C2 (complement C2)

Gene

• Entrez ID: 717
• Gene name: Complement C2
• Gene symbol: C2
• Synonyms (NCBI Gene): ARMD14, CO2
• Chromosome: 6
• Chromosome location: 6p21.33
• 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. D

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017726	hsa-miR-335-5p	Microarray	18185580
MIRT017726	hsa-miR-335-5p	Microarray	18185580
MIRT021561	hsa-miR-142-3p	Microarray	17612493
MIRT2188317	hsa-miR-1827	CLIP-seq
MIRT2188318	hsa-miR-1910	CLIP-seq
MIRT2188319	hsa-miR-2682	CLIP-seq
MIRT2188320	hsa-miR-449c	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001867	Process	Complement activation, lectin pathway	IDA	18204047, 22691502
GO:0001905	Process	Activation of membrane attack complex	IDA	18204047
GO:0001905	Process	Activation of membrane attack complex	IDA	18204047
GO:0002376	Process	Immune system process	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	6611150, 6906228, 12878586, 14561755, 17027507, 18204047
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	25910212, 28742139, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005601	Component	Classical-complement-pathway C3/C5 convertase complex	IDA	3874204, 6611150, 6906228, 12878586, 14561755, 18204047, 27252379
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	TAS	8621452
GO:0006508	Process	Proteolysis	IEA
GO:0006956	Process	Complement activation	IBA
GO:0006956	Process	Complement activation	IDA	26841934, 30111885, 37852260
GO:0006956	Process	Complement activation	IDA	17027507
GO:0006956	Process	Complement activation	IEA
GO:0006956	Process	Complement activation	IMP	19302245
GO:0006958	Process	Complement activation, classical pathway	IDA	3897448
GO:0006958	Process	Complement activation, classical pathway	IDA	6611150, 6906228, 12878586, 18204047
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0006958	Process	Complement activation, classical pathway	TAS	8621452
GO:0007584	Process	Response to nutrient	IEA
GO:0008228	Process	Opsonization	IDA	3897448
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009617	Process	Response to bacterium	IBA
GO:0009986	Component	Cell surface	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031640	Process	Killing of cells of another organism	IDA	30552328
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051604	Process	Protein maturation	IDA	18204047
GO:0051604	Process	Protein maturation	IDA	6906228, 18204047
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0097066	Process	Response to thyroid hormone	IEA
GO:0106139	Component	Symbiont cell surface	IDA	6602833
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:0160257	Process	Complement activation, GZMK pathway	IDA	39914456
GO:2000427	Process	Positive regulation of apoptotic cell clearance	IMP	19302245

Other IDs

• MIM: 613927
• HGNC: 1248
• e!Ensembl: ENSG00000166278

Protein

• UniProt ID: P06681
• Protein name: Complement C2 (C3/C5 convertase) [Cleaved into: Complement C2a; Serine protease complement C2b (EC 3.4.21.43)]
• Protein 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
• PDB: 2I6Q, 2I6S, 2ODP, 2ODQ, 3ERB, 8ACF, 8ACI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	89 → 144	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	151 → 204	Sushi repeat (SCR repeat)	Domain
  PF00092	VWA	254 → 451	von Willebrand factor type A domain	Domain
  PF00089	Trypsin	466 → 711	Trypsin	Domain

• Sequence:

  MGPLMVLFCLLFLYPGLADSAPSCPQNVNISGGTFTLSHGWAPGSLLTYSCPQGLYPSPA
  SRLCKSSGQWQTPGATRSLSKAVCKPVRCPAPVSFENGIYTPRLGSYPVGGNVSFECEDG
  FILRGSPVRQCRPNGMWDGETAVCDNGAGHCPNPGISLGAVRTGFRFGHGDKVRYRCSSN
  LVLTGSSERECQGNGVWSGTEPICRQPYSYDFPEDVAPALGTSFSHMLGATNPTQKTKES
  LGRKIQIQRSGHLNLYLLLDCSQSVSENDFLIFKESASLMVDRIFSFEINVSVAIITFAS
  EPKVLMSVLNDNSRDMTEVISSLENANYKDHENGTGTNTYAALNSVYLMMNNQMRLLGME
  TMAWQEIRHAIILLTDGKSNMGGSPKTAVDHIREILNINQKRNDYLDIYAIGVGKLDVDW
  RELNELGSKKDGERHAFILQDTKALHQVFEHMLDVSKLTDTICGVGNMSANASDQERTPW
  HVTIKPKSQETCRGALISDQWVLTAAHCFRDGNDHSLWRVNVGDPKSQWGKEFLIEKAVI
  SPGFDVFAKKNQGILEFYGDDIALLKLAQKVKMSTHARPICLPCTMEANLALRRPQGSTC
  RDHENELLNKQSVPAHFVALNGSKLNINLKMGVEWTSCAEVVSQEKTMFPNLTDVREVVT
  DQFLCSGTQEDESPCKGESGGAVFLERRFRFFQVGLVSWGLYNPCLGSADKNSRKRAPRS
  KVPPPRDFHINLFRMQPWLRQHLGDVLNFLPL

• Sequence length: 752

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Age related macular degeneration 14	Likely pathogenic; Pathogenic	rs9332736	RCV002477141	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C2 deficiency, type I	Likely pathogenic; Pathogenic	rs9332736	RCV002264641	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C2 deficiency, type II	Pathogenic	rs28934590	RCV000012911	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
C2-related disorder	Likely pathogenic; Pathogenic	rs9332736	RCV003387742	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Likely pathogenic	rs2482630361	RCV005930290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Complement component 2 deficiency	Pathogenic; Likely pathogenic	rs770780241, rs9332736, rs1770220135	RCV005863756 RCV000169652 RCV001169995	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs9332736	RCV005867829	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of esophagus	Likely pathogenic; Pathogenic	rs9332736	RCV005867830	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
C1 ESTERASE INHIBITOR C1-INH DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC INTERSTITIAL CYSTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSICAL COMPLEMENT PATHWAY ABNORMALITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT DEFICIENCIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, IRRITANT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOMYOSITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular degeneration	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MACULAR DEGENERATION, AGE-RELATED, 14	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations