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C9 Gene

protein-coding   GIFtS: 64
GCID: GC05M039320

Complement Component 9

  See C9-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)
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Aliases
Complement Component 91 2
ARMD152 5
C9D2 5
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 c9 deficiency, and primary amebic meningoencephalitis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_006576.17  
Regulatory elements:
   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 Chromatin IP Primers for C9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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

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

Explore proteomics data for C9 at MOPED

Post-translational modifications: 

  • Thrombin cleaves factor C9 to produce C9a and C9b1
  • Phosphorylation sites are present in the extracellular medium1
  • Glycosylation2 at Trp48, Trp51, Asn277, Asn415
  • Modification sites at PhosphoSitePlus

  • See C9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001728.1  
    ENSEMBL proteins: 
     ENSP00000263408  
    Reactome Protein details: P02748

    C9 Human Recombinant Protein Products:

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    Novus Biologicals C9 Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for C9

     
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    C9 Antibody Products:

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    C9 Assay Products:

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    Cloud-Clone Corp. ELISAs for C9
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    Search eBioscience for ELISAs for C9 


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

    Selected InterPro protein domains (see all 7):
     IPR000884 Thrombospondin_1_rpt
     IPR023415 LDLR_class-A_CS
     IPR020864 MACPF
     IPR002172 LDrepeatLR_classA_rpt
     IPR001862 MAC_perforin

    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


    Find genes that share domains with C9           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with C9           About GenesLikeMe


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

    Find genes that share phenotypes with C9           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C9
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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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    Block miRNA regulation of human, mouse, rat C9 using miScript Target Protectors
    6 qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat C9

    Gene Editing
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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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CO9_HUMAN, P02748: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytosol3
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    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 component of plasma membrane TAS2426252

    Find genes that share ontologies with C9           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for C9 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Complement Pathway
    Immune response Lectin Induced complement pathway0.56
    Classical Complement Pathway0.00
    Immune response Classic complement pathway0.56
    Terminal pathway of complement0.00
    Immune response Alternative complement pathway0.56
    Lectin Induced Complement Pathway0.00
    Regulation of Complement cascade0.48
    Alternative Complement Pathway0.00
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement Activation, Classical Pathway0.00
    Complement and Coagulation Cascades0.71
    3Creation of C4 and C2 activators
    Complement cascade0.68
    4RNA Polymerase I Promoter Opening
    Systemic lupus erythematosus0.40
    5Prion diseases
    Prion diseases


    Find genes that share SuperPaths with C9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe 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

    2 Reactome Pathways for C9
        Terminal pathway of complement
    Regulation of Complement cascade


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

        Pathway & Disease-focused RT2 Profiler PCR Array including C9: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for C9

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

    Selected 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 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006957complement activation, alternative pathway IEA--
    GO:0006958complement activation, classical pathway IEA--
    GO:0019836hemolysis by symbiont of host erythrocytes TAS2426252
    GO:0030449regulation of complement activation TAS--
    GO:0045087innate immune response TAS--

    Find genes that share ontologies with C9           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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 qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat C9
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    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
    Primer
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    OriGene qPCR primer pairs and template standards for C9
    OriGene qSTAR qPCR primer pairs in human, mouse for C9
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C9
      QuantiTect SYBR Green Assays in human, mouse, rat C9
      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 

    Selected AceView cDNA sequences (see all 80):

    CB162576 BG618954 AW662752 CB164716 CB157001 CB163632 BG564963 NM_001737 
    CB157196 BG618542 BC020721 X02176 K02766 BG569572 BG568868 CB135741 
    CB137795 CB137642 T50789 CB137674 CB139136 BG567586 CB139114 BX427917 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    C9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654443

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

        Pathway & Disease-focused RT2 Profiler PCR Array including C9: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat C9
    In Situ
    Assay Products:
     

     
    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for C9 gene from Selected 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 72.4(n)1
    61.37(a)1
      15 (2.79 cM)5
    122791  NM_013485.11  NP_038513.11 
     64453275 
    lizard
    (Anolis carolinensis)
    Reptilia C96
    complement component 9
    43(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)
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    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

    Find genes that share paralogs with C9           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for C9 (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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 120940   
    OMIM disorders: 613825  615591  
    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

  • 6 diseases for C9:    
    About MalaCards
    c9 deficiency    primary amebic meningoencephalitis    meningoencephalitis    macular degeneration, age-related, 15, suscepbitility to
    meningococcal meningitis    complement component 5 deficiency

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

    Find genes that share disorders with C9           About GenesLikeMe

    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)
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    PubMed articles for C9 gene, integrated from 10 sources (see all 69):
    (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 related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    2. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 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. (Br. J. Haematol. 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. (Lancet 2008)
    6. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2 Lewandrowski U.... Sickmann A. (Mol. Cell. Proteomics 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. (J. Proteome Res. 2005)
    8. Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PubMed id 14760718)1, 2 Bunkenborg J.... Wisniewski J.R. (Proteomics 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. (Genome Res. 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. (J. Biol. Chem. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 735 HGNC: 1358 AceView: C9 Ensembl:ENSG00000113600 euGenes: HUgn735
    ECgene: C9 Kegg: 735 H-InvDB: C9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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



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