Hs04842917_cn

• Gene Symbol: SNCA
• Assay Reference Genome Location: Chr.4:89730951 on build GRCh38
• Cytoband: 4q22.1

Target Gene Details

• Entrez Gene ID: 6622
• Gene Name: synuclein alpha
• Gene Aliases: NACP, PARK1, PARK4, PD1
• Location: Chr.4:89724099-89838324 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SNCA	NM_000345.3			NP_000336.1
	NM_001146054.1			NP_001139526.1
	NM_001146055.1			NP_001139527.1
	NM_007308.2			NP_009292.1
	XM_011532208.2			XP_011530510.1
	XM_017008562.1			XP_016864051.1
	XM_017008563.1			XP_016864052.1
	AK290169.1
	AY049786.1			AAL15443.1
	BC013293.2			AAH13293.1
	BC108275.1			AAI08276.1
	CR457058.1			CAG33339.1
	CR541653.1			CAG46454.1
	D31839.1			BAA06625.1
	DA391115.1
	JN709859.1
	JN709860.1
	JN709861.1
	JN709862.1
	JN709863.1
	JN709864.1
	JN709865.1
	JN709866.1
	JN709867.1
	JN709868.1
	JN709869.1
	L08850.1			AAA16117.1
	L36674.1			AAA98493.1
	L36675.1			AAA98487.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv966296	Chr.4:89730925 - 89733300 on Build GRCh38	Duplication	SNCA
nsv1012406	Chr.4:89246630 - 90245636 on Build GRCh38	Loss	SNCA-AS1 CCSER1 SNCA GPRIN3 MMRN1
nsv594806	Chr.4:88621130 - 90539537 on Build GRCh38	Gain	FAM13A HERC3 SNCA-AS1 FAM13A-AS1 CCSER1 NAP1L5 SNCA GPRIN3 MMRN1 TIGD2

More Information

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

Panther Classification:

Molecular Function -

membrane trafficking regulatory protein

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
microglial cell activation
positive regulation of receptor recycling
negative regulation of protein phosphorylation
positive regulation of neurotransmitter secretion
fatty acid metabolic process
neutral lipid metabolic process
phospholipid metabolic process
apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
mitochondrial membrane organization
aging
adult locomotory behavior
response to iron(II) ion
regulation of phospholipase activity
negative regulation of platelet-derived growth factor receptor signaling pathway
regulation of glutamate secretion
regulation of dopamine secretion
negative regulation of microtubule polymerization
receptor internalization
protein destabilization
response to magnesium ion
negative regulation of transporter activity
response to lipopolysaccharide
negative regulation of monooxygenase activity
positive regulation of peptidyl-serine phosphorylation
response to interferon-gamma
cellular response to oxidative stress
negative regulation of histone acetylation
regulation of locomotion
dopamine biosynthetic process
response to drug
mitochondrial ATP synthesis coupled electron transport
regulation of macrophage activation
positive regulation of apoptotic process
negative regulation of apoptotic process
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
extracellular fibril organization
negative regulation of neuron apoptotic process
cellular protein metabolic process
cellular response to fibroblast growth factor stimulus
positive regulation of endocytosis
negative regulation of exocytosis
negative regulation of dopamine metabolic process
behavioral response to cocaine
regulation of long-term neuronal synaptic plasticity
synaptic vesicle endocytosis
synapse organization
regulation of acyl-CoA biosynthetic process
positive regulation of release of sequestered calcium ion into cytosol
dopamine uptake involved in synaptic transmission
negative regulation of dopamine uptake involved in synaptic transmission
negative regulation of serotonin uptake
negative regulation of norepinephrine uptake
calcium ion homeostasis
oxidation-reduction process
excitatory postsynaptic potential
long-term synaptic potentiation
positive regulation of inositol phosphate biosynthetic process
negative regulation of thrombin receptor signaling pathway
response to interleukin-1
cellular response to copper ion
cellular response to epinephrine stimulus
positive regulation of protein serine/threonine kinase activity
negative regulation of neuron death
negative regulation of mitochondrial electron transport, NADH to ubiquinone
positive regulation of glutathione peroxidase activity
positive regulation of hydrogen peroxide catabolic process
regulation of synaptic vesicle recycling
regulation of reactive oxygen species biosynthetic process
negative regulation of chaperone-mediated autophagy

Function(s)

magnesium ion binding
fatty acid binding
copper ion binding
calcium ion binding
protein binding
phospholipid binding
microtubule binding
ferrous iron binding
zinc ion binding
oxidoreductase activity
kinesin binding
protein domain specific binding
histone binding
identical protein binding
alpha-tubulin binding
cysteine-type endopeptidase inhibitor activity involved in apoptotic process
phospholipase binding
transcription regulatory region DNA binding
dynein binding
protein N-terminus binding
tau protein binding
beta-tubulin binding
phosphoprotein binding
phospholipase D inhibitor activity