C8G (complement C8 gamma chain)

2014-11-01  

Identity

HGNC
LOCATION
9q34.3
LOCUSID
ALIAS
C8C

Other Information

Locus ID:

NCBI: 733
MIM: 120930
HGNC: 1354
Ensembl: ENSG00000176919

Variants:

dbSNP: 733
ClinVar: 733
TCGA: ENSG00000176919
COSMIC: C8G

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000176919ENST00000371634P07360
ENSG00000176919ENST00000484376A0A3B3ITY0
ENSG00000176919ENST00000649480A0A3B3ITK5

Expression (GTEx)

0
50
100
150
200
250
300
350
400

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
184405552008Crystal structure of the MACPF domain of human complement protein C8 alpha in complex with the C8 gamma subunit.31
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
204069642010Risk of meningioma and common variation in genes related to innate immunity.12
124136962002Role of the human C8 subunits in complement-mediated bacterial killing: evidence that C8 gamma is not essential.10
166181172006Functional studies of the MACPF domain of human complement protein C8alpha reveal sites for simultaneous binding of C8beta, C8gamma, and C9.9
174520332007Structural features of the ligand binding site on human complement protein C8gamma: a member of the lipocalin family.5
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.5
295323262018Comprehensive Proteoform Characterization of Plasma Complement Component C8αβγ by Hybrid Mass Spectrometry Approaches.5
122201912002Interaction between the C8 alpha-gamma and C8 beta subunits of human complement C8: role of the C8 beta N-terminal thrombospondin type 1 module and membrane attack complex/perforin domain.3
169355772006Binding of the lipocalin C8gamma to human complement protein C8alpha is mediated by loops located at the entrance to the C8gamma ligand binding site.0

Citation

Dessen P

C8G (complement C8 gamma chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61279/c8g