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Aliases for C6 Gene

Aliases for C6 Gene

  • Complement Component 6 2 3

External Ids for C6 Gene

Previous GeneCards Identifiers for C6 Gene

  • GC05M041449
  • GC05M042234
  • GC05M041142
  • GC05M041187

Summaries for C6 Gene

Entrez Gene Summary for C6 Gene

  • This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]

GeneCards Summary for C6 Gene

C6 (Complement Component 6) is a Protein Coding gene. Diseases associated with C6 include c6 deficiency and neisseria meningitidis infection. Among its related pathways are Complement and coagulation cascades and Complement and coagulation cascades. An important paralog of this gene is C8B.

UniProtKB/Swiss-Prot for C6 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

Gene Wiki entry for C6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C6 Gene

Genomics for C6 Gene

Regulatory Elements for C6 Gene

Genomic Location for C6 Gene

Start:
41,142,146 bp from pter
End:
41,261,486 bp from pter
Size:
119,341 bases
Orientation:
Minus strand

Genomic View for C6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C6 Gene

Proteins for C6 Gene

  • Protein details for C6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13671-CO6_HUMAN
    Recommended name:
    Complement component C6
    Protein Accession:
    P13671
    Secondary Accessions:

    Protein attributes for C6 Gene

    Size:
    934 amino acids
    Molecular mass:
    104786 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 12-14 copies of the pore-forming subunit C9.

    Three dimensional structures from OCA and Proteopedia for C6 Gene

neXtProt entry for C6 Gene

Proteomics data for C6 Gene at MOPED

Post-translational modifications for C6 Gene

  • All cysteine residues are assumed to be cross-linked to one another. Individual modules containing an even number of conserved cysteine residues are supposed to have disulfide linkages only within the same module
  • Glycosylation at Trp29, Trp32, Thr38, Trp90, Asn324, Thr392, Trp568, Trp571, Trp574, and Asn855
  • Modification sites at PhosphoSitePlus

Other Protein References for C6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for C6 Gene

Domains for C6 Gene

Gene Families for C6 Gene

HGNC:

Suggested Antigen Peptide Sequences for C6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P13671

UniProtKB/Swiss-Prot:

CO6_HUMAN :
  • P13671
Domain:
  • Contains 1 EGF-like domain.
  • Contains 2 Kazal-like domains.
  • Contains 1 LDL-receptor class A domain.
  • Contains 1 MACPF domain.
  • Contains 2 Sushi (CCP/SCR) domains.
  • Contains 3 TSP type-1 domains.
Family:
  • Belongs to the complement C6/C7/C8/C9 family.
genes like me logo Genes that share domains with C6: view

Function for C6 Gene

Molecular function for C6 Gene

GENATLAS Biochemistry: complement component 6,beta-2 globulin 5.2S,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

Gene Ontology (GO) - Molecular Function for C6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17474147
genes like me logo Genes that share ontologies with C6: view
genes like me logo Genes that share phenotypes with C6: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for C6 Gene

Localization for C6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C6 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C6 Gene COMPARTMENTS Subcellular localization image for C6 gene
Compartment Confidence
extracellular 5
plasma membrane 3
lysosome 1

Gene Ontology (GO) - Cellular Components for C6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005579 membrane attack complex IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with C6: view

Pathways for C6 Gene

genes like me logo Genes that share pathways with C6: view

Gene Ontology (GO) - Biological Process for C6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001970 positive regulation of activation of membrane attack complex IEA --
GO:0006956 complement activation TAS 2808363
GO:0006958 complement activation, classical pathway IEA --
GO:0019835 cytolysis IEA --
genes like me logo Genes that share ontologies with C6: view

Transcripts for C6 Gene

Unigene Clusters for C6 Gene

Complement component 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C6 Gene

No ASD Table

Relevant External Links for C6 Gene

GeneLoc Exon Structure for
C6
ECgene alternative splicing isoforms for
C6

Expression for C6 Gene

mRNA expression in normal human tissues for C6 Gene

mRNA differential expression in normal tissues according to GTEx for C6 Gene

This gene is overexpressed in Liver (30.2) and Heart - Atrial Appendage (6.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for C6 Gene

SOURCE GeneReport for Unigene cluster for C6 Gene Hs.481992

genes like me logo Genes that share expressions with C6: view

No data available for mRNA Expression by UniProt/SwissProt for C6 Gene

Orthologs for C6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C6 35
  • 99.43 (n)
  • 98.93 (a)
C6 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C6 35
  • 85.05 (n)
  • 80.15 (a)
C6 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C6 35
  • 86.4 (n)
  • 83.62 (a)
C6 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C6 35
  • 81.13 (n)
  • 76.15 (a)
C6 16
C6 36
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C6 36
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C6 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C6 35
  • 81.78 (n)
  • 78.46 (a)
chicken
(Gallus gallus)
Aves C6 35
  • 64.88 (n)
  • 58.35 (a)
C6 36
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 58 (a)
OneToMany
-- 36
  • 54 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia MGC53397 35
tropical clawed frog
(Silurana tropicalis)
Amphibia c6.2 35
  • 59.72 (n)
  • 54.97 (a)
Str.8264 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10081 35
zebrafish
(Danio rerio)
Actinopterygii c6 35
  • 54.54 (n)
  • 46.73 (a)
c6 36
  • 45 (a)
OneToMany
c6 36
  • 45 (a)
OneToMany
zgc64073 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
-- 36
  • 29 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
-- 36
  • 33 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
Species with no ortholog for C6:
  • 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)
  • 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)
  • 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 C6 Gene

ENSEMBL:
Gene Tree for C6 (if available)
TreeFam:
Gene Tree for C6 (if available)

Paralogs for C6 Gene

Paralogs for C6 Gene

Selected SIMAP similar genes for C6 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with C6: view

Variants for C6 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for C6 Gene

P13671-CO6_HUMAN
The sequence shown is that of allotype C6 B

Sequence variations from dbSNP and Humsavar for C6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs9200 -- 41,142,504(-) TTCTC(A/G)CAATT utr-variant-3-prime
rs14169 -- 41,142,629(-) CTCAT(G/T)ACGCC utr-variant-3-prime
rs368743 -- 41,262,039(+) AGAAA(A/G)TTCTT upstream-variant-2KB
rs399443 -- 41,263,480(+) CCTAG(A/G)GTTCC upstream-variant-2KB
rs403624 -- 41,253,751(-) TGATG(C/T)TGATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C6 Gene

Variant ID Type Subtype PubMed ID
nsv482997 CNV Loss 15286789
nsv4808 CNV Loss 18451855
nsv830269 CNV Gain 17160897
esv2730122 CNV Deletion 23290073
esv2659504 CNV Deletion 23128226
nsv499625 CNV Loss 21111241
nsv462123 CNV Loss 19166990
nsv516193 CNV Loss 19592680
nsv441950 CNV CNV 18776908

Relevant External Links for C6 Gene

HapMap Linkage Disequilibrium report
C6
Human Gene Mutation Database (HGMD)
C6
Locus Specific Mutation Databases (LSDB)
C6

Disorders for C6 Gene

(1) OMIM Diseases for C6 Gene (217050)

UniProtKB/Swiss-Prot

CO6_HUMAN
  • Complement component 6 deficiency (C6D) [MIM:612446]: A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. {ECO:0000269 PubMed:15565285}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for C6 Gene

Genatlas disease for C6 Gene

infections,recurrent,neisserial

Relevant External Links for C6

Genetic Association Database (GAD)
C6
Human Genome Epidemiology (HuGE) Navigator
C6
genes like me logo Genes that share disorders with C6: view

Publications for C6 Gene

  1. Structural homology of complement protein C6 with other channel- forming proteins of complement. (PMID: 2468158) Chakravarti D.N. … Mueller-Eberhard H.J. (Proc. Natl. Acad. Sci. U.S.A. 1989) 3 4
  2. The molecular architecture of human complement component C6. (PMID: 2789218) Discipio R.G. … Hugli T.E. (J. Biol. Chem. 1989) 3 4
  3. Complete primary structure and functional characterization of the sixth component of the human complement system. Identification of the C5b-binding domain in complement C6. (PMID: 2808363) Haefliger J.-A. … Jenne D.E. (J. Biol. Chem. 1989) 3 4
  4. Polymorphism of human complement component C6: an amino acid substitution (Glu/Ala) within the second thrombospondin repeat differentiates between the two common allotypes C6 A and C6 B. (PMID: 8101442) Dewald G. … Cichon S. (Biochem. Biophys. Res. Commun. 1993) 3 4
  5. Structure of the human C6 gene. (PMID: 8512929) Hobart M.J. … Discipio R.G. (Biochemistry 1993) 3 4

Products for C6 Gene

Sources for C6 Gene

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