C2 (complement C2)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
717
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C2
Synonyms (NCBI Gene) Gene synonyms aliases
ARMD14, CO2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(7)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(41)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
613927 1248 ENSG00000166278
Protein
Gene SNPs Other IDs Associated diseases
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
Sequence length 752
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Complement Component Deficiency complement component 2 deficiency rs9332736 N/A
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Age-related macular degeneration Age related macular degeneration 14 N/A N/A ClinVar
Coronary artery disease Coronary artery disease N/A N/A GWAS
Endometriosis Endometriosis N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Show/Hide Text Mining Associations (38)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 18034892
Alzheimer Disease Associate 9114023
Arthritis Rheumatoid Associate 28774272
Astrocytoma Associate 1445220
Atypical Hemolytic Uremic Syndrome Associate 34899688
Auditory neuropathy Associate 15637703
Autoimmune Diseases Associate 29947342, 36858027
Basal Laminar Drusen Associate 22933840
Behcet Syndrome Associate 29947342
Carcinoma Hepatocellular Associate 32626741