C2
entrez
717
canonical
uniprot
P06681
canonical
ensembl
ENSG00000166278
resolver
ensembl
ENSG00000204364
resolver
ensembl
ENSG00000206372
resolver
ensembl
ENSG00000226560
resolver
ensembl
ENSG00000231543
resolver
ensembl
ENSG00000235017
resolver
ensembl
ENSG00000235696
resolver
ensp
ENSP00000299367
resolver
ensp
ENSP00000392322
resolver
ensp
ENSP00000395683
resolver
ensp
ENSP00000406190
resolver
ensp
ENSP00000418923
resolver
ensp
ENSP00000447134
resolver
ensp
ENSP00000447458
resolver
ensp
ENSP00000448602
resolver
ensp
ENSP00000449345
resolver
ensp
ENSP00000449366
resolver
ensp
ENSP00000449823
resolver
ensp
ENSP00000449940
resolver
ensp
ENSP00000450180
resolver
ensp
ENSP00000478351
resolver
ensp
ENSP00000482072
resolver
ensp
ENSP00000482188
resolver
ensp
ENSP00000483004
resolver
ensp
ENSP00000512074
resolver
enst
ENST00000418949
resolver
enst
ENST00000469372
resolver
enst
ENST00000547984
resolver
enst
ENST00000548250
resolver
enst
ENST00000548500
resolver
enst
ENST00000548828
resolver
enst
ENST00000549997
resolver
enst
ENST00000550045
resolver
enst
ENST00000550363
resolver
enst
ENST00000552638
resolver
enst
ENST00000613837
resolver
enst
ENST00000614291
resolver
enst
ENST00000615801
resolver
enst
ENST00000618948
resolver
genesymbol
C2
resolver
hgnc
HGNC:1248
resolver
uniprot
A0A0G2JKX2
resolver
uniprot
A0A0G2JL69
resolver
uniprot
B4DPF3
resolver
uniprot
B4DQI1
resolver
uniprot
B4DV20
resolver
uniprot
B4DV48
resolver
uniprot
E9PFN7
resolver
uniprot
F6U7P7
resolver
uniprot
O19694
resolver
uniprot
Q13904
resolver
uniprot
Q53HP3
resolver
uniprot
Q5JP69
resolver
uniprot
Q8N6L6
resolver
uniprot_entry
A0A0G2JKX2_HUMAN
resolver
uniprot_entry
A0A0G2JL69_HUMAN
resolver
uniprot_entry
B4DQI1_HUMAN
resolver
uniprot_entry
B4DV48_HUMAN
resolver
uniprot_entry
CO2_HUMAN
resolver
uniprot_entry
F6U7P7_HUMAN
resolver
uniprot_entry
Q53HP3_HUMAN
resolver
uniprot_entry
Q5JP69_HUMAN
resolver
uniprot_entry
Q8N6L6_HUMAN
resolver
uniprot_sec
B4DPF3
resolver
uniprot_sec
B4DV20
resolver
uniprot_sec
E9PFN7
resolver
uniprot_sec
O19694
resolver
uniprot_sec
Q13904
resolver
amino_acid_sequence
MGPLMVLFCLLFLYPGLADSAPSCPQNVNISGGTFTLSHGWAPGSLLTYSCPQGLYPSPASRLCKSSGQWQTPGATRSLSKAVCKPVRCPAPVSFENGIYTPRLGSYPVGGNVSFECEDGFILRGSPVRQCRPNGMWDGETAVCDNGAGHCPNPGISLGAVRTGFRFGHGDKVRYRCSSNLVLTGSSERECQGNGVWSGTEPICRQPYSYDFPEDVAPALGTSFSHMLGATNPTQKTKESLGRKIQIQRSGHLNLYLLLDCSQSVSENDFLIFKESASLMVDRIFSFEINVSVAIITFASEPKVLMSVLNDNSRDMTEVISSLENANYKDHENGTGTNTYAALNSVYLMMNNQMRLLGMETMAWQEIRHAIILLTDGKSNMGGSPKTAVDHIREILNINQKRNDYLDIYAIGVGKLDVDWRELNELGSKKDGERHAFILQDTKALHQVFEHMLDVSKLTDTICGVGNMSANASDQERTPWHVTIKPKSQETCRGALISDQWVLTAAHCFRDGNDHSLWRVNVGDPKSQWGKEFLIEKAVISPGFDVFAKKNQGILEFYGDDIALLKLAQKVKMSTHARPICLPCTMEANLALRRPQGSTCRDHENELLNKQSVPAHFVALNGSKLNINLKMGVEWTSCAEVVSQEKTMFPNLTDVREVVTDQFLCSGTQEDESPCKGESGGAVFLERRFRFFQVGLVSWGLYNPCLGSADKNSRKRAPRSKVPPPRDFHINLFRMQPWLRQHLGDVLNFLPL
uniprot
proteins
disease_involvement
DISEASE: Macular degeneration, age-related, 14 (ARMD14) [MIM:615489]: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. {ECO:0000269|PubMed:16518403}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry. Haplotype analyses have identified a statistically significant common risk haplotype and two protective haplotypes. CFB variant His-9 and C2 variant Asp-318, as well as CFB variant Gln-32 and a variant in intron 10 of C2, confer a significantly reduced risk of AMD. {ECO:0000269|PubMed:16518403}.; DISEASE: Complement component 2 deficiency (C2D) [MIM:217000]: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency are also reported to have recurrent invasive infections. {ECO:0000269|PubMed:8621452, ECO:0000269|PubMed:9670930}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.4.21.43
uniprot
proteins
function
FUNCTION: Precursor of the catalytic component of the C3 and C5 convertase complexes, which are part of the complement pathway, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:12878586, PubMed:17027507, PubMed:18204047, PubMed:39914456, PubMed:39814882). Component C2 is part of the classical, lectin and GZMK complement systems (PubMed:12878586, PubMed:17027507, PubMed:18204047, PubMed:22691502, PubMed:39914456). {ECO:0000269|PubMed:12878586, ECO:0000269|PubMed:17027507, ECO:0000269|PubMed:18204047, ECO:0000269|PubMed:22691502, ECO:0000269|PubMed:39814882, ECO:0000269|PubMed:39914456}.; FUNCTION: [Serine protease complement C2b]: Catalytic component of the complement C3 and C5 convertase complexes (PubMed:12878586, PubMed:17027507, PubMed:18204047, PubMed:6906228). Following complement activation, recruited to the surface of pathogens by complement C4b opsonin to form the C3 convertase, or C3b and C4b opsonins to form the C5 convertase (PubMed:6611150, PubMed:6906228). As part of the C3 convertase, cleaves and activate C3 into C3a anaphylatoxin and C3b opsonin, the next components of the complement pathways (PubMed:14561755, PubMed:17027507). As part of the C5 convertase, cleaves and activate C5 into C5a anaphylatoxin and C5b component of the membrane attack complex (PubMed:12878586, PubMed:17027507, PubMed:18204047). {ECO:0000269|PubMed:12878586, ECO:0000269|PubMed:14561755, ECO:0000269|PubMed:17027507, ECO:0000269|PubMed:18204047, ECO:0000269|PubMed:6611150, ECO:0000269|PubMed:6906228}.
uniprot
proteins
mass_dalton
83268
uniprot
proteins
mutagenesis
MUTAGEN 261; /note="C->A: Prolonged activity and half-life."; /evidence="ECO:0000269|PubMed:27252379"; MUTAGEN 263; /note="Q->K: Prolonged activity and half-life."; /evidence="ECO:0000269|PubMed:27252379"; MUTAGEN 344; /note="N->A: Promotes partial resistance to degradation, slightly increasing half-life of the protein."; /evidence="ECO:0000269|PubMed:14561755"; MUTAGEN 347; /note="Y->A: Promotes resistance to degradation, increasing half-life of the protein."; /evidence="ECO:0000269|PubMed:14561755"; MUTAGEN 348; /note="L->A: Promotes partial resistance to degradation, slightly increasing half-life of the protein."; /evidence="ECO:0000269|PubMed:14561755
uniprot
proteins
post_translational_modification
PTM: Cleaved and activated by different proteases depending on the complement pathway to generate complement C2a and serine protease complement C2b chains (PubMed:6282646, PubMed:6319179, PubMed:6906228, PubMed:70787). Cleaved and activated by C1S following activation by the classical complement system (PubMed:11527969, PubMed:16169853, PubMed:417728, PubMed:6282646, PubMed:6319179, PubMed:6906228, PubMed:70787, PubMed:9422791). Cleaved and activated by MASP2 following activation by the lectin complement system (PubMed:11527969, PubMed:22691502). Cleaved and activated by GZMK following activation by the GZMK complement system (PubMed:39914456, PubMed:39814882). {ECO:0000269|PubMed:11527969, ECO:0000269|PubMed:16169853, ECO:0000269|PubMed:22691502, ECO:0000269|PubMed:39814882, ECO:0000269|PubMed:39914456, ECO:0000269|PubMed:417728, ECO:0000269|PubMed:6282646, ECO:0000269|PubMed:6319179, ECO:0000269|PubMed:6906228, ECO:0000269|PubMed:70787, ECO:0000269|PubMed:9422791}.
uniprot
proteins
protein_family
Peptidase S1 family
uniprot
proteins
pubmed
10734221
uniprot
proteins
pubmed
11527969
uniprot
proteins
pubmed
12878586
uniprot
proteins
pubmed
14561755
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16169853
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16518403
uniprot
proteins
pubmed
17027507
uniprot
proteins
pubmed
17234210
uniprot
proteins
pubmed
18204047
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19237749
uniprot
proteins
pubmed
22691502
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2493504
uniprot
proteins
pubmed
27252379
uniprot
proteins
pubmed
2949737
uniprot
proteins
pubmed
2997031
uniprot
proteins
pubmed
3643061
uniprot
proteins
pubmed
3874204
uniprot
proteins
pubmed
39814882
uniprot
proteins
pubmed
39914456
uniprot
proteins
pubmed
417728
uniprot
proteins
pubmed
6149575
uniprot
proteins
pubmed
6199794
uniprot
proteins
pubmed
6282646
uniprot
proteins
pubmed
6319179
uniprot
proteins
pubmed
6555044
uniprot
proteins
pubmed
6602833
uniprot
proteins
pubmed
6611150
uniprot
proteins
pubmed
6906228
uniprot
proteins
pubmed
6922702
uniprot
proteins
pubmed
70787
uniprot
proteins
pubmed
8326124
uniprot
proteins
pubmed
8621452
uniprot
proteins
pubmed
9422791
uniprot
proteins
pubmed
9670930
uniprot
proteins
sequence_length
752
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:8621452}. Cell surface {ECO:0000269|PubMed:6602833}. Note=Recruited to the surface of pathogens by complement C3b and complement C4b opsonins. {ECO:0000269|PubMed:6602833}.
uniprot
proteins