C9

Gene Information
 
Gene Symbol
C9
 
Aliases
ARMD15D, C9
 
Entrez Gene ID
735
 
Gene Name
Complement component 9
 
Chromosomal Location
5p14-p12
 
HGNC ID
 
Summary
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)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0019836 Biological process Hemolysis by symbiont of host erythrocytes TAS 2426252
GO:0005887 Cellular component Integral component of plasma membrane TAS 2426252
GO:0070062 Cellular component Extracellular vesicular exosome IDA 19056867
Protein Information
 
Protein Name
C9D , complement component C9 , complement component 9, ARMD15
 
Function
Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C9 is the pore-forming subunit of the MAC.
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00057 Ldl_recept_a
PF01823 MACPF
PF00090 TSP_1
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Polycystic ovary syndrome (PCOS) 24106282
   
References
 
Primary:

Cross-ethnic meta-analysis of genetic variants for polycystic ovary syndrome.

Louwers Yvonne V, Stolk Lisette, Uitterlinden Andre G, Laven Joop S E
MD, Department of Gynecology and Obstetrics, Room Na-1524, Erasmus MC, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands. y.louwers@erasmusmc.nl.
J Clin Endocrinol Metab. 2013 Dec;98(12):E2006-12. doi: 10.1210/jc.2013-2495.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
LHCGR, THADA, DENND1A, FSHR, YAP1, RAB5B/SUOX, HMGA2, TOX3, INSR, SUMO1P1 
 
rs4385527, c9orf3 
Rotterdam criteria 
Direct 
703 Dutch PCOS patients and 2164 Dutch controls 
This study identifies 12 genetic variants mapping to the Chinese PCOS loci similar effect size and identical direction in PCOS patients from Northern European ancestry, indicating a common genetic risk profile for PCOS across populations 

 

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