Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

MPV17 Gene

protein-coding   GIFtS: 60
GCID: GC02M027532

MpV17 mitochondrial inner membrane protein

(Previous names: MpV17 transgene, murine homolog, glomerulosclerosis )
 Explore 15 diseases affiliated with
MPV17 via our new
 Human Malady Compendium 
Biological research products
for MPV17
    

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

Aliases
MpV17 Mitochondrial Inner Membrane Protein1 2
SYM11 2
MTDPS62 5
MpV17 Transgene, Murine Homolog, Glomerulosclerosis1
Mpv17, Human Homolog Of Glomerulosclerosis And Nephrotic Syndrome2
Protein Mpv172

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:
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)

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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: 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

MPV17 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

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

Human Recombinant Protein Products: 
Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate: MPV17
OriGene Custom Protein Services for MPV17 
GenScript Custom Purified and Recombinant Proteins Services for MPV17
Novus Biologicals MPV17 Protein
Novus Biologicals MPV17 Lysates
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins
Uscn Proteins for MPV17

Gene Ontology (GO): 5 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:0005779integral to peroxisomal membrane ----
GO:0016021integral to membrane IEA--


MPV17 for ontologies           About GeneDecksing



MPV17 Antibody Products: 
Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for MPV17 
GenScript Custom Superior Antibodies Services for MPV17
Novus Biologicals MPV17 Antibodies
Abcam antibodies for MPV17 
Uscn Antibodies for MPV17
ThermoFisher Antibodies for MPV17

Assay Products for MPV17: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Immunoassay Development
Browse OriGene Fluorogenic Cell Assay Kits
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for MPV17
Browse Enzo Life Sciences for kits & assays
Uscn ELISAs and CLIAs for MPV17


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

MPV17 for domains           About GeneDecksing

1 InterPro domain/family:
 IPR007248 Mpv17_PMP22

Graphical View of Domain Structure for InterPro Entry P39210

ProtoNet protein and cluster: P39210

1 Blocks protein family: IPB007248 Mpv17/PMP22

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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

     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

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

miRNA
Products:
    
OriGene 3'-UTR Clone: MPV17
Browse MicroRNA Expression Plasmids
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPV17
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate MPV17
SwitchGear 3'UTR luciferase reporter plasmidMPV17 3' UTR sequence
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPV17 (see all 4)
OriGene shRNA RFP: MPV17
OriGene siRNA: MPV17
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPV17

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for MPV17

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPV17 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, 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)
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
Products:
     
GenScript Custom overexpressing Cell Line Services for MPV17
Search LifeMap BioReagents cell lines for MPV17

In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPV17

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


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

Animal Models:
     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


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways  About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Peroxisome
Peroxisome1.00

Pathway sources
See GeneCards unified pathways
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, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for 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 ENST00000402310 ENST00000233545(uc002rjr.3) ENST00000380044(uc002rjs.3)
ENST00000357186(uc002rjt.3) ENST00000402722 ENST00000426513 ENST00000405983
ENST00000405076 ENST00000430991 ENST00000489478 ENST00000415514 ENST00000403262
ENST00000495429 ENST00000428910 ENST00000475085 ENST00000497981 ENST00000492879


miRNA
Products:
     
OriGene 3'-UTR Clone: MPV17
Browse OriGene MicroRNA Expression Plasmids
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MPV17
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate MPV17
SwitchGear 3'UTR luciferase reporter plasmidMPV17 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPV17 (see all 4)
OriGene shRNA RFP: MPV17
OriGene siRNA: MPV17
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPV17
Clone
Products:
     
OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPV17 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for MPV17
Browse OriGene validated miRNA SYBR primer pairs
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MPV17
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPV17
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPV17

Additional cDNA 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):

BU626067 BM014646 AA769269 AA418424 BQ064244 BM547688 AA744708 AA988231 
AI804433 BF431786 BM550113 BQ433967 BF446908 BI916190 BM478226 AI743063 
AU133461 BQ069340 BQ060033 BG678151 BC000212 AI346091 AA279973 BQ430746 

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
CGAP TAG: ACCTTATCAA

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene 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
Products:
OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MPV17
Browse OriGene validated miRNA SYBR primer pairs
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MPV17
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 7/22 species (see all 22)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
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
--
34(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 more4
Sym1p1
42.8(n)1
32.54(a)1
  12(641464-642057)4
8509531, 4  NP_013352.11, 4 
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G197506
protein Mpv17
22(a)
1 ↔ 1
5(6677069-6679384)
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  ENSG000002611302  MPV17L2  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, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/246 NCBI SNPs in MPV17 are shown (see all 246    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1219097221,2
Cpathogenic27275035(-) TGGAAA/CTCCTA 2 K N mis10--------
rs1219097241,2
Cpathogenic27277600(-) CAACTA/GGGCCA 2 * W stg10--------
rs1479524881,2
Cpathogenic27278082(+) AACTTA/GCCACA 1 -- spd11Minor allele frequency- G:0.00NA 4552
rs1219097211,2
Cpathogenic27278121(-) AGGCCA/GGACTC 2 Q R mis10--------
rs1219097231,2
Cpathogenic27278122(-) GAGGCC/TGGACT 2 R W mis10--------
rs1219097251,2
Cpathogenic27287498(-) CAGCTG/TGTGAG 2 G W mis10--------
rs767419381,2
F--27274501(+) CTTGGG/TGGTCT 1 -- ds50011Minor allele frequency- T:0.50NA 4
rs10497721,2
H--27274806(-) ATAGTC/TTTATT 1 -- ut316Minor allele frequency- T:0.10MN NS EA NA 604
rs10497511,2
C,H--27274847(-) TCACTC/TTAAAA 1 -- ut31 ese36Minor allele frequency- T:0.00MN NS EA NA 710
rs67217621,2
C,F,A,H,--27275841(+) TTTTTC/TGGGTT 1 -- int113Minor allele frequency- T:0.05NS EA NA WA 1610

HapMap Linkage Disequilibrium report for MPV17 (27532360 - 27548547 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MPV17
     1 CNV: 35807
Human Gene Mutation Database (HGMD): MPV17

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MPV17
DNA2.0 Custom Variant and Variant Library Synthesis for MPV17

(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.)
About This Section

MPV17 for disorders           About GeneDecksing

OMIM gene information: 137960   
OMIM disorders: 256810  
UniProtKB/Swiss-Prot: MPV17_HUMAN, P39210
  • Defects in MPV17 are the cause of mitochondrial DNA depletion syndrome type 6 (MTDPS6) [MIM:256810]. A disease
  • 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

    15 diseases for MPV17:    About MalaCards
    mitochondrial dna depletion syndrome    mitochondrial dna depletion syndrome 6 (hepatocerebral type)    nephrotic syndrome    glomerulosclerosis
    navajo neurohepatopathy    arteriolosclerosis    peripheral neuropathy    renal vascular disease
    osteomyelitis    leukodystrophy    vascular disease    neuropathy
    nephropathy    kidney disease    hepatitis

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

    3 Novoseek 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)

    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 31):
    (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. Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (PubMed id 20843780)1, 2 Wang W....Scharfe C. (2010)
    4. Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. (PubMed id 16909392)1, 2 Karadimas C.L.... Hirano M. (2006)
    5. Systematic identification of human mitochondrial disease genes through integrative genomics. (PubMed id 16582907)1, 2 Calvo S.... Mootha V.K. (2006)
    6. 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)
    7. 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)
    8. Glomerular sclerosis in transgenic mice: the Mpv-17 gene and its human homologue. (PubMed id 8427063)1, 2 Weiher H. (1993)
    9. 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)
    10. The glomerulosclerosis gene Mpv17 encodes a peroxisomal protein producing reactive oxygen species. (PubMed id 7957077)1, 9 Zwacka R.M....Weiher H. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for MPV17  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPV17   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MPV17  
     OriGene Protein Over-expression Lysate for MPV17   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for MPV17   OriGene 3'-UTR Clone for MPV17  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPV17   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPV17  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MPV17   OriGene Custom Protein Services for MPV17  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MPV17
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MPV17
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPV17
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPV17
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPV17
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPV17
     GenScript Custom Purified and Recombinant Proteins Services for MPV17 GenScript cDNA clones with any tag delivered in your preferred vector for MPV17
     GenScript Custom Assay Services for MPV17 GenScript Custom Superior Antibodies Services for MPV17
     GenScript Custom overexpressing Cell Line Services for MPV17 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in MPV17 promoter
     Search Chromatin IP Primers for MPV17
     RT2 qPCR Primer Assay in human, mouse, rat MPV17
     GNC Network for MPV17
     SABiosciences PCR Arrays including human, mouse, rat MPV17
     Search Tocris compounds for MPV17
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     MPV17 antibodies
     MPV17 proteins
     MPV17 lysates
     Antibodies for MPV17
     See all of Abcam's Antibodies, Kits and Proteins for MPV17
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     MPV17 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for MPV17
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPV17
     SwitchGear 3'UTR luciferase reporter plasmids for MPV17
     SwitchGear Promoter luciferase reporter plasmids for MPV17
     ThermoFisher Antibodies for MPV17
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPV17
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MPV17 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4