Hs00072707_cn

• Gene Symbol: PACRG
• Assay Reference Genome Location: Chr.6:162727686 on build GRCh38
• Cytoband: 6q26

Target Gene Details

• Entrez Gene ID: 135138
• Gene Name: PARK2 coregulated
• Gene Aliases: GLUP, HAK005771, PARK2CRG
• Location: Chr.6:162726870-163315492 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PACRG	NM_001080378.1			NP_001073847.1
	NM_152410.2			NP_689623.2
	XM_017010275.1			XP_016865764.1
	XM_017010277.1			XP_016865766.1
	XM_017010278.1			XP_016865767.1
	XM_017010279.1			XP_016865768.1
	AK057286.1			BAB71410.1
	BC044227.1			AAH44227.1

Target Gene Details

• Entrez Gene ID: 5071
• Gene Name: parkin RBR E3 ubiquitin protein ligase
• Gene Aliases: AR-JP, LPRS2, PDJ, PRKN
• Location: Chr.6:161347417-162727802 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PARK2	NM_004562.2			NP_004553.2
	NM_013987.2			NP_054642.2
	NM_013988.2			NP_054643.2
	XM_011535863.1			XP_011534165.1
	XM_017010909.1			XP_016866398.1
	AB009973.1			BAA25751.1
	AB245403.1
	AK292590.1
	BC022014.2			AAH22014.1
	DB023187.1
	GU345837.1
	GU345839.1
	GU357501.1
	KC357595.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv605159	Chr.6:162379124 - 163058475 on Build GRCh38	Loss	PACRG PACRG-AS2 PARK2
esv2759489	Chr.6:162419890 - 162812229 on Build GRCh38	Gain	PACRG PARK2
nsv1015507	Chr.6:162444113 - 162913747 on Build GRCh38	Gain	PACRG PARK2
nsv605180	Chr.6:162673891 - 162791267 on Build GRCh38	Loss	PACRG PARK2
nsv830857	Chr.6:162643779 - 162824781 on Build GRCh38	Loss	PACRG PARK2
esv3571505	Chr.6:161937230 - 162847872 on Build GRCh38	Loss	PACRG PARK2
nsv1026490	Chr.6:162712401 - 163284676 on Build GRCh38	Gain	PACRG PACRG-AS2 PACRG-AS3 PARK2
dgv6176n100	Chr.6:162161146 - 162762531 on Build GRCh38	Gain	PACRG PARK2
nsv1018573	Chr.6:162604329 - 162751777 on Build GRCh38	Loss	PACRG PARK2
nsv517562	Chr.6:162060428 - 162828613 on Build GRCh38	Gain+Loss	PACRG PARK2

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

spermatid development
cellular response to unfolded protein
negative regulation of cell death
negative regulation of transcription from RNA polymerase II promoter
protein polyubiquitination
mitochondrial fission
mitophagy
negative regulation of protein phosphorylation
startle response
transcription, DNA-templated
protein monoubiquitination
response to oxidative stress
mitochondrion organization
central nervous system development
learning
adult locomotory behavior
proteasomal protein catabolic process
regulation of autophagy
positive regulation of gene expression
negative regulation of gene expression
positive regulation of mitochondrial fusion
negative regulation of mitochondrial fusion
regulation of mitochondrion organization
regulation of glucose metabolic process
free ubiquitin chain polymerization
regulation of dopamine secretion
macroautophagy
protein ubiquitination
regulation of protein ubiquitination
protein destabilization
negative regulation of actin filament bundle assembly
regulation of lipid transport
positive regulation of proteasomal ubiquitin-dependent protein catabolic process
negative regulation of glucokinase activity
response to endoplasmic reticulum stress
synaptic transmission, glutamatergic
protein K29-linked ubiquitination
ERAD pathway
regulation of dopamine metabolic process
norepinephrine metabolic process
dopamine metabolic process
protein ubiquitination involved in ubiquitin-dependent protein catabolic process
positive regulation of I-kappaB kinase/NF-kappaB signaling
proteasome-mediated ubiquitin-dependent protein catabolic process
positive regulation of DNA binding
negative regulation of neuron apoptotic process
cellular protein catabolic process
cellular protein metabolic process
protein K27-linked ubiquitination
negative regulation by host of viral genome replication
positive regulation of protein catabolic process
positive regulation of transcription from RNA polymerase II promoter
negative regulation of JNK cascade
negative regulation of insulin secretion
protein stabilization
positive regulation of neurotransmitter uptake
dopamine uptake involved in synaptic transmission
protein autoubiquitination
regulation of mitochondrial membrane potential
zinc ion homeostasis
regulation of canonical Wnt signaling pathway
parkin-mediated mitophagy in response to mitochondrial depolarization
neuron cellular homeostasis
protein K63-linked ubiquitination
protein localization to mitochondrion
aggresome assembly
protein K48-linked ubiquitination
protein K11-linked ubiquitination
cellular response to manganese ion
protein K6-linked ubiquitination
negative regulation of canonical Wnt signaling pathway
positive regulation of mitochondrial fission
negative regulation of release of cytochrome c from mitochondria
cellular response to toxic substance
mitophagy in response to mitochondrial depolarization
regulation of cellular response to oxidative stress
negative regulation of neuron death
positive regulation of proteasomal protein catabolic process
negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator
negative regulation of primary amine oxidase activity
positive regulation of protein linear polyubiquitination
regulation of synaptic vesicle transport
negative regulation of oxidative stress-induced cell death
regulation of protein targeting to mitochondrion
positive regulation of tumor necrosis factor-mediated signaling pathway
cellular response to dopamine
negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway
negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway
positive regulation of dendrite extension
negative regulation of spontaneous neurotransmitter secretion
regulation of reactive oxygen species metabolic process
negative regulation of reactive oxygen species metabolic process

Function(s)

G-protein coupled receptor binding
actin binding
Hsp70 protein binding
heat shock protein binding
ubiquitin protein ligase binding
alpha-tubulin binding
beta-tubulin binding
chaperone binding
Hsp90 protein binding
transcription regulatory region sequence-specific DNA binding
transcription factor activity, sequence-specific DNA binding
ubiquitin-protein transferase activity
protein binding
beta-catenin binding
zinc ion binding
tubulin binding
ligase activity
SH3 domain binding
enzyme binding
kinase binding
protein kinase binding
PDZ domain binding
ubiquitin conjugating enzyme binding
identical protein binding
histone deacetylase binding
ubiquitin binding
phospholipase binding
ubiquitin protein ligase activity
cullin family protein binding
ubiquitin protein ligase activity involved in ERAD pathway
ubiquitin-specific protease binding
F-box domain binding