C9 (complement C9)

2010-03-01  

Identity

HGNC
LOCATION
5p13.1
LOCUSID
ALIAS
ARMD15,C9D
FUSION GENES

Other Information

Locus ID:

NCBI: 735
MIM: 120940
HGNC: 1358
Ensembl: ENSG00000113600

Variants:

dbSNP: 735
ClinVar: 735
TCGA: ENSG00000113600
COSMIC: C9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113600ENST00000263408P02748

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Systemic lupus erythematosusKEGGko05322
Complement and coagulation cascadesKEGGhsa04610
Systemic lupus erythematosusKEGGhsa05322
Prion diseasesKEGGko05020
Prion diseasesKEGGhsa05020
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
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

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
176445162007Live cell imaging of outward and inward vesiculation induced by the complement c5b-9 complex.35
168446902006Defining the CD59-C9 binding interaction.34
201392762010Complement component C3 binds to activated normal platelets without preceding proteolytic activation and promotes binding to complement receptor 1.33
239437622013CspA from Borrelia burgdorferi inhibits the terminal complement pathway.32
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
215079372011Mapping the intermedilysin-human CD59 receptor interface reveals a deep correspondence with the binding site on CD59 for complement binding proteins C8alpha and C9.26
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19

Citation

Dessen P

C9 (complement C9)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51369/c9