Free for academic non-profit institutions. Other users need a Commercial license

Aliases for C9 Gene

Aliases for C9 Gene

  • Complement C9 2 3 5
  • Complement Component 9 2 3
  • Complement Component C9 3
  • ARMD15 3
  • C9D 3

External Ids for C9 Gene

Previous GeneCards Identifiers for C9 Gene

  • GC05M039463
  • GC05M040377
  • GC05M039284
  • GC05M039330

Summaries for C9 Gene

Entrez Gene Summary for C9 Gene

  • 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 Summary for C9 Gene

C9 (Complement C9) is a Protein Coding gene. Diseases associated with C9 include C9 Deficiency and Macular Degeneration, Age-Related, 15. Among its related pathways are Immune System and Complement Pathway. An important paralog of this gene is C8A.

UniProtKB/Swiss-Prot for C9 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9 Gene

Genomics for C9 Gene

Regulatory Elements for C9 Gene

Enhancers for C9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F039533 0.4 ENCODE 12.1 -109.3 -109303 2.2 DAB2 C9 LINC02104 CCDC11P1
GH05F039394 1.4 FANTOM5 Ensembl ENCODE 12 +26.1 26054 9.2 ATF1 ARNT ZFP64 SIN3A BRCA1 ZNF766 FOS DEK JUNB NCOA1 C9 DAB2 FYB
GH05F039498 0.4 Ensembl 11.6 -73.6 -73633 0.6 HDAC1 ESRRA LEF1 ATF1 PKNOX1 JUN CEBPG FOSL1 ZNF766 GATA2 DAB2 C9 LINC02104
GH05F039493 0.5 Ensembl ENCODE 11.6 -69.7 -69704 1.4 CEBPB MAFG EP300 MAFF ZNF316 FOXP2 MAFK EMSY DAB2 C9 LINC02104
GH05F039500 0.8 Ensembl ENCODE 11.6 -77.2 -77236 4.2 STAT1 MAX CEBPB SIN3A ELF1 CEBPG SUPT20H RAD21 JUND SCRT2 DAB2 C9 LINC02104
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C9 on UCSC Golden Path with GeneCards custom track

Promoters for C9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001278697 768 4201 PKNOX1 CREB3L1 ARID4B SIN3A ZNF143 KLF13 DEK ZNF263 SP3 SP5

Genomic Location for C9 Gene

39,284,262 bp from pter
39,424,868 bp from pter
140,607 bases
Minus strand

Genomic View for C9 Gene

Genes around C9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9 Gene

Proteins for C9 Gene

  • Protein details for C9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Complement component C9
    Protein Accession:

    Protein attributes for C9 Gene

    559 amino acids
    Molecular mass:
    63173 Da
    Quaternary structure:
    • Component of the membrane attack complex (MAC). MAC assembly is initiated by proteolytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and multiple copies of the pore-forming subunit C9.

    Three dimensional structures from OCA and Proteopedia for C9 Gene

neXtProt entry for C9 Gene

Post-translational modifications for C9 Gene

  • Phosphorylation sites are present in the extracellular medium.
  • Thrombin cleaves factor C9 to produce C9a and C9b.
  • Glycosylation at Trp 48, Trp 51, Asn 277, and Asn 415
  • Modification sites at PhosphoSitePlus

Other Protein References for C9 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for C9 (Complement Component C9)

No data available for DME Specific Peptides for C9 Gene

Domains & Families for C9 Gene

Gene Families for C9 Gene

Suggested Antigen Peptide Sequences for C9 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 EGF-like domain.
  • Belongs to the complement C6/C7/C8/C9 family.
  • Contains 1 EGF-like domain.
  • Contains 1 LDL-receptor class A domain.
  • Contains 1 MACPF domain.
  • Contains 1 TSP type-1 domain.
  • Belongs to the complement C6/C7/C8/C9 family.
genes like me logo Genes that share domains with C9: view

Function for C9 Gene

Molecular function for C9 Gene

GENATLAS Biochemistry:
complement component 9,alpha-2 globulin 4.S,forming transmembrane channels,highly homologous to perforin,complexing with other late components of the cascade to form the membrane attack complex
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with C9: view

Human Phenotype Ontology for C9 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C9 Gene

MGI Knock Outs for C9:
  • C9 tm1.1(KOMP)Vlcg

Animal Model Products

  • Taconic Biosciences Mouse Models for C9

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for C9 Gene

Localization for C9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9 Gene

Secreted. Cell membrane; Multi-pass membrane protein. Note=Secreted as soluble monomer. Oligomerizes at target membranes, forming a pre-pore. A conformation change then leads to the formation of a 100 Angstrom diameter pore.

Subcellular locations from

Jensen Localization Image for C9 Gene COMPARTMENTS Subcellular localization image for C9 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for C9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005579 membrane attack complex IEA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IEA,IDA --
GO:0005887 integral component of plasma membrane TAS 2426252
genes like me logo Genes that share ontologies with C9: view

Pathways & Interactions for C9 Gene

genes like me logo Genes that share pathways with C9: view

Gene Ontology (GO) - Biological Process for C9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response IEA --
GO:0006957 complement activation, alternative pathway IEA --
GO:0006958 complement activation, classical pathway IEA --
GO:0019835 cytolysis IEA --
GO:0019836 hemolysis by symbiont of host erythrocytes TAS 2426252
genes like me logo Genes that share ontologies with C9: view

No data available for SIGNOR curated interactions for C9 Gene

Transcripts for C9 Gene

Unigene Clusters for C9 Gene

Complement component 9:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9 Gene

No ASD Table

Relevant External Links for C9 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C9 Gene

mRNA expression in normal human tissues for C9 Gene

mRNA differential expression in normal tissues according to GTEx for C9 Gene

This gene is overexpressed in Liver (x52.6).

Protein differential expression in normal tissues from HIPED for C9 Gene

This gene is overexpressed in Synovial fluid (19.3), Serum (11.5), and Plasma (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for C9 Gene

Protein tissue co-expression partners for C9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C9 Gene:


SOURCE GeneReport for Unigene cluster for C9 Gene:


mRNA Expression by UniProt/SwissProt for C9 Gene:

Tissue specificity: Plasma.
genes like me logo Genes that share expression patterns with C9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for C9 Gene

Orthologs for C9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C9 34 35
  • 99.4 (n)
(Canis familiaris)
Mammalia C9 34 35
  • 79.72 (n)
(Bos Taurus)
Mammalia C9 34 35
  • 77.72 (n)
(Rattus norvegicus)
Mammalia C9 34
  • 76 (n)
(Mus musculus)
Mammalia C9 34 16 35
  • 72.4 (n)
(Monodelphis domestica)
Mammalia C9 35
  • 55 (a)
(Ornithorhynchus anatinus)
Mammalia C9 35
  • 55 (a)
(Anolis carolinensis)
Reptilia C9 35
  • 43 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c9 34
  • 55.49 (n)
Str.6221 34
African clawed frog
(Xenopus laevis)
Amphibia MGC64276 34
(Danio rerio)
Actinopterygii c9 35
  • 32 (a)
-- 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
-- 35
  • 29 (a)
-- 35
  • 27 (a)
-- 35
  • 27 (a)
-- 35
  • 25 (a)
-- 35
  • 23 (a)
Species where no ortholog for C9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C9 Gene

Gene Tree for C9 (if available)
Gene Tree for C9 (if available)

Paralogs for C9 Gene

Paralogs for C9 Gene

(2) SIMAP similar genes for C9 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with C9: view

Variants for C9 Gene

Sequence variations from dbSNP and Humsavar for C9 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs121909593 Complement component 9 deficiency (C9D) [MIM:613825], Pathogenic 39,341,267(-) TTCGG(G/T)GTAAT reference, missense
rs34882957 Macular degeneration, age-related, 15 (ARMD15) [MIM:615591], other 39,331,792(+) TAGGG(A/G)ATCCA reference, missense
rs121909592 Pathogenic 39,341,276(-) AGATG(C/T)GACTT reference, stop-gained
rs121909594 Pathogenic 39,306,753(-) TGTTT(C/G)ACTCA reference, stop-gained
rs34000044 Pathogenic 39,342,112(-) CAATG(A/C/T)GATCC reference, synonymous-codon, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for C9 Gene

Variant ID Type Subtype PubMed ID
esv1241962 CNV insertion 17803354
esv2669707 CNV deletion 23128226
esv3326122 CNV insertion 20981092
esv3389789 CNV insertion 20981092
esv3443404 CNV insertion 20981092
esv3604783 CNV gain 21293372
esv3604786 CNV loss 21293372
esv3604787 CNV loss 21293372
nsv516263 CNV loss 19592680
nsv597860 CNV gain 21841781

Variation tolerance for C9 Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.72; 57.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9 Gene

Disorders for C9 Gene

MalaCards: The human disease database

(8) MalaCards diseases for C9 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
c9 deficiency
  • complement component 9 deficiency
macular degeneration, age-related, 15
  • age related macular degeneration 15
immunodeficiency due to a late component of complement deficiency
  • deficiency of complement of terminal pathway
meningococcal meningitis
  • meningitis meningococcal
primary amebic meningoencephalitis
  • naegleria fowleri infection
- elite association - COSMIC cancer census association via MalaCards
Search C9 in MalaCards View complete list of genes associated with diseases


  • Complement component 9 deficiency (C9D) [MIM:613825]: 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. {ECO:0000269 PubMed:9634479}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Macular degeneration, age-related, 15 (ARMD15) [MIM:615591]: 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. {ECO:0000269 PubMed:24036952}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Genatlas disease for C9 Gene

C9 deficiency with rare episodes of neisserial or meningococcal meningitis

Relevant External Links for C9

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with C9: view

Publications for C9 Gene

  1. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  2. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. (PMID: 19344414) Cerhan J.R. … Slager S.L. (Br. J. Haematol. 2009) 3 46 64
  5. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. (PMID: 18842294) Ennis S. … Lotery A. (Lancet 2008) 3 46 64

Products for C9 Gene

Sources for C9 Gene

Loading form....