PARK2
MCID: PRK089
MIFTS: 55

Parkinson Disease 2, Autosomal Recessive Juvenile (PARK2)

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Parkinson Disease 2, Autosomal Recessive Juvenile

MalaCards integrated aliases for Parkinson Disease 2, Autosomal Recessive Juvenile:

Name: Parkinson Disease 2, Autosomal Recessive Juvenile 57 73
Young-Onset Parkinson Disease 53 59 29 6
Parkinson Disease 2 53 75 29 6
Park2 57 53 75
Pdj 57 53 75
Autosomal Recessive Juvenile Parkinson Disease 53 75
Parkinson Disease, Juvenile, Type 2 57 13
Early-Onset Parkinson Disease 53 59
Epdf 57 75
Parkinsonism, Early-Onset, with Diurnal Fluctuation; Epdf 57
Autosomal Recessive Early-Onset Parkinson Disease Type 2 75
Parkinson Disease, Juvenile, Autosomal Recessive; Pdj 57
Chromosome 6-Linked Autosomal Recessive Parkinsonism 75
Parkinsonism, Early-Onset, with Diurnal Fluctuation 57
Parkinsonism, Early Onset, with Diurnal Fluctuation 53
Autosomal Recessive Juvenile Parkinson's Disease 2 12
Parkinson Disease Autosomal Recessive, Early Onset 53
Early-Onset Parkinsonism with Diurnal Fluctuation 75
Parkinson Disease, Juvenile, Autosomal Recessive 57
Autosomal Recessive Juvenile Parkinson Disease 2 12
Parkinsonism Young Adult Onset 75
Parkinson Disease, Type 2 40
Parkinsonism, Juvenile 73
Juvenile Parkinsonism 53
Yopd 59
Jp 53

Characteristics:

Orphanet epidemiological data:

59
young-onset parkinson disease
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Europe); Age of onset: Adult; Age of death: elderly;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
levodopa-responsive
onset before age 40 years
symptoms improve following sleep
high frequency of levodopa-induced dyskinesias
see also park6 , park7 , and park9 for autosomal recessive disorders with overlapping phenotypes


HPO:

32
parkinson disease 2, autosomal recessive juvenile:
Onset and clinical course adult onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 600116
Disease Ontology 12 DOID:0060368
Orphanet 59 ORPHA2828
ICD10 via Orphanet 34 G20
MedGen 42 C1868675
MeSH 44 D020734

Summaries for Parkinson Disease 2, Autosomal Recessive Juvenile

UniProtKB/Swiss-Prot : 75 Parkinson disease 2: A neurodegenerative disorder characterized by bradykinesia, rigidity, postural instability, tremor, and onset usually before 40. It differs from classic Parkinson disease by early DOPA-induced dyskinesia, diurnal fluctuation of the symptoms, sleep benefit, dystonia and hyper-reflexia. Dementia is absent. Pathologically, patients show loss of dopaminergic neurons in the substantia nigra, similar to that seen in Parkinson disease; however, Lewy bodies (intraneuronal accumulations of aggregated proteins) are absent.

MalaCards based summary : Parkinson Disease 2, Autosomal Recessive Juvenile, also known as young-onset parkinson disease, is related to atypical juvenile parkinsonism and parkinson disease 6, autosomal recessive early-onset, and has symptoms including tremor, bradykinesia and muscle rigidity. An important gene associated with Parkinson Disease 2, Autosomal Recessive Juvenile is PRKN (Parkin RBR E3 Ubiquitin Protein Ligase), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Chks in Checkpoint Regulation. The drugs Adalimumab and Etanercept have been mentioned in the context of this disorder. Affiliated tissues include lung, prostate and myeloid, and related phenotypes are gait disturbance and tremor

Disease Ontology : 12 A Parkinson's disease that has material basis in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27.

Description from OMIM: 600116

Related Diseases for Parkinson Disease 2, Autosomal Recessive Juvenile

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson's Disease Early-Onset Parkinson's Disease
Lrrk2-Related Parkinson Disease Vps35-Related Parkinson Disease
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease 2, Autosomal Recessive Juvenile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 atypical juvenile parkinsonism 33.5 DNAJC6 PODXL
2 parkinson disease 6, autosomal recessive early-onset 32.8 PARK7 PINK1
3 parkinson disease 15, autosomal recessive early-onset 32.0 PRKN SNCA
4 parkinson disease, late-onset 30.2 DNAJC6 HTRA2 LRRK2 PARK7 PINK1 PODXL
5 rem sleep behavior disorder 29.7 LRRK2 SNCA
6 early-onset parkinson's disease 29.6 DNAJC6 LRRK2 PARK7 PINK1 PRKN SNCA
7 dementia 29.2 LRRK2 PARK7 PRKN SNCA
8 pink1 type of young-onset parkinson disease 12.6
9 parkin type of early-onset parkinson disease 12.5
10 juvenile polyposis syndrome 12.3
11 parkinson disease 20, early-onset 12.1
12 parkinson disease 23, autosomal recessive early-onset 12.1
13 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 11.9
14 parkinson disease 7, autosomal recessive early-onset 11.7
15 parkinson disease 19a, juvenile-onset 11.5
16 waisman syndrome 11.3
17 perry syndrome 11.1
18 parkinson disease type 9 11.1
19 periodontitis, aggressive, 1 11.1
20 hypoglycemia 10.2
21 autism 10.2
22 autism spectrum disorder 10.2
23 japanese encephalitis 10.1
24 muscular dystrophy, congenital, megaconial type 10.1 PINK1 PRKN
25 dysautonomia 10.1 PRKN SNCA
26 hereditary hemorrhagic telangiectasia 10.0
27 bowenoid papulosis 10.0
28 colorectal cancer 10.0
29 attention deficit-hyperactivity disorder 10.0
30 lung cancer 10.0
31 neuropathy 10.0
32 hereditary late-onset parkinson disease 10.0 LRRK2 SNCA
33 neuronal intranuclear inclusion disease 10.0
34 postencephalitic parkinson disease 9.9 LRRK2 SNCA
35 alacrima, achalasia, and mental retardation syndrome 9.9
36 dystonia 9.9
37 multiple sclerosis 9.9
38 prostate cancer 9.9
39 retinoblastoma 9.9
40 arthritis 9.9
41 pemphigus foliaceus 9.9
42 atrial fibrillation 9.9
43 leukodystrophy 9.9
44 nephrotic syndrome 9.9
45 telangiectasis 9.9
46 cholecystitis 9.9
47 papilloma 9.9
48 lynch syndrome 9.9
49 biliary dyskinesia 9.9
50 juvenile rheumatoid arthritis 9.9

Graphical network of the top 20 diseases related to Parkinson Disease 2, Autosomal Recessive Juvenile:



Diseases related to Parkinson Disease 2, Autosomal Recessive Juvenile

Symptoms & Phenotypes for Parkinson Disease 2, Autosomal Recessive Juvenile

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
tremor
dystonia
rigidity
bradykinesia
postural instability
more

Clinical features from OMIM:

600116

Human phenotypes related to Parkinson Disease 2, Autosomal Recessive Juvenile:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 32 HP:0001288
2 tremor 32 HP:0001337
3 hyperreflexia 32 HP:0001347
4 dystonia 32 HP:0001332
5 rigidity 32 HP:0002063
6 bradykinesia 32 HP:0002067
7 parkinsonism 32 HP:0001300
8 postural instability 32 HP:0002172
9 substantia nigra gliosis 32 HP:0011960

UMLS symptoms related to Parkinson Disease 2, Autosomal Recessive Juvenile:


tremor, bradykinesia, muscle rigidity

MGI Mouse Phenotypes related to Parkinson Disease 2, Autosomal Recessive Juvenile:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 HTRA2 LRRK2 PARK7 PINK1 PRKN SNCA
2 cardiovascular system MP:0005385 9.63 HTRA2 LRRK2 PINK1 PRKN SNCA UCHL1
3 homeostasis/metabolism MP:0005376 9.56 HTRA2 LRRK2 PARK7 PINK1 PRKN SNCA
4 nervous system MP:0003631 9.23 DNAJC6 HTRA2 LRRK2 PARK7 PINK1 PRKN

Drugs & Therapeutics for Parkinson Disease 2, Autosomal Recessive Juvenile

Drugs for Parkinson Disease 2, Autosomal Recessive Juvenile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Adalimumab Approved 331731-18-1 16219006
2
Etanercept Approved, Investigational 185243-69-0
3
Infliximab Approved 170277-31-3
4 Insulin, Globin Zinc
5 insulin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Proof of Concept BeatPark Unknown status NCT02647242 Not Applicable
2 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970
3 An Observational Study to Evaluate Safety and Efficacy of Remsima™ in Patients With Ankylosing Spondylitis Recruiting NCT02557308
4 An Observational Study to Evaluate Safety and Efficacy of Remsima™ in Patients With RA Recruiting NCT02557295
5 To Evaluate the Safety and Efficacy of Remsima™ in Patients With Crohn's Disease (CD) or Ulcerative Colitis (UC) Recruiting NCT02326155
6 Mutations Associated With Parkinson s Disease Terminated NCT01547832

Search NIH Clinical Center for Parkinson Disease 2, Autosomal Recessive Juvenile

Genetic Tests for Parkinson Disease 2, Autosomal Recessive Juvenile

Genetic tests related to Parkinson Disease 2, Autosomal Recessive Juvenile:

# Genetic test Affiliating Genes
1 Parkinson Disease 2 29 PRKN
2 Young-Onset Parkinson Disease 29

Anatomical Context for Parkinson Disease 2, Autosomal Recessive Juvenile

MalaCards organs/tissues related to Parkinson Disease 2, Autosomal Recessive Juvenile:

41
Lung, Prostate, Myeloid

Publications for Parkinson Disease 2, Autosomal Recessive Juvenile

Articles related to Parkinson Disease 2, Autosomal Recessive Juvenile:

# Title Authors Year
1
Understanding uncertainty in young-onset Parkinson disease. ( 29119863 )
2017
2
A coincidental case of young-onset Parkinson disease and multiple sclerosis. ( 21881474 )
2011
3
ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. ( 17485642 )
2007
4
Young-onset Parkinson disease with and without parkin gene mutations: a fluorodopa F 18 positron emission tomography study. ( 12756135 )
2003
5
PINK1 Type of Young-Onset Parkinson Disease ( 20301792 )
1993
6
Gardening and young onset Parkinson disease. ( 2793422 )
1989

Variations for Parkinson Disease 2, Autosomal Recessive Juvenile

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 2, Autosomal Recessive Juvenile:

75 (show all 26)
# Symbol AA change Variation ID SNP ID
1 PRKN p.Val15Met VAR_019733 rs532703934
2 PRKN p.Arg33Gln VAR_019734 rs147757966
3 PRKN p.Pro37Leu VAR_019735 rs148990138
4 PRKN p.Arg42Pro VAR_019736 rs368134308
5 PRKN p.Ala46Pro VAR_019737
6 PRKN p.Ala82Glu VAR_019738 rs55774500
7 PRKN p.Ala92Val VAR_019739 rs566229879
8 PRKN p.Lys161Asn VAR_019741 rs137853057
9 PRKN p.Lys211Asn VAR_019744 rs137853060
10 PRKN p.Cys212Tyr VAR_019746 rs137853058
11 PRKN p.Thr240Met VAR_019747 rs137853054
12 PRKN p.Thr240Arg VAR_019748 rs137853054
13 PRKN p.Arg256Cys VAR_019750 rs150562946
14 PRKN p.Arg275Trp VAR_019752 rs34424986
15 PRKN p.Gly284Arg VAR_019754 rs751037529
16 PRKN p.Cys289Gly VAR_019755 rs55961220
17 PRKN p.Gly328Glu VAR_019756
18 PRKN p.Thr351Pro VAR_019759
19 PRKN p.Thr415Asn VAR_019763 rs778125254
20 PRKN p.Gly430Asp VAR_019764 rs191486604
21 PRKN p.Cys431Phe VAR_019765 rs397514694
22 PRKN p.Pro437Leu VAR_019766 rs149953814
23 PRKN p.Cys441Arg VAR_019767 rs778305273
24 PRKN p.Val56Glu VAR_070078 rs137853059
25 PRKN p.Arg402Cys VAR_070079 rs55830907
26 PRKN p.Cys418Arg VAR_070080

ClinVar genetic disease variations for Parkinson Disease 2, Autosomal Recessive Juvenile:

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKN NM_004562.2(PRKN): c.172-?_871+?del deletion Pathogenic GRCh37 Chromosome 6, 162206804: 162683797
2 PRKN NM_004562.2(PRKN): c.172-?_871+?del deletion Pathogenic GRCh38 Chromosome 6, 161785772: 162262765
3 PRKN NM_004562.2(PRKN): c.413-?_534+?del deletion Pathogenic GRCh38 Chromosome 6, 162201131: 162201252
4 PRKN NM_004562.2(PRKN): c.413-?_534+?del deletion Pathogenic GRCh37 Chromosome 6, 162622163: 162622284
5 PRKN NM_004562.2(PRKN): c.719C> G (p.Thr240Arg) single nucleotide variant Pathogenic rs137853054 GRCh37 Chromosome 6, 162394349: 162394349
6 PRKN NM_004562.2(PRKN): c.719C> G (p.Thr240Arg) single nucleotide variant Pathogenic rs137853054 GRCh38 Chromosome 6, 161973317: 161973317
7 PRKN NM_004562.2(PRKN): c.931C> T (p.Gln311Ter) single nucleotide variant Pathogenic rs137853055 GRCh37 Chromosome 6, 161990389: 161990389
8 PRKN NM_004562.2(PRKN): c.931C> T (p.Gln311Ter) single nucleotide variant Pathogenic rs137853055 GRCh38 Chromosome 6, 161569357: 161569357
9 PRKN NM_004562.2(PRKN): c.245C> A (p.Ala82Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs55774500 GRCh37 Chromosome 6, 162683724: 162683724
10 PRKN NM_004562.2(PRKN): c.245C> A (p.Ala82Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs55774500 GRCh38 Chromosome 6, 162262692: 162262692
11 PRKN NM_004562.2(PRKN): c.8-?_171+?del deletion Pathogenic GRCh37 Chromosome 6, 162864342: 162864505
12 PRKN NM_004562.2(PRKN): c.8-?_171+?del deletion Pathogenic GRCh38 Chromosome 6, 162443310: 162443473
13 PRKN NM_004562.2(PRKN): c.872-?_1083+?del deletion Pathogenic GRCh38 Chromosome 6, 161548854: 161569416
14 PRKN NM_004562.2(PRKN): c.872-?_1083+?del deletion Pathogenic GRCh37 Chromosome 6, 161969886: 161990448
15 PRKN NM_004562.2(PRKN): c.1358G> A (p.Trp453Ter) single nucleotide variant Pathogenic rs137853056 GRCh37 Chromosome 6, 161771171: 161771171
16 PRKN NM_004562.2(PRKN): c.1358G> A (p.Trp453Ter) single nucleotide variant Pathogenic rs137853056 GRCh38 Chromosome 6, 161350139: 161350139
17 PRKN NM_004562.2(PRKN): c.483A> T (p.Lys161Asn) single nucleotide variant Pathogenic rs137853057 GRCh37 Chromosome 6, 162622214: 162622214
18 PRKN NM_004562.2(PRKN): c.483A> T (p.Lys161Asn) single nucleotide variant Pathogenic rs137853057 GRCh38 Chromosome 6, 162201182: 162201182
19 PRKN PARK2, 1-BP DEL, 202A deletion Pathogenic
20 PRKN NM_004562.2(PRKN): c.735-?_871+?del deletion Pathogenic GRCh37 Chromosome 6, 162206804: 162206940
21 PRKN NM_004562.2(PRKN): c.735-?_871+?del deletion Pathogenic GRCh38 Chromosome 6, 161785772: 161785908
22 PRKN NM_004562.2(PRKN): c.635G> A (p.Cys212Tyr) single nucleotide variant Pathogenic rs137853058 GRCh37 Chromosome 6, 162394433: 162394433
23 PRKN NM_004562.2(PRKN): c.635G> A (p.Cys212Tyr) single nucleotide variant Pathogenic rs137853058 GRCh38 Chromosome 6, 161973401: 161973401
24 PRKN NM_004562.2(PRKN): c.167T> A (p.Val56Glu) single nucleotide variant Pathogenic rs137853059 GRCh37 Chromosome 6, 162864346: 162864346
25 PRKN NM_004562.2(PRKN): c.167T> A (p.Val56Glu) single nucleotide variant Pathogenic rs137853059 GRCh38 Chromosome 6, 162443314: 162443314
26 PRKN PARK2, 1-BP DEL, 255A deletion Pathogenic
27 PRKN NM_004562.2(PRKN): c.823C> T (p.Arg275Trp) single nucleotide variant Pathogenic rs34424986 GRCh37 Chromosome 6, 162206852: 162206852
28 PRKN NM_004562.2(PRKN): c.823C> T (p.Arg275Trp) single nucleotide variant Pathogenic rs34424986 GRCh38 Chromosome 6, 161785820: 161785820
29 PRKN NM_004562.2(PRKN): c.633A> T (p.Lys211Asn) single nucleotide variant Pathogenic rs137853060 GRCh37 Chromosome 6, 162394435: 162394435
30 PRKN NM_004562.2(PRKN): c.633A> T (p.Lys211Asn) single nucleotide variant Pathogenic rs137853060 GRCh38 Chromosome 6, 161973403: 161973403
31 PRKN PARK2, 1-BP DEL, 1072T deletion Pathogenic
32 PRKN NM_004562.2(PRKN): c.7+1G> T single nucleotide variant Pathogenic rs397518439 GRCh37 Chromosome 6, 163148693: 163148693
33 PRKN NM_004562.2(PRKN): c.7+1G> T single nucleotide variant Pathogenic rs397518439 GRCh38 Chromosome 6, 162727661: 162727661
34 PRKN NM_004562.2(PRKN): c.719C> T (p.Thr240Met) single nucleotide variant Conflicting interpretations of pathogenicity rs137853054 GRCh37 Chromosome 6, 162394349: 162394349
35 PRKN NM_004562.2(PRKN): c.719C> T (p.Thr240Met) single nucleotide variant Conflicting interpretations of pathogenicity rs137853054 GRCh38 Chromosome 6, 161973317: 161973317
36 PRKN PARK2, EX5-6DEL deletion Pathogenic
37 PRKN NM_004562.2(PRKN): c.1096C> T (p.Arg366Trp) single nucleotide variant Likely benign rs56092260 GRCh37 Chromosome 6, 161807897: 161807897
38 PRKN NM_004562.2(PRKN): c.1096C> T (p.Arg366Trp) single nucleotide variant Likely benign rs56092260 GRCh38 Chromosome 6, 161386865: 161386865
39 PRKN NM_004562.2(PRKN): c.1138G> C (p.Val380Leu) single nucleotide variant Benign/Likely benign rs1801582 GRCh37 Chromosome 6, 161807855: 161807855
40 PRKN NM_004562.2(PRKN): c.1138G> C (p.Val380Leu) single nucleotide variant Benign/Likely benign rs1801582 GRCh38 Chromosome 6, 161386823: 161386823
41 PRKN NM_004562.2(PRKN): c.1180G> A (p.Asp394Asn) single nucleotide variant Benign rs1801334 GRCh37 Chromosome 6, 161781225: 161781225
42 PRKN NM_004562.2(PRKN): c.1180G> A (p.Asp394Asn) single nucleotide variant Benign rs1801334 GRCh38 Chromosome 6, 161360193: 161360193
43 PRKN NM_004562.2(PRKN): c.500G> A (p.Ser167Asn) single nucleotide variant Benign/Likely benign rs1801474 GRCh37 Chromosome 6, 162622197: 162622197
44 PRKN NM_004562.2(PRKN): c.500G> A (p.Ser167Asn) single nucleotide variant Benign/Likely benign rs1801474 GRCh38 Chromosome 6, 162201165: 162201165
45 PRKN NM_004562.2(PRKN): c.1292G> T (p.Cys431Phe) single nucleotide variant Pathogenic rs397514694 GRCh37 Chromosome 6, 161771237: 161771237
46 PRKN NM_004562.2(PRKN): c.1292G> T (p.Cys431Phe) single nucleotide variant Pathogenic rs397514694 GRCh38 Chromosome 6, 161350205: 161350205
47 PODXL NM_005397.3(PODXL): c.89_90insGTCGCCCC (p.Gln32Profs) insertion Likely pathogenic rs759639123 GRCh37 Chromosome 7, 131241029: 131241030
48 PODXL NM_005397.3(PODXL): c.89_90insGTCGCCCC (p.Gln32Profs) insertion Likely pathogenic rs759639123 GRCh38 Chromosome 7, 131556270: 131556271
49 PRKN NM_004562.2(PRKN): c.1071C> G (p.Gly357=) single nucleotide variant Likely benign rs878854707 GRCh37 Chromosome 6, 161969898: 161969898
50 PRKN NM_004562.2(PRKN): c.1071C> G (p.Gly357=) single nucleotide variant Likely benign rs878854707 GRCh38 Chromosome 6, 161548866: 161548866

Copy number variations for Parkinson Disease 2, Autosomal Recessive Juvenile from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 207846 6 161688579 163068824 Deletion PARK2 Early-onset parkinson disease

Expression for Parkinson Disease 2, Autosomal Recessive Juvenile

Search GEO for disease gene expression data for Parkinson Disease 2, Autosomal Recessive Juvenile.

Pathways for Parkinson Disease 2, Autosomal Recessive Juvenile

GO Terms for Parkinson Disease 2, Autosomal Recessive Juvenile

Cellular components related to Parkinson Disease 2, Autosomal Recessive Juvenile according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.93 HTRA2 LRRK2 PARK7 PRKN UCHL1
2 intracellular membrane-bounded organelle GO:0043231 9.85 DNAJC6 LRRK2 PODXL SNCA
3 perinuclear region of cytoplasm GO:0048471 9.83 PARK7 PINK1 PRKN SNCA
4 mitochondrion GO:0005739 9.8 HTRA2 LRRK2 PARK7 PINK1 PRKN SNCA
5 membrane raft GO:0045121 9.69 LRRK2 PARK7 PODXL
6 growth cone GO:0030426 9.63 LRRK2 PINK1 SNCA
7 mitochondrial outer membrane GO:0005741 9.62 LRRK2 PINK1 SNCA VPS13C
8 chromatin GO:0000785 9.61 HTRA2 PARK7 PINK1
9 mitochondrial respiratory chain complex I GO:0005747 9.57 PARK7 SNCA
10 terminal bouton GO:0043195 9.56 LRRK2 SNCA
11 axon GO:0030424 9.55 LRRK2 PARK7 PINK1 SNCA UCHL1
12 inclusion body GO:0016234 9.48 LRRK2 SNCA
13 Lewy body GO:0097413 9.37 PINK1 PRKN
14 presynapse GO:0098793 9.26 DNAJC6 PARK7 PRKN SNCA
15 mitochondrial intermembrane space GO:0005758 8.92 HTRA2 PARK7 PINK1 SNCA
16 cytoplasm GO:0005737 10.15 DNAJC6 LRRK2 PARK7 PINK1 PODXL PRKN
17 cytosol GO:0005829 10.06 DNAJC6 HTRA2 LRRK2 PARK7 PINK1 PRKN

Biological processes related to Parkinson Disease 2, Autosomal Recessive Juvenile according to GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 ubiquitin-dependent protein catabolic process GO:0006511 9.9 PINK1 PRKN UCHL1
2 negative regulation of gene expression GO:0010629 9.89 PARK7 PINK1 PRKN
3 protein stabilization GO:0050821 9.87 PARK7 PINK1 PRKN
4 autophagy GO:0006914 9.86 LRRK2 PARK7 PINK1 PRKN
5 response to oxidative stress GO:0006979 9.85 LRRK2 PINK1 PRKN
6 negative regulation of neuron apoptotic process GO:0043524 9.83 PARK7 PINK1 PRKN SNCA
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.81 PARK7 PINK1 SNCA
8 negative regulation of cell death GO:0060548 9.78 HTRA2 PARK7 PRKN
9 negative regulation of protein phosphorylation GO:0001933 9.73 LRRK2 PARK7 PRKN SNCA
10 protein destabilization GO:0031648 9.72 PRKN SNCA
11 response to ischemia GO:0002931 9.72 PINK1 UCHL1
12 autophagy of mitochondrion GO:0000422 9.71 PINK1 PRKN
13 activation of protein kinase B activity GO:0032148 9.71 PARK7 PINK1
14 regulation of canonical Wnt signaling pathway GO:0060828 9.71 LRRK2 PRKN
15 adult walking behavior GO:0007628 9.71 HTRA2 UCHL1
16 regulation of dopamine secretion GO:0014059 9.71 PRKN SNCA
17 adult locomotory behavior GO:0008344 9.71 HTRA2 PARK7 PRKN SNCA
18 positive regulation of protein targeting to mitochondrion GO:1903955 9.7 HTRA2 PINK1
19 negative regulation of JNK cascade GO:0046329 9.7 PINK1 PRKN
20 regulation of neuron apoptotic process GO:0043523 9.7 PARK7 PINK1
21 negative regulation of reactive oxygen species metabolic process GO:2000378 9.69 PINK1 PRKN
22 regulation of neurotransmitter secretion GO:0046928 9.69 PRKN SNCA
23 regulation of neuron death GO:1901214 9.69 LRRK2 SNCA
24 regulation of mitochondrial membrane potential GO:0051881 9.69 PARK7 PINK1 PRKN
25 cellular protein catabolic process GO:0044257 9.68 HTRA2 PRKN
26 regulation of autophagy of mitochondrion GO:1903146 9.68 HTRA2 PINK1
27 regulation of mitochondrion organization GO:0010821 9.68 PINK1 PRKN
28 regulation of protein ubiquitination GO:0031396 9.68 PINK1 PRKN
29 negative regulation of hydrogen peroxide-induced cell death GO:1903206 9.67 LRRK2 PARK7
30 dopamine metabolic process GO:0042417 9.67 PRKN SNCA
31 regulation of reactive oxygen species metabolic process GO:2000377 9.67 PINK1 PRKN SNCA
32 positive regulation of mitochondrial fission GO:0090141 9.66 PINK1 PRKN
33 cellular response to dopamine GO:1903351 9.66 LRRK2 PRKN
34 negative regulation of autophagosome assembly GO:1902902 9.65 LRRK2 PINK1
35 negative regulation of macroautophagy GO:0016242 9.65 LRRK2 PINK1
36 negative regulation of oxidative stress-induced neuron death GO:1903204 9.65 PARK7 PINK1
37 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.65 LRRK2 PARK7 PRKN
38 cellular response to manganese ion GO:0071287 9.64 LRRK2 PRKN
39 regulation of locomotion GO:0040012 9.64 LRRK2 SNCA
40 cellular response to toxic substance GO:0097237 9.63 PINK1 PRKN
41 synaptic transmission, dopaminergic GO:0001963 9.63 PARK7 PRKN SNCA
42 positive regulation of autophagy of mitochondrion GO:1903599 9.62 PARK7 PRKN
43 protein localization to mitochondrion GO:0070585 9.62 LRRK2 PRKN
44 regulation of protein targeting to mitochondrion GO:1903214 9.61 PINK1 PRKN
45 positive regulation of histone deacetylase activity GO:1901727 9.6 LRRK2 PINK1
46 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.59 PINK1 PRKN
47 regulation of cellular response to oxidative stress GO:1900407 9.58 PINK1 PRKN
48 negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway GO:1903377 9.58 PARK7 PRKN
49 mitochondrion to lysosome transport GO:0099074 9.57 PINK1 PRKN
50 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 9.55 PARK7 PINK1

Molecular functions related to Parkinson Disease 2, Autosomal Recessive Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.65 HTRA2 LRRK2 PARK7 PRKN SNCA
2 ubiquitin protein ligase binding GO:0031625 9.58 PINK1 PRKN UCHL1
3 clathrin binding GO:0030276 9.37 DNAJC6 LRRK2
4 Hsp70 protein binding GO:0030544 9.32 PRKN SNCA
5 ubiquitin-specific protease binding GO:1990381 9.16 PARK7 PRKN
6 phospholipase binding GO:0043274 8.96 PRKN SNCA
7 cuprous ion binding GO:1903136 8.62 PARK7 SNCA

Sources for Parkinson Disease 2, Autosomal Recessive Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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