Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C6 Gene

protein-coding   GIFtS: 65
GCID: GC05M041178

Complement Component 6

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Complement Component 61 2
Complement Component C62

External Ids:    HGNC: 13391   Entrez Gene: 7292   Ensembl: ENSG000000395377   OMIM: 2170505   UniProtKB: P136713   

Export aliases for C6 gene to outside databases

Previous GC identifers: GC05M041449 GC05M042234 GC05M041142 GC05M041187


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Immune response Lectin induced complement pathway and Complement Pathway. GO annotations related to this gene include protein binding. An important paralog of this gene is C9.

UniProtKB/Swiss-Prot: CO6_HUMAN, P13671
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 Wiki entry for C6 (Complement component 6) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_006576.16  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C6 gene promoter:
         STAT1   AP-1   ATF-2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   STAT3   c-Jun   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC6 promoter sequence
   Search SABiosciences Chromatin IP Primers for C6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13   Ensembl cytogenetic band:  5p13.1   HGNC cytogenetic band: 5p13.1

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M041178:  view genomic region     (about GC identifiers)

Start:
41,142,336 bp from pter      End:
41,261,540 bp from pter
Size:
119,205 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CO6_HUMAN, P13671 (See protein sequence)
Recommended Name: Complement component C6 precursor  
Size: 934 amino acids; 104786 Da
Subunit: 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
Subcellular location: Secreted
3 PDB 3D structures from and Proteopedia for C6:
3T5O (3D)        4A5W (3D)        4E0S (3D)    

Explore the universe of human proteins at neXtProt for C6: NX_P13671

Explore proteomics data for C6 at MOPED 

Post-translational modifications:

  • UniProtKB: 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P13671

  • C6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000056.2  NP_001108603.2  

    ENSEMBL proteins: 
     ENSP00000338861   ENSP00000263413   ENSP00000396565   ENSP00000401578  
    Reactome Protein details: P13671
    Human Recombinant Protein Products for C6: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for C6
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for C6
    GenScript Custom Purified and Recombinant Proteins Services for C6
    Novus Biologicals C6 Lysates
    Sino Biological Recombinant Protein for C6
    Sino Biological Cell Lysate for C6 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for C6 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005579membrane attack complex IEA--

    C6 for ontologies           About GeneDecksing



    C6 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for C6
    GenScript Superior Antibodies for C6
    Novus Biologicals C6 Antibodies
    Abcam antibodies for C6
    Cloud-Clone Corp. Antibodies for C6 
    ThermoFisher Antibodies for C6
    LSBio Antibodies in human, mouse, rat for C6 

    Assay Products for C6: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for C6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for C6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for C6 
    Cloud-Clone Corp. CLIAs for C6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    complement: Complement system

    5/9 InterPro protein domains (see all 9):
     IPR002172 LDrepeatLR_classA_rpt
     IPR000884 Thrombospondin_1_rpt
     IPR002350 Kazal_dom
     IPR001862 MAC_perforin
     IPR023415 LDLR_class-A_CS

    Graphical View of Domain Structure for InterPro Entry P13671

    ProtoNet protein and cluster: P13671

    5/6 Blocks protein domains (see all 6):
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB000884 Thrombospondin
    IPB002172 Low density lipoprotein-receptor
    IPB003884 Factor I membrane attack complex
    IPB008085 Thrombospondin type 1 repeat signature


    UniProtKB/Swiss-Prot: CO6_HUMAN, P13671
    Similarity: Belongs to the complement C6/C7/C8/C9 family
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 2 Kazal-like domains
    Similarity: Contains 1 LDL-receptor class A domain
    Similarity: Contains 1 MACPF domain
    Similarity: Contains 2 Sushi (CCP/SCR) domains
    Similarity: Contains 3 TSP type-1 domains


    C6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO6_HUMAN, P13671
    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

         Genatlas biochemistry entry for C6:
    complement component 6,beta-2 globulin 5.2S,complexing with other late components of the cascade to form the
    membrane attack complex

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17474147
         
    C6 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for C6:
     Increased homologous recombina  Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for C6):
     cardiovascular system  homeostasis/metabolism 

    C6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C6 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C6
    1 QIAGEN miScript miRNA Assays for microRNA that regulate C6:
    hsa-miR-653
    SwitchGear 3'UTR luciferase reporter plasmidC6 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for C6
    Sirion Biotech Customized adenovirus for overexpression of C6

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for C6 (see all 13)
    OriGene ORF clones in mouse, rat for C6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): C6 (NM_001079528)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C6
    Sirion Biotech Customized lentivirus for stable overexpression of C6 
                         Customized lentivirus expression plasmids for stable overexpression of C6 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for C6
    Search LifeMap BioReagents cell lines for C6
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for C6 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Lectin induced complement pathway
    Immune response Lectin induced complement pathway0.56
    Immune response Classic complement pathway0.53
    Immune response Alternative complement pathway0.56
    Immune response Classical complement pathway0.52
    Immune response Lectin Induced complement pathway0.56
    Regulation of Complement cascade0.50
    2Classical Complement Pathway
    Classical Complement Pathway0.75
    Lectin Induced Complement Pathway0.65
    Complement Pathway0.75
    Complement Activation Pathways0.31
    Complement Activation, Classical Pathway0.68
    3Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    4Terminal pathway of complement
    Terminal pathway of complement0.64
    Alternative Complement Pathway0.64
    5Immune System
    Immune System0.56
    Innate Immune System0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for C6
        Immune response Alternative complement pathway
    Immune response Classic complement pathway
    Immune response Lectin Induced complement pathway

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for C6
        Alternative Complement Pathway
    Classical Complement Pathway
    Lectin Induced Complement Pathway
    Complement Pathway

    3 GeneGo (Thomson Reuters) Pathways for C6
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    2 BioSystems Pathways for C6
        Complement Activation, Classical Pathway
    Complement and Coagulation Cascades

    1 Sino Biological Pathway for C6 
        Complement Activation Pathways

    5        Reactome Pathways for C6
        Terminal pathway of complement
    Regulation of Complement cascade
    Complement cascade
    Immune System
    Innate Immune System


    3         Kegg Pathways  (Kegg details for C6):
        Complement and coagulation cascades
    Prion diseases
    Systemic lupus erythematosus


    C6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/26 Interacting proteins for C6 (P136711, 3 ENSP000002634134) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NCK1P163331, 3, ENSP000002889864EBI-1753221,EBI-389883 I2D: score=1 STRING: ENSP00000288986
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    F2P007343, ENSP000003085414I2D: score=1 STRING: ENSP00000308541
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    C5P010313, ENSP000002236424I2D: score=2 STRING: ENSP00000223642
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0001970positive regulation of activation of membrane attack complex IEA--
    GO:0006956complement activation TAS2808363
    GO:0006958complement activation, classical pathway IEA--
    GO:0019835cytolysis IEA--

    C6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C6 (CO6)

    Search CenterWatch for drugs/clinical trials and news about C6 / CO6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C6 gene (2 alternative transcripts): 
    NM_000065.3  NM_001115131.2  

    Unigene Cluster for C6:

    Complement component 6
    Hs.481992  [show with all ESTs]
    Unigene Representative Sequence: NM_001115131
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000337836(uc003jmk.2) ENST00000263413(uc003jml.1) ENST00000461473
    ENST00000511470 ENST00000475349 ENST00000473450 ENST00000417809 ENST00000433294

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C6
    1 QIAGEN miScript miRNA Assays for microRNA that regulate C6:
    hsa-miR-653
    SwitchGear 3'UTR luciferase reporter plasmidC6 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C6
    Clone
    Products:
         
    OriGene clones in human, mouse for C6 (see all 13)
    OriGene ORF clones in mouse, rat for C6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): C6 (NM_001079528)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C6
    Sirion Biotech Customized lentivirus for stable overexpression of C6 
                         Customized lentivirus expression plasmids for stable overexpression of C6 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for C6
    OriGene qSTAR qPCR primer pairs in human, mouse for C6
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C6
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C6

    Additional mRNA sequence: 

    AB126592.1 AK292509.1 AK313673.1 BC035723.1 J04506.1 J05024.1 J05063.1 J05064.1 

    8 DOTS entries:

    DT.444925  DT.97825942  DT.75114884  DT.91717630  DT.97820683  DT.75197103  DT.95142451  DT.100782187 

    24/81 AceView cDNA sequences (see all 81):

    CK822997 BM920147 BG564395 BG566016 J04506 BC035723 NM_000065 J05024 
    J05064 BG564782 AI911872 BF593268 BG564936 BQ086342 AV691000 BG563179 
    AL692014 BX643450 BG568235 AV681758 CK822996 AI040604 H94220 BG565116 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    C6 expression in normal human tissues (normalized intensities)      C6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACGCCCTGTA
    C6 Expression
    About this image


    C6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             TGFbeta3+BMP7-induced chondrocytes
             Human Calvarial Osteoblasts (HCO)   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Human Cardiac Fibroblasts-adult ventrical (HCF-av)   
             atrial myocardium   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             TGFbeta3+BMP7-induced chondrocytes
     
     Liver (Hepatobiliary System)
             Human Hepatocyte (HH)   
     
     Smooth Muscle (Muscoskeletal System)
             Human Bronchial Smooth Muscle Cells (HBSM)   

    See C6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C6

    SOURCE GeneReport for Unigene cluster: Hs.481992
        SABiosciences Custom PCR Arrays for C6
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for C6
    OriGene qSTAR qPCR primer pairs in human, mouse for C6
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C6
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C6
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for C6 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C61 , 5 complement component 61, 5 81.17(n)1
    76.15(a)1
      15 (1.97 cM)5
    122741  NM_016704.21  NP_057913.21 
     47271755 
    chicken
    (Gallus gallus)
    Aves C61 complement component 6 64.95(n)
    58.41(a)
      431585  NM_001144849.1  NP_001138321.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    58(a)
    54(a)
    many → 1
    many → 1
    2(6856574-6882807)
    2(6887069-6915547)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC533972 similar to complement component 6 73.93(n)    BC042265.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc640732 hypothetical protein MGC64073 74.13(n)   393611  BC057429.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C6 gene
    C92  C8B2  C8A2  C72  
    2 SIMAP similar genes for C6 using alignment to 3 protein entries:     CO6_HUMAN (see all proteins):
    C7    THSD7B

    C6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: CO6_HUMAN, P13671
    Polymorphism: The sequence shown is that of allotype C6 B


    10/2828 SNPs in C6 are shown (see all 2828)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1910446061,2
    Cuntested141106427(+) GCTCCC/G/TTTTCT 4 R G mis10--------
    rs1421417651,2
    --41086304(+) AAATTC/TGGTAT 2 -- ds50010--------
    rs779789211,2
    C,F--41086358(+) GAATGC/ATGTTA 2 -- ds50012Minor allele frequency- A:0.05WA NA 238
    rs737502861,2
    C--41086521(+) TAAAAC/TTGACA 2 -- ds50011Minor allele frequency- T:0.50WA 2
    rs1849336251,2
    --41086784(+) ACAGCA/GATGTT 2 -- ds50010--------
    rs1507772131,2
    C--41086822(+) AGATGA/CTAATT 2 -- ut310--------
    rs737502871,2
    C,F--41086843(+) CTCACC/GCTTCC 2 -- ut313Minor allele frequency- G:0.15WA CSA 122
    rs737502881,2
    C,F--41086904(+) TTACCC/TGTTTA 2 -- ut311Minor allele frequency- T:0.50WA 2
    rs1914021791,2
    --41086944(+) GAATGC/TATGCT 2 -- ut310--------
    rs100672421,2
    C,F--41087126(+) TTGAAG/TAAAAT 2 -- ut311Minor allele frequency- T:0.03NA 120

    HapMap Linkage Disequilibrium report for C6 (41142336 - 41261540 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for C6:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2659504CNV Deletion23128226
    esv2730122CNV Deletion23290073
    nsv4808CNV Loss18451855
    nsv482997CNV Loss15286789
    nsv462123CNV Loss19166990
    nsv499625CNV Loss21111241
    nsv516193CNV Loss19592680
    nsv830269CNV Gain17160897
    nsv441950CNV CNV18776908


    Human Gene Mutation Database (HGMD): C6

    Locus Specific Mutation Databases (LSDB): C6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C6
    DNA2.0 Custom Variant and Variant Library Synthesis for C6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 217050   
    OMIM disorders: 612446  
    UniProtKB/Swiss-Prot: CO6_HUMAN, P13671
  • 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. Note=Disease susceptibility is associated with variations affecting the gene represented
    in this entry

  • 20/23 diseases for C6 (see all 23):    About MalaCards
    c6 deficiency    neisseria meningitidis infection    monkeypox    varicose veins
    oculocutaneous albinism    cowpox    prion disease    albinism
    age related macular degeneration    macular degeneration    vascular disease    meningitis
    malaria    non-hodgkin lymphoma    hodgkin's lymphoma    meningioma
    multiple sclerosis    systemic lupus erythematosus    lupus erythematosus    hepatitis b

    3 diseases from the University of Copenhagen DISEASES database for C6:
    Monkeypox     Meningitis     Cowpox

    C6 for disorders           About GeneDecksing

    Genatlas disease: C6
    infections,recurrent,neisserial

    Genetic Association Database (GAD): C6
    Human Genome Epidemiology (HuGE) Navigator: C6 (16 documents)

    Export disorders for C6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for C6 gene, integrated from 9 sources (see all 51):
    (articles sorted by number of sources associating them with C6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of complement C6 suggests a mechanism for initiation and unidirectional, sequential assembly of membrane attack complex (MAC). (PubMed id 22267737)1, 2 Aleshin A.E.... DiScipio R.G. (2012)
    2. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    3. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    4. Candidate malaria susceptibility/protective SNPs in h ospital and population-based studies: the effect of sub-structuring. (PubMed id 20459687)1, 4 Eid N.A....Ibrahim M.E. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. (PubMed id 19344414)1, 4 Cerhan J.R....Slager S.L. (2009)
    7. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. (PubMed id 18842294)1, 4 Ennis S....Lotery A. (2008)
    8. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. The four terminal components of the complement system are C- mannosylated on multiple tryptophan residues. (PubMed id 10551839)1, 2 Hofsteenge J.... Miroshnichenko O. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 729 HGNC: 1339 AceView: C6 Ensembl:ENSG00000039537 euGenes: HUgn729
    ECgene: C6 Kegg: 729 H-InvDB: C6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for C6 Pharmacogenomics, SNPs, Pathways
    C6basehttp://bioinf.uta.fi/C6base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C6 gene:
    Search GeneIP for patents involving C6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for C6  
     OriGene qPCR primer pairs and template standards for C6   OriGene Protein Over-expression Lysate for C6  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for C6  
     OriGene qSTAR qPCR primer pairs in human, mouse for C6   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for C6   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for C6   OriGene Custom Protein Services for C6  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C6
     QIAGEN SeqTarget long-range PCR primers for resequencing C6
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C6
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C6
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C6
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C6
     GenScript Custom Purified and Recombinant Proteins Services for C6 GenScript cDNA clones with any tag delivered in your preferred vector for C6
     GenScript Custom Assay Services for C6 GenScript Superior Antibodies for C6
     GenScript Custom overexpressing Cell Line Services for C6 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in C6 promoter
     Search Chromatin IP Primers for C6
     RT2 qPCR Primer Assay in human, mouse, rat C6
     GNC Network for C6
     SABiosciences PCR Arrays including human, mouse, rat C6
     Search Tocris compounds for C6 (CO6)
     Proteins and Antibodies for C6
     Cell Lysates for C6
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     C6 antibodies
     C6 lysates
     Antibodies for C6
     See all of Abcam's Antibodies, Kits and Proteins for C6
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for C6
     Antibodies for C6
     ELISAs for C6
     CLIAs for C6
     Search LifeMap BioReagents cell lines for C6
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6
     SwitchGear 3'UTR luciferase reporter plasmids for C6
     SwitchGear Promoter luciferase reporter plasmids for C6
     ThermoFisher Antibodies for C6
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C6
     inGenious Targeting Laboratory - Custom generated mouse model solutions for C6
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C6
    Customized:
     lentivirus for stable overexpression of C6
     lentivirus expression plasmids for stable overexpression of C6
     adenovirus for overexpression of C6
     LSBio Antibodies in human, mouse, rat for C6
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      C6 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4