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Aliases for C6 Gene

Aliases for C6 Gene

  • Complement C6 2 3 5
  • Complement Component 6 2

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 C6) is a Protein Coding gene. Diseases associated with C6 include C6 Deficiency and Immunodeficiency Due To A Late Component Of Complement Deficiency. Among its related pathways are Immune System and Complement Pathway. An important paralog of this gene is C7.

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

Enhancers for C6 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
GH05F040967 0.3 FANTOM5 6.3 +293.5 293522 0.3 ZNF133 C6 MROH2B C7 ENSG00000248120
GH05F041212 0.4 ENCODE 4.5 +47.9 47912 2.7 CEBPB RAD21 NR2F2 YY1 NFIL3 ATF3 CEBPA HNF4G ZBTB33 MAFK C5orf51 C6 GC05P041223 LOC105374739
GH05F041083 0.7 FANTOM5 4.5 +177.4 177386 0.3 C6 LOC105374739 GC05P041223
GH05F041263 0.7 ENCODE 0.8 -2.5 -2542 1.9 RAD21 NR2F2 C7 PLCXD3 C6 LOC102723740
GH05F041246 0.7 ENCODE 0.3 +15.1 15103 0.5 JUND BHLHE40 FOS FOSL2 NFE2L2 MROH2B C6 GC05M041225
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around C6 on UCSC Golden Path with GeneCards custom track

Genomic Location for C6 Gene

Chromosome:
5
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

Genes around C6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

    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

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 Trp 29, Trp 32, Thr 38, Trp 90, Asn 324, Thr 392, Trp 568, Trp 571, Trp 574, and Asn 855
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for C6

No data available for DME Specific Peptides for C6 Gene

Domains & Families for C6 Gene

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 :
  • Contains 1 EGF-like domain.
  • Belongs to the complement C6/C7/C8/C9 family.
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

Human Phenotype Ontology for C6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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 4
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for C6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,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 & Interactions 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:0002376 immune system process IEA --
GO:0006955 immune response IEA --
GO:0006956 complement activation TAS 2808363
genes like me logo Genes that share ontologies with C6: view

No data available for SIGNOR curated interactions for C6 Gene

Transcripts for C6 Gene

Unigene Clusters for C6 Gene

Complement component 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 (x30.2) and Heart - Atrial Appendage (x6.6).

Protein differential expression in normal tissues from HIPED for C6 Gene

This gene is overexpressed in Serum (33.9) and Plasma (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for C6 Gene



Protein tissue co-expression partners for C6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C6 Gene:

C6

SOURCE GeneReport for Unigene cluster for C6 Gene:

Hs.481992
genes like me logo Genes that share expression patterns with C6: view

Primer Products

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 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia C6 34 35
  • 86.4 (n)
cow
(Bos Taurus)
Mammalia C6 34 35
  • 85.05 (n)
rat
(Rattus norvegicus)
Mammalia C6 34
  • 81.78 (n)
mouse
(Mus musculus)
Mammalia C6 34 16 35
  • 81.13 (n)
oppossum
(Monodelphis domestica)
Mammalia C6 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C6 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves C6 34 35
  • 64.88 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 58 (a)
OneToMany
-- 35
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c6.2 34
  • 59.72 (n)
Str.8264 34
African clawed frog
(Xenopus laevis)
Amphibia MGC53397 34
zebrafish
(Danio rerio)
Actinopterygii c6 34 35 35
  • 54.54 (n)
zgc64073 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10081 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
ManyToMany
-- 35
  • 32 (a)
ManyToMany
-- 35
  • 32 (a)
ManyToMany
-- 35
  • 32 (a)
ManyToMany
-- 35
  • 31 (a)
ManyToMany
-- 35
  • 29 (a)
ManyToMany
Species where no ortholog for C6 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)
  • 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

(2) 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

CO6_HUMAN-P13671
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
rs398122811 Pathogenic 41,201,621(-) TGCCC(-/C)ATCAA intron-variant, reference, frameshift-variant
rs142881576 Likely pathogenic 41,159,152(+) TCCTC(A/G)TTGGG intron-variant, reference, stop-gained
rs121917779 Benign 41,201,565(-) TATTG(A/C/G)AAAAC intron-variant, reference, missense
rs10036421 -- 41,230,972(+) TCATA(C/T)AAtaa intron-variant
rs10036443 -- 41,231,077(+) atgtg(C/T)atctt intron-variant

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

Variant ID Type Subtype PubMed ID
esv2659504 CNV deletion 23128226
esv2730122 CNV deletion 23290073
esv3369983 CNV insertion 20981092
esv3439556 CNV insertion 20981092
esv3570087 CNV loss 25503493
esv3604837 CNV gain 21293372
esv3604838 CNV loss 21293372
esv3604839 CNV gain 21293372
esv3894180 CNV loss 25118596
esv3894181 CNV loss 25118596
esv3894182 CNV loss 25118596
nsv1161234 CNV deletion 26073780
nsv441950 CNV loss 18776908
nsv462123 CNV loss 19166990
nsv4808 CNV deletion 18451855
nsv482997 CNV loss 15286789
nsv499625 CNV loss 21111241
nsv516193 CNV loss 19592680
nsv597878 CNV loss 21841781
nsv597879 CNV loss 21841781
nsv830269 CNV gain 17160897

Variation tolerance for C6 Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.69; 73.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C6 Gene

Human Gene Mutation Database (HGMD)
C6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C6

Disorders for C6 Gene

MalaCards: The human disease database

(4) MalaCards diseases for C6 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
c6 deficiency
  • complement component 6 deficiency
immunodeficiency due to a late component of complement deficiency
  • deficiency of complement of terminal pathway
monkeypox
  • monkeypox virus infection
meningitis
- elite association - COSMIC cancer census association via MalaCards
Search C6 in MalaCards View complete list of genes associated with diseases

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.

Genatlas disease for C6 Gene

infections,recurrent,neisserial

Relevant External Links for C6

Genetic Association Database (GAD)
C6
Human Genome Epidemiology (HuGE) Navigator
C6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C6
genes like me logo Genes that share disorders with C6: view

Publications for C6 Gene

  1. Structure of complement C6 suggests a mechanism for initiation and unidirectional, sequential assembly of membrane attack complex (MAC). (PMID: 22267737) Aleshin A.E. … DiScipio R.G. (J. Biol. Chem. 2012) 3 4 64
  2. 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
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
  4. Candidate malaria susceptibility/protective SNPs in hospital and population-based studies: the effect of sub-structuring. (PMID: 20459687) Eid N.A. … Ibrahim M.E. (Malar. J. 2010) 3 46 64
  5. 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

Products for C6 Gene

Sources for C6 Gene

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