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

C9 Gene

protein-coding   GIFtS: 63
GCID: GC05M039320

Complement Component 9

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(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 91 2
Complement Component C92

External Ids:    HGNC: 13581   Entrez Gene: 7352   Ensembl: ENSG000001136007   OMIM: 1209405   UniProtKB: P027483   

Export aliases for C9 gene to outside databases

Previous GC identifers: GC05M039463 GC05M040377 GC05M039284 GC05M039330


(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 C9 Gene:
This gene encodes the final component of the complement system. It participates in the formation of the Membrane
Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial
membrane organization. Mutations in this gene cause component C9 deficiency. (provided by RefSeq, Feb 2009)

GeneCards Summary for C9 Gene: 
C9 (complement component 9) is a protein-coding gene. Diseases associated with C9 include complement component 9 deficiency, and paroxysmal nocturnal hemoglobinuria, and among its related super-pathways are Immune response Lectin induced complement pathway and Complement Pathway. An important paralog of this gene is C6.

UniProtKB/Swiss-Prot: CO9_HUMAN, P02748
Function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune
response by forming pores in the plasma membrane of target cells. C9 is the pore-forming subunit of the MAC




(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  NC_018916.2  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C9 gene promoter:
         Elk-1   GATA-3   AP-1   ATF-2   C/EBPalpha   GATA-1   GATA-2   c-Jun   NF-Y   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC9 promoter sequence
   Search SABiosciences Chromatin IP Primers for C9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9


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

Entrez Gene cytogenetic band: 5p14-p12   Ensembl cytogenetic band:  5p13.1   HGNC cytogenetic band: 5p14-p12

C9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M039320:  view genomic region     (about GC identifiers)

Start:
39,284,364 bp from pter      End:
39,424,970 bp from pter
Size:
140,607 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: CO9_HUMAN, P02748 (See protein sequence)
Recommended Name: Complement component C9 precursor  
Size: 559 amino acids; 63173 Da
Subunit: Component of the membrane attack complex (MAC). MAC assembly is initiated by protelytic cleavage of C5
into C5a and C5b. C5b binds sequentially C6, C7, C8 and multiple copies of the pore-forming subunit C9
Subcellular location: Secreted. Cell membrane; Multi-pass membrane protein. Note=Secreted as soluble monomer.
Oligomerizes at target membranes, forming a pre-pore. A conformation change then leads to the formation of a 100
Angstrom diameter pore

Explore the universe of human proteins at neXtProt for C9: NX_P02748

Explore proteomics data for C9 at MOPED 

Post-translational modifications:

  • UniProtKB: Thrombin cleaves factor C9 to produce C9a and C9b
  • UniProtKB: Phosphorylation sites are present in the extracellular medium
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02748

  • C9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C9 Protein Expression
    REFSEQ proteins: NP_001728.1  
    ENSEMBL proteins: 
     ENSP00000263408  
    Reactome Protein details: P02748
    Human Recombinant Protein Products for C9: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals C9 Protein
    Novus Biologicals C9 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for C9 

    Gene Ontology (GO): 5 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:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--
    GO:0005887integral to plasma membrane TAS2426252

    C9 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for C9


    (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

    5/6 InterPro protein domains (see all 6):
     IPR002172 LDrepeatLR_classA_rpt
     IPR000884 Thrombospondin_1_rpt
     IPR001862 MAC_perforin
     IPR023415 LDLR_class-A_CS
     IPR020864 MACPF

    Graphical View of Domain Structure for InterPro Entry P02748

    ProtoNet protein and cluster: P02748

    3 Blocks protein domains:
    IPB000884 Thrombospondin
    IPB001862 Membrane attack complex component/perforin/complement C9
    IPB002172 Low density lipoprotein-receptor


    UniProtKB/Swiss-Prot: CO9_HUMAN, P02748
    Similarity: Belongs to the complement C6/C7/C8/C9 family
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 LDL-receptor class A domain
    Similarity: Contains 1 MACPF domain
    Similarity: Contains 1 TSP type-1 domain


    C9 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: CO9_HUMAN, P02748
    Function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune
    response by forming pores in the plasma membrane of target cells. C9 is the pore-forming subunit of the MAC

         Genatlas biochemistry entry for C9:
    complement component 9,alpha-2 globulin 4.S,forming transmembrane channels,highly homologous to
    perforin,complexing with other late components of the cascade to form the membrane attack complex

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    C9 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for C9 (no phenotypes)

    C9 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C9 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C9

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C9 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C9 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C9
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate C9:
    hsa-miR-4261 hsa-miR-3688-3p hsa-miR-494 hsa-miR-590-3p hsa-miR-1256 hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidC9 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of C9

    Clone
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    OriGene ORF clones in mouse, rat for C9
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    GenScript: all cDNA clones in your preferred vector: C9 (NM_001737)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9
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                         Customized lentivirus expression plasmids for stable overexpression of C9 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9


    (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 C9 About   (see all 9)                                                                                              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
    Complement Activation, Classical Pathway0.68
    Complement Pathway0.75
    Lectin Induced Complement Pathway0.65
    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 C9
        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 C9
        Alternative Complement Pathway
    Classical Complement Pathway
    Lectin Induced Complement Pathway
    Complement Pathway

    3 GeneGo (Thomson Reuters) Pathways for C9
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    2 BioSystems Pathways for C9
        Complement Activation, Classical Pathway
    Complement and Coagulation Cascades

    5        Reactome Pathways for C9
        Terminal pathway of complement
    Regulation of Complement cascade
    Complement cascade
    Immune System
    Innate Immune System


    4         Kegg Pathways  (Kegg details for C9):
        Complement and coagulation cascades
    Prion diseases
    Amoebiasis
    Systemic lupus erythematosus


    C9 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/11 Interacting proteins for C9 (P027483 ENSP000002634084) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD59P139873, ENSP000003402104I2D: score=3 STRING: ENSP00000340210
    C8AP073573, ENSP000003544584I2D: score=1 STRING: ENSP00000354458
    CLUP109093, ENSP000003151304I2D: score=2 STRING: ENSP00000315130
    PDPK1O155303I2D: score=1 
    PRKAA1Q131313I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006957complement activation, alternative pathway IEA--
    GO:0006958complement activation, classical pathway IEA--
    GO:0019835cytolysis IEA--
    GO:0019836hemolysis by symbiont of host erythrocytes TAS2426252
    GO:0030449regulation of complement activation TAS--

    C9 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 C9 (CO9)

    Search CenterWatch for drugs/clinical trials and news about C9 / CO9

    (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 C9 gene: 
    NM_001737.3  

    Unigene Cluster for C9:

    Complement component 9
    Hs.654443  [show with all ESTs]
    Unigene Representative Sequence: NM_001737
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000263408(uc003jlv.4) ENST00000509186 ENST00000483232 ENST00000467285


    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate C9:
    hsa-miR-4261 hsa-miR-3688-3p hsa-miR-494 hsa-miR-590-3p hsa-miR-1256 hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidC9 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C9
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C9
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C9 (NM_001737)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C9
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9
    Sirion Biotech Customized lentivirus for stable overexpression of C9 
                         Customized lentivirus expression plasmids for stable overexpression of C9 
    Primer
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    OriGene qPCR primer pairs and template standards for C9
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C9
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C9

    Additional mRNA sequence: 

    AK308045.1 BC020721.1 K02766.1 X02176.1 

    8 DOTS entries:

    DT.100727539  DT.109320  DT.91756170  DT.91756164  DT.100793251  DT.120858536  DT.91687277  DT.97838554 

    24/80 AceView cDNA sequences (see all 80):

    BC020721 CB157001 CB163632 BG564963 NM_001737 X02176 CB157196 CB162576 
    BG618954 BG618542 AW662752 CB164716 CB135741 BG566972 BG568027 CB137709 
    BX453601 CB139127 BG618466 BG569459 BQ011037 CB146950 CB115360 BG564823 

    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

    C9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCTTAGGG
    C9 Expression
    About this image


    See C9 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C9

    SOURCE GeneReport for Unigene cluster: Hs.654443

    UniProtKB/Swiss-Prot: CO9_HUMAN, P02748
    Tissue specificity: Plasma

        SABiosciences Expression via Pathway-Focused PCR Array including C9: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9

    (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 C9 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C91 , 5 complement component 91, 5 74.7(n)1
    64.14(a)1
      15 (2.79 cM)5
    122791  NM_013485.11  NP_038513.11 
     64453275 
    lizard
    (Anolis carolinensis)
    Reptilia C96
    complement component 9
    41(a)
    1 ↔ 1
    2(7586361-7632592)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC642762 hypothetical protein MGC64276 72.26(n)    BC041747.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570933472   -- 71.71(n)   322405  57093347 


    ENSEMBL Gene Tree for C9 (if available)
    TreeFam Gene Tree for C9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C9 gene
    C62  C8B2  C8A2  C72  
    2 SIMAP similar genes for C9 using alignment to 2 protein entries:     CO9_HUMAN (see all proteins):
    C8A    C8B

    C9 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

    10/1968 SNPs in C9 are shown (see all 1968)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0126484
    Complement component 9 deficiency (C9D)4--see VAR_0126482 C G mis40--------
    rs1219095941,2
    Cpathogenic139251709(-) TGTTTC/GACTCA 2 S * stg10--------
    rs1219095931,2
    Cpathogenic139286227(-) TTCGGT/GGTAAT 2 /G /C mis11Minor allele frequency- G:0.00EU 1323
    rs1219095921,2
    Cpathogenic139286236(-) AGATGC/TGACTT 2 R * stg10--------
    rs340000441,2
    C,Fpathogenic139287072(-) CAATGA/C/TGATCC 2 * C stg15NA EU 6071
    rs1822438241,2
    Cuntested139286164(+) GGGGGA/GACGGG 2 P S mis10--------
    rs1865381541,2
    --39229013(+) TTTTCA/TTGTAG 1 -- ds50010--------
    rs1413445921,2
    --39229049(+) GCAATC/TAAATG 1 -- ds50010--------
    rs750865031,2
    C--39229077(+) GCCAAA/GTGAGA 1 -- ds50010--------
    rs1909030351,2
    --39229158(+) ATACTA/GATGTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for C9 (39284364 - 39424970 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for C9:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2669707CNV Deletion23128226
    esv268626CNV Insertion20981092
    esv1241962CNV Insertion17803354
    esv272189CNV Insertion20981092
    nsv516263CNV Loss19592680
    dgv6038n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): C9

    Locus Specific Mutation Databases (LSDB): C9
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C9
    DNA2.0 Custom Variant and Variant Library Synthesis for C9

    (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: 120940    OMIM disorders: --

    UniProtKB/Swiss-Prot: CO9_HUMAN, P02748
  • Complement component 9 deficiency (C9D) [MIM:613825]: A rare defect of the complement classical pathway
    associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria
    meningitidis. Some patients may develop dermatomyositis. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry

  • 20/28 diseases for C9 (see all 28):    About MalaCards
    complement component 9 deficiency    paroxysmal nocturnal hemoglobinuria    vesiculitis    meningoencephalitis
    hemoglobinuria    prion disease    hepatitis b virus infection    age related macular degeneration
    macular degeneration    dermatomyositis    hepatitis b    meningitis
    intrahepatic cholangiocarcinoma    endometriosis    cholangiocarcinoma    peritonitis
    non-hodgkin lymphoma    hodgkin's lymphoma    infertility    meningioma

    1 disease from the University of Copenhagen DISEASES database for C9:
    Primary amebic meningoencephalitis

    C9 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genatlas disease: C9
    C9 deficiency with rare episodes of neisserial or meningococcal meningitis

    Genetic Association Database (GAD): C9
    Human Genome Epidemiology (HuGE) Navigator: C9 (22 documents)

    Export disorders for C9 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 C9 gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with C9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    2. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    3. 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)
    4. 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)
    5. 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)
    6. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2 Lewandrowski U.... Sickmann A. (2006)
    7. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    8. Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PubMed id 14760718)1, 2 Bunkenborg J.... Wisniewski J.R. (2004)
    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)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 735 HGNC: 1358 AceView: C9 Ensembl:ENSG00000113600 euGenes: HUgn735
    ECgene: C9 Kegg: 735 H-InvDB: C9

    (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 C9 Pharmacogenomics, SNPs, Pathways
    C9basehttp://bioinf.uta.fi/C9base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C9 gene:
    Search GeneIP for patents involving C9

    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: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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