Hs05127284_cn

• Gene Symbol: ACTA2
• Assay Reference Genome Location: Chr.10:88972313 on build GRCh38
• Cytoband: 10q23.31

Target Gene Details

• Entrez Gene ID: 59
• Gene Name: actin, alpha 2, smooth muscle, aorta
• Gene Aliases: AAT6, ACTSA, MYMY5
• Location: Chr.10:88935074-88991397 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ACTA2	NM_001141945.2			NP_001135417.1
	NM_001320855.1			NP_001307784.1
	AY692464.1
	BP248338.1
	DC304647.1
	DC354672.1
	DC359878.1
	DC385559.1

Target Gene Details

• Entrez Gene ID: 355
• Gene Name: Fas cell surface death receptor
• Gene Aliases: ALPS1A, APO-1, APT1, CD95, FAS1, FASTM, TNFRSF6
• Location: Chr.10:88968429-89017061 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAS	XM_006717819.3	1	3885	XP_006717882.1
	AB209361.1	1	2518	BAD92598.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831943	Chr.10:88905079 - 89106077 on Build GRCh38	Gain	STAMBPL1 ACTA2-AS1 MIR4679-2 ACTA2 FAS FAS-AS1 MIR4679-1
esv3624144	Chr.10:88876937 - 89011636 on Build GRCh38	Gain	STAMBPL1 ACTA2-AS1 ACTA2 FAS FAS-AS1
esv3624139	Chr.10:88724980 - 89003307 on Build GRCh38	Gain	STAMBPL1 ACTA2-AS1 LIPM ACTA2 FAS ANKRD22 FAS-AS1 LIPN LIPK

More Information

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

Panther Classification:

Molecular Function -

actin and actin related protein, actin or actin-binding cytoskeletal protein, cytoskeletal protein, transmembrane signal receptor

Gene Ontology Categories:

Process(es)

muscle contraction
regulation of blood pressure
response to virus
positive regulation of gene expression
vascular smooth muscle contraction
glomerular mesangial cell development
mesenchyme migration
ovarian follicle atresia
immunoglobulin production
renal system process
protein complex assembly
apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic process
activation-induced cell death of T cells
inflammatory cell apoptotic process
inflammatory response
immune response
signal transduction
spermatogenesis
brain development
aging
circadian rhythm
extrinsic apoptotic signaling pathway via death domain receptors
response to toxic substance
gene expression
regulation of gene expression
B cell mediated immunity
telencephalon development
dendrite regeneration
positive regulation of protein homooligomerization
response to lipopolysaccharide
tumor necrosis factor-mediated signaling pathway
regulation of cell proliferation
response to drug
ovulation cycle
regulation of apoptotic process
chordate embryonic development
positive regulation of apoptotic process
negative regulation of apoptotic process
regulation of cysteine-type endopeptidase activity involved in apoptotic process
positive regulation of MAPK cascade
response to peptide hormone
negative thymic T cell selection
regulation of lymphocyte differentiation
regulation of myeloid cell differentiation
response to cycloheximide
spleen development
negative regulation of B cell activation
protein homooligomerization
response to glucocorticoid
maternal process involved in female pregnancy
positive regulation of lymphocyte apoptotic process
cellular response to hydrogen peroxide
response to growth factor
cellular response to phenylalanine
cellular response to mechanical stimulus
cellular response to cobalt ion
cellular response to lithium ion
cellular response to glucose stimulus
cellular response to interleukin-1
cellular response to estrogen stimulus
cellular response to hyperoxia
cellular response to hypoxia
cellular response to hydrostatic pressure
motor neuron apoptotic process
apoptotic signaling pathway
extrinsic apoptotic signaling pathway
extrinsic apoptotic signaling pathway in absence of ligand
hepatocyte apoptotic process
activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway
liver regeneration
necroptotic signaling pathway
regulation of extrinsic apoptotic signaling pathway via death domain receptors
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
response to fluoride
positive regulation of extrinsic apoptotic signaling pathway in absence of ligand

Function(s)

ATP binding
protein kinase binding
protease binding
signal transducer activity
receptor activity
tumor necrosis factor-activated receptor activity
protein binding
kinase binding
protein complex binding
identical protein binding