Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5071
Gene name	Parkin RBR E3 ubiquitin protein ligase
Gene symbol	PRKN
Synonyms (NCBI Gene)	AR-JPLPRS2PARK2PDJ
Chromosome	6
Chromosome location	6q26
Summary	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 caus

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SNP ID	Visualize variation	Clinical significance	Consequence
rs34424986	G>A,T	Pathogenic	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs55774500	G>A,T	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs55777503	CT>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs55830907	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs137853054	G>A,C,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs137853055	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137853056	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137853057	T>A	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs137853058	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs137853060	T>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs138920699	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs147757966	C>A,G,T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs149953814	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs191486604	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs368134308	C>A,G,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs377554392	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs397514694	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs746646126	->AC	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs747427602	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs747624684	->GTG	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, inframe insertion
rs751037529	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs754809877	T>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs778125254	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1562430103	C>T	Likely-pathogenic	Splice donor variant
rs1562485799	A>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs1582953433	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1583215504	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT516520	hsa-miR-483-5p	PAR-CLIP	23446348
MIRT516519	hsa-miR-4755-3p	PAR-CLIP	23446348
MIRT516518	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT516517	hsa-miR-548s	PAR-CLIP	23446348
MIRT516516	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT516515	hsa-miR-588	PAR-CLIP	23446348
MIRT516514	hsa-miR-4435	PAR-CLIP	23446348
MIRT516512	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT516513	hsa-miR-1303	PAR-CLIP	23446348
MIRT727013	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT727014	hsa-miR-19b-3p	HITS-CLIP	22473208

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Transcription factor	Regulation	Reference
SIM2	Unknown	15963499

261

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	23985028
GO:0000139	Component	Golgi membrane	IEA
GO:0000151	Component	Ubiquitin ligase complex	IBA
GO:0000151	Component	Ubiquitin ligase complex	IDA	12150907, 17314283, 23933751
GO:0000209	Process	Protein polyubiquitination	IDA	12150907, 16227987, 18541373, 19880420
GO:0000209	Process	Protein polyubiquitination	IMP	32047033
GO:0000266	Process	Mitochondrial fission	ISS
GO:0000422	Process	Autophagy of mitochondrion	IDA	25621951
GO:0000422	Process	Autophagy of mitochondrion	IMP	19029340, 23933751, 24896179
GO:0000423	Process	Mitophagy	IBA
GO:0000423	Process	Mitophagy	IDA	23685073, 28017329
GO:0000423	Process	Mitophagy	IEA
GO:0000423	Process	Mitophagy	IEA
GO:0001664	Function	G protein-coupled receptor binding	IPI	12150907
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0001964	Process	Startle response	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	23985028
GO:0003779	Function	Actin binding	IPI	21753002
GO:0004842	Function	Ubiquitin-protein transferase activity	EXP	31358971
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	11078524, 15728840, 17097639, 18541373, 20889974, 21376232, 24784582, 24896179
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS
GO:0005515	Function	Protein binding	IPI	10888878, 11078524, 11439185, 11590439, 12364339, 12628165, 12925569, 14532270, 15603737, 15728840, 16096643, 16189514, 16332688, 16352719, 17097639, 19036992, 19060904, 19146857, 19229105, 19725078, 19966284, 20153330, 20889486, 20889974, 21376232, 21753002, 22078885, 22082830, 229
GO:0005634	Component	Nucleus	IDA	23985028
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	17512523, 19591802, 21376232, 23858059, 23985028, 25244949
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	18957282, 19229105, 20889974, 23933751, 25244949
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	21508222
GO:0005739	Component	Mitochondrion	IMP	19029340
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	12150907
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	17097639
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	19029340, 19229105, 19880420, 20889974, 21753002, 23933751, 24751536
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IMP	21508222
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	12925569, 17097639
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	NAS	12628165
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	10888878
GO:0006513	Process	Protein monoubiquitination	IDA	20889974
GO:0006513	Process	Protein monoubiquitination	IMP	24660806, 32047033
GO:0006914	Process	Autophagy	IEA
GO:0006979	Process	Response to oxidative stress	ISS
GO:0006986	Process	Response to unfolded protein	IEA
GO:0007005	Process	Mitochondrion organization	ISS
GO:0007417	Process	Central nervous system development	TAS	9560156
GO:0007612	Process	Learning	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008013	Function	Beta-catenin binding	IDA	19591802
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	23626584
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008344	Process	Adult locomotory behavior	ISS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009896	Process	Positive regulation of catabolic process	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IMP	19725078
GO:0010506	Process	Regulation of autophagy	IDA	20889974
GO:0010628	Process	Positive regulation of gene expression	IMP	19725078
GO:0010629	Process	Negative regulation of gene expression	IMP	19725078, 22314364
GO:0010636	Process	Positive regulation of mitochondrial fusion	IMP	23453807
GO:0010637	Process	Negative regulation of mitochondrial fusion	ISS
GO:0010821	Process	Regulation of mitochondrion organization	IBA
GO:0010821	Process	Regulation of mitochondrion organization	IDA	21113145
GO:0010821	Process	Regulation of mitochondrion organization	IGI	19279012
GO:0010821	Process	Regulation of mitochondrion organization	NAS	20890124
GO:0010906	Process	Regulation of glucose metabolic process	TAS	23626584
GO:0010918	Process	Positive regulation of mitochondrial membrane potential	IEA
GO:0010994	Process	Free ubiquitin chain polymerization	IMP	24660806
GO:0014059	Process	Regulation of dopamine secretion	TAS	21563316
GO:0014069	Component	Postsynaptic density	IEA
GO:0014850	Process	Response to muscle activity	IEA
GO:0015631	Function	Tubulin binding	IPI	21753002
GO:0016020	Component	Membrane	IEA
GO:0016235	Component	Aggresome	IDA	14645198
GO:0016236	Process	Macroautophagy	TAS
GO:0016567	Process	Protein ubiquitination	IDA	10973942, 11439185, 12628165, 17314283
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	23933751, 26911690, 29311685
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0017124	Function	SH3 domain binding	TAS	23626584
GO:0019005	Component	SCF ubiquitin ligase complex	IDA	12628165
GO:0019899	Function	Enzyme binding	IPI	19725078
GO:0019900	Function	Kinase binding	IPI	17512523, 19229105, 19880420, 24187134
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	20798600
GO:0022603	Process	Regulation of anatomical structure morphogenesis	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030165	Function	PDZ domain binding	IPI	17512523
GO:0030424	Component	Axon	IEA
GO:0030544	Function	Hsp70 protein binding	IPI	12150907, 21753002
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031072	Function	Heat shock protein binding	IPI	12150907
GO:0031396	Process	Regulation of protein ubiquitination	IGI	23212910
GO:0031396	Process	Regulation of protein ubiquitination	IMP	20871098
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IBA
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IDA	10973942
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IPI	11439185, 12628165
GO:0031625	Function	Ubiquitin protein ligase binding	IMP	24751536
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	12150907, 21532592, 23453807
GO:0031647	Process	Regulation of protein stability	IMP	26911690
GO:0031648	Process	Protein destabilization	IDA	19591802, 29311685
GO:0031648	Process	Protein destabilization	IEA
GO:0032232	Process	Negative regulation of actin filament bundle assembly	IDA	17512523
GO:0032368	Process	Regulation of lipid transport	TAS	23626584
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	TAS	24115276
GO:0032991	Component	Protein-containing complex	IEA
GO:0033132	Process	Negative regulation of glucokinase activity	IDA	24187134
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	TAS	24252804
GO:0034620	Process	Cellular response to unfolded protein	TAS	18221368
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	21113145
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035519	Process	Protein K29-linked ubiquitination	TAS	23626584
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0036503	Process	ERAD pathway	NAS	10973942
GO:0042053	Process	Regulation of dopamine metabolic process	IMP	22314364
GO:0042415	Process	Norepinephrine metabolic process	IEA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042417	Process	Dopamine metabolic process	TAS	23626584
GO:0042802	Function	Identical protein binding	IPI	21694720
GO:0042826	Function	Histone deacetylase binding	IPI	21753002
GO:0042981	Process	Regulation of apoptotic process	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	12925569
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	17314283, 19880420
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	23453807
GO:0043130	Function	Ubiquitin binding	IDA	24784582
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	11439185, 21376232
GO:0043195	Component	Terminal bouton	IEA
GO:0043274	Function	Phospholipase binding	IPI	19725078
GO:0043524	Process	Negative regulation of neuron apoptotic process	IDA	12628165, 22511790, 23985028
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043653	Process	Mitochondrial fragmentation involved in apoptotic process	IEA
GO:0044314	Process	Protein K27-linked ubiquitination	TAS	20098416, 23626584
GO:0044828	Process	Host-mediated suppression of viral genome replication	IDA	25244949
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0044877	Function	Protein-containing complex binding	IPI	23453807
GO:0045202	Component	Synapse	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	TAS	22988876
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23453807
GO:0046329	Process	Negative regulation of JNK cascade	ISS
GO:0046676	Process	Negative regulation of insulin secretion	IDA	24187134
GO:0046872	Function	Metal ion binding	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17097639
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050821	Process	Protein stabilization	IMP	19229105
GO:0051087	Function	Protein-folding chaperone binding	IPI	15603737, 19725078, 21753002
GO:0051412	Process	Response to corticosterone	IEA
GO:0051582	Process	Positive regulation of neurotransmitter uptake	IMP	22314364
GO:0051583	Process	Dopamine uptake involved in synaptic transmission	IEA
GO:0051646	Process	Mitochondrion localization	IEA
GO:0051865	Process	Protein autoubiquitination	IDA	12628165, 15728840, 16352719, 17512523
GO:0051881	Process	Regulation of mitochondrial membrane potential	IEA
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	IEA
GO:0060544	Process	Regulation of necroptotic process	TAS
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	TAS	24115276
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	10973942, 11439185, 12150907, 12628165, 12925569, 16227987, 19229105, 19880420, 20823226, 21376232, 23685073, 23858059, 25621951
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	32047033
GO:0061630	Function	Ubiquitin protein ligase activity	NAS	10973942, 18221368
GO:0061630	Function	Ubiquitin protein ligase activity	TAS
GO:0061734	Process	Type 2 mitophagy	IDA	19029340
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070050	Process	Neuron cellular homeostasis	ISS
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	15728840, 17314283, 19880420, 25621951
GO:0070534	Process	Protein K63-linked ubiquitination	NAS	20890124
GO:0070534	Process	Protein K63-linked ubiquitination	TAS	18221368
GO:0070585	Process	Protein localization to mitochondrion	IEA
GO:0070842	Process	Aggresome assembly	IMP	14645198
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	21376232, 23858059
GO:0070979	Process	Protein K11-linked ubiquitination	IDA	25621951
GO:0071287	Process	Cellular response to manganese ion	IEA
GO:0071287	Process	Cellular response to manganese ion	TAS	23628791
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0085020	Process	Protein K6-linked ubiquitination	IDA	25621951
GO:0085020	Process	Protein K6-linked ubiquitination	TAS	23626584
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	19591802
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	TAS	22988876
GO:0090141	Process	Positive regulation of mitochondrial fission	ISS
GO:0090201	Process	Negative regulation of release of cytochrome c from mitochondria	IDA	19880420, 23453807
GO:0090258	Process	Negative regulation of mitochondrial fission	IEA
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	IEA
GO:0097237	Process	Cellular response to toxic substance	IEA
GO:0097237	Process	Cellular response to toxic substance	IMP	12628165
GO:0097413	Component	Lewy body	TAS	24522549
GO:0097602	Function	Cullin family protein binding	IDA	12628165
GO:0097708	Component	Intracellular vesicle	IEA
GO:0098691	Component	Dopaminergic synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:0099073	Component	Mitochondrion-derived vesicle	IDA	24446486
GO:0099074	Process	Mitochondrion to lysosome vesicle-mediated transport	IDA	24446486
GO:0140251	Process	Regulation protein catabolic process at presynapse	IEA
GO:1900242	Process	Regulation of synaptic vesicle endocytosis	IEA
GO:1900407	Process	Regulation of cellular response to oxidative stress	IBA
GO:1900407	Process	Regulation of cellular response to oxidative stress	IDA	24446486
GO:1900407	Process	Regulation of cellular response to oxidative stress	IMP	22314364
GO:1900407	Process	Regulation of cellular response to oxidative stress	ISS
GO:1901526	Process	Positive regulation of mitophagy	IDA	26310625
GO:1901526	Process	Positive regulation of mitophagy	IEA
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	IGI	23858059
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA	11439185, 12150907, 23453807
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP	10973942, 21113145
GO:1902254	Process	Negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IMP	23985028
GO:1902530	Process	Positive regulation of protein linear polyubiquitination	IEA
GO:1902530	Process	Positive regulation of protein linear polyubiquitination	IGI	23453807
GO:1902803	Process	Regulation of synaptic vesicle transport	NAS	21563316
GO:1903214	Process	Regulation of protein targeting to mitochondrion	NAS	20890124
GO:1903265	Process	Positive regulation of tumor necrosis factor-mediated signaling pathway	IDA	23453807
GO:1903351	Process	Cellular response to dopamine	TAS	23626584
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	17314283
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1903382	Process	Negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	IEA
GO:1903530	Process	Regulation of secretion by cell	IEA
GO:1903542	Process	Negative regulation of exosomal secretion	IMP	26911690
GO:1903861	Process	Positive regulation of dendrite extension	IEA
GO:1904049	Process	Negative regulation of spontaneous neurotransmitter secretion	IMP	22314364
GO:1904643	Process	Response to curcumin	IEA
GO:1904845	Process	Cellular response to L-glutamine	IEA
GO:1904881	Process	Cellular response to hydrogen sulfide	IEA
GO:1905091	Process	Positive regulation of type 2 mitophagy	IDA	20457763
GO:1905091	Process	Positive regulation of type 2 mitophagy	IMP	20871098, 23212910
GO:1905232	Process	Cellular response to L-glutamate	IEA
GO:1905281	Process	Positive regulation of retrograde transport, endosome to Golgi	NAS	26911690
GO:1905366	Process	Negative regulation of intralumenal vesicle formation	IMP	26911690
GO:1905477	Process	Positive regulation of protein localization to membrane	IC	26911690
GO:1905477	Process	Positive regulation of protein localization to membrane	IMP	26911690
GO:1990000	Process	Amyloid fibril formation	TAS
GO:1990381	Function	Ubiquitin-specific protease binding	IPI	24063750
GO:1990444	Function	F-box domain binding	IPI	12628165
GO:1990452	Component	Parkin-FBXW7-Cul1 ubiquitin ligase complex	IPI	12628165
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IMP	18541373
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IGI	18541373
GO:2001171	Process	Positive regulation of ATP biosynthetic process	IEA

MIM	HGNC	e!Ensembl
602544	8607	ENSG00000185345

O60260

Protein name

E3 ubiquitin-protein ligase parkin (Parkin) (EC 2.3.2.31) (Parkin RBR E3 ubiquitin-protein ligase) (Parkinson juvenile disease protein 2) (Parkinson disease protein 2)

Protein function

Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:10888878, PubMed:10973942, PubMed:11431533, PubMed:12150907, PubMed:12628165, PubMed:15105460,

PDB

1IYF , 2JMO , 4BM9 , 4I1F , 4I1H , 5C1Z , 5C23 , 5C9V , 5N2W , 5N38 , 5TR5 , 6GLC , 6HUE , 6N13 , 8IK6 , 8IKV , 8JWV , 8WZN , 8WZO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00240	ubiquitin	3 → 73	Ubiquitin family	Domain
PF17976	zf-RING_12	145 → 217	RING/Ubox like zinc-binding domain	Domain
PF17978	zf-RING_14	228 → 318	RING/Ubox like zinc-binding domain	Domain
PF01485	IBR	399 → 458	IBR domain, a half RING-finger domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the brain including the substantia nigra (PubMed:19501131, PubMed:9560156). Expressed in heart, testis and skeletal muscle (PubMed:9560156). Expression is down-regulated or absent in tumor biopsies, and absent in th

Sequence

MIVFVRFNSSHGFPVEVDSDTSIFQLKEVVAKRQGVPADQLRVIFAGKELRNDWTVQNCD
LDQQSIVHIVQRPWRKGQEMNATGGDDPRNAAGGCEREPQSLTRVDLSSSVLPGDSVGLA
VILHTDSRKDSPPAGSPAGRSIYNSFYVYCKGPCQRVQPGKLRVQCSTCRQATLTLTQGP
SCWDDVLIPNRMSGECQSPHCPGTSAEFFFKCGAHPTSDKETSVALHLIATNSRNITCIT
CTDVRSPVLVFQCNSRHVICLDCFHLYCVTRLNDRQFVHDPQLGYSLPCVAGCPNSLIKE
LHHFRILGEEQYNRYQQYGAEECVLQMGGVLCPRPGCGAGLLPEPDQRKVTCEGGNGLGC
GFAFCRECKEAYHEGECSAVFEASGTTTQAYRVDERAAEQARWEAASKETIKKTTKPCPR
CHVPVEKNGGCMHMKCPQPQCRLEWCWNCGCEWNRVCMGDHWFDV

Sequence length

465

Interactions

View interactions

	KEGG		Reactome
	Ubiquitin mediated proteolysis Mitophagy - animal Protein processing in endoplasmic reticulum Parkinson disease Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases		Pink/Parkin Mediated Mitophagy Josephin domain DUBs Aggrephagy Amyloid fiber formation Antigen processing: Ubiquitination & Proteasome degradation

336

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Pathogenic	rs751037529	RCV003313956
Autosomal dominant Parkinson disease 1	Likely pathogenic; Pathogenic	rs771586218	RCV005629857
Autosomal recessive juvenile Parkinson disease 2	Pathogenic; Likely pathogenic	rs2128330405, rs1440010564, rs1562519380, rs2115426221, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs191486604, rs1779896481 View all (13 more)	RCV001789789 RCV002489862 RCV002295357 RCV002250877 RCV000007452 RCV000007453 RCV000007458 RCV000007459 RCV000007462 RCV000007463 RCV000007466 RCV000007467 RCV000007469 RCV000269607 RCV004720210 RCV003326436 RCV001782974 RCV000644912 RCV005004377 RCV000043509 RCV000995593 RCV001784521 RCV001030787 RCV000999646 RCV005047195 RCV001809895 RCV001809967 RCV001780174
Leprosy, susceptibility to, 2	Likely pathogenic; Pathogenic	rs34424986	RCV000763143
Lung adenocarcinoma	Likely pathogenic; Pathogenic	rs1231455463	RCV004798975
Lung cancer	Likely pathogenic; Pathogenic	rs1440010564, rs34424986, rs137853060, rs191486604, rs754809877, rs147757966, rs747427602, rs748142049, rs1583215504, rs746646126, rs771529549, rs778305273	RCV002489862 RCV005031404 RCV005031405 RCV005004138 RCV005004295 RCV005004377 RCV005047075 RCV005036270 RCV005047195 RCV005047200 RCV005005001 RCV005040076
Lung carcinoma	Likely pathogenic; Pathogenic	rs34424986	RCV000763143
Ovarian cancer	Likely pathogenic; Pathogenic	rs34424986, rs137853060, rs191486604, rs754809877, rs147757966, rs747427602, rs748142049, rs1583215504, rs746646126, rs771529549, rs778305273	RCV004766985 RCV004766986 RCV004767242 RCV005004295 RCV005004377 RCV004768659 RCV005036270 RCV005047195 RCV005047200 RCV005005001 RCV005040076
Ovarian neoplasm	Likely pathogenic; Pathogenic	rs1440010564, rs34424986	RCV002489862 RCV000763143
Parkinson disease 12	Likely pathogenic; Pathogenic	rs34424986	RCV005055346
PRKN-related disorder	Likely pathogenic; Pathogenic	rs34424986, rs191486604, rs147757966	RCV003390652 RCV003950266 RCV003907954
See cases	Likely pathogenic; Pathogenic	rs34424986	RCV001197176
Young-onset Parkinson disease	Likely pathogenic; Pathogenic	rs34424986, rs191486604, rs55777503, rs772786691	RCV000612317 RCV004017596 RCV001449626 RCV001449634

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Uncertain significance	rs761213043	RCV005924121
Hepatocellular carcinoma	Benign; Likely benign	rs778021436	RCV005923561
Juvenile-onset Parkinson disease	Uncertain significance	rs761920927, rs12215447, rs575581029, rs886061233, rs572345942, rs886061239	RCV000281883 RCV000288616 RCV000301514 RCV000288371 RCV000383992 RCV000340482
Nonpapillary renal cell carcinoma	Uncertain significance	rs1204087943	RCV005920633
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	rs75008325, rs201039350	RCV005914589 RCV005899652
Sarcoma	Benign	rs80315562	RCV005916638
Schizophrenia	Uncertain significance	rs2485375890, rs2546979372	RCV002463488 RCV002463489
Thymoma	Benign; Likely benign	rs778021436	RCV005923562
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs146288080	RCV005912724
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs75008325, rs77112335, rs778021436	RCV005914590 RCV005917894 RCV005923564

Show/Hide Text Mining Associations (190)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	21215313
Acute Kidney Injury	Associate	33494815
Adenocarcinoma	Associate	32998713
Adenocarcinoma of Lung	Associate	12719539, 25656612, 28843361
Age Related Hearing Impairment 1	Associate	34337005
Aggressive Periodontitis	Associate	29995846
Alzheimer Disease	Associate	20876472, 26721933, 27776828, 29935546, 31755389, 36379251
Amyotrophic Lateral Sclerosis	Associate	25294927, 26365381, 35893043, 36379251
Anosmia	Associate	32677319
Aortic Aneurysm Thoracic	Associate	35510553
Aphasia Broca	Associate	22434215
Asthma	Associate	40610493
Attention Deficit Disorder with Hyperactivity	Associate	23164820, 36980871
Autism Spectrum Disorder	Associate	27042285, 32081867, 36980871, 38287090
Autistic Disorder	Associate	19404257, 38287090
Bipolar Disorder	Inhibit	30575805
Bone Diseases	Associate	36047447
Brain Ischemia	Associate	23666460, 35760846
Breast Neoplasms	Associate	31429726, 32649310, 33888730, 33929971
Breast Neoplasms	Inhibit	32929329
Bulimia	Associate	27590295
Buruli Ulcer	Associate	27128681
Carbon Monoxide Poisoning	Associate	24063657
Carcinogenesis	Associate	31577952
Carcinoma Hepatocellular	Associate	27740515, 36430876
Carcinoma Non Small Cell Lung	Associate	23237220, 26245297, 32320388
Carcinoma Ovarian Epithelial	Associate	27286703
Carcinoma Renal Cell	Inhibit	18592004, 33139776, 35059737
Carcinoma Renal Cell	Associate	33019842, 36385010, 37382962
Carcinoma Squamous Cell	Associate	26908436
Cartilage Diseases	Associate	32417558
Chromosome Aberrations	Associate	11561042, 27456084
Ciuffo Syndrome	Associate	23727886
Cochlear Diseases	Associate	35708118
Cognition Disorders	Associate	27788143
Colonic Neoplasms	Associate	23225159
Colonic Polyps	Associate	34126796
Colorectal Neoplasms	Associate	23225159, 32343233, 35181726, 36871142, 39332629
Compulsive Personality Disorder	Associate	27590295
Deafness	Associate	38552739
Death	Associate	12034719, 12692130, 36768338
Dementia	Associate	18389263, 24190026, 31512170, 33045815
Depressive Disorder	Associate	21856206
Developmental Disabilities	Associate	36980871, 38287090
Diabetes Mellitus	Associate	20876472
Diabetes Mellitus Type 2	Associate	31123324, 36360309
Diabetes Mellitus Type 2	Inhibit	35605453
Disease	Associate	19617340, 23459986, 25393808
Down Syndrome	Associate	31332166
Drug Related Side Effects and Adverse Reactions	Associate	22841634, 23628791, 25315681, 28383562, 30375512, 37307677, 39305773
Dyskinesia Drug Induced	Associate	10824074, 19330201
Dystonia	Associate	10824074, 12397156, 31386307, 31731261, 35041927, 39957199
Dystonic Disorders	Associate	19050041
Endodermal Sinus Tumor	Associate	34117242
Endometrial Neoplasms	Associate	34616150
Epilepsy Temporal Lobe	Associate	18389263
Erythema Nodosum	Associate	30143000
Esophageal Squamous Cell Carcinoma	Associate	26857264
Esophageal Squamous Cell Carcinoma	Inhibit	37833780
Essential Tremor	Associate	12397156
Facial Neoplasms	Associate	22434215
Fatigue	Associate	32677319
Fibrosis	Associate	27740515
Food Addiction	Associate	27590295
Gastrointestinal Stromal Tumors	Associate	27974047
Genetic Diseases Inborn	Associate	18486522, 27605430
Genetic Predisposition to Disease	Associate	18211709
Glaucoma	Associate	31588173
Glaucoma 3 Primary Congenital A	Associate	31588173
Glioblastoma	Associate	16582634, 23225159, 26975375, 27148961, 31751860
Hearing Loss Noise Induced	Associate	35708118
Heart Diseases	Stimulate	19038850
Heart Diseases	Associate	19050041, 30911576
Hepatitis C	Associate	27740515
Hepatitis C Chronic	Stimulate	23555273
Heredodegenerative Disorders Nervous System	Associate	27716287, 30235682
HIV Infections	Associate	19832807
Huntington Disease	Stimulate	31717806
Hypersensitivity Immediate	Associate	31308240
Hypoadrenocorticism Familial	Associate	11078524
Hypoxia	Stimulate	33496385
Hypoxia	Associate	36481701, 36803235
Hypoxia Brain	Associate	36481701
Idiopathic Pulmonary Fibrosis	Inhibit	31775876
Immunoglobulin G4 Related Disease	Associate	24375549
Immunologic Deficiency Syndromes	Associate	31332166
Infections	Associate	16734611
Inflammation	Associate	12692130, 24578538, 30867819, 33029617, 36768317, 39273568
Invasive Pneumococcal Disease Recurrent Isolated 2	Associate	27128681
Ischemia	Associate	35760846, 36788635
Islet cell tumor syndrome	Associate	31123324
Kidney Failure Chronic	Associate	18560894
Lead Poisoning Nervous System	Associate	39305773
Leprosy	Associate	16734611, 20876472, 23350010, 23861666, 24578538, 27740515, 31308240
Leukemia	Associate	23733339
Leukemia Myeloid Acute	Associate	39519080
Leukoencephalopathies	Associate	31691183, 39755597
Lewy Body Disease	Associate	14532270, 15728840, 18389263, 26465922
Liver Diseases	Associate	27740515
Liver Failure	Associate	23555273
Lumbar Stenosis Familial	Associate	34020649
Lung Neoplasms	Associate	23237220, 25640678, 25656612, 28843361, 31285534
Lymphatic Metastasis	Associate	28351314, 37833780
Lymphoma Non Hodgkin	Associate	19832807
Machado Joseph Disease	Associate	22023810
Malformations of Cortical Development Group I	Associate	36975444
Melanoma	Inhibit	32938713
Memory Disorders	Stimulate	27788143
Mental Disorders	Associate	18987353
MERRF Syndrome	Associate	32061767
Mitochondrial complex I deficiency	Associate	23555273
Mitochondrial cytopathy	Associate	19815446
Mitochondrial Diseases	Associate	17989306, 19067348, 19815446, 20547844, 20871098, 20885945, 21113145, 21139416, 21292769, 21615408, 21921694, 22841634, 24446486, 24721425, 24928900 View all (33 more)
Mitochondrial Diseases	Stimulate	31432739, 38229174
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	21215313, 27412236
Mouth Neoplasms	Associate	35421271
Movement Disorders	Associate	39755597
Multiple Myeloma	Associate	36975444
Multiple Sclerosis	Stimulate	34421896
Multiple System Atrophy	Associate	11459900, 26465922
Muscular Dystrophy Duchenne	Associate	20598272
Mycobacterium Infections Nontuberculous	Associate	23770887
Myeloproliferative Syndrome Transient	Associate	23733339
Myocardial Infarction	Stimulate	35760846
Myoclonus	Associate	18389263
Myopathy with Giant Abnormal Mitochondria	Associate	19966284, 24149988, 25801386, 26365381, 26509433, 29645350, 31110043, 31775876
Nasopharyngeal Carcinoma	Associate	28351314, 39286844
Nasopharyngeal Carcinoma	Inhibit	38149563
Neoplasm Metastasis	Associate	32343233, 37142218
Neoplasms	Inhibit	12719539, 20195527, 21221875, 23010174, 25640678, 26975375, 28306509, 28351314, 31285534, 31429726, 31577952, 32929329, 32938713, 34126796, 35059737, 37833780 View all (1 more)
Neoplasms	Associate	20598272, 20876472, 23770887, 25656612, 26245297, 26857264, 27740515, 28038320, 28631565, 28673964, 28930681, 32343233, 32420915, 33139776, 35039565, 35181726, 36481701 View all (2 more)
Neoplastic Syndromes Hereditary	Associate	15557340, 28414322
Nerve Degeneration	Associate	11439185, 11459900, 17472700, 18389263, 19074146, 19617340, 22434215, 23459986, 25393808, 26465922, 32581291, 33757554, 34048689
Nerve Degeneration	Inhibit	19483198
Nervous System Diseases	Associate	19038850, 32864185, 36980871
Neurobehavioral Manifestations	Associate	27788143
Neuroblastoma	Associate	15557340, 17472700, 19229105, 25689131
Neurodegenerative Diseases	Associate	17472700, 19483198, 19966284, 21694720, 22121227, 24063657, 28281653, 28306509, 29138676, 29223129, 31285534, 32581291, 35053314, 36379251, 37735116
Neurologic Manifestations	Associate	31512170, 36980871
Neurotoxicity Syndromes	Associate	18248610
Niemann Pick Disease Type C	Associate	30867819
Noninsulin dependent diabetes mellitus with deafness	Associate	38552739
Obsessive Compulsive Disorder	Associate	25393808
Optic Atrophy Hereditary Leber	Associate	20547844, 39214298
Osteoarthritis	Associate	28801211, 32417558
Oto palato digital syndrome type 2	Stimulate	35905946
Ovarian Neoplasms	Associate	12719539, 21221875, 27286703
Pallidopyramidal syndrome	Associate	24361204
Paratyphoid Fever	Associate	16734611
Parkinson Disease	Associate	10824074, 12058349, 12397156, 12692130, 14756800, 15606901, 15718234, 15728840, 15816865, 15944382, 16227559, 16352719, 16606767, 17203291, 17324265 View all (234 more)
Parkinson Disease	Inhibit	36350063
Parkinson Disease Familial Type 1	Associate	11459900, 23212910
Parkinson Disease Secondary	Associate	11179010, 11561042, 11920285, 12728478, 15725358, 17400506, 19087301, 19483198, 19615059, 19815446, 20669327, 23350010, 23459986, 23628791, 23767969 View all (6 more)
Parkinsonian Disorders	Associate	10824074, 11078524, 11179010, 11254447, 11439185, 11459900, 11462174, 11553688, 12034719, 12397156, 12621021, 12634850, 12719539, 12728478, 12972428 View all (49 more)
Parkinsonism Dystonia Infantile	Associate	32193420
Patterned dystrophy of retinal pigment epithelium	Associate	30012208
Pemphigus	Associate	31681304
Plaque Amyloid	Associate	18389263
Polyneuropathies	Associate	32864185
Polyps	Associate	34126796
Post Acute COVID 19 Syndrome	Associate	24063657
Postural Orthostatic Tachycardia Syndrome	Associate	31512170
Primary Dysautonomias	Associate	33045815
Primary Ovarian Insufficiency	Associate	35066699
Prosopagnosia	Associate	22434215
Prostatic Neoplasms	Associate	32264916
Pulmonary Disease Chronic Obstructive	Associate	25714760, 38110986
Pulmonary Disease Chronic Obstructive	Stimulate	30302028
Reflex Abnormal	Associate	10824074, 32677319
Reperfusion Injury	Associate	36788635, 38012584
Schizophrenia	Associate	36980871
Sepsis	Inhibit	33494815
Shock	Associate	30629163
Signs and Symptoms	Associate	28467897
Sleep Deprivation	Associate	21292769, 25315681
Sleep Wake Disorders	Associate	18389263
Squamous Cell Carcinoma of Head and Neck	Associate	33227411, 33456497
Status Asthmaticus	Associate	33253229
Stomach Neoplasms	Associate	26857264, 35039565, 36195596
Strabismus	Associate	30772522
Substance Related Disorders	Associate	35052345
Syndrome	Associate	28843361
Synucleinopathies	Associate	15944382, 26465922
tinea nigra	Associate	23459986, 25817512
Tooth Erosion	Associate	36047447
Tremor	Associate	12397156, 30702579, 32864185
Triple Negative Breast Neoplasms	Associate	26317899
Typhoid Fever	Associate	16734611, 27740515
Usher Syndrome Type IE	Stimulate	40610493
Uterine Cervical Neoplasms	Associate	23010174, 28631565

PRKN (parkin RBR E3 ubiquitin protein ligase)