Gene table of C3 : complement C3

Gene-disease associations table

Disease IDDisease nameSource of annotation with C3OMIM linkNumber of associated genesgenes
613779COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVEOMIM, HUMSAVAR link to OMIM 1C3
PS603075MACULAR DEGENERATION, AGE-RELATEDOMIM, HUMSAVAR link to OMIM 19RAX2, HMCN1, ERCC6, TLR4, CFHR3, CFI, CFHR1, CFH, C3, HTRA1, ABCA4, CX3CR1, FBLN5, C2, CFB, CST3, APOE, ARMS2, C9
PS235400HEMOLYTIC UREMIC SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 11CFH, CFHR3, CFHR1, BAAT, CFI, THBD, C3AR1, C3, CD46, CFB, DGKE

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Annotation of the gene C3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Pertussishsa051336.46
Complement and coagulation cascadeshsa046106.58
Legionellosishsa051346.88
Systemic lupus erythematosushsa053225.95
Viral carcinogenesishsa052035.08
Chagas disease (American trypanosomiasis)hsa051425.99
Leishmaniasishsa051406.32
Phagosomehsa041455.27
Staphylococcus aureus infectionhsa051506.64
Tuberculosishsa051525.17
Herpes simplex infectionhsa051685.08
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Signaling by GPCRR-HSA-3727902.68
G alpha (i) signalling eventsR-HSA-4185945.1
Class A/1 (Rhodopsin-like receptors)R-HSA-3730764.69
Regulation of Complement cascadeR-HSA-9776068.4
Immune SystemR-HSA-1682562.37
Peptide ligand-binding receptorsR-HSA-3752765.41
Alternative complement activationR-HSA-17373610.66
Complement cascadeR-HSA-1666585.38
Activation of C3 and C5R-HSA-17457710.18
Initial triggering of complementR-HSA-1666635.51
GPCR downstream signalingR-HSA-3883963.07
Innate Immune SystemR-HSA-1682493.17
GPCR ligand bindingR-HSA-5007924.19
Adaptive Immune SystemR-HSA-12802183.19
Signal TransductionR-HSA-1625821.78
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellR-HSA-1989334.7
Associated GO terms for Molecular function
GO termGO IDGO IC
serine-type endopeptidase activityGO:00042524.4
endopeptidase activityGO:00041753.63
peptidase inhibitor activityGO:00304144.55
bindingGO:00054880.18
C5a anaphylatoxin chemotactic receptor bindingGO:00317149.74
C5L2 anaphylatoxin chemotactic receptor bindingGO:00317159.74
G-protein coupled receptor bindingGO:00016644.18
enzyme inhibitor activityGO:00048573.78
molecular function regulatorGO:00987722.51
peptidase activityGO:00082333.23
serine-type peptidase activityGO:00082364.27
endopeptidase regulator activityGO:00611354.57
hydrolase activityGO:00167871.9
serine hydrolase activityGO:00171714.26
enzyme regulator activityGO:00302342.85
peptidase regulator activityGO:00611344.37
lipid bindingGO:00082893.26
catalytic activityGO:00038241.05
cofactor bindingGO:00480374.16
endopeptidase inhibitor activityGO:00048664.6
peptidase activity, acting on L-amino acid peptidesGO:00700113.26
protein bindingGO:00055150.46
receptor bindingGO:00051022.43