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FLASH GENE

Symbol

C3

contributors: mct - updated : 12-10-2021

HGNC name	complement component 3
HGNC id	1318

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

C3D

related resource

C3base - Mutation registry for C3 deficiency

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       in C3 glomerulopathy constitutional         mitigates the phagocytosis of photoreceptors by macrophages in the outer retina

Susceptibility

to age-related macular degeneration (ARMD9) to cardiometabolic diseases

Variant & Polymorphism other	R102G polymorphism increases risk of age-related macular degeneration
	specific C3 polymorphisms have been shown to predict future cardiovascular events

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed blood coagulation   C3 binds fibrinogen beta-chain and disruption of fibrinogen-C3 interactionenhances fibrinolysis, which represents a potential novel target tool to reduce thrombosis in high risk individuals

ANIMAL & CELL MODELS