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Aliases for C9 Gene

Aliases for C9 Gene

  • Complement Component 9 2 3
  • ARMD15 3 6
  • C9D 3 6
  • Complement Component C9 3

External Ids for C9 Gene

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 primary amebic meningoencephalitis. Among its related pathways are Complement and coagulation cascades and Complement and coagulation cascades. 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

Genomic Location for C9 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9 Gene

Regulatory Elements 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
    Secondary Accessions:

    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

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
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Trp48, Trp51, Asn277, and Asn415

Other Protein References for C9 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for C9 Gene

Domains for C9 Gene

Gene Families for C9 Gene

HGNC:

UniProtKB/Swiss-Prot:

CO9_HUMAN
Domain:
  • Contains 1 EGF-like domain.:
    • P02748
  • Contains 1 LDL-receptor class A domain.:
    • P02748
  • Contains 1 MACPF domain.:
    • P02748
  • Contains 1 TSP type-1 domain.:
    • P02748
Family:
  • Belongs to the complement C6/C7/C8/C9 family.:
    • P02748
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

Gene Ontology (GO) - Molecular Function for C9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with C9: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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 3
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 TAS --
GO:0005579 membrane attack complex IEA --
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
GO:0005887 integral component of plasma membrane TAS 2426252
genes like me logo Genes that share ontologies with C9: view

Pathways 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:0006957 complement activation, alternative pathway IEA --
GO:0006958 complement activation, classical pathway IEA --
GO:0019836 hemolysis by symbiont of host erythrocytes TAS 2426252
GO:0030449 regulation of complement activation TAS --
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with C9: view

Transcripts for C9 Gene

mRNA/cDNA 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 (52.6).

Integrated Proteomics: protein expression 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 expressions with C9: view

Orthologs for C9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9 36
  • 99.4 (n)
  • 98.75 (a)
C9 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C9 36
  • 77.72 (n)
  • 70.19 (a)
C9 37
  • 69 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C9 36
  • 79.72 (n)
  • 71.04 (a)
C9 37
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C9 36
  • 72.4 (n)
  • 61.37 (a)
C9 16
C9 37
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C9 37
  • 55 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9 37
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C9 36
  • 76 (n)
  • 68.28 (a)
lizard
(Anolis carolinensis)
Reptilia C9 37
  • 43 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC64276 36
tropical clawed frog
(Silurana tropicalis)
Amphibia c9 36
  • 55.49 (n)
  • 46.2 (a)
Str.6221 36
zebrafish
(Danio rerio)
Actinopterygii -- 36
c9 37
  • 32 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 27 (a)
ManyToMany
-- 37
  • 29 (a)
ManyToMany
-- 37
  • 29 (a)
ManyToMany
-- 37
  • 23 (a)
ManyToMany
-- 37
  • 27 (a)
ManyToMany
-- 37
  • 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

Selected 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 MAF
rs3114 -- 39,285,784(+) AGAAA(C/T)GCACA intron-variant
rs35252 -- 39,286,675(+) GAAAA(C/T)AGACG intron-variant
rs35254 -- 39,302,366(-) AACTT(A/G)TTTAT intron-variant
rs149774 -- 39,310,759(+) GGAAG(A/G)TAACT intron-variant
rs152255 -- 39,312,039(+) gggaa(C/T)ggaaa intron-variant

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

Relevant External Links for C9 Gene

HapMap Linkage Disequilibrium report
C9
Human Gene Mutation Database (HGMD)
C9
Locus Specific Mutation Databases (LSDB)
C9

Disorders for C9 Gene

(2) OMIM Diseases for C9 Gene (120940)

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.

(1) University of Copenhagen DISEASES for C9 Gene

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

Publications for C9 Gene

  1. 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
  2. Founder effect of the C9 R95X mutation in Orientals. (PMID: 12596049) Khajoee V. … Hara T. (Hum. Genet. 2003) 3 23
  3. 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
  4. Localization and molecular modelling of the membrane-inserted domain of the ninth component of human complement and perforin. (PMID: 2395434) Peitsch M.C. … Tschopp J. (Mol. Immunol. 1990) 3 4
  5. Relationships between the gene and protein structure in human complement component C9. (PMID: 3219351) Marazziti D. … Stanley K.K. (Biochemistry 1988) 3 4

Products for C9 Gene

Sources for C9 Gene

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