C3 (complement C3)

2003-08-01  

Identity

HGNC
LOCATION
19p13.3
LOCUSID
ALIAS
AHUS5,ARMD9,ASP,C3a,C3b,CPAMD1,HEL-S-62p
FUSION GENES

Other Information

Locus ID:

NCBI: 718
MIM: 120700
HGNC: 1318
Ensembl: ENSG00000125730

Variants:

dbSNP: 718
ClinVar: 718
TCGA: ENSG00000125730
COSMIC: C3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125730ENST00000245907P01024
ENSG00000125730ENST00000245907V9HWA9
ENSG00000125730ENST00000596548M0QYC8
ENSG00000125730ENST00000600744M0R1Q1
ENSG00000125730ENST00000601008M0R0Q9
ENSG00000125730ENST00000602229M0QXZ3

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Systemic lupus erythematosusKEGGko05322
Complement and coagulation cascadesKEGGhsa04610
Systemic lupus erythematosusKEGGhsa05322
LeishmaniasisKEGGko05140
LeishmaniasisKEGGhsa05140
Chagas disease (American trypanosomiasis)KEGGko05142
Chagas disease (American trypanosomiasis)KEGGhsa05142
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
TuberculosisKEGGko05152
TuberculosisKEGGhsa05152
PertussisKEGGko05133
PertussisKEGGhsa05133
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
LegionellosisKEGGko05134
LegionellosisKEGGhsa05134
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellREACTOMER-HSA-198933
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Initial triggering of complementREACTOMER-HSA-166663
Alternative complement activationREACTOMER-HSA-173736
Activation of C3 and C5REACTOMER-HSA-174577
Regulation of Complement cascadeREACTOMER-HSA-977606
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class A/1 (Rhodopsin-like receptors)REACTOMER-HSA-373076
Peptide ligand-binding receptorsREACTOMER-HSA-375276
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (i) signalling eventsREACTOMER-HSA-418594
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162370415Metabolic SyndromeDiseaseClinicalAnnotationassociatedPD26503818
PA449061clozapineChemicalClinicalAnnotationassociatedPD26503818

References

Pubmed IDYearTitleCitations
176344482007Complement C3 variant and the risk of age-related macular degeneration.331
176344482007Complement C3 variant and the risk of age-related macular degeneration.331
203858192010Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.246
177671562007Variation in complement factor 3 is associated with risk of age-related macular degeneration.189
161777812005Structures of complement component C3 provide insights into the function and evolution of immunity.151
170606302006Complement activation by photooxidation products of A2E, a lipofuscin constituent of the retinal pigment epithelium.127
224566012012Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies.125
195031042009Structure of complement fragment C3b-factor H and implications for host protection by complement regulators.124
185969112008Systemic complement activation in age-related macular degeneration.122
187966262008Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.122

Citation

Dessen P

C3 (complement C3)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/886/c3