Entity Details

Primary name C9
Entity type gene
Source Source Link

Details

PrimaryID735
RefseqGeneNG_009894
SymbolC9
Namecomplement C9
Chromosome5
Location5p13.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCO9_HUMAN

GO terms

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GOName
GO:0001906 cell killing
GO:0005576 extracellular region
GO:0005579 membrane attack complex
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0006956 complement activation
GO:0006957 complement activation, alternative pathway
GO:0006958 complement activation, classical pathway
GO:0019835 cytolysis
GO:0030449 regulation of complement activation
GO:0044218 other organism cell membrane
GO:0051260 protein homooligomerization
GO:0070062 extracellular exosome
GO:0072562 blood microparticle

Diseases

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Disease IDSourceNameDescription
615591 OMIMMacular degeneration, age-related, 15 (ARMD15)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. Disease susceptibility is associated with variants affecting the gene represented in this entry.
613825 OMIMComplement component 9 deficiency (C9D)A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

11 interactions

InteractorPartnerSourcesPublicationsLink
C9SOD1IntAct32814053 details
C9CLUBioGRID, HPRD8345200 details
C9CD59BioGRID, HPRD1377690 7523406 details
C9LAMTOR5BioGRID23241634 details
C9C8AHPRD3624872 4063341 details
C9CST6BioGRID, IntAct28514442 details
C9APOEBioGRID, IntAct28514442 details
C9MPOIntAct24355864 details
C9C5IntAct26841837 30552328 details
C9FN1BioGRID23750785 details
C9BCAR1BioGRID33001583 details