PRKN Gene (Protein Coding)

Parkin RBR E3 Ubiquitin Protein Ligase

GC06M161348
GIFtS:
41
The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple t... See more...

Aliases for PRKN Gene

Aliases for PRKN Gene

  • Parkin RBR E3 Ubiquitin Protein Ligase 2 3 5
  • Parkinson Disease (Autosomal Recessive, Juvenile) 2, Parkin 2 3
  • Parkinson Protein 2, E3 Ubiquitin Protein Ligase (Parkin) 2 3
  • Parkinson Juvenile Disease Protein 2 3 4
  • E3 Ubiquitin-Protein Ligase Parkin 3 4
  • PARK2 3 4
  • Parkinson Protein 2 E3 Ubiquitin Protein Ligase 3
  • Parkin RBR E3 Ubiquitin-Protein Ligase 4
  • Parkinson Disease Protein 2 4
  • E3 Ubiquitin Ligase 2
  • EC 2.3.2.31 4
  • Parkin 4
  • AR-JP 3
  • LPRS2 3
  • PDJ 3

External Ids for PRKN Gene

Previous HGNC Symbols for PRKN Gene

  • PARK2

Summaries for PRKN Gene

Entrez Gene Summary for PRKN Gene

  • The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]

CIViC Summary for PRKN Gene

GeneCards Summary for PRKN Gene

PRKN (Parkin RBR E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with PRKN include Parkinson Disease 2, Autosomal Recessive Juvenile and Leprosy 2. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Mitophagy. An important paralog of this gene is ANKIB1.

UniProtKB/Swiss-Prot Summary for PRKN Gene

  • Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins, such as BCL2, SYT11, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPTIN5, TOMM20, USP30, ZNF746 and AIMP2 (PubMed:10973942, PubMed:10888878, PubMed:11431533, PubMed:12150907, PubMed:12628165, PubMed:16135753, PubMed:21376232, PubMed:23754282, PubMed:23620051, PubMed:24660806, PubMed:24751536). Mediates monoubiquitination as well as 'Lys-6', 'Lys-11', 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination of substrates depending on the context (PubMed:19229105, PubMed:20889974, PubMed:25621951). Participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating 'Lys-63'-linked polyubiquitination of misfolded proteins such as PARK7: 'Lys-63'-linked polyubiquitinated misfolded proteins are then recognized by HDAC6, leading to their recruitment to aggresomes, followed by degradation (PubMed:17846173, PubMed:19229105). Mediates 'Lys-63'-linked polyubiquitination of a 22 kDa O-linked glycosylated isoform of SNCAIP, possibly playing a role in Lewy-body formation (PubMed:11590439, PubMed:11431533, PubMed:19229105, PubMed:11590439, PubMed:15728840). Mediates monoubiquitination of BCL2, thereby acting as a positive regulator of autophagy (PubMed:20889974). Promotes the autophagic degradation of dysfunctional depolarized mitochondria (mitophagy) by promoting the ubiquitination of mitochondrial proteins such as TOMM20, RHOT1/MIRO1 and USP30 (PubMed:19029340, PubMed:19966284, PubMed:23620051, PubMed:24896179, PubMed:25527291). Preferentially assembles 'Lys-6'-, 'Lys-11'- and 'Lys-63'-linked polyubiquitin chains following mitochondrial damage, leading to mitophagy (PubMed:25621951). Mediates 'Lys-48'-linked polyubiquitination of ZNF746, followed by degradation of ZNF746 by the proteasome; possibly playing a role in the regulation of neuron death (PubMed:21376232). Limits the production of reactive oxygen species (ROS). Regulates cyclin-E during neuronal apoptosis. In collaboration with CHPF isoform 2, may enhance cell viability and protect cells from oxidative stress (PubMed:22082830). Independently of its ubiquitin ligase activity, protects from apoptosis by the transcriptional repression of p53/TP53 (PubMed:19801972). May protect neurons against alpha synuclein toxicity, proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity (PubMed:11439185). May play a role in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent exocytosis. May represent a tumor suppressor gene.

Gene Wiki entry for PRKN Gene

Additional gene information for PRKN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRKN Gene

Genomics for PRKN Gene

GeneHancer (GH) Regulatory Elements for PRKN Gene

Promoters and enhancers for PRKN Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06J162726 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 0.0 -13 2.4 ZBTB40 SIX5 FOXA1 RBPJ ATF1 CREB1 HCFC1 ELF1 HLF L3MBTL2 PACRG PRKN piR-57133-533
GH06J162705 Enhancer 0.4 ENCODE 12.1 +21.4 21438 1.2 ZIC2 POLR2A YY1 NR2F2 PACRG PRKN RF00017-5930 piR-58929-099
GH06J162363 Enhancer 0.9 Ensembl ENCODE 4.5 +363.4 363413 1.2 HLF L3MBTL2 TEAD4 ZNF148 ZFX CBFA2T2 BACH1 ZNF639 CAVIN1 ZNF740 PACRG PRKN RF00994-972 piR-41399-422
GH06J162442 Enhancer 0.6 Ensembl ENCODE 5.5 +285.1 285101 1.8 CTCF RAD21 RFX1 PRKN LOC105369171 KRT8P44
GH06J162409 Enhancer 0.5 Ensembl ENCODE CraniofacialAtlas 4.9 +317.9 317901 5 PRKN PACRG LOC105369171 RF00994-972
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRKN on UCSC Golden Path with GeneCards custom track

Genomic Locations for PRKN Gene

Genomic Locations for PRKN Gene
chr6:161,347,417-162,727,802
(GRCh38/hg38)
Size:
1,380,386 bases
Orientation:
Minus strand
chr6:161,768,452-163,148,834
(GRCh37/hg19)
Size:
1,380,383 bases
Orientation:
Minus strand

Genomic View for PRKN Gene

Genes around PRKN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRKN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRKN Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PRKN Gene

Proteins for PRKN Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PRKN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60260-PRKN_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase parkin
    Protein Accession:
    O60260
    Secondary Accessions:
    • A3FG77
    • A8K975
    • D3JZW7
    • D3K2X0
    • Q5TFV8
    • Q5VVX4
    • Q6Q2I6
    • Q8NI41
    • Q8NI43
    • Q8NI44
    • Q8WW07

    Protein attributes for PRKN Gene

    Size:
    465 amino acids
    Molecular mass:
    51641 Da
    Quaternary structure:
    • Forms an E3 ubiquitin ligase complex with UBE2L3 or UBE2L6. Mediates 'Lys-63'-linked polyubiquitination by associating with UBE2V1. Part of a SCF-like complex, consisting of PRKN, CUL1 and FBXW7. Interacts with SNCAIP. Binds to the C2A and C2B domains of SYT11. Interacts and regulates the turnover of SEPTIN5. Part of a complex, including STUB1, HSP70 and GPR37. The amount of STUB1 in the complex increases during ER stress. STUB1 promotes the dissociation of HSP70 from PRKN and GPR37, thus facilitating PRKN-mediated GPR37 ubiquitination. HSP70 transiently associates with unfolded GPR37 and inhibits the E3 activity of PRKN, whereas, STUB1 enhances the E3 activity of PRKN through promotion of dissociation of HSP70 from PRKN-GPR37 complexes. Interacts with PSMD4 and PACRG. Interacts with LRRK2. Interacts with RANBP2. Interacts with SUMO1 but not SUMO2, which promotes nuclear localization and autoubiquitination. Interacts (via first RING-type domain) with AIMP2 (via N-terminus). Interacts with PSMA7 and RNF41. Interacts with PINK1. Interacts with CHPF, the interaction with isoform 2 may facilitate PRKN transport into the mitochondria. Interacts with MFN2 (phosphorylated), promotes PRKN localization in dysfunctional depolarized mitochondria. Interacts with FBXO7; this promotes translocation to dysfunctional depolarized mitochondria. Interacts with heat shock protein 70 family members, including HSPA1L, HSPA1A and HSPA8; interaction HSPA1L promotes translocation to damaged mitochondria. Interacts with BAG4 and, to a lesser extent, BAG5; interaction with BAG4 inhibits translocation to damaged mitochondria. Forms a complex with PINK1 and PARK7 (PubMed:19229105).
    Miscellaneous:
    • The parkin locus (PRKN), adjacent to the 6q telomere is hyper-recombinable and lies within FRA6E, the third most common fragile site in tumor tissue.

    Three dimensional structures from OCA and Proteopedia for PRKN Gene

    Alternative splice isoforms for PRKN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKN Gene

Post-translational modifications for PRKN Gene

  • Auto-ubiquitinates in an E2-dependent manner leading to its own degradation (PubMed:19229105). Also polyubiquitinated by RNF41 for proteasomal degradation.
  • S-nitrosylated. The inhibition of PRKN ubiquitin E3 ligase activity by S-nitrosylation could contribute to the degenerative process in PD by impairing the ubiquitination of PRKN substrates.
  • Phosphorylation at Ser-65 by PINK1 contributes to activate PRKN activity. It is however not sufficient and requires binding to phosphorylated ubiquitin as well.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRKN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRKN Gene

Domains & Families for PRKN Gene

Gene Families for PRKN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PRKN Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRKN Gene

GenScript: Design optimal peptide antigens:
  • Truncated parkin variant SV4DEL (D3JZW5_HUMAN)
  • Parkin variant SV9DEL (D3JZW7_HUMAN)
  • Parkin variant SV5,9DEL (D3K2X0_HUMAN)
  • Truncated parkin variant SV3,8,9DEL (D3K2X1_HUMAN)
  • Truncated parkin variant SV1bINS (D3K2X2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60260

UniProtKB/Swiss-Prot:

PRKN_HUMAN :
  • The ubiquitin-like domain binds the PSMD4 subunit of 26S proteasomes.
  • Belongs to the RBR family. Parkin subfamily.
Domain:
  • The ubiquitin-like domain binds the PSMD4 subunit of 26S proteasomes.
  • The RING-type 1 zinc finger domain is required to repress p53/TP53 transcription.
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain (PubMed:21532592).
Family:
  • Belongs to the RBR family. Parkin subfamily.
genes like me logo Genes that share domains with PRKN: view

Function for PRKN Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PRKN Gene

UniProtKB/Swiss-Prot Function:
Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins, such as BCL2, SYT11, CCNE1, GPR37, RHOT1/MIRO1, MFN1, MFN2, STUB1, SNCAIP, SEPTIN5, TOMM20, USP30, ZNF746 and AIMP2 (PubMed:10973942, PubMed:10888878, PubMed:11431533, PubMed:12150907, PubMed:12628165, PubMed:16135753, PubMed:21376232, PubMed:23754282, PubMed:23620051, PubMed:24660806, PubMed:24751536). Mediates monoubiquitination as well as 'Lys-6', 'Lys-11', 'Lys-48'-linked and 'Lys-63'-linked polyubiquitination of substrates depending on the context (PubMed:19229105, PubMed:20889974, PubMed:25621951). Participates in the removal and/or detoxification of abnormally folded or damaged protein by mediating 'Lys-63'-linked polyubiquitination of misfolded proteins such as PARK7: 'Lys-63'-linked polyubiquitinated misfolded proteins are then recognized by HDAC6, leading to their recruitment to aggresomes, followed by degradation (PubMed:17846173, PubMed:19229105). Mediates 'Lys-63'-linked polyubiquitination of a 22 kDa O-linked glycosylated isoform of SNCAIP, possibly playing a role in Lewy-body formation (PubMed:11590439, PubMed:11431533, PubMed:19229105, PubMed:11590439, PubMed:15728840). Mediates monoubiquitination of BCL2, thereby acting as a positive regulator of autophagy (PubMed:20889974). Promotes the autophagic degradation of dysfunctional depolarized mitochondria (mitophagy) by promoting the ubiquitination of mitochondrial proteins such as TOMM20, RHOT1/MIRO1 and USP30 (PubMed:19029340, PubMed:19966284, PubMed:23620051, PubMed:24896179, PubMed:25527291). Preferentially assembles 'Lys-6'-, 'Lys-11'- and 'Lys-63'-linked polyubiquitin chains following mitochondrial damage, leading to mitophagy (PubMed:25621951). Mediates 'Lys-48'-linked polyubiquitination of ZNF746, followed by degradation of ZNF746 by the proteasome; possibly playing a role in the regulation of neuron death (PubMed:21376232). Limits the production of reactive oxygen species (ROS). Regulates cyclin-E during neuronal apoptosis. In collaboration with CHPF isoform 2, may enhance cell viability and protect cells from oxidative stress (PubMed:22082830). Independently of its ubiquitin ligase activity, protects from apoptosis by the transcriptional repression of p53/TP53 (PubMed:19801972). May protect neurons against alpha synuclein toxicity, proteasomal dysfunction, GPR37 accumulation, and kainate-induced excitotoxicity (PubMed:11439185). May play a role in controlling neurotransmitter trafficking at the presynaptic terminal and in calcium-dependent exocytosis. May represent a tumor suppressor gene.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-N(6)-ubiquitinyl-L-lysine.; EC=2.3.2.31; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
In the autoinhibited state the side chain of Phe-463 inserts into a hydrophobic groove in RING-0, occluding the ubiquitin acceptor site Cys-431, whereas the REP repressor element binds RING-1 and blocks its E2-binding site (PubMed:23727886, PubMed:23770887). Activation of PRKN requires 2 steps: (1) phosphorylation at Ser-65 by PINK1 and (2) binding to phosphorylated ubiquitin, leading to unlock repression of the catalytic Cys-431 by the RING-0 region via an allosteric mechanism and converting PRKN to its fully-active form (PubMed:24660806, PubMed:24784582, PubMed:25527291). According to another report, phosphorylation at Ser-65 by PINK1 is not essential for activation and only binding to phosphorylated ubiquitin is essential to unlock repression (PubMed:24751536).

Enzyme Numbers (IUBMB) for PRKN Gene

Phenotypes From GWAS Catalog for PRKN Gene

Gene Ontology (GO) - Molecular Function for PRKN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 23985028
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 23985028
GO:0001664 G protein-coupled receptor binding IPI 12150907
GO:0003779 actin binding IPI 21753002
GO:0004842 ubiquitin-protein transferase activity IEA,TAS --
genes like me logo Genes that share ontologies with PRKN: view
genes like me logo Genes that share phenotypes with PRKN: view

Human Phenotype Ontology for PRKN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRKN Gene

MGI Knock Outs for PRKN:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for PRKN

No data available for Transcription Factor Targets and HOMER Transcription for PRKN Gene

Localization for PRKN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRKN Gene

Cytoplasm, cytosol. Nucleus. Endoplasmic reticulum. Mitochondrion. Note=Mainly localizes in the cytosol. Co-localizes with SYT11 in neutrites. Co-localizes with SNCAIP in brainstem Lewy bodies. Mitochondrial localization gradually increases with cellular growth. Also relocates to dysfunctional mitochondria that have lost the mitochondrial membrane potential; recruitment to mitochondria is PINK1-dependent.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRKN gene
Compartment Confidence
mitochondrion 5
cytosol 5
golgi apparatus 5
nucleus 4
endoplasmic reticulum 4
lysosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear speckles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRKN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IDA 12150907
GO:0005634 nucleus IDA 23985028
GO:0005737 cytoplasm IDA,IBA 17512523
GO:0005739 colocalizes_with mitochondrion IEA,IMP 21508222
GO:0005783 endoplasmic reticulum IDA 12150907
genes like me logo Genes that share ontologies with PRKN: view

Pathways & Interactions for PRKN Gene

genes like me logo Genes that share pathways with PRKN: view

UniProtKB/Swiss-Prot O60260-PRKN_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for PRKN Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PRKN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 23985028
GO:0000209 protein polyubiquitination IBA,IDA 12150907
GO:0000266 mitochondrial fission ISS --
GO:0000422 autophagy of mitochondrion IMP 19029340
GO:0000423 mitophagy IEA --
genes like me logo Genes that share ontologies with PRKN: view

Drugs & Compounds for PRKN Gene

Products:

  1. Drug

(32) Drugs for PRKN Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773

(24) Additional Compounds for PRKN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PRKN: view

Transcripts for PRKN Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PRKN Gene

(3) REFSEQ mRNAs :
(31) Additional mRNA sequences :
(5) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for PRKN

Alternative Splicing Database (ASD) splice patterns (SP) for PRKN Gene

No ASD Table

Relevant External Links for PRKN Gene

GeneLoc Exon Structure for
PRKN
ECgene alternative splicing isoforms for
PRKN

Expression for PRKN Gene

Products:

  1. Primer

NURSA nuclear receptor signaling pathways regulating expression of PRKN Gene:

PRKN

mRNA Expression by UniProt/SwissProt for PRKN Gene:

O60260-PRKN_HUMAN
Tissue specificity: Highly expressed in the brain including the substantia nigra. Expressed in heart, testis and skeletal muscle. Expression is down-regulated or absent in tumor biopsies, and absent in the brain of PARK2 patients. Overexpression protects dopamine neurons from kainate-mediated apoptosis. Found in serum (at protein level).

Evidence on tissue expression from TISSUES for PRKN Gene

  • Nervous system(4.8)
  • Muscle(4.4)
  • Eye(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRKN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • eye
  • eyelid
  • face
  • head
Thorax:
  • breast
  • lung
Pelvis:
  • ovary
  • testicle
  • urethra
  • urinary bladder
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for PRKN Gene

Orthologs for PRKN Gene

This gene was present in the common ancestor of animals.

Orthologs for PRKN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PARK2 33 32
  • 99.64 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia PARK2 33
  • 89 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia PARK2 33 32
  • 85.42 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia PARK2 33 32
  • 85.38 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Park2 32
  • 84.44 (n)
mouse
(Mus musculus)
 Mammalia Park2 33 33 32
  • 83.41 (n)
 OneToMany
Prkn 17
oppossum
(Monodelphis domestica)
 Mammalia PARK2 33
  • 60 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves PARK2 33 32
  • 72.78 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PARK2 33
  • 80 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii park2 33 32
  • 64.25 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP006580 32
  • 54.16 (n)
fruit fly
(Drosophila melanogaster)
 Insecta park 33 32
  • 53.82 (n)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea pdr-1 33 32
  • 46.03 (n)
 OneToOne
Species where no ortholog for PRKN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PRKN Gene

ENSEMBL:
Gene Tree for PRKN (if available)
TreeFam:
Gene Tree for PRKN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRKN: view image

Paralogs for PRKN Gene

Paralogs for PRKN Gene

genes like me logo Genes that share paralogs with PRKN: view

Variants for PRKN Gene

Sequence variations from dbSNP and Humsavar for PRKN Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1060502319 uncertain-significance, Parkinson disease 2 162,201,222(-) A/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1122470 likely-benign, Parkinson Disease, Juvenile 161,348,078(-) C/G/T 3_prime_UTR_variant, non_coding_transcript_variant
rs112850281 uncertain-significance, Parkinson Disease, Juvenile 162,727,710(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant
rs117341007 likely-benign, Parkinson Disease, Juvenile 161,347,607(-) T/C 3_prime_UTR_variant, non_coding_transcript_variant
rs11961229 uncertain-significance, Parkinson Disease, Juvenile 161,348,637(-) G/T 3_prime_UTR_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PRKN Gene

Variant ID Type Subtype PubMed ID
dgv1031e201 CNV deletion 23290073
dgv11003n54 CNV loss 21841781
dgv11004n54 CNV loss 21841781
dgv11005n54 CNV loss 21841781
dgv11006n54 CNV loss 21841781
dgv11007n54 CNV loss 21841781
dgv11008n54 CNV loss 21841781
dgv11009n54 CNV loss 21841781
dgv11010n54 CNV loss 21841781
dgv11011n54 CNV loss 21841781
dgv11012n54 CNV loss 21841781
dgv11013n54 CNV loss 21841781
dgv11014n54 CNV gain 21841781
dgv11015n54 CNV gain 21841781
dgv11016n54 CNV loss 21841781
dgv11017n54 CNV loss 21841781
dgv11018n54 CNV loss 21841781
dgv11019n54 CNV loss 21841781
dgv11020n54 CNV loss 21841781
dgv11021n54 CNV loss 21841781
dgv1167e199 CNV deletion 23128226
dgv1168e199 CNV deletion 23128226
dgv1232e214 CNV loss 21293372
dgv1233e214 CNV loss 21293372
dgv1234e214 CNV loss 21293372
dgv1235e214 CNV loss 21293372
dgv1236e214 CNV loss 21293372
dgv1237e214 CNV loss 21293372
dgv1846e212 CNV loss 25503493
dgv1847e212 CNV loss 25503493
dgv1848e212 CNV loss 25503493
dgv231n111 CNV deletion 26073780
dgv26e196 CNV duplication 17116639
dgv3428n106 CNV tandem duplication 24896259
dgv3429n106 CNV deletion 24896259
dgv3430n106 CNV deletion 24896259
dgv3431n106 CNV deletion 24896259
dgv408e215 CNV deletion 23714750
dgv409e215 CNV deletion 23714750
dgv6168n100 CNV loss 25217958
dgv6169n100 CNV loss 25217958
dgv6170n100 CNV gain 25217958
dgv6171n100 CNV gain 25217958
dgv6172n100 CNV loss 25217958
dgv6173n100 CNV loss 25217958
dgv6174n100 CNV loss 25217958
dgv6175n100 CNV loss 25217958
dgv6176n100 CNV gain 25217958
dgv6177n100 CNV loss 25217958
dgv6178n100 CNV gain 25217958
dgv6179n100 CNV gain 25217958
dgv6180n100 CNV loss 25217958
dgv6181n100 CNV gain 25217958
dgv6182n100 CNV gain 25217958
dgv6183n100 CNV loss 25217958
dgv6184n100 CNV loss 25217958
dgv6185n100 CNV loss 25217958
dgv6186n100 CNV loss 25217958
dgv6187n100 CNV gain 25217958
dgv6188n100 CNV loss 25217958
dgv6189n100 CNV loss 25217958
dgv6190n100 CNV loss 25217958
dgv6191n100 CNV loss 25217958
dgv6192n100 CNV loss 25217958
dgv6193n100 CNV loss 25217958
dgv785n27 CNV gain 19166990
dgv786n27 CNV gain 19166990
dgv787n27 CNV loss 19166990
esv1371818 CNV insertion 17803354
esv1543709 CNV insertion 17803354
esv1926719 CNV deletion 18987734
esv1995879 CNV deletion 18987734
esv2008419 CNV deletion 18987734
esv2152165 CNV deletion 18987734
esv2246800 CNV deletion 18987734
esv2267267 CNV deletion 18987734
esv23614 CNV loss 19812545
esv23877 CNV loss 19812545
esv2421399 CNV deletion 20811451
esv2421772 CNV deletion 20811451
esv2422275 CNV duplication 17116639
esv2492646 CNV insertion 19546169
esv25032 CNV loss 19812545
esv25242 CNV loss 19812545
esv25373 CNV loss 19812545
esv2567515 CNV deletion 19546169
esv2624127 CNV insertion 19546169
esv2656549 CNV deletion 23128226
esv2657384 CNV deletion 23128226
esv26577 CNV loss 19812545
esv2658433 CNV deletion 23128226
esv2660320 CNV deletion 23128226
esv2661116 CNV deletion 23128226
esv2661302 CNV deletion 23128226
esv2661823 CNV deletion 23128226
esv2661906 CNV deletion 23128226
esv2662124 CNV deletion 23128226
esv2662753 CNV deletion 23128226
esv2664415 CNV deletion 23128226
esv2666662 CNV deletion 23128226
esv2669522 CNV deletion 23128226
esv2669608 CNV deletion 23128226
esv2670282 CNV deletion 23128226
esv2670955 CNV deletion 23128226
esv2673412 CNV deletion 23128226
esv2673491 CNV deletion 23128226
esv2673918 CNV deletion 23128226
esv2675084 CNV deletion 23128226
esv2676221 CNV deletion 23128226
esv2677384 CNV deletion 23128226
esv2677861 CNV deletion 23128226
esv26831 CNV loss 19812545
esv2733078 CNV deletion 23290073
esv2733079 CNV deletion 23290073
esv2733081 CNV deletion 23290073
esv2733083 CNV deletion 23290073
esv2733085 CNV deletion 23290073
esv2733086 CNV deletion 23290073
esv2733087 CNV deletion 23290073
esv2733088 CNV deletion 23290073
esv2733089 CNV deletion 23290073
esv2733090 CNV deletion 23290073
esv2733091 CNV deletion 23290073
esv2733092 CNV deletion 23290073
esv2733093 CNV deletion 23290073
esv2733094 CNV deletion 23290073
esv2733096 CNV deletion 23290073
esv2733097 CNV deletion 23290073
esv2733098 CNV deletion 23290073
esv2733099 CNV deletion 23290073
esv2733100 CNV deletion 23290073
esv2733101 CNV deletion 23290073
esv2733102 CNV deletion 23290073
esv2733103 CNV deletion 23290073
esv2733104 CNV deletion 23290073
esv2733105 CNV deletion 23290073
esv2752091 CNV gain 17911159
esv2752092 CNV loss 17911159
esv2752093 CNV gain 17911159
esv2752094 CNV gain 17911159
esv2752095 CNV gain 17911159
esv2752096 CNV gain 17911159
esv2752097 CNV loss 17911159
esv2752098 CNV gain 17911159
esv2759485 CNV gain 17122850
esv2759486 CNV gain 17122850
esv2759487 CNV loss 17122850
esv2759488 CNV loss 17122850
esv2759489 CNV gain 17122850
esv2761001 CNV loss 21179565
esv2761040 CNV loss 21179565
esv2761064 CNV loss 21179565
esv2762625 CNV loss 21179565
esv2762626 CNV loss 21179565
esv2763606 CNV loss 21179565
esv2763607 CNV loss 21179565
esv2763960 CNV gain+loss 21179565
esv29030 CNV loss 19812545
esv3307527 CNV mobile element insertion 20981092
esv3308142 CNV mobile element insertion 20981092
esv3332029 CNV insertion 20981092
esv3342279 CNV insertion 20981092
esv3350101 CNV insertion 20981092
esv3369603 CNV insertion 20981092
esv3428886 CNV insertion 20981092
esv3435613 CNV insertion 20981092
esv35102 CNV gain 17911159
esv3540795 CNV deletion 23714750
esv3540797 CNV deletion 23714750
esv3540805 CNV deletion 23714750
esv3540806 CNV deletion 23714750
esv3540810 CNV deletion 23714750
esv3540811 CNV deletion 23714750
esv3571500 CNV loss 25503493
esv3571503 CNV loss 25503493
esv3571504 CNV loss 25503493
esv3571505 CNV loss 25503493
esv3571506 CNV loss 25503493
esv3571507 CNV loss 25503493
esv3571508 CNV loss 25503493
esv3571512 CNV loss 25503493
esv3571513 CNV loss 25503493
esv3571514 CNV loss 25503493
esv3571515 CNV loss 25503493
esv3576243 CNV gain 25503493
esv3576244 CNV gain 25503493
esv3576245 CNV gain 25503493
esv3576246 CNV gain 25503493
esv3576247 CNV gain 25503493
esv3611460 CNV loss 21293372
esv3611461 CNV loss 21293372
esv3611462 CNV loss 21293372
esv3611464 CNV gain 21293372
esv3611465 CNV gain 21293372
esv3611466 CNV gain 21293372
esv3611467 CNV gain 21293372
esv3611469 CNV gain 21293372
esv3611470 CNV gain 21293372
esv3611473 CNV loss 21293372
esv3611474 CNV gain 21293372
esv3611476 CNV gain 21293372
esv3611478 CNV gain 21293372
esv3611480 CNV loss 21293372
esv3611483 CNV loss 21293372
esv3611484 CNV loss 21293372
esv3611485 CNV loss 21293372
esv3611486 CNV loss 21293372
esv3611487 CNV gain 21293372
esv3611488 CNV loss 21293372
esv3611489 CNV loss 21293372
esv3611490 CNV loss 21293372
esv3611492 CNV loss 21293372
esv3611493 CNV loss 21293372
esv3611494 CNV loss 21293372
esv3611495 CNV loss 21293372
esv3611499 CNV loss 21293372
esv3611500 CNV gain 21293372
esv3611501 CNV loss 21293372
esv3611502 CNV loss 21293372
esv3611503 CNV gain 21293372
esv3611505 CNV loss 21293372
esv3611506 CNV gain 21293372
esv3611509 CNV gain 21293372
esv3611511 CNV loss 21293372
esv3611512 CNV loss 21293372
esv3611513 CNV loss 21293372
esv3611514 CNV loss 21293372
esv3611515 CNV loss 21293372
esv3611516 CNV gain 21293372
esv3611517 CNV loss 21293372
esv3611518 CNV loss 21293372
esv3611519 CNV loss 21293372
esv3611520 CNV loss 21293372
esv3611521 CNV loss 21293372
esv3611522 CNV loss 21293372
esv3611523 CNV gain 21293372
esv3611527 CNV gain 21293372
esv3611528 CNV loss 21293372
esv3611529 CNV loss 21293372
esv3611530 CNV loss 21293372
esv3611531 CNV gain 21293372
esv3611532 CNV loss 21293372
esv3611533 CNV loss 21293372
esv3611534 CNV gain 21293372
esv3611537 CNV gain 21293372
esv3611540 CNV loss 21293372
esv3611541 CNV gain 21293372
esv3611542 CNV loss 21293372
esv3611543 CNV gain 21293372
esv3611544 CNV loss 21293372
esv3611545 CNV gain 21293372
esv3611546 CNV loss 21293372
esv3611547 CNV loss 21293372
esv3611548 CNV loss 21293372
esv3611549 CNV gain 21293372
esv3611550 CNV loss 21293372
esv3611551 CNV loss 21293372
esv3611552 CNV loss 21293372
esv3611553 CNV gain 21293372
esv3611555 CNV loss 21293372
esv3611556 CNV loss 21293372
esv3611557 CNV gain 21293372
esv3611559 CNV gain 21293372
esv3611561 CNV loss 21293372
esv3611562 CNV gain 21293372
esv3611563 CNV loss 21293372
esv3890977 CNV gain 25118596
esv3890978 CNV loss 25118596
esv3890979 CNV loss 25118596
esv3890980 CNV loss 25118596
esv3890981 CNV loss 25118596
esv3890983 CNV gain+loss 25118596
esv3890984 CNV gain+loss 25118596
esv3890985 CNV loss 25118596
esv3890986 CNV loss 25118596
esv3890987 CNV loss 25118596
esv3890988 CNV loss 25118596
esv3890989 CNV loss 25118596
esv3890990 CNV loss 25118596
esv3890991 CNV loss 25118596
esv5727 CNV gain 19470904
esv989831 CNV insertion 20482838
nsv1015211 CNV loss 25217958
nsv1015507 CNV gain 25217958
nsv1015609 CNV gain 25217958
nsv1016352 CNV loss 25217958
nsv1016737 CNV gain 25217958
nsv1017790 CNV loss 25217958
nsv1018409 CNV loss 25217958
nsv1018573 CNV loss 25217958
nsv1019615 CNV loss 25217958
nsv1019691 CNV loss 25217958
nsv1019976 CNV gain 25217958
nsv1020804 CNV loss 25217958
nsv1021177 CNV loss 25217958
nsv1021293 CNV loss 25217958
nsv1021432 CNV gain 25217958
nsv1021481 CNV gain 25217958
nsv1021622 CNV gain 25217958
nsv1021669 CNV gain 25217958
nsv1023004 CNV loss 25217958
nsv1023654 CNV loss 25217958
nsv1023664 CNV loss 25217958
nsv1024545 CNV gain 25217958
nsv1024721 CNV loss 25217958
nsv1026147 CNV loss 25217958
nsv1026490 CNV gain 25217958
nsv1026543 CNV gain 25217958
nsv1026860 CNV loss 25217958
nsv1027860 CNV loss 25217958
nsv1028824 CNV loss 25217958
nsv1028918 CNV loss 25217958
nsv1029469 CNV loss 25217958
nsv1029592 CNV loss 25217958
nsv1029727 CNV gain 25217958
nsv1029749 CNV loss 25217958
nsv1030362 CNV gain 25217958
nsv1030712 CNV loss 25217958
nsv1031234 CNV gain 25217958
nsv1031462 CNV loss 25217958
nsv1031665 CNV loss 25217958
nsv1032437 CNV loss 25217958
nsv1033603 CNV loss 25217958
nsv1033934 CNV gain 25217958
nsv1034482 CNV gain 25217958
nsv1034814 CNV loss 25217958
nsv1034889 CNV loss 25217958
nsv1073606 CNV deletion 25765185
nsv1073607 CNV deletion 25765185
nsv1073608 CNV deletion 25765185
nsv1073609 CNV deletion 25765185
nsv1074032 CNV deletion 25765185
nsv1074974 CNV deletion 25765185
nsv1077482 CNV duplication 25765185
nsv1114890 CNV deletion 24896259
nsv1114891 CNV deletion 24896259
nsv1114892 CNV deletion 24896259
nsv1114893 CNV deletion 24896259
nsv1117681 CNV deletion 24896259
nsv1119544 CNV insertion 24896259
nsv1120535 CNV tandem duplication 24896259
nsv1125897 CNV tandem duplication 24896259
nsv1126759 CNV deletion 24896259
nsv1128287 CNV deletion 24896259
nsv1128929 CNV duplication 24896259
nsv1142477 CNV tandem duplication 24896259
nsv1149107 CNV deletion 26484159
nsv1152667 CNV duplication 26484159
nsv1161465 CNV deletion 26073780
nsv349169 CNV deletion 16902084
nsv349534 CNV deletion 16902084
nsv349740 CNV deletion 16902084
nsv437015 CNV loss 16327808
nsv437529 CNV loss 16327808
nsv442018 CNV loss 18776908
nsv442019 CNV loss 18776908
nsv464088 CNV gain 19166990
nsv464089 CNV loss 19166990
nsv464090 CNV loss 19166990
nsv464091 CNV loss 19166990
nsv464093 CNV gain 19166990
nsv464094 CNV gain 19166990
nsv464097 CNV loss 19166990
nsv464111 CNV loss 19166990
nsv464112 CNV loss 19166990
nsv464115 CNV loss 19166990
nsv464118 CNV loss 19166990
nsv464119 CNV loss 19166990
nsv464120 CNV loss 19166990
nsv464124 CNV loss 19166990
nsv470868 CNV loss 18288195
nsv470869 CNV gain 18288195
nsv470870 CNV loss 18288195
nsv472799 CNV novel sequence insertion 20440878
nsv509164 CNV insertion 20534489
nsv510060 OTHER sequence alteration 20534489
nsv511352 CNV loss 21212237
nsv511921 CNV loss 21212237
nsv511922 CNV loss 21212237
nsv514397 CNV loss 21397061
nsv516155 CNV loss 19592680
nsv517562 CNV gain+loss 19592680
nsv518931 CNV gain 19592680
nsv519391 CNV loss 19592680
nsv520078 CNV loss 19592680
nsv523485 CNV loss 19592680
nsv526031 CNV gain 19592680
nsv526090 CNV loss 19592680
nsv526823 CNV loss 19592680
nsv527260 CNV loss 19592680
nsv5577 CNV deletion 18451855
nsv5578 CNV insertion 18451855
nsv5579 CNV insertion 18451855
nsv5580 CNV deletion 18451855
nsv605069 CNV gain 21841781
nsv605070 CNV loss 21841781
nsv605071 CNV loss 21841781
nsv605072 CNV loss 21841781
nsv605073 CNV gain 21841781
nsv605074 CNV gain 21841781
nsv605075 CNV loss 21841781
nsv605076 CNV loss 21841781
nsv605078 CNV loss 21841781
nsv605080 CNV gain 21841781
nsv605081 CNV loss 21841781
nsv605101 CNV loss 21841781
nsv605111 CNV loss 21841781
nsv605112 CNV gain 21841781
nsv605114 CNV loss 21841781
nsv605116 CNV loss 21841781
nsv605119 CNV gain 21841781
nsv605121 CNV loss 21841781
nsv605123 CNV loss 21841781
nsv605147 CNV loss 21841781
nsv605152 CNV loss 21841781
nsv605155 CNV gain 21841781
nsv605157 CNV loss 21841781
nsv605159 CNV loss 21841781
nsv605160 CNV loss 21841781
nsv605161 CNV loss 21841781
nsv605162 CNV loss 21841781
nsv605163 CNV gain 21841781
nsv605164 CNV loss 21841781
nsv605165 CNV loss 21841781
nsv605166 CNV gain 21841781
nsv605167 CNV gain 21841781
nsv605168 CNV loss 21841781
nsv605169 CNV loss 21841781
nsv605171 CNV loss 21841781
nsv605176 CNV loss 21841781
nsv605177 CNV loss 21841781
nsv605178 CNV loss 21841781
nsv605179 CNV loss 21841781
nsv605180 CNV loss 21841781
nsv7988 CNV loss 18304495
nsv7989 CNV loss 18304495
nsv7990 CNV loss 18304495
nsv7993 CNV loss 18304495
nsv7994 CNV loss 18304495
nsv7995 CNV loss 18304495
nsv818464 CNV loss 17921354
nsv818465 CNV loss 17921354
nsv818466 CNV loss 17921354
nsv819266 CNV loss 19587683
nsv823911 CNV loss 20364138
nsv823912 CNV loss 20364138
nsv823913 CNV loss 20364138
nsv823914 CNV loss 20364138
nsv830854 CNV gain 17160897
nsv830855 CNV loss 17160897
nsv830856 CNV gain 17160897
nsv830857 CNV loss 17160897
nsv949884 CNV deletion 24416366
nsv958348 CNV deletion 24416366
nsv958378 CNV deletion 24416366
nsv970190 CNV duplication 23825009

Variation tolerance for PRKN Gene

Residual Variation Intolerance Score: 93.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.08; 84.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRKN Gene

Human Gene Mutation Database (HGMD)
PRKN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRKN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKN Gene

Disorders for PRKN Gene

MalaCards: The human disease database

(28) MalaCards diseases for PRKN Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 2, autosomal recessive juvenile
  • park2
leprosy 2
  • leprosy, susceptibility to, 2
ovarian cancer
  • ovarian cancer, somatic
lung cancer
  • adenocarcinoma of lung
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards
Search PRKN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRKN_HUMAN
  • Parkinson disease (PARK) [MIM:168600]: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability. Additional features are characteristic postural abnormalities, dysautonomia, dystonic cramps, and dementia. The pathology of Parkinson disease involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. The disease is progressive and usually manifests after the age of 50 years, although early-onset cases (before 50 years) are known. The majority of the cases are sporadic suggesting a multifactorial etiology based on environmental and genetic factors. However, some patients present with a positive family history for the disease. Familial forms of the disease usually begin at earlier ages and are associated with atypical clinical features. {ECO:0000269 PubMed:12629236, ECO:0000269 PubMed:12730996, ECO:0000269 PubMed:19966284}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. Heterozygous mutations act as susceptibility alleles for late-onset Parkinson disease (PubMed:12730996 and PubMed:12629236).
  • Parkinson disease 2 (PARK2) [MIM:600116]: 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. {ECO:0000269 PubMed:10072423, ECO:0000269 PubMed:10824074, ECO:0000269 PubMed:10888878, ECO:0000269 PubMed:10939576, ECO:0000269 PubMed:11163284, ECO:0000269 PubMed:11179010, ECO:0000269 PubMed:11431533, ECO:0000269 PubMed:11487568, ECO:0000269 PubMed:11590439, ECO:0000269 PubMed:11971093, ECO:0000269 PubMed:12056932, ECO:0000269 PubMed:12112109, ECO:0000269 PubMed:12114481, ECO:0000269 PubMed:12116199, ECO:0000269 PubMed:12362318, ECO:0000269 PubMed:12397156, ECO:0000269 PubMed:12629236, ECO:0000269 PubMed:12730996, ECO:0000269 PubMed:12925569, ECO:0000269 PubMed:15584030, ECO:0000269 PubMed:17360614, ECO:0000269 PubMed:19229105, ECO:0000269 PubMed:19801972, ECO:0000269 PubMed:20404107, ECO:0000269 PubMed:20889486, ECO:0000269 PubMed:20889974, ECO:0000269 PubMed:21376232, ECO:0000269 PubMed:22956510, ECO:0000269 PubMed:9560156, ECO:0000269 PubMed:9731209}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in PRKN may be involved in the development and/or progression of ovarian cancer.

Additional Disease Information for PRKN

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PRKN: view

No data available for Genatlas for PRKN Gene

Publications for PRKN Gene

  1. PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. (PMID: 19966284) Vives-Bauza C … Przedborski S (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4 23 56
  2. PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. (PMID: 20404107) Matsuda N … Tanaka K (The Journal of cell biology 2010) 3 4 23 56
  3. Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. (PMID: 19229105) Xiong H … Zhang Z (The Journal of clinical investigation 2009) 3 4 23 56
  4. Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease. (PMID: 19801972) da Costa CA … Checler F (Nature cell biology 2009) 3 4 23 56
  5. Functional modulation of parkin through physical interaction with SUMO-1. (PMID: 16955485) Um JW … Chung KC (Journal of neuroscience research 2006) 3 4 23 56

ExternalLinks

View latest publications for PRKN gene in Mastermind

Products for PRKN Gene