Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11315
Gene name Gene Name - the full gene name approved by the HGNC.
Parkinsonism associated deglycase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PARK7
Synonyms (NCBI Gene) Gene synonyms aliases
DJ-1, DJ1, GATD2, HEL-S-67p
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.23
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparentl
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28938172 T>C Pathogenic Coding sequence variant, missense variant
rs74315351 G>A Pathogenic Missense variant, coding sequence variant
rs74315352 A>C Pathogenic Missense variant, coding sequence variant
rs74315353 G>C Pathogenic Missense variant, coding sequence variant
rs74315354 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029955 hsa-miR-26b-5p Microarray 19088304
MIRT049137 hsa-miR-92a-3p CLASH 23622248
MIRT046823 hsa-miR-222-3p CLASH 23622248
MIRT046823 hsa-miR-222-3p CLASH 23622248
MIRT040717 hsa-miR-92b-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 16731528
GO:0001046 Function Core promoter sequence-specific DNA binding IC 15790595
GO:0001933 Process Negative regulation of protein phosphorylation IGI 15983381
GO:0002866 Process Positive regulation of acute inflammatory response to antigenic stimulus ISS
GO:0003690 Function Double-stranded DNA binding IDA 22683601
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602533 16369 ENSG00000116288
Protein
UniProt ID Q99497
Protein name Parkinson disease protein 7 (Maillard deglycase) (Oncogene DJ1) (Parkinsonism-associated deglycase) (Protein DJ-1) (DJ-1) (Protein/nucleic acid deglycase DJ-1) (EC 3.1.2.-, EC 3.5.1.-, EC 3.5.1.124)
Protein function Multifunctional protein with controversial molecular function which plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensitive chaperone and protease (PubMed:12796482,
PDB 1J42 , 1P5F , 1PDV , 1PDW , 1PE0 , 1Q2U , 1SOA , 1UCF , 2OR3 , 2R1T , 2R1U , 2R1V , 2RK3 , 2RK4 , 2RK6 , 3B36 , 3B38 , 3B3A , 3BWE , 3CY6 , 3CYF , 3CZ9 , 3CZA , 3EZG , 3F71 , 3SF8 , 4BTE , 4MNT , 4MTC , 4N0M , 4N12 , 4OGF , 4OQ4 , 4P2G , 4P34 , 4P35 , 4P36 , 4RKW , 4RKY , 4S0Z , 4ZGG , 5IP5 , 5SY6 , 5SY9 , 5SYA , 6AF5 , 6AF7 , 6AF9 , 6AFA , 6AFB , 6AFC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01965 DJ-1_PfpI 4 171 DJ-1/PfpI family Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in pancreas, kidney, skeletal muscle, liver, testis and heart. Detected at slightly lower levels in placenta and brain (at protein level). Detected in astrocytes, Sertoli cells, spermatogonia, spermatids and spermatozo
Sequence
Sequence length 189
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Parkinson disease
Pathways of neurodegeneration - multiple diseases
  SUMOylation of transcription cofactors
Aggrephagy
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Guam Form rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
Dysautonomia Dysautonomia rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086
View all (27 more)
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 28067908, 23128233
Osteoporosis Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Post-Traumatic Osteoporosis rs72658152, rs72667023, rs587776916, rs72656370, rs768615287 18924182
Unknown
Disease term Disease name Evidence References Source
Crohn disease Crohn Disease 26974007, 26192919 ClinVar
Mental depression Depressive disorder ClinVar
Celiac disease Celiac disease GWAS
Ulcerative colitis Ulcerative colitis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 38095634
Adenocarcinoma of Lung Stimulate 38304191
Adenoma Associate 21983636
Adenomatous Polyposis Coli Associate 21411865
AIDS Associated Nephropathy Associate 31805958
Alzheimer Disease Stimulate 18601999
Alzheimer Disease Associate 31405128, 32485097
Amyotrophic Lateral Sclerosis Associate 24567322, 25681989, 31405128, 35666053
Arthritis Rheumatoid Associate 35896699
Asthenozoospermia Inhibit 21575935