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C5 Gene

protein-coding   GIFtS: 72
GCID: GC09M123714

Complement Component 5

  See C5-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 51 2     C5a2
C5a Anaphylatoxin1 2     C5b2
prepro-C51 2     Anaphylatoxin C5a Analog2
CPAMD42 3     Complement C52
C3 And PZP-Like Alpha-2-Macroglobulin Domain-Containing Protein 42 3     

External Ids:    HGNC: 13311   Entrez Gene: 7272   Ensembl: ENSG000001068047   OMIM: 1209005   UniProtKB: P010313   

Export aliases for C5 gene to outside databases

Previous GC identifers: GC09M114819 GC09M115361 GC09M117168 GC09M119090 GC09M120794 GC09M122754 GC09M093332


(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 C5 Gene:
The protein encoded by this gene is the fifth component of complement, which plays an important role in
inflammatory and cell killing processes. This protein is comprised of alpha and beta polypeptide chains that are
linked by a disulfide bridge. An activation peptide, C5a, which is an anaphylatoxin that possesses potent
spasmogenic and chemotactic activity, is derived from the alpha polypeptide via cleavage with a convertase. The
C5b macromolecular cleavage product can form a complex with the C6 complement component, and this complex is the
basis for formation of the membrane attack complex, which includes additional complement components. Mutations in
this gene cause complement component 5 deficiency, a disease where patients show a propensity for severe
recurrent infections. Defects in this gene have also been linked to a susceptibility to liver fibrosis and to
rheumatoid arthritis. (provided by RefSeq, Jul 2008)

GeneCards Summary for C5 Gene:
C5 (complement component 5) is a protein-coding gene. Diseases associated with C5 include eculizumab, poor response to, and complement component 5 deficiency. GO annotations related to this gene include endopeptidase inhibitor activity and receptor binding. An important paralog of this gene is A2M.

UniProtKB/Swiss-Prot: CO5_HUMAN, P01031
Function: Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement
components, C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex
is the foundation upon which the lytic complex is assembled
Function: Derived from proteolytic degradation of complement C5, C5 anaphylatoxin is a mediator of local
inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes
histamine release from mast cells and basophilic leukocytes. C5a also stimulates the locomotion of
polymorphonuclear leukocytes (chemokinesis) and direct their migration toward sites of inflammation (chemotaxis)

Gene Wiki entry for C5 (Complement component 5) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the C5 gene promoter:
         PPAR-gamma1   POU2F1   HNF-1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   PPAR-gamma2   POU3F2   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC5 promoter sequence
   Search Chromatin IP Primers for C5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C5


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

Entrez Gene cytogenetic band: 9q33-q34   Ensembl cytogenetic band:  9q33.2   HGNC cytogenetic band: 9q33-q34

C5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M123714:  view genomic region     (about GC identifiers)

Start:
123,714,613 bp from pter      End:
123,812,554 bp from pter
Size:
97,942 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: CO5_HUMAN, P01031 (See protein sequence)
Recommended Name: Complement C5 precursor  
Size: 1676 amino acids; 188305 Da
Subunit: C5 precursor is first processed by the removal of 4 basic residues, forming two chains, beta and alpha,
linked by a disulfide bond. C5 convertase activates C5 by cleaving the alpha chain, releasing C5a anaphylatoxin
and generating C5b (beta chain + alpha' chain). Interacts with tick complement inhibitor
Selected PDB 3D structures from and Proteopedia for C5 (see all 12):
1CFA (3D)        1KJS (3D)        1XWE (3D)        3CU7 (3D)        3HQA (3D)        3HQB (3D)    
Secondary accessions: Q14CJ0 Q27I61

Explore the universe of human proteins at neXtProt for C5: NX_P01031

Explore proteomics data for C5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1305
  • Glycosylation2 at Asn741, Asn911, Asn1115, Asn1630
  • Modification sites at PhosphoSitePlus

  • See C5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001726.2  
    ENSEMBL proteins: 
     ENSP00000223642  
    Reactome Protein details: P01031

    C5 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for C5
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    Novus Biologicals C5 Lysate
    Sino Biological Recombinant Protein for C5
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for C5
    Cloud-Clone Corp. Proteins for C5

     
    Search eBioscience for Proteins for C5 

    C5 Antibody Products:

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    C5 Assay Products:

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    Cloud-Clone Corp. ELISAs for C5
    Cloud-Clone Corp. CLIAs for C5
    Search eBioscience for ELISAs for C5 


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

    Selected InterPro protein domains (see all 12):
     IPR008993 TIMP-like_OB-fold
     IPR001599 Macroglobln_a2
     IPR011626 A2M_comp
     IPR002890 A2M_N
     IPR009048 A-macroglobulin_rcpt-bd

    Graphical View of Domain Structure for InterPro Entry P01031

    ProtoNet protein and cluster: P01031

    5 Blocks protein domains:
    IPB001134 Netrin
    IPB001599 Alpha-2-macroglobulin
    IPB001840 Anaphylatoxin domain signature
    IPB002890 Alpha-2-macroglobulin
    IPB009048 Alpha-macroglobulin


    UniProtKB/Swiss-Prot: CO5_HUMAN, P01031
    Similarity: Contains 1 anaphylatoxin-like domain
    Similarity: Contains 1 NTR domain


    Find genes that share domains with C5           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: CO5_HUMAN, P01031
    Function: Activation of C5 by a C5 convertase initiates the spontaneous assembly of the late complement
    components, C5-C9, into the membrane attack complex. C5b has a transient binding site for C6. The C5b-C6 complex
    is the foundation upon which the lytic complex is assembled
    Function: Derived from proteolytic degradation of complement C5, C5 anaphylatoxin is a mediator of local
    inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes
    histamine release from mast cells and basophilic leukocytes. C5a also stimulates the locomotion of
    polymorphonuclear leukocytes (chemokinesis) and direct their migration toward sites of inflammation (chemotaxis)

         Genatlas biochemistry entry for C5:
    complement component 5,glycoprotein,180kDa,initiating after activation the assembly of the late complement
    components C5-C9,into the membrane attack complex

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004866endopeptidase inhibitor activity IEA--
    GO:0005102receptor binding TAS10820279
    GO:0005515protein binding IPI--
    GO:0008009chemokine activity TAS10820279
    GO:0031714C5a anaphylatoxin chemotactic receptor binding IEA--
         
    Find genes that share ontologies with C5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for C5:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Hc):
     homeostasis/metabolism  immune system  normal  respiratory system  skeleton 

    Find genes that share phenotypes with C5           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C5

    miRNA
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    miRTarBase miRNAs that target C5:
    hsa-mir-10a-5p (MIRT047564), hsa-mir-193b-3p (MIRT016535)

    Block miRNA regulation of human, mouse, rat C5 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate C5:
    hsa-miR-498 hsa-miR-4307 hsa-miR-205* hsa-miR-4263
    SwitchGear 3'UTR luciferase reporter plasmidC5 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for C5
    Predesigned siRNA for gene silencing in human, mouse, rat C5

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for C5

    Clone
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    OriGene ORF clones in mouse, rat for C5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): C5 (NM_001168)
    Sino Biological Human cDNA Clone for C5
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for C5 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5


    (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
    CO5_HUMAN, P01031: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane3
    endoplasmic reticulum2
    cytoskeleton1
    cytosol1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005579membrane attack complex IEA--
    GO:0005615extracellular space IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with C5           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 C5 About   (see all 10)  
    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
    Lectin Induced Complement Pathway0.00
    Immune response Alternative complement pathway0.56
    Activation of C3 and C50.00
    Regulation of Complement cascade0.48
    Terminal pathway of complement0.00
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement Activation, Classical Pathway0.00
    3Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    G alpha (i) signalling events0.44
    4Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    5Creation of C4 and C2 activators
    Complement cascade0.68


    Find genes that share SuperPaths with C5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for C5
        Alternative Complement Pathway
    Classical Complement Pathway
    Lectin Induced Complement Pathway
    Complement Pathway

    3 GeneGo (Thomson Reuters) Pathways for C5
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    1 BioSystems Pathway for C5
        Complement Activation, Classical Pathway

    1 Sino Biological Pathway for C5
        Complement Activation Pathways

    5 Reactome Pathways for C5
        Peptide ligand-binding receptors
    G alpha (i) signalling events
    Terminal pathway of complement
    Regulation of Complement cascade
    Activation of C3 and C5


    Selected Kegg Pathways  (Kegg details for C5) (see all 6):
        Complement and coagulation cascades
    Prion diseases
    Pertussis
    Staphylococcus aureus infection
    Herpes simplex infection

        Pathway & Disease-focused RT2 Profiler PCR Arrays including C5: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Inflammatory Cytokines & Receptors in human mouse rat
              Cytokines & Chemokines in human mouse rat
              Common Cytokines in human mouse rat
              Chemokines & Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for C5

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

    Selected Interacting proteins for C5 (P010311, 2, 3 ENSP000002236424) via UniProtKB, MINT, STRING, and/or I2D (see all 167)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C3P010242, 3, ENSP000002459074MINT-8143443 I2D: score=2 STRING: ENSP00000245907
    ENSG00000231543P066813, ENSP000004079614I2D: score=1 STRING: ENSP00000407961
    C2P066813, ENSP000002993674I2D: score=1 STRING: ENSP00000299367
    ENSG00000204364P066813I2D: score=1 
    ENSG00000206372P066813I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity TAS7649993
    GO:0001701in utero embryonic development IEA--
    GO:0002523leukocyte migration involved in inflammatory response IEA--
    GO:0006874cellular calcium ion homeostasis IEA--
    GO:0006935chemotaxis TAS10820279

    Find genes that share ontologies with C5           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 C5 (CO5)

    2 DrugBank Compounds for C5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Eculizumab-- 219685-50-4targetantibody20378572 20011245 16990386 17139284 18784156 11752352 19399743 17016423 17702897 17989688
    Intravenous ImmunoglobulinIg alpha-2 chain C region (see all 3)9007-83-4targetbinder17351760 20441428 17911465

    3 Novoseek inferred chemical compound relationships for C5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anaphylatoxin 81.7 3 9642242 (1), 11487475 (1)
    chloramine t 65.8 9 1542301 (5)
    methionine 21.6 6 1542301 (4), 1592429 (1)

    1 PharmGKB related drug/compound annotation for C5 gene    About this table
    Drug/compound PharmGKB Annotation
    eculizumabCA  



    Find genes that share compounds with C5           About GenesLikeMe



    (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 C5 gene: 
    NM_001735.2  

    Unigene Cluster for C5:

    Complement component 5
    Hs.494997  [show with all ESTs]
    Unigene Representative Sequence: AB209031
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000223642(uc004bkv.3 uc010mvm.1 uc010mvn.1) ENST00000480188
    ENST00000489802 ENST00000466280 ENST00000460578
    miRNA
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    Block miRNA regulation of human, mouse, rat C5 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate C5:
    hsa-miR-498 hsa-miR-4307 hsa-miR-205* hsa-miR-4263
    SwitchGear 3'UTR luciferase reporter plasmidC5 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): C5 (NM_001168)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C5
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat C5
      QuantiFast Probe-based Assays in human, mouse, rat C5

    Additional mRNA sequence: 

    AB209031.1 AK310774.1 AK310780.1 BC022299.1 BC113738.1 BC113740.1 M57729.1 M65134.1 

    12 DOTS entries:

    DT.214209  DT.121202620  DT.214210  DT.100796054  DT.75125468  DT.406760  DT.121202646  DT.91905632 
    DT.92424841  DT.92424842  DT.97804026  DT.40119812 

    Selected AceView cDNA sequences (see all 111):

    AV682721 AI767917 CB138210 AA780059 BQ643579 BX503344 NM_001735 N49110 
    AV648298 R29419 AA329952 BX117573 AW516545 BX102574 AI685025 AW052047 
    M65134 AV648490 CB162771 N50222 BX495412 BQ072502 AA565539 AI522067 

    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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    C5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTTTGCTT
    C5 Expression
    About this image


    C5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced MEL2 cells
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Definitive endoderm-like cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             HyStem+BMP4-induced SM30 cells
     
     Neural Crest (Gastrulation Derivatives)
             PureStem MEL2, NCr-fac Progenitor
     
     Primitive Streak (Early Embryonic Tissues)
             Primitive streak-like cells
    C5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.494997
        Pathway & Disease-focused RT2 Profiler PCR Arrays including C5: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Inflammatory Cytokines & Receptors in human mouse rat
              Cytokines & Chemokines in human mouse rat
              Common Cytokines in human mouse rat
              Chemokines & Receptors in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for C5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C5
    QuantiTect SYBR Green Assays in human, mouse, rat C5
    QuantiFast Probe-based Assays in human, mouse, rat C5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5

    (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 C5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hc1 , 5 hemolytic complement1, 5 81.13(n)1
    77.91(a)1
      2 (23.22 cM)5
    151391  NM_010406.21  NP_034536.11 
     349833315 
    chicken
    (Gallus gallus)
    Aves C51 complement component 5 63.65(n)
    55.58(a)
      417122  XM_415405.4  XP_415405.4 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia c51 complement component 5 55.34(n)
    47.68(a)
      100485433  NM_001204059.1  NP_001190988.1 
    zebrafish
    (Danio rerio)
    Actinopterygii c51 complement component 5 51.05(n)
    40.27(a)
      565774  XM_001919191.5  XP_001919226.4 


    ENSEMBL Gene Tree for C5 (if available)
    TreeFam Gene Tree for C5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C5 gene
    A2M2  C32  C4B2  C4A2  A2ML12  PZP2  CPAMD82  CD1092  
    1 SIMAP similar gene for C5 using alignment to 2 protein entries:     CO5_HUMAN (see all proteins):
    C3

    Find genes that share paralogs with C5           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 C5 (see all 1935)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219095881,2
    Cpathogenic1123737362(-) GTGTAC/TGATTC 2 R * stg11Minor allele frequency- T:0.00NA 4546
    rs1219095871,2
    C,Fpathogenic1123824817(-) GGGGAC/TAGGAG 2 Q * stg11Minor allele frequency- T:0.00NA 4550
    rs413140471,2
    C,F--93332692(-) AAAAA-/ATAAAG 1 -- int13Minor allele frequency- A:0.12NS CSA 92
    rs413136111,2
    C,F--93339048(-) AACACC/-AGCAA 1 -- int12Minor allele frequency- -:0.33NS 84
    rs413136051,2
    C,F--93339837(-) TTTTT-/TATTCC 1 -- int13Minor allele frequency- T:0.35NS CSA 96
    rs413128911,2
    C,F--93344228(-) GTTTG-/TTTG  
            
    CTTTT
    1 -- int13Minor allele frequency- TTTG:0.04NS CSA 96
    rs1378639411,2
    C--93367431(+) AAAAT-/TAAAG 
            
    TATTC
    1 -- int10--------
    rs783028011,2
    C--93367435(+) TTAAAG/TTATTC 1 -- int10--------
    rs666529561,2
    C--93375572(+) ATACTT/-TTTTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs763212821,2
    C--93416856(+) ACTCA-/CCACTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for C5 (123714613 - 123812554 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for C5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv507529CNV Insertion20534489
    nsv893812CNV Loss21882294
    nsv893811CNV Gain21882294
    nsv893810CNV Gain21882294
    dgv2419e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): C5
    Locus Specific Mutation Databases (LSDB): C5

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C5
    DNA2.0 Custom Variant and Variant Library Synthesis for C5

    (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: 120900   
    OMIM disorders: 609536  
    UniProtKB/Swiss-Prot: CO5_HUMAN, P01031
  • Complement component 5 deficiency (C5D) [MIM:609536]: A rare defect of the complement classical pathway
    associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or
    Neisseria meningitidis. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=An association study of C5 haplotypes and genotypes in individuals with chronic hepatitis C virus
    infection shows that individuals homozygous for the C5_1 haplotype have a significantly higher stage of liver
    fibrosis than individuals carrying at least 1 other allele (PubMed:15995705)

  • 10 diseases for C5:    
    About MalaCards
    eculizumab, poor response to    complement component 5 deficiency    xanthogranulomatous pyelonephritis    rapidly progressive glomerulonephritis
    pneumococcal meningitis    dense deposit disease    meningoencephalitis    acute poststreptococcal glomerulonephritis
    complement deficiency    rheumatoid arthritis

    1 disease from the University of Copenhagen DISEASES database for C5:
    Complement deficiency

    Find genes that share disorders with C5           About GenesLikeMe

    Genatlas disease: C5
    neisserial recurrent infections,lupus systemic syndrome

    Genetic Association Database (GAD): C5
    Human Genome Epidemiology (HuGE) Navigator: C5 (74 documents)

    Export disorders for C5 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 C5 gene, integrated from 10 sources (see all 216):
    (articles sorted by number of sources associating them with C5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variations in the C3, C3a receptor, and C5 genes affect susceptibility to bronchial asthma. (PubMed id 15278436)1, 4, 9 Hasegawa K....Suzuki Y. (Hum. Genet. 2004)
    2. Endometriosis and autoimmune disease: association of susceptibility to moderate/severe endometriosis with CCL21 and HLA-DRB1. (PubMed id 20797713)1, 4 Sundqvist J....D'Hooghe T.M. (Fertil. Steril. 2011)
    3. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PubMed id 20962850)1, 4 Budarf M.L....Rioux J.D. (Genes Immun. 2011)
    4. Lack of association between TRAF1/C5 gene polymorphisms and biopsy-proven giant cell arteritis. (PubMed id 19918040)1, 4 Torres O....Gonzalez-Gay M.A. (J. Rheumatol. 2010)
    5. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    6. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    7. Single nucleotide polymorphisms of complement component 5 and periodontitis. (PubMed id 19909405)1, 4 Chai L....Leung W.K. (J. Periodont. Res. 2010)
    8. Lack of association of PTPN22, STAT4 and TRAF1/C5 gene polymorphisms with cardiovascular risk in rheumatoid arthritis. (PubMed id 20822712)1, 4 Palomino-Morales R....Gonzalez-Gay M.A. (Clin. Exp. Rheumatol. 2010)
    9. 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)
    10. Independent predictive roles of eotaxin Ala23Thr, paraoxonase 2 Ser311Cys and beta-adrenergic receptor Trp64Arg polymorphisms on cardiac disease in Type 2 Diabetes--an 8-year prospective cohort analysis of 1297 patients. (PubMed id 20536507)1, 4 Wang Y....Chan J.C. (Diabet. Med. 2010)

    (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: 727 HGNC: 1331 AceView: C5 Ensembl:ENSG00000106804 euGenes: HUgn727
    ECgene: C5 Kegg: 727 H-InvDB: C5

    (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 C5 Pharmacogenomics, SNPs, Pathways
    C5basehttp://bioinf.uta.fi/C5base/
    Wikipedia http://en.wikipedia.org/wiki/Complement_component_5
    SeattleSNPshttp://pga.gs.washington.edu/data/c5/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C5 gene:
    Search GeneIP for patents involving C5

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



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