• Gene id: 717

Gene Summary

• Gene Symbol: C2   Gene   UCSC   Ensembl
• Aliases: ARMD14, CO2
• Gene name: complement C2
• Alternate names: complement C2, C3/C5 convertase, complement component 2, complement component C2,
• Gene location: 6p21.33 (31897782: 31945673)     Exons: 20     NC_000006.12
• Gene summary(Entrez): 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. D
• OMIM: 300037

Protein Summary

• Protein general information: P06681  
  • Name: Complement C2 (EC 3.4.21.43) (C3/C5 convertase) [Cleaved into: Complement C2b fragment; Complement C2a fragment]
  • Length: 752  
  • Mass: 83268
• Sequence:

  MGPLMVLFCLLFLYPGLADSAPSCPQNVNISGGTFTLSHGWAPGSLLTYSCPQGLYPSPASRLCKSSGQWQTPGA
  TRSLSKAVCKPVRCPAPVSFENGIYTPRLGSYPVGGNVSFECEDGFILRGSPVRQCRPNGMWDGETAVCDNGAGH
  CPNPGISLGAVRTGFRFGHGDKVRYRCSSNLVLTGSSERECQGNGVWSGTEPICRQPYSYDFPEDVAPALGTSFS
  HMLGATNPTQKTKESLGRKIQIQRSGHLNLYLLLDCSQSVSENDFLIFKESASLMVDRIFSFEINVSVAIITFAS
  EPKVLMSVLNDNSRDMTEVISSLENANYKDHENGTGTNTYAALNSVYLMMNNQMRLLGMETMAWQEIRHAIILLT
  DGKSNMGGSPKTAVDHIREILNINQKRNDYLDIYAIGVGKLDVDWRELNELGSKKDGERHAFILQDTKALHQVFE
  HMLDVSKLTDTICGVGNMSANASDQERTPWHVTIKPKSQETCRGALISDQWVLTAAHCFRDGNDHSLWRVNVGDP
  KSQWGKEFLIEKAVISPGFDVFAKKNQGILEFYGDDIALLKLAQKVKMSTHARPICLPCTMEANLALRRPQGSTC
  RDHENELLNKQSVPAHFVALNGSKLNINLKMGVEWTSCAEVVSQEKTMFPNLTDVREVVTDQFLCSGTQEDESPC
  KGESGGAVFLERRFRFFQVGLVSWGLYNPCLGSADKNSRKRAPRSKVPPPRDFHINLFRMQPWLRQHLGDVLNFL
  PL

• Structural information:
  • Protein Domains: (22..8-)
    (/note="Sushi-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (87..14-)
    (/note="Sushi-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (149..20-)
    (/note="Sushi-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (-)
  • Interpro: IPR011360  IPR037568  IPR009003  IPR001314  IPR035976   IPR000436  IPR001254  IPR018114  IPR033116  IPR002035  IPR036465  
  • Prosite: PS50923 PS50240 PS00134 PS00135 PS50234
  • CDD: cd00033 cd00190
  • PDB: 2I6Q 2I6S 2ODP 2ODQ 3ERB
  • PDBsum: 2I6Q 2I6S 2ODP 2ODQ 3ERB
  • STRING: ENSP00000299367
• Other Databases: GeneCards:  C2  Malacards:  C2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004252	serine-type endopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0006956	complement activation	IEA	biological process
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0008236	serine-type peptidase activity	IEA	molecular function
GO:0006958	complement activation, classical pathway	IEA	biological process
GO:0006958	complement activation, classical pathway	TAS	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0006956	complement activation	TAS	biological process
GO:0006956	complement activation	TAS	biological process
GO:0030449	regulation of complement activation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007584	response to nutrient	IEA	biological process
GO:0006956	complement activation	IMP	biological process
GO:2000427	positive regulation of apoptotic cell clearance	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05322	Systemic lupus erythematosus
hsa05150	Staphylococcus aureus infection
hsa04610	Complement and coagulation cascades
hsa05133	Pertussis

Diseases

Associated diseases	References
Age-related macular degeneration	KEGG:H00821
Systemic lupus erythematosus	KEGG:H00080
Age-related macular degeneration	KEGG:H00821
Systemic lupus erythematosus	KEGG:H00080
Classic complement pathway component defects	KEGG:H00102
Alzheimer's disease	PMID:22300950
macular degeneration	PMID:16518403
Psoriasis	PMID:6559061
Systemic lupus erythematosus	PMID:6409476
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881