C8A (complement C8 alpha chain)

2014-11-01 Affiliation

Identity

HGNC

C8A

LOCATION

1p32.2

LOCUSID

731

ALIAS

FUSION GENES

Show Gene Fusions

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)

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

Pathway	Source	External ID
Complement and coagulation cascades	KEGG	ko04610
Systemic lupus erythematosus	KEGG	ko05322
Complement and coagulation cascades	KEGG	hsa04610
Systemic lupus erythematosus	KEGG	hsa05322
Prion diseases	KEGG	ko05020
Prion diseases	KEGG	hsa05020
Amoebiasis	KEGG	ko05146
Amoebiasis	KEGG	hsa05146
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Complement cascade	REACTOME	R-HSA-166658
Terminal pathway of complement	REACTOME	R-HSA-166665
Regulation of Complement cascade	REACTOME	R-HSA-977606

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
17872444	2007	Structure of C8alpha-MACPF reveals mechanism of membrane attack in complement immune defense.	81
18842294	2008	Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study.	65
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18440555	2008	Crystal structure of the MACPF domain of human complement protein C8 alpha in complex with the C8 gamma subunit.	31
20237496	2010	New genetic associations detected in a host response study to hepatitis B vaccine.	27
19423540	2009	Common variation in genes related to innate immunity and risk of adult glioma.	19
20406964	2010	Risk of meningioma and common variation in genes related to innate immunity.	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.	11
12413696	2002	Role of the human C8 subunits in complement-mediated bacterial killing: evidence that C8 gamma is not essential.	10

Citation

Dessen P

C8A (complement C8 alpha chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61277/c8a