PARK7 Gene
protein-coding GIFtS: 67
GCID: GC01P007944
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|
parkinson protein 7(Previous names: Parkinson disease (autosomal recessive, early onset) 7...)
| |
Aliases
for PARK7 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Parkinson Protein 71 2 | | Oncogene DJ12 3 | | DJ11 2 5 | | Protein DJ-12 | | DJ-11 2 | | EC 3.4.-.-3 | | Parkinson Disease (Autosomal Recessive, Early Onset) 71 2 | | Parkinson Disease Protein 73 |
Export aliases for PARK7 gene to outside databasesPrevious GC identifers: GC01U990455 GC01P007830 GC01P007618 GC01P007731 GC01P007956 GC01P007169 |
Summaries
for PARK7 gene(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 PARK7:
The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgenreceptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidativestress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the causeof autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have beenidentified for this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497Function: Protects cells against oxidative stress and cell death. Plays a role in regulating expression or stability ofthe mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the substantia nigra parscompacta and attenuates the oxidative stress induced by calcium entry into the neurons via L-type channels duringpacemaking. Eliminates hydrogen peroxide and protects cells against hydrogen peroxide-induced cell death. May act asan atypical peroxiredoxin-like peroxidase that scavenges hydrogen peroxide. Following removal of a C-terminal peptide,displays protease activity and enhanced cytoprotective action against oxidative stress-induced apoptosis. StabilizesNFE2L2 by preventing its association with KEAP1 and its subsequent ubiquitination. Binds to OTUD7B and inhibits itsdeubiquitinating activity. Enhances RELA nuclear translocation. Binds to a number of mRNAs containing multiple copiesof GG or CC motifs and partially inhibits their translation but dissociates following oxidative stress. Required forcorrect mitochondrial morphology and function and for autophagy of dysfunctional mitochondria. Regulates astrocyteinflammatory responses. Acts as a positive regulator of androgen receptor-dependent transcription. Preventsaggregation of SNCA. Plays a role in fertilization. Has no proteolytic activity. Has cell-growth promoting activityand transforming activity. May function as a redox-sensitive chaperone
Gene Wiki entry for PARK7
|
Genomic Views
for PARK7 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_021937.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the PARK7 gene promoter:
PPAR-gamma1 POU2F1 SREBP-1a AML1a POU2F1a SREBP-1c PPAR-gamma2 Pax-4a SREBP-1b c-Ets-1
Other transcription factors
Search SABiosciences Chromatin IP Primers for PARK7
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PARK7 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36.23 Ensembl cytogenetic band: 1p36.23 HGNC cytogenetic band: 1p36.23PARK7 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01P007944: view genomic region
(about GC identifiers)
Start:
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8,014,351 bp from pter |
End:
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8,045,565 bp from pter |
Size:
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31,215 bases |
Orientation:
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plus strand |
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Proteins
for PARK7 gene
(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: PARK7_HUMAN, Q99497 (See
protein sequence)Recommended Name: Protein DJ-1 precursor Size: 189 amino acids; 19891 Da
Subunit: Homodimer. Binds EFCAB6/DJBP and PIAS2. Part of a ternary complex containing PARK7, EFCAB6/DJBP and AR.Interacts (via N-terminus) with OTUD7B. Interacts with BBS1, HIPK1, CLCF1 and MTERF
Subcellular location: Cytoplasm. Nucleus. Mitochondrion. Note=Under normal conditions, located predominantly in thecytoplasm and, to a lesser extent, in the nucleus and mitochondrion. Translocates to the mitochondrion andsubsequently to the nucleus in response to oxidative stress and exerts an increased cytoprotective effect againstoxidative damage. Detected in tau inclusions in brains from neurodegenerative disease patients
6/26 PDB 3D structures from  and Proteopedia  for PARK7 (see all 26):1J42 (3D)
1P5F (3D)
1PDV (3D)
1PDW (3D)
1PE0 (3D)
1Q2U (3D)
Secondary accessions: B2R4Z1 O14805 Q6DR95 Q7LFU2Explore the universe of human proteins at neXtProt for PARK7: NX_Q99497
Post-translational modifications:
Sumoylated on Lys-130 by PIAS2 or PIAS4; which is enhanced after ultraviolet irradiation and essential for cell-growthpromoting activity and transforming activity1
Cys-106 is easily oxidized to sulfinic acid1
Undergoes cleavage of a C-terminal peptide and subsequent activation of protease activity in response to oxidativestress1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q99497
PARK7 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_001116849.1 NP_009193.2
ENSEMBL proteins: ENSP00000465404 ENSP00000340278 ENSP00000418770 ENSP00000466242 ENSP00000366711 ENSP00000366708 ENSP00000466756
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
PARK7 for ontologies About GeneDecksing
PARK7 Antibody Products:
Assay Products for PARK7: |
Protein
Domains /
Families
for PARK7 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
PARK7 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q99497ProtoNet protein and cluster: Q99497 1 Blocks protein family: IPB002818 Family of unknown function ThiJ/PfpI
UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497Similarity: Belongs to the peptidase C56 family |
Function
for PARK7 gene
(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: PARK7_HUMAN, Q99497Function: Protects cells against oxidative stress and cell death. Plays a role in regulating expression or stability ofthe mitochondrial uncoupling proteins SLC25A14 and SLC25A27 in dopaminergic neurons of the substantia nigra parscompacta and attenuates the oxidative stress induced by calcium entry into the neurons via L-type channels duringpacemaking. Eliminates hydrogen peroxide and protects cells against hydrogen peroxide-induced cell death. May act asan atypical peroxiredoxin-like peroxidase that scavenges hydrogen peroxide. Following removal of a C-terminal peptide,displays protease activity and enhanced cytoprotective action against oxidative stress-induced apoptosis. StabilizesNFE2L2 by preventing its association with KEAP1 and its subsequent ubiquitination. Binds to OTUD7B and inhibits itsdeubiquitinating activity. Enhances RELA nuclear translocation. Binds to a number of mRNAs containing multiple copiesof GG or CC motifs and partially inhibits their translation but dissociates following oxidative stress. Required forcorrect mitochondrial morphology and function and for autophagy of dysfunctional mitochondria. Regulates astrocyteinflammatory responses. Acts as a positive regulator of androgen receptor-dependent transcription. Preventsaggregation of SNCA. Plays a role in fertilization. Has no proteolytic activity. Has cell-growth promoting activityand transforming activity. May function as a redox-sensitive chaperoneBiophysicochemical properties: Kinetic parameters: KM=173.4 uM for casein;Induction: By hydrogen peroxide and UV irradiationEnzyme Number (IUBMB): EC 3.4.-.-1
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 PARK7 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PARK7 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): PARK7 (NM_007262) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PARK7 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PARK7 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PARK7 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table
PARK7 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for PARK7:
Animal Models:
Mouse knock-outs for PARK7: Park7tm1Cai Park7tm1Tmd Park7tm1Xz Park7tm1Shn Park7tm1Dsp
5 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Park7):
PARK7 for phenotypes About GeneDecksing
|
Pathways & Interactions
for PARK7 gene
(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 - 5/8 super-pathways (see all 8) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Neuroscience | | | 2 | PI3K / Akt Signaling | | | 3 | Parkinsons Disease Pathway | | | 4 | Synaptic Vesicle Pathway | | | 5 | Alpha-synuclein signaling | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PARK7
2 
Cell Signaling Technology (CST) Pathways for PARK7
4  BioSystems Pathways for PARK7
1 
Kegg Pathway (Kegg details for PARK7):
PARK7 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PARK7
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/69 Interacting proteins for PARK7 (Q994971, 2, 3 ENSP000003402784) via UniProtKB, MINT, STRING, and/or I2D (see all 69)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| MTA2 | O947761, 3, ENSP000002788234 | EBI-1164361,EBI-1783035 I2D:
score=2 STRING: ENSP00000278823 | | OTUD7B | Q6GQQ91, 3, ENSP000003581314 | EBI-1164361,EBI-527784 I2D:
score=2 STRING: ENSP00000358131 | | AR | P102751, 3, ENSP000003638224 | EBI-1164361,EBI-608057 I2D:
score=1 STRING: ENSP00000363822 | | DAXX | Q9UER71, 3, ENSP000003968764 | EBI-1164361,EBI-77321 I2D:
score=2 STRING: ENSP00000396876 STRING: ENSP00000266000 | | PPP2R1A | P301533, ENSP000003248044 | I2D:
score=3 STRING: ENSP00000324804 |
About this table
Gene Ontology (GO): 5/28 biological process terms (GO ID links to tree view) (see all 28): About this table
PARK7 for ontologies About GeneDecksing
|
Drugs & Compounds
for PARK7 gene(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
|
PARK7 for compounds About GeneDecksing
 Browse Tocris compounds for PARK7
1 DrugBank Compound for PARK7 About this table
10/17 Novoseek chemical compound relationships for PARK7 gene (see all 17) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| e 64d |
76.3 |
9 |
15365989 (3), 17451229 (1), 20186336 (1), 15663963 (1) |
| sulfinic acid |
59.7 |
3 |
16403519 (2), 16181642 (1) |
| rotenone |
56 |
8 |
18377993 (3), 16439141 (2), 16854843 (2), 18930142 (1) |
| 6-hydroxydopamine |
51.9 |
8 |
18377993 (3), 18974921 (1), 16860563 (1), 16227205 (1) (see all 5) |
| dopamine |
46.9 |
33 |
16978583 (4), 18974921 (4), 19703902 (3), 16227205 (2) (see all 9) |
| cysteine |
34.6 |
35 |
16316629 (3), 19124468 (2), 16935423 (2), 18570440 (2) (see all 13) |
| h2o2 |
30.8 |
20 |
16935423 (2), 15081400 (2), 20046643 (2), 14652021 (1) (see all 10) |
| levodopa |
29.9 |
1 |
19703902 (1) |
| oxygen |
17.5 |
13 |
16403519 (1), 16115732 (1), 18430896 (1), 15219840 (1) (see all 12) |
| pyrimidine |
14.5 |
4 |
16731528 (2), 15790595 (1), 18689799 (1) |
Search CenterWatch for drugs/clinical trials and news about PARK7
|
Transcripts
for PARK7 gene(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 PARK7 gene (2 alternative transcripts): NM_001123377.1 NM_007262.4 Unigene Cluster for PARK7: Parkinson protein 7 Hs.419640 [show with all ESTs]Unigene Representative Sequence: BF96512110 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000493373 ENST00000460192 ENST00000338639(uc001aou.4 uc001aox.4 uc001aov.4)
ENST00000493678 ENST00000377493 ENST00000465354 ENST00000377491 ENST00000377488
ENST00000497113 ENST00000469225
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PARK7 (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PARK7 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): PARK7 (NM_007262) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for PARK7 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PARK7 |
Additional cDNA sequence: AB073864.1 AF021819.1 AK130886.1 AK312000.1 BC008188.2 D61380.2 24/30 DOTS entries (see all 30): DT.100864956 DT.448826 DT.91912005 DT.100864954 DT.100864946 DT.99944190 DT.91858715 DT.100723157 DT.121340910 DT.95171052 DT.100864949 DT.100864951 DT.100864952 DT.95171053 DT.91717622 DT.95171037 DT.100864945 DT.100864955 DT.121340885 DT.121340900 DT.121340908 DT.121340933 DT.121340949 DT.91778970 24/818 AceView cDNA sequences (see all 818): BM760096 BM760893 BU167723 D61380 BQ436114 AI174859 BM792160 AV704886 CD047909 BE550383 BM712090 AK091679 BG113506 BQ643180 BI085219 AX747125 BU533141 T34178 AA315511 BM771936 BI830621 BU159556 BM908816 AI042422
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for PARK7 (see all 8) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c |
|---|
|
| SP1: | | | | | | | - | | - | | - | | - | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | - | | - | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | | | | | |
| SP4: | | | | | | | - | | - | | - | | - | | | | | | - | | - | | | | | | - | | - | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | - | | | | | | | | | | | | | | - | | - | | | | | | | | | | | |
ECgene alternative splicing isoforms for PARK7
|
Expression
for PARK7 gene
(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
| PARK7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATAGGTTT
About this image
See PARK7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PARK7
SOURCE GeneReport for Unigene cluster: Hs.419640
UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497Tissue specificity: Highly expressed in pancreas, kidney, skeletal muscle, liver, testis and heart. Detected atslightly lower levels in placenta and brain. Detected in astrocytes, Sertoli cells, spermatogonia, spermatids andspermatozoa
SABiosciences Expression via Pathway-Focused PCR Arrays including PARK7:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PARK7
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PARK7 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PARK7 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PARK7 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PARK7 |
Orthologs
for PARK7 gene
(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 last universal common ancestor (LUCA).
Orthologs for PARK7 gene from 10/30 species (see all 30) About this table
ENSEMBL Gene Tree for PARK7 (if available)
TreeFam Gene Tree for PARK7 (if available) |
Paralogs
for PARK7 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for PARK7 gene
PARK7 for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for PARK7
PGOHUM00000239770 PGOHUM00000236716
|
Genomic Variants
for PARK7 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for PARK7 (8014351 - 8045565 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PARK7: --
Human Gene Mutation Database (HGMD): PARK7
Locus Specific Mutation Databases (LSDB): PARK7
| 1 SABiosciences Cancer Mutation PCR Assay for PARK7: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PARK7 |
|
Disorders
/ Diseases
for PARK7 gene
(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
|
PARK7 for disorders About GeneDecksing
OMIM gene information: 602533
OMIM disorders: 606324
UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497
Defects in PARK7 are the cause of Parkinson disease type 7 (PARK7) [MIM:606324]. A neurodegenerative disordercharacterized by resting tremor, postural tremor, bradykinesia, muscular rigidity, anxiety and psychotic episodes.PARK7 has onset before 40 years, slow progression and initial good response to levodopa. Some patients may show traitsreminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease)
20/65  diseases for PARK7 (see all 65): About MalaCardsparkinson's disease parkinson disease 7, autosomal recessive early-onset amyotrophic lateral sclerosis-parkinsonism/dementia complex 2 spinocerebellar ataxia type 17
inclusion body myositis supranuclear palsy amyotrophic lateral sclerosis clear cell renal cell carcinoma
spinocerebellar ataxia lateral sclerosis parkinson disease 10 squamous cell carcinoma
chronic obstructive pulmonary disease laryngeal squamous cell carcinoma short stature multiple system atrophy
tauopathy esophageal squamous cell carcinoma renal cell carcinoma pancreatic ductal adenocarcinoma
1 disease from the University of Copenhagen DISEASES database for PARK7:Parkinson's disease 10/20 Novoseek disease relationships for PARK7 gene (see all 20) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| parkinson disease |
89.2 |
181 |
20157014 (6), 14662519 (5), 15219840 (4), 14707326 (3) (see all 99) |
| autosomal recessive parkinsonism |
87.5 |
12 |
14638971 (3), 19429112 (2), 17914725 (1), 19297401 (1) (see all 7) |
| parkinsonism |
85.4 |
87 |
19429112 (5), 15565491 (2), 19124468 (2), 15542239 (2) (see all 47) |
| parkinsonism juvenile autosomal recessive |
81 |
10 |
14652021 (1), 14745011 (1), 17268184 (1), 19243613 (1) (see all 8) |
| parkinson disease, autosomal dominant |
76.4 |
2 |
15717024 (1) |
| neurodegenerative diseases |
74.9 |
18 |
19686841 (2), 14705119 (2), 17719794 (2), 18930142 (1) (see all 12) |
| neurodegeneration |
65.1 |
11 |
14712351 (2), 19023331 (1), 16115732 (1), 16439141 (1) (see all 9) |
| movement disorders |
64 |
1 |
18704525 (1) |
| tauopathies |
57.9 |
8 |
14991385 (2), 15935068 (1), 17085780 (1), 14705119 (1) |
| lewy body disease |
38.6 |
1 |
14625045 (1) |
GeneTests: PARK7
Parkinson Disease
Genetic Association Database (GAD): PARK7
Human Genome Epidemiology (HuGE) Navigator: PARK7 (24 documents)
Export disorders for PARK7 gene to outside databases
|
Publications
for PARK7 gene (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 PARK7 gene, integrated from 9 sources (see all 388):
(articles sorted by number of sources associating them with PARK7) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. (PubMed id 14872018)1, 2, 4, 9 Hedrich K.... Klein C. (2004)
- DJ-1, a novel oncogene which transforms mouse NIH3T3 cells in cooperation with ras. (PubMed id 9070310)1, 2, 3, 9 Nagakubo D.... Ariga H. (1997)
- Mitochondrial localization of DJ-1 leads to enhanced neuroprotection. (PubMed id 18711745)1, 2, 9 Junn E....Mouradian M.M. (2009)
- The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. (PubMed id 14662519)1, 2, 9 Bandopadhyay R.... Lees A.J. (2004)
- DJ-1 interacts with HIPK1 and affects H2O2-induced cell death. (PubMed id 16390825)1, 2, 9 Sekito A....Ariga H. (2006)
- The 1.1-A resolution crystal structure of DJ-1, the protein mutated in autosomal recessive early onset Parkinson's disease. (PubMed id 12855764)1, 2, 9 Wilson M.A.... Petsko G.A. (2003)
- A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo- oligomerization. (PubMed id 14713311)1, 2, 9 Moore D.J.... Dawson V.L. (2003)
- Crystal structure of DJ-1/RS and implication on familial Parkinson's disease. (PubMed id 12914946)1, 2, 9 Huai Q.... Ke H. (2003)
- Molecular cloning of human and mouse DJ-1 genes and identification of Sp1-dependent activation of the human DJ-1 promoter. (PubMed id 11223268)1, 2, 9 Taira T.... Ariga H. (2001)
- The role of pathogenic DJ-1 mutations in Parkinson's disease. (PubMed id 12953260)1, 2, 9 Abou-Sleiman P.M.... Wood N.W. (2003)
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External Searches for PARK7 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
|
Genome Databases showing PARK7 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
|
Other Databases showing PARK7 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PARK7 gene(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
|
| Name | Description |
| PharmGKB entry for PARK7 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for PARK7 | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PARK7 | | SHMPD | http://shmpd.bii.a-star.edu.sg/gene.php?genestart=P&genename=PARK7+%40+DJ-1 |
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About This Section
| Patent Information for PARK7 gene:
Search GeneIP for patents involving PARK7
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for PARK7 gene(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
|
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