Homo sapiens Gene: C2
Summary
InnateDB Gene IDBG-124824.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol C2
Gene Name complement component 2
Synonyms ARMD14; CO2;
Species Homo sapiens
Ensembl Gene ENSG00000166278
Encoded Proteins
complement component 2
complement component 2
complement component 2
complement component 2
complement component 2
complement component 2
complement component 2
complement component 2
complement component 2
complement component 2
complement component 2
complement component 2
complement component 2
complement component 2
complement component 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
Staphylococcus aureus extracellular adherence protein (Eap) binds to C4B to inhibit binding of both full-length C2 and its C2b fragment, disrupting the formation of the C3 proconvertase (C4b2) and significantly diminishing the extent of S. aureus opsonophagocytosis and killing by neutrophils.
Complement interfering protein (CIP) of group B Streptococcus (GBS) shows high affinity toward C4B and inhibits its interaction with C2, presumably preventing the formation of the C4BC2A convertase and GBS phagocytic killing in the absence of anti-GBS antibodies.
Entrez Gene
Summary Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:31897785-31945672
Strand Forward strand
Band p21.33
Transcripts
ENST00000299367 ENSP00000299367
ENST00000383177 ENSP00000372664
ENST00000411571 ENSP00000388727
ENST00000452202 ENSP00000406121
ENST00000452323 ENSP00000392322
ENST00000413154 ENSP00000403325
ENST00000447952 ENSP00000391354
ENST00000442278 ENSP00000395683
ENST00000418949 ENSP00000406190
ENST00000469372 ENSP00000418923
ENST00000497706 ENSP00000417482
ENST00000484636 ENSP00000420305
ENST00000482060 ENSP00000418332
ENST00000494905 ENSP00000419048
ENST00000485690 ENSP00000417790
ENST00000486124
ENST00000468407
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
Experimentally validated
Total 8 [view]
Protein-Protein 5 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
Biological Process
GO:0006508 proteolysis
GO:0006956 complement activation
GO:0006958 complement activation, classical pathway
GO:0007584 response to nutrient
GO:0030449 regulation of complement activation
GO:0045087 innate immune response (InnateDB)
GO:2000427 positive regulation of apoptotic cell clearance
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Innate Immune System pathway
Immune System pathway
Activation of C3 and C5 pathway
Regulation of Complement cascade pathway
Complement cascade pathway
Initial triggering of complement pathway
KEGG
Complement and coagulation cascades pathway
Staphylococcus aureus infection pathway
Systemic lupus erythematosus pathway
INOH
PID BIOCARTA
Classical complement pathway [Biocarta view]
Lectin induced complement pathway [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL Q5ST52
UniProt Splice Variant
Entrez Gene 717
UniGene Hs.408903
RefSeq NM_000063 NM_001145903 NM_001178063 NM_001282457 NM_001282458 NM_001282459
HUGO HGNC:1248
OMIM 613927
CCDS CCDS4728 CCDS54991 CCDS56416 CCDS75427 CCDS75428
HPRD 08939
IMGT
EMBL AL645922 AL671762
GenPept
RNA Seq Atlas 101928623 717