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

MPV17 Gene

protein-coding   GIFtS: 61
GCID: GC02M027532

MpV17 Mitochondrial Inner Membrane Protein

(Previous names: MpV17 transgene, murine homolog, glomerulosclerosis)
  See 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)
About This Section

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

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 mpv17-related hepatocerebral mitochondrial dna depletion syndrome, and renal vascular disease. GO annotations related to this gene include molecular_function. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MPV17

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: MPV17_HUMAN, P39210 (See protein sequence)
Recommended Name: Protein Mpv17  
Size: 176 amino acids; 19733 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: D6W555 Q53SY2 Q96B08

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

Explore proteomics data for MPV17 at MOPED 

MPV17 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

MPV17 Protein Expression

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

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

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

MPV17 for ontologies           About GeneDecksing



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Cloud-Clone Corp. CLIAs for MPV17


(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 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


MPV17 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

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 (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
MPV17 for ontologies           About GeneDecksing


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

     15/17 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  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  integument 
 liver/biliary system  mortality/aging  muscle  nervous system  pigmentation 

MPV17 for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for MPV17 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MPV17

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MPV17 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MPV17 

miRNA
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QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPV17
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SwitchGear 3'UTR luciferase reporter plasmidMPV17 3' UTR sequence
Inhib. RNA
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Gene Editing
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Sirion Biotech Customized adenovirus for overexpression of MPV17

Clone
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GenScript: all cDNA clones in your preferred vector: MPV17 (NM_002437)
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPV17
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Cell Line
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPV17


(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 MPV17 About                                                                                                See pathways by source

SuperPathContained pathways About
1Peroxisome
Peroxisome

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1         Kegg Pathway  (Kegg details for MPV17):
    Peroxisome


MPV17 for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MPV17

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for MPV17 (P392103 ENSP000002335454) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CLN3Q132863I2D: score=1 
CSENSP000003420564STRING: ENSP00000342056
About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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--

MPV17 for ontologies           About GeneDecksing



(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

MPV17 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

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)

Search CenterWatch for drugs/clinical trials and news about MPV17

(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 MPV17 gene: 
NM_002437.4  

Unigene Cluster for MPV17:

MpV17 mitochondrial inner membrane protein
Hs.75659  [show with all ESTs]
Unigene Representative Sequence: AK093305
18/22 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
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SwitchGear 3'UTR luciferase reporter plasmidMPV17 3' UTR sequence
Inhib. RNA
Products:
     
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QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPV17
Clone
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OriGene ORF clones in mouse, rat for MPV17
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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
Sirion Biotech Customized lentivirus for stable overexpression of MPV17 
                     Customized lentivirus expression plasmids for stable overexpression of MPV17 
Primer
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OriGene qPCR primer pairs and template standards for MPV17
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPV17
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPV17

Additional mRNA sequence: 

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

24/26 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 

24/379 AceView cDNA sequences (see all 379):

AI950599 CA398082 AI086020 AK093305 AF088036 CB140839 BG956942 BI757793 
CB997301 BI752060 AI077383 CA310961 BQ433967 AA604657 BC020981 CA454828 
BG748108 BX117335 BQ427731 AI919333 BU539746 BI335913 BG760323 BQ639061 

GeneLoc Exon Structure

5/15 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™, 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

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


See MPV17 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MPV17

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

    SABiosciences Expression via Pathway-Focused PCR Arrays including MPV17: 
          Mitochondria in human mouse rat
          Oxidative Stress in human mouse rat

Primer
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPV17
QIAGEN 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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for MPV17 gene from 7/17 species (see all 17)    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 89.9(n)1
92.57(a)1
  5 (17.12 cM)5
175271  NM_008622.51  NP_032648.11 
 311406605 
chicken
(Gallus gallus)
Aves LOC1008574651 protein Mpv17-like 72.12(n)
68.42(a)
  100857465  XM_003641052.1  XP_003641100.1 
zebrafish
(Danio rerio)
Actinopterygii BC055143.12   -- 75(n)   394140  BC055143.1 
fruit fly
(Drosophila melanogaster)
Insecta CG110776
--
33(a)
1 ↔ 1
4(1049301-1049996)
worm
(Caenorhabditis elegans)
Secernentea T18D3.91 Protein T18D3.9 43.06(n)
34.78(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
Sym1p1
42.8(n)1
32.54(a)1
  12(641464-642057)4
8509531, 4  NP_013352.11, 4 
rice
(Oryza sativa)
Liliopsida Os01g02283001 hypothetical protein 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)
About This Section
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

MPV17 for paralogs           About GeneDecksing



(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

10/305 SNPs in MPV17 are shown (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
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
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

  • 18 diseases for MPV17:    About MalaCards
    mpv17-related hepatocerebral mitochondrial dna depletion syndrome    renal vascular disease    arteriolosclerosis    mitochondrial dna depletion syndrome
    mitochondrial dna depletion syndrome, hepatocerebral form    nephrotic syndrome    osteomyelitis    mitochondrial disorders
    metabolic acidosis    vascular disease    leukodystrophy    peripheral neuropathy
    proteinuria    nephritis    neuropathy    kidney disease
    cerebritis    hepatitis

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

    MPV17 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for MPV17 gene, integrated from 9 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. (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. (2006)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (PubMed id 20843780)1, 2 Wang W....Scharfe C. (2010)
    5. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. (PubMed id 16909392)1, 2 Karadimas C.L.... Hirano M. (2006)
    6. Systematic identification of human mitochondrial disease genes through integrative genomics. (PubMed id 16582907)1, 2 Calvo S.... Mootha V.K. (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. (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. (2004)
    9. Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue. (PubMed id 8427063)1, 2 Weiher H. (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. (1995)

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

    (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 MPV17 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPV17

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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