Hs00839014_cn

• Gene Symbol: C3
• Assay Reference Genome Location: Chr.19:6678402 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 718
• Gene Name: complement component 3
• Gene Aliases: AHUS5, ARMD9, ASP, C3a, C3b, CPAMD1, HEL-S-62p
• Location: Chr.19:6677835-6720682 on Build GRCh38
• Assay Gene Location: Overlaps Intron 39 - Exon 39

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C3	NM_000064.3			NP_000055.2
	AI758500.1
	AK094728.1
	AK304071.1
	BC150179.1
	BC150200.1
	EU794602.1
	K02765.1			AAA85332.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv6235n54	Chr.19:6677148 - 6679405 on Build GRCh38	Loss	C3

More Information

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

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

positive regulation of type IIa hypersensitivity
positive regulation of protein phosphorylation
positive regulation of activation of membrane attack complex
tolerance induction
proteolysis
fatty acid metabolic process
inflammatory response
immune response
complement activation
complement activation, alternative pathway
complement activation, classical pathway
signal transduction
G-protein coupled receptor signaling pathway
blood coagulation
positive regulation of vascular endothelial growth factor production
positive regulation of glucose transport
regulation of triglyceride biosynthetic process
positive regulation of lipid storage
negative regulation of endopeptidase activity
regulation of complement activation
response to magnesium ion
response to estradiol
response to progesterone
response to estrogen
positive regulation of G-protein coupled receptor protein signaling pathway
positive regulation of angiogenesis
positive regulation of developmental growth
regulation of immune response
response to glucocorticoid
positive regulation of ERK1 and ERK2 cascade
positive regulation of apoptotic cell clearance

Function(s)

serine-type endopeptidase activity
endopeptidase inhibitor activity
receptor binding
protein binding
lipid binding
C5L2 anaphylatoxin chemotactic receptor binding
cofactor binding