (Adv. Nephrol. Necker Hosp. 1993)
    10. Functional rescue of the glomerulosclerosis phenotype in Mpv17 mice by transgenesis with the human Mpv17 homologue. (PubMed id 7564095)1, 9 Schenkel J....Weiher H. (Kidney Int. 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4358 HGNC: 7224 AceView: GTF3C2andMPV17 Ensembl:ENSG00000115204 euGenes: HUgn4358
    ECgene: MPV17 Kegg: 4358 H-InvDB: MPV17

    (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 MPV17 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MPV17[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MPV17 gene:
    Search GeneIP for patents involving MPV17

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



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