C4A gene

GPTKB entity

Statements (28)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:systemic_lupus_erythematosus
autoimmune diseases
immune response
gptkbp:biologicalProcess complement activation
immune complex clearance
gptkbp:discoveredBy genetic studies of MHC region
gptkbp:encodes complement C4A protein
gptkbp:Entrez_Gene_ID 720
ENSG00000244731
gptkbp:expressedIn blood
liver
gptkbp:fullName complement component 4A (Rodgers blood group)
gptkbp:hasPolymorphism copy number variation
gptkbp:HGNC_ID HGNC:1323
https://www.w3.org/2000/01/rdf-schema#label C4A gene
gptkbp:locatedOnChromosome gptkb:6p21.3
gptkb:chromosome_6
gptkbp:mutationAssociatedWith deficiency increases risk of autoimmune disease
gptkbp:OMIM 120810
gptkbp:orthologInMouse C4a
gptkbp:partOf major histocompatibility complex (MHC) class III region
gptkbp:proteinFamily complement system
gptkbp:relatedTo gptkb:C4B_gene
gptkbp:UniProtID P0C0L4
gptkbp:bfsParent gptkb:6p21.3
gptkbp:bfsLayer 7