C2 (complement C2)

2019-08-01  

Identity

HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
ARMD14,CO2

Other Information

Locus ID:

NCBI: 717
MIM: 613927
HGNC: 1248
Ensembl: ENSG00000166278

Variants:

dbSNP: 717
ClinVar: 717
TCGA: ENSG00000166278
COSMIC: C2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166278ENST00000299367P06681
ENSG00000166278ENST00000299367Q5JP69
ENSG00000166278ENST00000383177H0Y3H6
ENSG00000166278ENST00000411571F2Z306
ENSG00000166278ENST00000413154Q5ST52
ENSG00000166278ENST00000418949Q8N6L6
ENSG00000166278ENST00000442278P06681
ENSG00000166278ENST00000447952F2Z3N2
ENSG00000166278ENST00000452202A2ABG0
ENSG00000166278ENST00000452323P06681
ENSG00000166278ENST00000469372B4DQI1
ENSG00000166278ENST00000482060F8WCJ9
ENSG00000166278ENST00000484636F2Z306
ENSG00000166278ENST00000485690H0Y868
ENSG00000166278ENST00000494905C9JYQ5
ENSG00000166278ENST00000497706E9PDZ0

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Complement and coagulation cascadesKEGGko04610
Systemic lupus erythematosusKEGGko05322
Complement and coagulation cascadesKEGGhsa04610
Systemic lupus erythematosusKEGGhsa05322
Staphylococcus aureus infectionKEGGko05150
Staphylococcus aureus infectionKEGGhsa05150
PertussisKEGGko05133
PertussisKEGGhsa05133
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Complement cascadeREACTOMER-HSA-166658
Initial triggering of complementREACTOMER-HSA-166663
Activation of C3 and C5REACTOMER-HSA-174577
Regulation of Complement cascadeREACTOMER-HSA-977606

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
165184032006Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration.412
203858192010Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.246
191179362009Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables.121
191973552009Interpretation of genetic association studies: markers with replicated highly significant odds ratios may be poor classifiers.111
196612362009Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.107
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
202055912010Host determinants of HIV-1 control in African Americans.80
175767442007Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration.69
166707742006Mannan-binding lectin activates C3 and the alternative complement pathway without involvement of C2.56
208884822010Serum lipid biomarkers and hepatic lipase gene associations with age-related macular degeneration.55

Citation

Dessen P

C2 (complement C2)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58120/c2