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Aliases for C9 Gene

Aliases for C9 Gene

  • Complement Component 9 2 3 5
  • 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 Component 9) is a Protein Coding gene. Diseases associated with C9 include c9 deficiency and macular degeneration, age-related, 15. Among its related pathways are Complement and coagulation cascades and Immune System. An important paralog of this gene is C6.

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

Promoters for C9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C9 on UCSC Golden Path with GeneCards custom track

Genomic Location for C9 Gene

Chromosome:
5
Start:
39,284,262 bp from pter
End:
39,424,868 bp from pter
Size:
140,607 bases
Orientation:
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:
    P02748-CO9_HUMAN
    Recommended name:
    Complement component C9
    Protein Accession:
    P02748

    Protein attributes for C9 Gene

    Size:
    559 amino acids
    Molecular mass:
    63173 Da
    Quaternary structure:
    • Component of the membrane attack complex (MAC). MAC assembly is initiated by protelytic 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

Proteomics data for C9 Gene at MOPED

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

P02748

UniProtKB/Swiss-Prot:

CO9_HUMAN :
  • Contains 1 EGF-like domain.
  • Belongs to the complement C6/C7/C8/C9 family.
Domain:
  • Contains 1 EGF-like domain.
  • Contains 1 LDL-receptor class A domain.
  • Contains 1 MACPF domain.
  • Contains 1 TSP type-1 domain.
Family:
  • 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

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

COMPARTMENTS
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:0005579 membrane attack complex IEA --
GO:0005737 cytoplasm 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:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with C9: view

No data available for SIGNOR curated interactions for C9 Gene

Drugs & Compounds for C9 Gene

No Compound Related Data Available

Transcripts for C9 Gene

Unigene Clusters for C9 Gene

Complement component 9:
Representative Sequences:

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

No ASD Table

Relevant External Links for C9 Gene

GeneLoc Exon Structure for
C9
ECgene alternative splicing isoforms for
C9

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, MOPED, and MaxQB for C9 Gene



SOURCE GeneReport for Unigene cluster for C9 Gene Hs.654443

mRNA Expression by UniProt/SwissProt for C9 Gene

P02748-CO9_HUMAN
Tissue specificity: Plasma.
genes like me logo Genes that share expression patterns with C9: view

Protein tissue co-expression partners for C9 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia C9 35
  • 77.72 (n)
  • 70.19 (a)
C9 36
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9 35
  • 79.72 (n)
  • 71.04 (a)
C9 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C9 35
  • 72.4 (n)
  • 61.37 (a)
C9 16
C9 36
  • 58 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C9 35
  • 99.4 (n)
  • 98.75 (a)
C9 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C9 35
  • 76 (n)
  • 68.28 (a)
oppossum
(Monodelphis domestica)
Mammalia C9 36
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9 36
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C9 36
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c9 35
  • 55.49 (n)
  • 46.2 (a)
Str.6221 35
African clawed frog
(Xenopus laevis)
Amphibia MGC64276 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
c9 36
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 27 (a)
ManyToMany
-- 36
  • 29 (a)
ManyToMany
-- 36
  • 29 (a)
ManyToMany
-- 36
  • 23 (a)
ManyToMany
-- 36
  • 27 (a)
ManyToMany
-- 36
  • 25 (a)
ManyToMany
Species with no ortholog for C9:
  • 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

ENSEMBL:
Gene Tree for C9 (if available)
TreeFam:
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
VAR_012648 Complement component 9 deficiency (C9D)
rs700233 - 39,364,452(+) GCTCC(A/G)GCAGG reference, missense
rs13361416 - 39,331,684(+) ATAGA(C/T)CAAAG reference, missense
rs34625111 - 39,315,809(+) GGTAA(C/G)TTTCA reference, missense
rs696763 - 39,341,243(-) GCGGA(C/G/T)ACTTT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv6038n71 CNV Loss 21882294
esv272189 CNV Insertion 20981092
esv268626 CNV Insertion 20981092
esv1241962 CNV Insertion 17803354
nsv516263 CNV Loss 19592680
esv2669707 CNV Deletion 23128226

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

HapMap Linkage Disequilibrium report
C9
Human Gene Mutation Database (HGMD)
C9

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

Disorders for C9 Gene

MalaCards: The human disease database

(7) 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
  • armd15
immunodeficiency due to a late component of complement deficiency
  • deficiency of complement of terminal pathway
meningococcal meningitis
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

UniProtKB/Swiss-Prot

CO9_HUMAN
  • 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)
C9
Human Genome Epidemiology (HuGE) Navigator
C9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C9
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 48 67
  2. Functional studies of the MACPF domain of human complement protein C8alpha reveal sites for simultaneous binding of C8beta, C8gamma, and C9. (PMID: 16618117) Slade D.J. … Sodetz J.M. (Biochemistry 2006) 3 23
  3. Founder effect of the C9 R95X mutation in Orientals. (PMID: 12596049) Khajoee V. … Hara T. (Hum. Genet. 2003) 3 23
  4. A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese. (PMID: 9570574) Horiuchi T. … Fukumori Y. (J. Immunol. 1998) 3 23
  5. Mortalin/GRP75 binds to complement C9 and plays a role in resistance to complement-dependent cytotoxicity. (PMID: 24719326) Saar Ray M. … Fishelson Z. (J. Biol. Chem. 2014) 3

Products for C9 Gene

Sources for C9 Gene

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