PARK7 Gene
protein-coding GIFtS: 69
GCID: GC01P008014
|
|
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,
10fRNAdb,
12H-InvDB,
13NCBI,
14NONCODE,
and/or 15RNAdb)
About This Section
|
| Aliases |
|---|
| Parkinson Protein 71 2 | | DJ-12 | | Parkinson Disease (Autosomal Recessive, Early Onset) 71 2 | | Protein DJ-12 | | Oncogene DJ12 3 | | EC 3.4.-.-3 | | DJ12 5 | | Parkinson Disease Protein 73 |
Export aliases for PARK7 gene to outside databasesPrevious GC identifers: GC01U990455 GC01P007830 GC01P007618 GC01P007731 GC01P007956 GC01P007944 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 Gene:
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)
GeneCards Summary for PARK7 Gene: 
PARK7 (parkinson protein 7) is a protein-coding gene. Diseases associated with PARK7 include amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, and park7-related parkinson disease, and among its related super-pathways are Electron Transport Chain and Synaptic vesicle cycle. GO annotations related to this gene include mRNA binding and protein homodimerization activity.
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 Gene
|
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 73),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NT_021937.19 NC_018912.2
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 GC01P008014: view genomic region
(about GC identifiers)
Start:
|
8,014,351 bp from pter |
End:
|
8,045,565 bp from pter |
Size:
|
31,215 bases |
Orientation:
|
plus strand |
|
Proteins
for PARK7 gene
(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: 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
Explore proteomics data for PARK7 at MOPED
Post-translational modifications:
UniProtKB: Sumoylated on Lys-130 by PIAS2 or PIAS4; which is enhanced after ultraviolet irradiation and essential for cell-growthpromoting activity and transforming activity
UniProtKB: Cys-106 is easily oxidized to sulfinic acid
UniProtKB: Undergoes cleavage of a C-terminal peptide and subsequent activation of protease activity in response to oxidativestress
View modification sites using PhosphoSitePlusView neXtProt modification sites for NX_Q99497
PARK7 Protein expression data from MOPED1, PaxDb2 and
MAXQB3 : 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 for PARK7:
Gene Ontology (GO): 3 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 HGNC, IUPHAR, InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| HGNC Gene Families:
PARK: Parkinson disease
2 InterPro protein domains:Graphical View of Domain Structure for InterPro Entry Q99497ProtoNet protein and cluster: Q99497 1 Blocks protein domain: IPB002818 Family of unknown function ThiJ/PfpI
UniProtKB/Swiss-Prot: PARK7_HUMAN, Q99497Similarity: Belongs to the peptidase C56 family
PARK7 for domains About GeneDecksing
|
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,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
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: 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 irradiation Enzyme Number (IUBMB): EC 3.4.-.-1
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
Phenotypes:
1 GenomeRNAi human phenotype for PARK7:
5 MGI mutant phenotypes (inferred from 6 alleles ) (MGI details for Park7):
PARK7 for phenotypes About GeneDecksing
Animal Models:
Mouse knock-outs for PARK7: Park7tm1Cai Park7tm1Tmd Park7tm1Xz Park7tm1Shn Park7tm1Dsp
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PARK7 |
|
Pathways & Interactions
for PARK7 gene
(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 PARK7 About (see all 9) See pathways by source
| SuperPath | Contained pathways About |
|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | Synaptic vesicle cycle | | | 3 | TNF Signaling | | | 4 | CDK-mediated phosphorylation and removal of Cdc6 | | | 5 | Parkinsons Disease Pathway | |
Pathways by source See SuperPaths
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  Sino Biological Pathway 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)
5/75 Interacting proteins for PARK7 (Q994971, 2, 3 ENSP000003402784) via UniProtKB, MINT, STRING, and/or I2D (see all 75)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| ENSG00000206206 | Q9UER71, 3 | EBI-1164361,EBI-77321 I2D:
score=2 | | ENSG00000206279 | Q9UER71, 3 | EBI-1164361,EBI-77321 I2D:
score=2 | | ENSG00000227046 | Q9UER71, 3 | EBI-1164361,EBI-77321 I2D:
score=2 | | ENSG00000231617 | Q9UER71, 3 | EBI-1164361,EBI-77321 I2D:
score=2 | | MTA2 | O947761, 3, ENSP000002788234 | EBI-1164361,EBI-1783035 I2D:
score=2 STRING: ENSP00000278823 |
About this table
Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25): 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,
IUPHAR,
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 inferred 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 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,
Sirion Biotech,
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
Congresses - knowledge worth sharing: 
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014
Primer
Products: |  | OriGene qPCR primer pairs and template standards for PARK7
OriGene qSTAR qPCR primer pairs in human, mouse for PARK7
| | | 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 |
Additional mRNA 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): AA908891 BE515210 BF094931 BU521162 BI826586 AL558174 BM014914 BQ953110 CR616157 AA664387 BX324483 AA312271 H95132 BM739800 BM985360 BI856917 BM825330 BG754603 W67123 AA039589 AI870594 AA602784 BM972739 CD672896
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 <intensity>2/3
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 qPCR primer pairs and template standards for PARK7
OriGene qSTAR qPCR primer pairs in human, mouse for PARK7
| | | 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 common ancestor of eukaryotes.
Orthologs for PARK7 gene from 8/19 species (see all 19) 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,
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
|
| 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
Database of Genomic Variants (DGV) 2 variations for PARK7: About this table
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, Conferences by KenesGroup,
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
Parkinson disease 7 (PARK7) [MIM:606324]: A neurodegenerative disorder characterized 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 traits reminiscent of amyotrophiclateral sclerosis-parkinsonism/dementia complex (Guam disease). Note=The disease is caused by mutations affecting thegene represented in this entry
20/66  diseases for PARK7 (see all 66): About MalaCardsamyotrophic lateral sclerosis-parkinsonism/dementia complex 1 park7-related parkinson disease parkinson disease 7, autosomal recessive early-onset parkinson's disease
spinocerebellar ataxia type 17 tauopathy inclusion body myositis clear cell renal cell carcinoma
laryngeal carcinoma myositis multiple system atrophy brachydactyly
hepatitis b virus infection corneal dystrophy dementia pick's disease
tremor laryngitis was-related disorders spinocerebellar ataxia
1 disease from the University of Copenhagen DISEASES database for PARK7:Parkinson's disease
Congresses - knowledge worth sharing: 
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 201510/20 Novoseek inferred 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)
About This Section
|
PubMed articles for PARK7 gene, integrated from 9 sources (see all 404):
(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)
- Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism. (PubMed id 19429112)1, 4, 9 Tomiyama H....Hattori N. (2009)
|
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)
About This Section
|
|
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 |
|
| | |
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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory)
About This Section
|
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat PARK7 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PARK7 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PARK7 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PARK7 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PARK7 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PARK7 |
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