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Gene : C2 Homo sapiens

Name  ? complement C2 Cytological Location  6p21.33
Brief Description  complement C2
Description  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]
  • synonyms:
  • uc003nyf.5,
  • HGNC:1248,
  • complement component 2,
  • ARMD14,
  • C2,
  • CO2,
  • NM_000063,
  • OTTHUMG00000031190
  • identifiers:
  • 717,
  • ENSG00000166278,
  • C2

Genome feature

Region: gene ? Length: 47890  
Location: 6:31897783-31945672 Cyto location: 6p21.33


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Other

3740 SN Ps

5 Cross References

17 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results