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C2 Gene

protein-coding   GIFtS: 68
GCID: GC06P031865

Complement Component 2

  See C2-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 21 2     CO22
C3/C5 Convertase2 3     Complement C22
EC 3.4.21.433 8     Complement Component C22
ARMD142 5     EC 3.4.218

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 2 deficiency, and complement component c2 deficiency. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  NT_113891.3  NT_167245.2  NT_167246.2  NT_167247.2  NT_167248.2  
NT_167249.2  
Regulatory elements:
   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 Chromatin IP Primers for C2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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_167245 3,154,358-3,199,037      Chr6+,NT_167248 3,162,568-3,207,243      Chr6+,NT_167246 3,238,324-3,256,269     
Chr6+,NT_167249 3,228,026-3,246,159      Chr6+,NT_167247 3,248,659-3,293,293      Chr6+,NT_113891.2 3,378,530-3,423,205     

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Glycosylation2 at Asn29, Asn112, Asn290, Asn333, Asn467, Asn471, Asn621, Asn651
  • Selected DME Specific Peptides for C2 (P06681) (see all 34)
     VLTAAHC  LRGSPVR  GVWSGTE  KALHQVF 


    See C2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    C2 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for C2
    Sino Biological Cell Lysate for C2
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    Cloud-Clone Corp. Proteins for C2

     
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    antibodies-online proteins for C2 (7 products) 

     
    antibodies-online peptides for C2

    C2 Antibody Products:

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    antibodies-online antibodies for C2 (50 products) 

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    antibodies-online kits for C2 (22 products) 


    (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):
     IPR001314 Peptidase_S1A
     IPR000436 Sushi_SCR_CCP
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS
     IPR009003 Trypsin-like_Pept_dom

    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


    Find genes that share domains with C2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: 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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
         
    Find genes that share ontologies with C2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for C2

    miRNA
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    miRTarBase miRNAs that target C2:
    hsa-mir-142-3p (MIRT021561), hsa-mir-335-5p (MIRT017726)

    Block miRNA regulation of human, mouse, rat C2 using miScript Target Protectors
    3 qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat C2

    Gene Editing
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    Clone
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    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

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C2


    (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
    CO2_HUMAN, P06681: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with C2           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 C2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Complement Pathway
    Immune response Lectin Induced complement pathway0.56
    Complement Activation Pathways0.30
    Immune response Classic complement pathway0.56
    Classical Complement Pathway0.00
    Regulation of Complement cascade0.48
    Activation of C3 and C50.00
    Complement Pathway0.33
    Lectin Induced 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
    Initial triggering of complement0.85
    Complement cascade0.68
    4RNA Polymerase I Promoter Opening
    Systemic lupus erythematosus0.40
    5Staphylococcus aureus infection
    Staphylococcus aureus infection


    Find genes that share SuperPaths with C2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe 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

    3 Reactome Pathways for C2
        Regulation of Complement cascade
    Activation of C3 and C5
    Initial triggering of complement


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C2
    Interactions:

        GeneGlobe Interaction Network for C2

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

    Selected Interacting proteins for C2 (P066813 ENSP000002993674) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C4BP0C0L53, ENSP000004159414I2D: score=1 STRING: ENSP00000415941
    C4B_2P0C0L53I2D: score=1 
    ENSG00000228267P0C0L53I2D: score=1 
    ENSG00000228454P0C0L53I2D: score=1 
    ENSG00000236625P0C0L53I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

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

    Find genes that share ontologies with C2           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 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)



    Find genes that share compounds with C2           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 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
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    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 

    Selected AceView cDNA sequences (see all 232):

    BQ653772 BP346345 BP337989 CA428014 NM_000063 AA337284 BM717640 BU626325 
    BF941121 BQ646798 BQ883026 BF883123 CD607270 AI052452 CA394109 BP345527 
    BM678058 CR620914 AI984134 BC043484 BU731438 CD607272 AW129939 AI114853 

    GeneLoc Exon Structure

    Selected 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™, 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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    C2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 7) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Proximal Tubule Cells Proximal Tubule
             Metanephros
     
     Epithelial Cells
             Proximal Tubule Cells Proximal Tubule
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Liver (Hepatobiliary System)
             Mature Mesothelial Cells Hepatic Mesenchyme
    C2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.408903
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    (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 C2 gene from Selected species (see all 10)    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 79.5(n)1
    76.6(a)1
      17 (18.41 cM)5
    122631  NM_013484.21  NP_038512.21 
     348626045 
    chicken
    (Gallus gallus)
    Aves C21 complement component 2 54.74(n)
    44.82(a)
      419574  XM_417722.4  XP_417722.4 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia c21 complement component 2 49.51(n)
    42.5(a)
      100491079  XM_002942973.2  XP_002943019.2 
    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)
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    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

    Find genes that share paralogs with C2           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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    CO2_HUMAN, P06681: 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


    Selected SNPs for C2 (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
    ----------
    rs289345901,2,,4
    CComplement component 2 deficiency (C2D)4 untested131818973(+) CTACTC/TTTATG 7 S F mis1 int1 ese30--------
    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--------
    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) Selected 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

    Site Specific Mutation Identification with PCR Assays
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    (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: 613927   
    OMIM disorders: 217000  615489  
    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

  • 9 diseases for C2:    
    About MalaCards
    complement component 2 deficiency    complement component c2 deficiency    macular degeneration, age-related, 14, reduced risk of    retinal drusen
    sle susceptibility    rothmund-thomson syndrome    complement component 4, partial deficiency of    age related macular degeneration
    complement deficiency

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

    Find genes that share disorders with C2           About GenesLikeMe

    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)
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    PubMed articles for C2 gene, integrated from 10 sources (see all 130):
    (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. (Nat. Genet. 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. (J. Immunol. 1998)
    3. Structure of the human C2 gene. (PubMed id 8326124)1, 2, 9 Ishii Y.... Volanakis J.E. (J. Immunol. 1993)
    4. 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. (Ophthalmology 2011)
    5. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. (PubMed id 21665990)1, 4 Yu Y....Seddon J.M. (Hum. Mol. Genet. 2011)
    6. 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. (Hum. Mol. Genet. 2011)
    7. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    8. Host determinants of HIV-1 control in African Americans. (PubMed id 20205591)1, 4 Pelak K.... . (J. Infect. Dis. 2010)
    9. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    10. Progression of geographic atrophy and genotype in age-related macular degeneration. (PubMed id 20381870)1, 4 Klein M.L....Ott J. (Ophthalmology 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: 717 HGNC: 1248 AceView: C2 Ensembl:ENSG00000166278 euGenes: HUgn717
    ECgene: C2 Kegg: 717 H-InvDB: C2

    (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 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.)
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    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



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