Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 731
MIM: 120950
HGNC: 1352
Ensembl: ENSG00000157131
Variants:
dbSNP: 731
ClinVar: 731
TCGA: ENSG00000157131
COSMIC: C8A
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000157131 | ENST00000361249 | P07357 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32769119 | 2020 | A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant Cause of C8α-γ Deficiency in African Americans. | 0 |
| 32769119 | 2020 | A Point Mutation Creating a 3' Splice Site in C8A Is a Predominant Cause of C8α-γ Deficiency in African Americans. | 0 |
| 29532326 | 2018 | Comprehensive Proteoform Characterization of Plasma Complement Component C8αβγ by Hybrid Mass Spectrometry Approaches. | 13 |
| 29532326 | 2018 | Comprehensive Proteoform Characterization of Plasma Complement Component C8αβγ by Hybrid Mass Spectrometry Approaches. | 13 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20406964 | 2010 | Risk of meningioma and common variation in genes related to innate immunity. | 21 |
| 20438785 | 2010 | Polymorphisms in innate immunity genes and risk of childhood leukemia. | 12 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20237496 | 2010 | New genetic associations detected in a host response study to hepatitis B vaccine. | 37 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20406964 | 2010 | Risk of meningioma and common variation in genes related to innate immunity. | 21 |
| 20438785 | 2010 | Polymorphisms in innate immunity genes and risk of childhood leukemia. | 12 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19048311 | 2009 | A 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/c8a-(complement-c8-alpha-chain)
