Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

C2 Gene

protein-coding   GIFtS: 68
GCID: GC06P031865

Complement Component 2

  See related diseases
at  

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

Aliases
Complement Component 21 2     Complement C22
C3/C5 Convertase2 3     Complement Component C22
EC 3.4.21.433 8     EC 3.4.218
CO22     

External Ids:    HGNC: 12481   Entrez Gene: 7172   Ensembl: ENSG000001662787   OMIM: 6139275   UniProtKB: P066813   

Export aliases for C2 gene to outside databases

Previous GC identifers: GC06P031957 GC06P031636 GC06P031999 GC06P032003 GC06P031682


(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 C2 Gene:
Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system.
Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to
create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases
and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This
gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing
results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been
described in publications but their full-length sequence has not been determined.(provided by RefSeq, Mar 2009)

GeneCards Summary for C2 Gene: 
C2 (complement component 2) is a protein-coding gene. Diseases associated with C2 include complement component c2 deficiency, and complement component 2 deficiency, and among its related super-pathways are Complement Pathway and Immune response Lectin induced complement pathway. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is ENSG00000244255.

UniProtKB/Swiss-Prot: CO2_HUMAN, P06681
Function: Component C2 which is part of the classical pathway of the complement system is cleaved by activated
factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor 4b to
generate the C3 or C5 convertase

Gene Wiki entry for C2 (Complement component 2) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C2 gene promoter:
         C/EBPbeta   AP-1   MyoD   c-Jun   IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC2 promoter sequence
   Search SABiosciences Chromatin IP Primers for C2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

C2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P031865:  view genomic region     (about GC identifiers)

Start:
31,865,562 bp from pter      End:
31,913,449 bp from pter
Size:
47,888 bases      Orientation:
plus strand

6 alternative locations:
Chr6+,NT_167249 3,228,026-3,246,159      Chr6+,NT_167247 3,248,659-3,293,293      Chr6+,NT_167245 3,154,358-3,199,037     
Chr6+,NT_167246 3,238,324-3,256,269      Chr6+,NT_113891.2 3,378,530-3,423,205      Chr6+,NT_167248 3,162,568-3,207,243     

(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: CO2_HUMAN, P06681 (See protein sequence)
Recommended Name: Complement C2 precursor  
Size: 752 amino acids; 83268 Da
Subunit: C2a interacts with Schistosoma haematobium TOR (via N-terminal extracellular domain). This results in
inhibition of the classical and lectin pathway of complement activation, probably due to interference with
binding of C2a to C4b such that C3 convertase cannot be formed. This infers resistance to complement-mediated
cell lysis, allowing parasite survival and infection
Subcellular location: Secreted
Miscellaneous: C2 is a major histocompatibility complex class-III protein
5 PDB 3D structures from and Proteopedia for C2:
2I6Q (3D)        2I6S (3D)        2ODP (3D)        2ODQ (3D)        3ERB (3D)    
Secondary accessions: B4DPF3 B4DV20 E9PFN7 O19694 Q13904
Alternative splicing: 3 isoforms:  P06681-1   P06681-2   P06681-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C2: NX_P06681

Explore proteomics data for C2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P06681

  • 4/34 DME Specific Peptides for C2 (P06681) (see all 34)
     VLTAAHC  LRGSPVR  GVWSGTE  KALHQVF 

    C2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C2 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_000054.2  NP_001139375.1  NP_001171534.1  NP_001269386.1  NP_001269387.1  NP_001269388.1  

    ENSEMBL proteins: 
     ENSP00000418923   ENSP00000417482   ENSP00000392322   ENSP00000406121   ENSP00000388727  
     ENSP00000403325   ENSP00000420305   ENSP00000299367   ENSP00000395683   ENSP00000391354  
     ENSP00000406190   ENSP00000418332   ENSP00000372664   ENSP00000419048   ENSP00000417790  
    Reactome Protein details: P06681
    Human Recombinant Protein Products for C2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for C2 (Complement Component C2)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for C2
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for C2
    GenScript Custom Purified and Recombinant Proteins Services for C2
    Novus Biologicals C2 Proteins
    Novus Biologicals C2 Lysates
    Sino Biological Recombinant Protein for C2
    Sino Biological Cell Lysate for C2 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for C2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space TAS8621452

    C2 for ontologies           About GeneDecksing



    C2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for C2 (Complement Component C2b, Complement Component C2)
    OriGene Antibodies for C2
    OriGene Custom Antibody Services for C2
    GenScript Superior Antibodies for C2
    Novus Biologicals C2 Antibodies
    Abcam antibodies for C2
    Cloud-Clone Corp. Antibodies for C2 
    ThermoFisher Antibodies for C2
    LSBio Antibodies in human, mouse, rat for C2 

    Assay Products for C2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for C2
    Browse R&D Systems for biochemical assays
    GenScript C2-Activity-based Protease Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for C2 
    Cloud-Clone Corp. CLIAs for C2


    (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

    5/7 InterPro protein domains (see all 7):
     IPR001314 Peptidase_S1A
     IPR009003 Trypsin-like_Pept_dom
     IPR000436 Sushi_SCR_CCP
     IPR011360 Compl_C2_B
     IPR001254 Peptidase_S1

    Graphical View of Domain Structure for InterPro Entry P06681

    ProtoNet protein and cluster: P06681

    4 Blocks protein domains:
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB002035 Von Willebrand factor type A domain signature


    UniProtKB/Swiss-Prot: CO2_HUMAN, P06681
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 peptidase S1 domain
    Similarity: Contains 3 Sushi (CCP/SCR) domains
    Similarity: Contains 1 VWFA domain


    C2 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: CO2_HUMAN, P06681
    Function: Component C2 which is part of the classical pathway of the complement system is cleaved by activated
    factor C1 into two fragments: C2b and C2a. C2a, a serine protease, then combines with complement factor 4b to
    generate the C3 or C5 convertase
    Catalytic activity: Selective cleavage of Arg- -Ser bond in complement component C3 alpha-chain to form C3a and
    C3b, and Arg- -Xaa bond in complement component C5 alpha-chain to form C5a and C5b

         Genatlas biochemistry entry for C2:
    complement component 2,110kDa,activated by C1r to form C2a and C2b,combining with C4A and C4B to form C3/C5
    convertase,classical pathway of C3 activation

         Enzyme Numbers (IUBMB): EC 3.4.21.431 2 EC 3.4.212

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
         
    C2 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C2
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate C2:
    hsa-miR-3190 hsa-miR-3153 hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidC2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for C2
    Sirion Biotech Customized adenovirus for overexpression of C2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for C2 (see all 18)
    OriGene ORF clones in mouse, rat for C2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C2 (NM_001151)
    Sino Biological Human cDNA Clone for C2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2
    Sirion Biotech Customized lentivirus for stable overexpression of C2 
                         Customized lentivirus expression plasmids for stable overexpression of C2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for C2
    Search LifeMap BioReagents cell lines for C2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2


    (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 C2 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Classical Complement Pathway
    Classical Complement Pathway0.75
    Lectin Induced Complement Pathway0.65
    Complement Pathway0.75
    Complement Activation Pathways0.31
    Complement Activation, Classical Pathway0.68
    2Immune response Lectin induced complement pathway
    Immune response Lectin induced complement pathway0.56
    Immune response Classical complement pathway0.52
    Immune response Lectin Induced complement pathway0.56
    Regulation of Complement cascade0.50
    Immune response Classic complement pathway0.53
    3Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    4Classical antibody-mediated complement activation
    Initial triggering of complement0.86
    Complement cascade0.76
    5Immune System
    Immune System0.56
    Innate Immune System0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for C2
        Immune response Classic complement pathway
    Immune response Lectin Induced complement pathway

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for C2
        Classical Complement Pathway
    Lectin Induced Complement Pathway
    Complement Pathway

    2 GeneGo (Thomson Reuters) Pathways for C2
        Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    2 BioSystems Pathways for C2
        Complement Activation, Classical Pathway
    Complement and Coagulation Cascades

    1 Sino Biological Pathway for C2 
        Complement Activation Pathways

    5/6        Reactome Pathways for C2 (see all 6)
        Regulation of Complement cascade
    Activation of C3 and C5
    Complement cascade
    Immune System
    Initial triggering of complement


    4         Kegg Pathways  (Kegg details for C2):
        Complement and coagulation cascades
    Pertussis
    Staphylococcus aureus infection
    Systemic lupus erythematosus


    C2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C2

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

    5/9 Interacting proteins for C2 (P066813 ENSP000002993674) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C4BP0C0L53, ENSP000004159414I2D: score=1 STRING: ENSP00000415941
    C3P010243, ENSP000002459074I2D: score=1 STRING: ENSP00000245907
    C4B_2P0C0L53I2D: score=1 
    C5P010313, ENSP000002236424I2D: score=1 STRING: ENSP00000223642
    PSMA4P257893, ENSP000000444624I2D: score=2 STRING: ENSP00000044462
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0006956complement activation TAS--
    GO:0006958complement activation, classical pathway IEA--
    GO:0030449regulation of complement activation TAS--
    GO:0045087innate immune response TAS--

    C2 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

    C2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C2 (CO2)

    1 Novoseek inferred chemical compound relationship for C2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 45.8 9 7963526 (2), 9748277 (2), 1607651 (1), 14748705 (1)

    Search CenterWatch for drugs/clinical trials and news about C2 / CO2

    (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 C2 gene (6 alternative transcripts): 
    NM_000063.5  NM_001145903.2  NM_001178063.2  NM_001282457.1  NM_001282458.1  NM_001282459.1  

    Unigene Cluster for C2:

    Complement component 2
    Hs.408903  [show with all ESTs]
    Unigene Representative Sequence: NM_000063
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469372(uc011doo.2) ENST00000497706(uc003nyc.2) ENST00000452323(uc011dop.2)
    ENST00000452202 ENST00000411571 ENST00000413154 ENST00000484636 ENST00000299367(uc003nyf.3 uc010jtk.3 uc011doq.2)
    ENST00000442278 ENST00000447952 ENST00000418949(uc003nye.4) ENST00000482060
    ENST00000383177 ENST00000494905 ENST00000485690 ENST00000486124(uc003nyh.2)
    ENST00000468407
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C2
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate C2:
    hsa-miR-3190 hsa-miR-3153 hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidC2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C2
    Clone
    Products:
         
    OriGene clones in human, mouse for C2 (see all 18)
    OriGene ORF clones in mouse, rat for C2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C2 (NM_001151)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2
    Sirion Biotech Customized lentivirus for stable overexpression of C2 
                         Customized lentivirus expression plasmids for stable overexpression of C2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for C2
    OriGene qSTAR qPCR primer pairs in human, mouse for C2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2

    Additional mRNA sequence: 

    AK096258.1 AK222537.1 AK222783.1 AK298311.1 AK298808.1 AK300892.1 AK307930.1 AK312581.1 
    BC043484.1 NR_073063.1 X04481.1 

    17 DOTS entries:

    DT.100816012  DT.102841832  DT.75145439  DT.100025976  DT.100816017  DT.100816011  DT.99978913  DT.95080241 
    DT.121361722  DT.100816015  DT.100816018  DT.121361349  DT.121361449  DT.97781091  DT.121361340  DT.40106272 
    DT.91905562 

    24/232 AceView cDNA sequences (see all 232):

    BX438898 AI114853 BF447423 BF941121 BU739202 NM_000063 AI052452 BM717640 
    CD607269 AI984134 T29142 CA308468 BM678058 BP337989 BX479700 AU103440 
    AA337284 BQ653772 BU626325 BQ883026 CR620914 CA428014 BU731438 AW129939 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for C2 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ·
    SP1:                                                  -     -                                         -           -                 -                           
    SP2:                                                                                -     -     -     -           -                 -                           
    SP3:                                                                                                                                -                           
    SP4:                                -     -     -     -     -                       -     -     -     -     -     -                 -                           
    SP5:                                -     -     -     -     -                                         -           -                 -                           

    ExUns: 14c ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:                                                
    SP2:                                                
    SP3:                                      -         
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for C2

    (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

    C2 expression in normal human tissues (normalized intensities)      C2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    C2 Expression
    About this image


    C2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Proximal Tubule Cells Proximal Tubule
             Proximal Tubule
             visceral organ/metanephros/renal cortex   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             bronchus ; respiratory epithelial cells   
             alveolar macrophages   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Breast (Uncategorized)    fully expand to see all 2 entries
             breast ; myoepithelial cells   

    See C2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C2

    SOURCE GeneReport for Unigene cluster: Hs.408903
        SABiosciences Custom PCR Arrays for C2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for C2
    OriGene qSTAR qPCR primer pairs in human, mouse for C2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2

    (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 C2 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C21 , 5 complement component 2 (within H-2S)1, 5 79.32(n)1
    76.34(a)1
      17 (18.41 cM)5
    122631  NM_013484.21  NP_038512.21 
     348564125 
    chicken
    (Gallus gallus)
    Aves C21 complement component 2 54.74(n)
    44.82(a)
      419574  XM_417722.3  XP_417722.3 
    zebrafish
    (Danio rerio)
    Actinopterygii NM_131338.12   -- 73.35(n)   30604  NM_131338.1 


    ENSEMBL Gene Tree for C2 (if available)
    TreeFam Gene Tree for C2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C2 gene
    ENSG000002442552  CFB2  
    5 SIMAP similar genes for C2 using alignment to 17 protein entries:     CO2_HUMAN (see all proteins):
    DKFZp779M0311    CFB    KLK13    BF    CSMD1

    C2 for paralogs           About GeneDecksing



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

    UniProtKB/Swiss-Prot: CO2_HUMAN, P06681
    Polymorphism: The variant Asp-318 is associated with a reduced risk of age-related macular degeneration (ARMD)
    [MIM:603075]. ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the
    developed world


    10/776 SNPs in C2 are shown (see all 776)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0085444
    Complement component 2 deficiency (C2D)4--see VAR_0085442 C Y mis40--------
    VAR_0085464
    Complement component 2 deficiency (C2D)4--see VAR_0085462 G R mis40--------
    rs289345901,2,4
    CComplement component 2 deficiency (C2D)4 untested131818973(+) CTACTC/TTTATG 7 S F mis1 int1 ese30--------
    rs93327391,2,4
    C,F,Hprobable-pathogenic131821124(+) ACTGAG/CGTGAT 6 /D /E mis1 int1 ese329Minor allele frequency- C:0.03NS EA MN NA EU 8565
    rs1457999391,2
    Cuntested131822491(+) AATGCG/AACTCC 7 /Q /R mis11Minor allele frequency- A:0.00NA 4542
    rs1899993211,2
    --31810574(+) GTTGGC/TCAGGC 2 -- us2k10--------
    rs1160759201,2
    C,F--31810681(+) CTTTCG/AATATC 2 -- us2k11Minor allele frequency- A:0.06WA 118
    rs1391862811,2
    C--31810727(+) TCAGAC/TGTTAC 2 -- us2k10--------
    rs1499849711,2
    --31811083(+) TCCAGC/TCCATG 2 -- us2k10--------
    rs27343351,2
    C,F,A,H--31811241(-) gaacaT/Cacagt 2 -- us2k149Minor allele frequency- C:0.39NS EA NA MN WA CSA 4729

    HapMap Linkage Disequilibrium report for C2 (31865562 - 31913449 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/30 variations for C2 (see all 30):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2663182CNV Deletion23128226
    esv2731824CNV Deletion23290073
    esv2658525CNV Deletion23128226
    esv2422045CNV Deletion20811451
    nsv509126CNV Insertion20534489
    nsv884511CNV Loss21882294
    dgv6598n71CNV Loss21882294
    dgv6597n71CNV Loss21882294
    dgv6596n71CNV Loss21882294
    nsv10823CNV Loss18304495


    Human Gene Mutation Database (HGMD): C2

    Locus Specific Mutation Databases (LSDB): C2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C2
    DNA2.0 Custom Variant and Variant Library Synthesis for C2

    (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: 613927    OMIM disorders: --

    UniProtKB/Swiss-Prot: CO2_HUMAN, P06681
  • Complement component 2 deficiency (C2D) [MIM:217000]: A rare defect of the complement classical pathway
    associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint
    manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency
    are also reported to have recurrent invasive infections. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 20/30 diseases for C2 (see all 30):    About MalaCards
    complement component c2 deficiency    complement component 2 deficiency    coronary artery aneurysm    retinal drusen
    age related macular degeneration    complement deficiency    macular degeneration    kawasaki disease
    retinal disease    eye disease    polymyositis    choroiditis
    pertussis    purpura    hepatitis b virus infection    systemic lupus erythematosus
    coronary heart disease    retinitis    non-hodgkin lymphoma    hodgkin's lymphoma

    1 disease from the University of Copenhagen DISEASES database for C2:
    Age related macular degeneration

    C2 for disorders           About GeneDecksing

    Genatlas disease: C2
    Henoch-Schonlein purpura susceptibility,lupus systemic discoid syndrome,polymyositis susceptibility (C2
    deficiency,type I)

    Genetic Association Database (GAD): C2
    Human Genome Epidemiology (HuGE) Navigator: C2 (175 documents)

    Export disorders for C2 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 C2 gene, integrated from 9 sources (see all 128):
    (articles sorted by number of sources associating them with C2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. (PubMed id 16518403)1, 2, 4 Gold B.... Allikmets R. (2006)
    2. A novel type II complement C2 deficiency allele in an African- American family. (PubMed id 9670930)1, 2, 9 Zhu Z.B.... Volanakis J.E. (1998)
    3. Structure of the human C2 gene. (PubMed id 8326124)1, 2, 9 Ishii Y.... Volanakis J.E. (1993)
    4. Common variants near FRK/COL10A1 and VEGFA are associ ated with advanced age-related macular degeneration. (PubMed id 21665990)1, 4 Yu Y....Seddon J.M. (2011)
    5. A genome-wide association study of hepatitis B vaccine response in an Indonesian population reveals multiple independent risk variants in the HLA region. (PubMed id 21764829)1, 4 Png E....Seielstad M. (2011)
    6. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    7. Host determinants of HIV-1 control in African America ns. (PubMed id 20205591)1, 4 Pelak K....Weintrob A.C. (2010)
    8. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    9. Simultaneous Mutation Detection in 90 Retinal Disease Genes in Multiple Patients Using a Custom-designed 300-kb Retinal Resequencing Chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (2010)
    10. Progression of geographic atrophy and genotype in age -related macular degeneration. (PubMed id 20381870)1, 4 Klein M.L....Ott J. (2010)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 717 HGNC: 1248 AceView: C2 Ensembl:ENSG00000166278 euGenes: HUgn717
    ECgene: C2 Kegg: 717 H-InvDB: C2

    (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 C2 Pharmacogenomics, SNPs, Pathways
    C2basehttp://bioinf.uta.fi/C2base/
    SeattleSNPshttp://pga.gs.washington.edu/data/c2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C2 gene:
    Search GeneIP for patents involving C2

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



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

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

      
     Antibodies for C2 (Complement Component C2b)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Recombinant/Natural Proteins for C2 (Complement Component C2)  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for C2   OriGene RNAi products in human, mouse, rat for C2  
     OriGene qPCR primer pairs and template standards for C2   OriGene Protein Over-expression Lysate for C2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for C2  
     OriGene qSTAR qPCR primer pairs in human, mouse for C2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for C2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for C2   OriGene Custom Protein Services for C2  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C2
     QIAGEN SeqTarget long-range PCR primers for resequencing C2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C2
     GenScript Custom Purified and Recombinant Proteins Services for C2 GenScript cDNA clones with any tag delivered in your preferred vector for C2
     GenScript C2-Activity-based typehere Assay for Compound Screening GenScript Superior Antibodies for C2
     GenScript Custom overexpressing Cell Line Services for C2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in C2 promoter
     Search Chromatin IP Primers for C2
     RT2 qPCR Primer Assay in human, mouse, rat C2
     GNC Network for C2
     SABiosciences PCR Arrays including human, mouse, rat C2
     Search Tocris compounds for C2 (CO2)
     Proteins and Antibodies for C2
     Cell Lysates for C2
     cDNA Clones for C2
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     C2 antibodies
     C2 proteins
     C2 lysates
     Antibodies for C2
     See all of Abcam's Antibodies, Kits and Proteins for C2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for C2
     Antibodies for C2
     ELISAs for C2
     CLIAs for C2
     Search LifeMap BioReagents cell lines for C2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2
     SwitchGear 3'UTR luciferase reporter plasmids for C2
     SwitchGear Promoter luciferase reporter plasmids for C2
     ThermoFisher Antibodies for C2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for C2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C2
    Customized:
     lentivirus for stable overexpression of C2
     lentivirus expression plasmids for stable overexpression of C2
     adenovirus for overexpression of C2
     LSBio Antibodies in human, mouse, rat for C2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

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


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

    Hot genes      Disease genes      C2 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4