C8A (complement C8 alpha chain)

2014-11-01  

Identity

HGNC
C8A
LOCATION
1p32.2
LOCUSID
731
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 731
MIM: 120950
HGNC: 1352
Ensembl: ENSG00000157131

Variants:

dbSNP: 731
ClinVar: 731
TCGA: ENSG00000157131
COSMIC: C8A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157131ENST00000361249P07357

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

References

Pubmed IDYearTitleCitations
327691192020A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant Cause of C8α-γ Deficiency in African Americans.0
327691192020A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant Cause of C8α-γ Deficiency in African Americans.0
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
204069642010Risk of meningioma and common variation in genes related to innate immunity.21
204387852010Polymorphisms in innate immunity genes and risk of childhood leukemia.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
190483112009A disulfide linked model of the complement protein C8gamma complexed with C8alpha indel peptide.0

Citation

Dessen P

C8A (complement C8 alpha chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61277/haematological-explorer/favicon/favicon-32x32.png