C8B (complement C8 beta chain)

2014-11-01  

Identity

HGNC
LOCATION
1p32.2
LOCUSID
ALIAS
C82
FUSION GENES

Other Information

Locus ID:

NCBI: 732
MIM: 120960
HGNC: 1353
Ensembl: ENSG00000021852

Variants:

dbSNP: 732
ClinVar: 732
TCGA: ENSG00000021852
COSMIC: C8B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000021852ENST00000371237P07358
ENSG00000021852ENST00000535057F5GY80
ENSG00000021852ENST00000543257F5H7G1

Expression (GTEx)

0
50
100
150
200
250
300

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
295323262018Comprehensive Proteoform Characterization of Plasma Complement Component C8αβγ by Hybrid Mass Spectrometry Approaches.13
295323262018Comprehensive Proteoform Characterization of Plasma Complement Component C8αβγ by Hybrid Mass Spectrometry Approaches.13
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
191620052009Response gene to complement 32 is required for C5b-9 induced cell cycle activation in endothelial cells.37
193444142009Risk of non-Hodgkin lymphoma in association with germline variation in complement genes.9
194235402009Common variation in genes related to innate immunity and risk of adult glioma.35
198640262009Involvement of the c-jun N-terminal kinases JNK1 and JNK2 in complement-mediated cell death.13
191620052009Response gene to complement 32 is required for C5b-9 induced cell cycle activation in endothelial cells.37
193444142009Risk of non-Hodgkin lymphoma in association with germline variation in complement genes.9
194235402009Common variation in genes related to innate immunity and risk of adult glioma.35

Citation

Dessen P

C8B (complement C8 beta chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61278/c8b-(complement-c8-beta-chain)