Hs00059023_cn

• Gene Symbol: C5
• Assay Reference Genome Location: Chr.9:120974907 on build GRCh38
• Cytoband: 9q33.2

Target Gene Details

• Entrez Gene ID: 727
• Gene Name: complement component 5
• Gene Aliases: C5D, C5a, C5b, CPAMD4, ECLZB
• Location: Chr.9:120952335-121075174 on Build GRCh38
• Assay Gene Location: Overlaps Intron 35 - Exon 36

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C5	NM_001317163.1			NP_001304092.1
	NM_001735.2			NP_001726.2
	XM_011518980.2			XP_011517282.1
	XM_017015102.1			XP_016870591.1
	XM_017015103.1			XP_016870592.1
	AB209031.1			BAD92268.1
	BC113738.1
	BC113740.1
	M57729.1			AAA51925.1
	M65134.1			AAA51856.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759713	Chr.9:120885919 - 121080717 on Build GRCh38	Loss	PHF19 C5 CNTRL TRAF1

More Information

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

Panther Classification:

Molecular Function -

protease inhibitor

Gene Ontology Categories:

Process(es)

activation of MAPK activity
in utero embryonic development
chemotaxis
response to stress
inflammatory response
complement activation
complement activation, alternative pathway
complement activation, classical pathway
cell surface receptor signaling pathway
G-protein coupled receptor signaling pathway
positive regulation of vascular endothelial growth factor production
negative regulation of macrophage chemotaxis
negative regulation of endopeptidase activity
cytolysis
regulation of complement activation
positive regulation of angiogenesis
cell chemotaxis
positive regulation of chemokine secretion
mitophagy in response to mitochondrial depolarization

Function(s)

endopeptidase inhibitor activity
receptor binding
protein binding
chemokine activity