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

C6 Gene

protein-coding   GIFtS: 64
GCID: GC05M041178

complement component 6
 Explore 19 diseases affiliated with
C6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C6    

Aliases
for C6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for C6 gene

(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:
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)

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)


Genomic Views
for C6 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
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 plasmid: C6 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 chromosome: 5

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

Proteins
for C6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • 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 module1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P13671

    • C6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    OriGene Protein Over-expression Lysate (see all 2): C6
    OriGene Custom Protein Services for C6 
    GenScript Custom Purified and Recombinant Proteins Services for C6
    Novus Biologicals C6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for C6

    Gene Ontology (GO): 3 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--
    GO:0005615extracellular space ----


    C6 for ontologies           About GeneDecksing



    C6 Antibody Products: 
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    Uscn Antibodies for C6
    ThermoFisher Antibodies for C6

    Assay Products for C6: 
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    Uscn ELISAs and CLIAs for C6

    Protein Domains /
    Families
    for C6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    C6 for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR002172 LDrepeatLR_classA_rpt
     IPR000884 Thrombospondin_1_rpt
     IPR002350 Prot_inh_Kazal
     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 families (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


    Function
    for C6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): C6
    Browse MicroRNA Expression Plasmids
    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 plasmid: C6 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C6 (see all 7)
    OriGene shRNA RFP: C6
    OriGene siRNA: C6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C6

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for C6

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C6 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C6 (see all 2)
    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 

    Cell Line
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    Search LifeMap BioReagents cell lines for C6

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C6

    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


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

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

    C6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for C6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Classical Complement Pathway
    		Classical Complement Pathway1.00
    		Complement Activation, Classical Pathway0.65
    		Complement Pathway0.75
    		Lectin Induced Complement Pathway0.56
    2Immune response_Alternative complement pathway
    		Immune response Alternative complement pathway1.00
    		Immune response_Lectin induced complement pathway0.56
    		Immune response_Alternative complement pathway1.00
    		Immune response Lectin Induced complement pathway0.56
    3Immune response_Classical complement pathway
    		Immune response_Classical complement pathway1.00
    		Immune response Classic complement pathway0.98
    4Terminal pathway of complement
    		Terminal pathway of complement1.00
    		Alternative Complement Pathway0.64
    5Immune System
    		Immune System1.00
    		Innate Immune System0.46

    Pathway sources
    See GeneCards unified pathways
    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

    4        Reactome Pathways for C6
        Terminal pathway of complement
    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-3448658 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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    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:0006917induction of apoptosis ----
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process ----
    GO:0006956complement activation TAS2808363


    C6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for C6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Search CenterWatch for drugs/clinical trials and news about C6 / CO6 

    Transcripts
    for C6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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:             		 OriGene 3'-UTR Clone (see all 2): C6
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: C6 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C6 (see all 7)
    OriGene shRNA RFP: C6
    OriGene siRNA: C6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C6
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C6 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C6 (see all 2)
    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 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C6

    Additional cDNA 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):

    BC035723 J05064 BG564395 J05024 CK822997 BG566016 J04506 NM_000065 
    BM920147 H94220 N77085 AL692014 BG564936 BQ102416 H94238 BG428261 
    AV681758 AA705186 W07155 AB126592 BF593268 H93012 CB156001 AW135433 

    GeneLoc Exon Structure


    Expression
    for C6 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACGCCCTGTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    C6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeVisceral White AdipocytesAdipose
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 4 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in...)Bone
    TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)Bone, Cartilage

    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
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    Browse OriGene validated miRNA SYBR primer pairs
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    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
    for C6 gene

    (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 --
    --
    		 --
    		 57(a)
    57(a)
    		 many → 1
    many → 1
    		 2(6889411-6904125)
    2(6856574-6882807)
    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
    for C6 gene

    (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



    Genomic Variants
    for C6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/2364 NCBI SNPs in C6 are shown (see all 2364)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1910446061,2
    		C,other41114096(+) GCTCCC/G/TTTTCT 6 R G mis10--------
    rs779789211,2
    		F,--41094026(+) GAATGC/ATGTTA 2 -- ds50012Minor allele frequency- A:0.05WA NA 238
    rs737502871,2
    		C,F,--41094511(+) CTCACC/GCTTCC 2 -- ut313Minor allele frequency- G:0.15WA CSA 122
    rs737502881,2
    		C,--41094572(+) TTACCC/TGTTTA 2 -- ut311Minor allele frequency- T:0.50WA 2
    rs14234161,2
    		C,F,H,--41094853(-) CCTTAT/CGTAGC 2 -- ut31 ese319Minor allele frequency- C:0.07MN NS EA NA WA CSA 1929
    rs14234151,2
    		C,F,H,--41094906(-) GTCTCG/ATAAAT 2 -- ut31 ese319Minor allele frequency- A:0.08MN NS EA NA WA CSA 1922
    rs737502901,2
    		C,--41094949(+) CAGGGC/TGTCAT 2 -- ut311Minor allele frequency- T:0.50WA 2
    rs585117991,2
    		C,--41095868(+) GCCAAG/ACACTT 2 -- int12Minor allele frequency- A:0.13WA 120
    rs64515641,2
    		C,F,A,H,--41096059(+) aactcC/TataTC 2 -- int117Minor allele frequency- T:0.07NS EA NA WA CSA 1617
    rs64515651,2
    		C,A,--41096432(+) CCCCAA/CAAGTG 2 -- int10--------

    HapMap Linkage Disequilibrium report for C6 (41142336 - 41261540 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for C6
         4 CNVs: 38609 36415 0063 51700
    Human Gene Mutation Database (HGMD): C6

    Locus Specific Mutation Databases (LSDB): C6

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C6
    DNA2.0 Custom Variant and Variant Library Synthesis for C6

    Disorders / Diseases
    for C6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    C6 for disorders           About GeneDecksing

    OMIM gene information: 217050   
    OMIM disorders: 612446  
    UniProtKB/Swiss-Prot: CO6_HUMAN, P13671
  • Defects in C6 are the cause of 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

    19 diseases for C6:    About MalaCards
    age related macular degeneration    oculocutaneous albinism    non-hodgkin lymphoma    macular degeneration
    monkeypox    systemic lupus erythematosus    lupus erythematosus    hodgkin's lymphoma
    albinism    cowpox    prion disease    multiple sclerosis
    vascular disease    hepatitis b    meningitis    meningioma
    hepatitis    malaria    leukemia

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

    Publications
    for C6 gene

    (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 48):
    (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. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    3. 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)
    4. 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)
    5. Elucidation of the disulfide-bonding pattern in the factor I modules of the sixth component (C6) of human complement. (PubMed id 9366265)1, 2 Lengweiler S.... Rickli E.E. (1997)
    6. Structure of the human C6 gene. (PubMed id 8512929)1, 2 Hobart M.J.... Discipio R.G. (1993)
    7. 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. (PubMed id 8101442)1, 2 Dewald G.... Cichon S. (1993)
    8. The molecular architecture of human complement component C6. (PubMed id 2789218)1, 2 Discipio R.G. and Hugli T.E. (1989)
    9. Complete primary structure and functional characterization of the sixth component of the human complement system. Identification of the C5b-binding domain in complement C6. (PubMed id 2808363)1, 2 Haefliger J.-A.... Jenne D.E. (1989)
    10. Structural homology of complement protein C6 with other channel- forming proteins of complement. (PubMed id 2468158)1, 2 Chakravarti D.N.... Mueller-Eberhard H.J. (1989)

    External Searches for C6 gene

    (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)

    Genome Databases showing C6 gene

    (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

    Other Databases showing C6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C6 gene

    (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/

    Intellectual Property
    for C6 gene

    (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



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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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