Gene

C9

Species
Homo sapiens
Symbol
C9
Name
complement C9
Synonyms
  • ARMD15
  • C9D
Biotype
protein coding gene
Automated Description
Involved in cell killing and protein homooligomerization. Located in extracellular space and plasma membrane. Part of membrane attack complex. Implicated in age related macular degeneration 15; complement component 9 deficiency; and opiate dependence. Biomarker of autosomal dominant polycystic kidney disease.
RGD Description
This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR45742
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusC910 of 10YesYes  
Rattus norvegicusC910 of 10YesYes  
Xenopus laevisc9.L1 of 1YesYes           
Xenopus tropicalisc99 of 9YesYes   
Danio rerioc99 of 10YesYes  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
C8A157947284 of 8  
C7252247313 of 8  
C8B352847283 of 8  
C6452746283 of 8  
PRF1543636202 of 8  

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Addictive opioid use
Adult onset
Autosomal dominant inheritance
Decreased circulating complement C9 concentration
Macular degeneration
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume

Alleles and Variants

Genome location
Assembly version
GRCh38
Viewer Help
39.29M39.30M39.31M39.32M39.33M39.34M39.35M39.36M39.37M39.38M39.39M
Allele/Variant Symbol
Allele Synonyms
Category
Variant
Variant type
Molecular consequence
Has Disease Annotations
Has Phenotype Annotations
NC_000005.10:g.39311234A>Tvariant
SNP
  • missense variant
NC_000005.10:g.39311313T>Cvariant
SNP
  • missense variant
NC_000005.10:g.39315859A>Tvariant
SNP
  • synonymous variant
NC_000005.10:g.39315977G>Avariant
SNP
  • missense variant
NC_000005.10:g.39316002C>Tvariant
SNP
  • missense variant
NC_000005.10:g.39331737C>Gvariant
SNP
  • missense variant
NC_000005.10:g.39341127G>Cvariant
SNP
  • intron variant
NC_000005.10:g.39364409A>Cvariant
SNP
  • missense variant
NC_000005.10:g.39342080T>Gvariant
SNP
  • intron variant
NC_000005.10:g.39288707A>Cvariant
SNP
  • intron variant
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Transgenic Alleles

Species
(carrying the transgene)
Allele symbol
Transgenic construct
Expressed components
Knock-down targets
Regulatory regions
Has Disease Annotations
Has Phenotype Annotations
Mus musculusC9em3(C9)Smoc
Drosophila melanogasterHsap\C9UAS.Tag:HA
  • UASt
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Models

No data available

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
39.29M39.30M39.31M39.32M39.33M39.34M39.35M39.36M39.37MENST00000263408.5 (C9)ENST00000467285.1 (C9)ENST00000509186.6 (C9)ENST00000695880.1 (C9)ENST00000695881.1 (C9)ENST00000695882.1 (C9)ENST00000695883.1 (C9)NM_001737.5 (C9)

Sequence Details

Transcript: Mode:
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Expression

Primary Sources
None
Other Sources
Must provide at least one subject
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

15 interactor genes based on 19 annotations
C9 molecule type
Interactor gene
Interactor species
Interactor molecule type
Detection methods
Source
Reference
protein
AGPAT1Homo sapiens
protein
  • affinity chromatography technology
PMID:33961781
protein
ANLNHomo sapiens
protein
  • affinity chromatography technology
PMID:36526897
protein
APOEHomo sapiens
protein
  • affinity chromatography technology
PMID:28514442
protein
APOEHomo sapiens
protein
  • affinity chromatography technology
PMID:33961781
protein
BCAR1Homo sapiens
protein
  • affinity chromatography technology
PMID:33001583
protein
C9Homo sapiens
protein
  • 3D electron microscopy
PMID:30111885
protein
CD59Homo sapiens
protein
  • pull down
PMID:1377690
protein
CD59Homo sapiens
protein
  • pull down
PMID:7523406
protein
CLUHomo sapiens
protein
  • pull down
PMID:8345200
protein
CST6Homo sapiens
protein
  • affinity chromatography technology
PMID:28514442
Showing 1 - 10 of 19 rows
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Genetic Interactions

No data available