C5 (complement C5)

2009-05-01  

Identity

HGNC
LOCATION
9q33.2
LOCUSID
ALIAS
C5D,C5a,C5b,CPAMD4,ECLZB
FUSION GENES

Other Information

Locus ID:

NCBI: 727
MIM: 120900
HGNC: 1331
Ensembl: ENSG00000106804

Variants:

dbSNP: 727
ClinVar: 727
TCGA: ENSG00000106804
COSMIC: C5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106804ENST00000223642P01031

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Systemic lupus erythematosusKEGGko05322
Complement and coagulation cascadesKEGGhsa04610
Systemic lupus erythematosusKEGGhsa05322
Prion diseasesKEGGko05020
Prion diseasesKEGGhsa05020
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
PertussisKEGGko05133
PertussisKEGGhsa05133
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Activation of C3 and C5REACTOMER-HSA-174577
Terminal pathway of complementREACTOMER-HSA-166665
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164776637eculizumabChemicalClinicalAnnotationassociatedPD24521109

References

Pubmed IDYearTitleCitations
178048362007TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.333
176344482007Complement C3 variant and the risk of age-related macular degeneration.331
177034122007Genetic susceptibility to respiratory syncytial virus bronchiolitis is predominantly associated with innate immune genes.100
124884322002C5a anaphylatoxin is a major regulator of activating versus inhibitory FcgammaRs in immune complex-induced lung disease.90
178802612007A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis.87
178802612007A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis.87
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
230280512012Anaphylatoxin C5a creates a favorable microenvironment for lung cancer progression.84
191105362009Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus.82
173229072007C5L2 is critical for the biological activities of the anaphylatoxins C5a and C3a.80

Citation

Dessen P

C5 (complement C5)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50864/c5