C6 (complement C6)

2014-11-01  

Identity

HGNC
LOCATION
5p13.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 729
MIM: 217050
HGNC: 1339
Ensembl: ENSG00000039537

Variants:

dbSNP: 729
ClinVar: 729
TCGA: ENSG00000039537
COSMIC: C6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000039537ENST00000263413P13671
ENSG00000039537ENST00000337836P13671
ENSG00000039537ENST00000417809C9JC72
ENSG00000039537ENST00000433294C9JX36

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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Terminal pathway of complementREACTOMER-HSA-166665
Regulation of Complement cascadeREACTOMER-HSA-977606

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447247liver transplantationDiseaseClinicalAnnotation, VariantAnnotationambiguousPK
PA451578tacrolimusChemicalClinicalAnnotation, VariantAnnotationambiguousPK

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
188422942008Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.65
191620052009Response gene to complement 32 is required for C5b-9 induced cell cycle activation in endothelial cells.30
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
222677372012Structure of complement C6 suggests a mechanism for initiation and unidirectional, sequential assembly of membrane attack complex (MAC).27
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
204596872010Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring.15
225000232012Crystal structure of C5b-6 suggests structural basis for priming assembly of the membrane attack complex.15
196652372009Complement production by trophoblast cells at the feto-maternal interface.12
204069642010Risk of meningioma and common variation in genes related to innate immunity.12

Citation

Dessen P

C6 (complement C6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61230/c6