C8B (complement C8 beta chain)

2014-11-01  

Identity

HGNC
C8B
LOCATION
1p32.2
LOCUSID
732
ALIAS
C82
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
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
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
198640262009Involvement of the c-jun N-terminal kinases JNK1 and JNK2 in complement-mediated cell death.9
193444142009Risk of non-Hodgkin lymphoma in association with germline variation in complement genes.8
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.5

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)