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C7 Gene

protein-coding   GIFtS: 66
GCID: GC05P040909

Complement Component 7

Pneumococci & Pneumococcal Diseases Congress
  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)
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Aliases
Complement Component 71 2
Complement Component C72

External Ids:    HGNC: 13461   Entrez Gene: 7302   Ensembl: ENSG000001129367   OMIM: 2170705   UniProtKB: P106433   

Export aliases for C7 gene to outside databases

Previous GC identifers: GC05P041235 GC05P042001 GC05P040955 GC05P040974 GC05P040945


(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 C7 Gene:
C7 is a component of the complement system. It participates in the formation of Membrane Attack Complex (MAC).
People with C7 deficiency are prone to bacterial infection. (provided by RefSeq, Jul 2008)

GeneCards Summary for C7 Gene:
C7 (complement component 7) is a protein-coding gene. Diseases associated with C7 include c7 deficiency, and complement component 5 deficiency. An important paralog of this gene is C9.

UniProtKB/Swiss-Prot: CO7_HUMAN, P10643
Function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune
response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor




(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:
NC_000005.10  NC_018916.2  NT_006576.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C7 gene promoter:
         RFX1   HOXA3   Nkx2-2   Nkx2-5   AP-4   Evi-1   C/EBPalpha   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC7 promoter sequence
   Search Chromatin IP Primers for C7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C7


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

Entrez Gene cytogenetic band: 5p13   Ensembl cytogenetic band:  5p13.1   HGNC cytogenetic band: 5p13.1

C7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P040909:  view genomic region     (about GC identifiers)

Start:
40,909,354 bp from pter      End:
40,983,041 bp from pter
Size:
73,688 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CO7_HUMAN, P10643 (See protein sequence)
Recommended Name: Complement component C7 precursor  
Size: 843 amino acids; 93518 Da
Subunit: Monomer or dimer; as a C5b-7 complex it can also form multimeric rosettes. MAC assembly is initiated by
protelytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and multiple copies of the
pore-forming subunit C9
1 PDB 3D structure from and Proteopedia for C7:
2WCY (3D)    
Secondary accessions: Q6P3T5 Q92489

Explore the universe of human proteins at neXtProt for C7: NX_P10643

Explore proteomics data for C7 at MOPED

Post-translational modifications: 

  • C7 has 28 disulfide bridges1
  • O- and C-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans1
  • Glycosylation2 at Trp36, Asn202, Trp503, Trp506, Trp509, Thr696, Asn754
  • Modification sites at PhosphoSitePlus

  • See C7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000578.2  
    ENSEMBL proteins: 
     ENSP00000322061  
    Reactome Protein details: P10643

    C7 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for C7
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    Novus Biologicals C7 Lysates
    Sino Biological Recombinant Protein for C7
    Sino Biological Cell Lysate for C7
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    Cloud-Clone Corp. Proteins for C7

    C7 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for C7

    C7 Assay Products:

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    Cloud-Clone Corp. ELISAs for C7
    Cloud-Clone Corp. CLIAs for C7


    (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 8):
     IPR000884 Thrombospondin_1_rpt
     IPR023415 LDLR_class-A_CS
     IPR020864 MACPF
     IPR000436 Sushi_SCR_CCP
     IPR003884 FacI_MAC

    Graphical View of Domain Structure for InterPro Entry P10643

    ProtoNet protein and cluster: P10643

    Selected Blocks protein domains (see all 6):
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB000884 Thrombospondin
    IPB001862 Membrane attack complex component/perforin/complement C9
    IPB002172 Low density lipoprotein-receptor
    IPB003884 Factor I membrane attack complex


    UniProtKB/Swiss-Prot: CO7_HUMAN, P10643
    Similarity: Belongs to the complement C6/C7/C8/C9 family
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 LDL-receptor class A domain
    Similarity: Contains 1 MACPF domain
    Similarity: Contains 2 Sushi (CCP/SCR) domains
    Similarity: Contains 2 TSP type-1 domains


    C7 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO7_HUMAN, P10643
    Function: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune
    response by forming pores in the plasma membrane of target cells. C7 serves as a membrane anchor

         Genatlas biochemistry entry for C7:
    complement component 7,beta-2 globulin,complexing with other late components of the cascade to form the membrane
    attack complex

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    C7 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for C7:
     Increased Salmonella enterica   Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C7
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C7

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C7
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C7

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat C7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C7 (see all 17):
    hsa-miR-2052 hsa-miR-4311 hsa-miR-19b-2* hsa-miR-1324 hsa-miR-3922-3p hsa-miR-19b-1* hsa-miR-19a* hsa-miR-514
    SwitchGear 3'UTR luciferase reporter plasmidC7 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for C7
    Predesigned siRNA for gene silencing in human, mouse, rat C7

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for C7

    Clone
    Products:
         
    OriGene clones in human, mouse for C7 (see all 7)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C7 (NM_000587)
    Sino Biological Human cDNA Clone for C7
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C7

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for C7
    Browse ESI BIO Cell Lines and PureStem Progenitors for C7 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7


    (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
    CO7_HUMAN, P10643: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    lysosome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005579membrane attack complex IEA--

    C7 for ontologies           About GeneDecksing


    (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 C7 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Complement Pathway
    Immune response Lectin Induced complement pathway0.56
    Complement Activation Pathways0.30
    Immune response Classic complement pathway0.56
    Classical Complement Pathway0.00
    Immune response Alternative complement pathway0.56
    Lectin Induced Complement Pathway0.00
    Regulation of Complement cascade0.48
    Terminal pathway of complement0.00
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement Activation, Classical Pathway0.00
    Complement and Coagulation Cascades0.71
    3Creation of C4 and C2 activators
    Complement cascade0.68
    4RNA Polymerase I Promoter Opening
    Systemic lupus erythematosus0.40
    5Prion diseases
    Prion diseases

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for C7
        Alternative Complement Pathway
    Classical Complement Pathway
    Lectin Induced Complement Pathway
    Complement Pathway

    3 GeneGo (Thomson Reuters) Pathways for C7
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    2 BioSystems Pathways for C7
        Complement Activation, Classical Pathway
    Complement and Coagulation Cascades

    1 Sino Biological Pathway for C7
        Complement Activation Pathways

    2 Reactome Pathways for C7
        Terminal pathway of complement
    Regulation of Complement cascade


    3 Kegg Pathways  (Kegg details for C7):
        Complement and coagulation cascades
    Prion diseases
    Systemic lupus erythematosus


    C7 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C7
    Interactions:

        GeneGlobe Interaction Network for C7

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

    Selected Interacting proteins for C7 (P106432, 3 ENSP000003220614) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C5P010313, ENSP000002236424I2D: score=2 STRING: ENSP00000223642
    CLUP109093, ENSP000003151304I2D: score=2 STRING: ENSP00000315130
    PLGP007473, ENSP000003089384I2D: score=2 STRING: ENSP00000308938
    C6ENSP000002634134STRING: ENSP00000263413
    C8AENSP000003544584STRING: ENSP00000354458
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006883cellular sodium ion homeostasis IEA--
    GO:0006956complement activation TAS3335508
    GO:0006957complement activation, alternative pathway IEA--
    GO:0006958complement activation, classical pathway IEA--
    GO:0019835cytolysis IEA--

    C7 for ontologies           About GeneDecksing



    (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 C7 (CO7)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C7 gene: 
    NM_000587.2  

    Unigene Cluster for C7:

    Complement component 7
    Hs.78065  [show with all ESTs]
    Unigene Representative Sequence: NM_000587
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000313164(uc011cpn.1 uc003jmh.3) ENST00000508185 ENST00000489457
    ENST00000486779 ENST00000513922 ENST00000494960 ENST00000464864

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat C7 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate C7 (see all 17):
    hsa-miR-2052 hsa-miR-4311 hsa-miR-19b-2* hsa-miR-1324 hsa-miR-3922-3p hsa-miR-19b-1* hsa-miR-19a* hsa-miR-514
    SwitchGear 3'UTR luciferase reporter plasmidC7 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for C7
    Predesigned siRNA for gene silencing in human, mouse, rat C7
    Clone
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    OriGene clones in human, mouse for C7 (see all 7)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C7 (NM_000587)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C7
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for C7
    OriGene qSTAR qPCR primer pairs in human, mouse for C7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C7
      QuantiTect SYBR Green Assays in human, mouse, rat C7
      QuantiFast Probe-based Assays in human, mouse, rat C7

    Additional mRNA sequence: 

    AK290349.1 AK304848.1 AK312737.1 BC025402.1 BC041807.1 BC063851.1 BC065305.1 J03507.1 
    Y11720.1 

    8 DOTS entries:

    DT.95086709  DT.204634  DT.454592  DT.86852981  DT.91714593  DT.100684743  DT.120858851  DT.91966921 

    Selected AceView cDNA sequences (see all 235):

    AA363471 BQ949164 BQ673013 BE043938 BC025402 AW151917 AI732952 BP382340 
    AI675029 AL551659 CA437117 BC063851 BM955571 BQ694652 AA916080 NM_000587 
    AA319067 BG540378 AA953308 AI732953 CA396049 BU145693 AA947900 BE326752 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C7    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b
    SP1:                                                                                -                       -                           
    SP2:                    -     -     -     -     -     -                                                                                 
    SP3:                                                                                                                                    
    SP4:                                                                                                                                    


    ECgene alternative splicing isoforms for C7

    (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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    C7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTGACTGTG
    C7 Expression
    About this image


    C7 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Visceral White Adipose
             White adipocyte-like cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced SM30 cells
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem SK11, NCr-fac & Meso-prx Progenitor
    C7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.78065
        Custom PCR Arrays for C7
    Primer
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    OriGene qPCR primer pairs and template standards for C7
    OriGene qSTAR qPCR primer pairs in human, mouse for C7
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C7
    QuantiTect SYBR Green Assays in human, mouse, rat C7
    QuantiFast Probe-based Assays in human, mouse, rat C7
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7

    (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 C7 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C71 , 5 complement component 71, 5 79.23(n)1
    73.96(a)1
      15 (1.98 cM)5
    1098281  NM_001243837.11  NP_001230766.11 
     49887625 
    chicken
    (Gallus gallus)
    Aves C71 complement component 7 66.34(n)
    60.19(a)
      427187  XM_424774.4  XP_424774.2 
    lizard
    (Anolis carolinensis)
    Reptilia C76
    complement component 7
    56(a)
    1 ↔ 1
    2(6916178-6947156)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.118552 Transcribed sequence with weak similarity to protein more 74.78(n)    142025285 
    zebrafish
    (Danio rerio)
    Actinopterygii c7b1 complement component 7b 54.16(n)
    46.05(a)
      570832  XM_005161237.1  XP_005161294.1 


    ENSEMBL Gene Tree for C7 (if available)
    TreeFam Gene Tree for C7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C7 gene
    C92  C62  C8B2  C8A2  
    2 SIMAP similar genes for C7 using alignment to 3 protein entries:     CO7_HUMAN (see all proteins):
    C8B    C6

    C7 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C7
    PGOHUM00000249667


    (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 C7 (see all 1988)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219649201,2,,4
    CComplement component 7 deficiency (C7D)4 pathogenic140904192(+) GAAGCC/AGTGAA 2 /S /R mis11Minor allele frequency- A:0.00EU 569
    VAR_0126464
    Complement component 7 deficiency (C7D)4--see VAR_0126462 E Q mis40--------
    VAR_0126444
    Complement component 7 deficiency (C7D)4--see VAR_0126442 G R mis40--------
    VAR_0126434
    Complement component 7 deficiency (C7D)4--see VAR_0126432 R Q mis40--------
    VAR_0126474
    Complement component 7 deficiency (C7D)4--see VAR_0126472 R H mis40--------
    rs1219649211,2
    Cpathogenic140900099(+) TCAGAG/CGGGGA 2 /R /G mis11Minor allele frequency- C:0.00EU 593
    rs1926797221,2
    Cuntested140904267(+) AATGCA/GAAGAT 2 K E mis10--------
    rs1153004961,2
    C,F--40852181(+) GTTCCG/AGTGAT 1 -- us2k11Minor allele frequency- A:0.11WA 118
    rs751162161,2
    C--40852194(+) TCGTGA/CCTCAG 1 -- us2k10--------
    rs1874457531,2
    --40852211(+) GAGTAA/GTTGGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C7 (40909354 - 40983041 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for C7 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676304CNV Deletion23128226
    esv1534008CNV Insertion17803354
    nsv507248CNV Insertion20534489
    esv1086081CNV Insertion17803354
    nsv881467CNV Loss21882294
    nsv823056CNV Loss20364138
    esv35077CNV Loss17911159
    nsv823057CNV Loss20364138
    nsv823055CNV Loss20364138
    nsv880796CNV Gain21882294

    Human Gene Mutation Database (HGMD): C7
    Locus Specific Mutation Databases (LSDB): C7

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C7
    DNA2.0 Custom Variant and Variant Library Synthesis for C7

    (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.)
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    OMIM gene information: 217070   
    OMIM disorders: 610102  
    UniProtKB/Swiss-Prot: CO7_HUMAN, P10643
  • Complement component 7 deficiency (C7D) [MIM:610102]: A rare defect of the complement classical pathway
    associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or
    Neisseria meningitidis. Note=Disease susceptibility is associated with variations affecting the gene represented
    in this entry

  • Selected diseases for C7 (see all 23):    
    About MalaCards
    c7 deficiency    complement component 5 deficiency    meningococcal infection    sle susceptibility
    pyoderma gangrenosum    pyoderma    complement deficiency    prion disease
    septic shock    age related macular degeneration    childhood leukemia    non-hodgkin lymphoma
    hodgkin's lymphoma    meningioma    multiple sclerosis    systemic lupus erythematosus
    lupus erythematosus    hepatitis b    hepatitis    endotheliitis


    C7 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genatlas disease: C7
    infections,recurrent,neisserial

    Genetic Association Database (GAD): C7
    Human Genome Epidemiology (HuGE) Navigator: C7 (28 documents)

    Export disorders for C7 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 C7 gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with C7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Solution structure of factor I-like modules from complement C7 reveals a pair of follistatin domains in compact pseudosymmetric arrangement. (PubMed id 19419965)1, 2, 9 Phelan M.M....Bramham J. (J. Biol. Chem. 2009)
    2. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    4. 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)
    5. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    6. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. (PubMed id 19344414)1, 4 Cerhan J.R....Slager S.L. (Br. J. Haematol. 2009)
    7. Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS. (PubMed id 19221116)1, 4 Kallio S.P....Saarela J. (Hum. Mol. Genet. 2009)
    8. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. (PubMed id 18842294)1, 4 Ennis S....Lotery A. (Lancet 2008)
    9. Evidence for association between multiple complement pathway genes and AMD. (PubMed id 17266113)1, 4 Dinu V....Zhao H. (Genet. Epidemiol. 2007)
    10. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (J. Proteome Res. 2005)

    (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)
    About This Section

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    Entrez Gene: 730 HGNC: 1346 AceView: C7 Ensembl:ENSG00000112936 euGenes: HUgn730
    ECgene: C7 Kegg: 730 H-InvDB: C7

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for C7 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for C7 Genetics and Cytogenetics in Oncology and Haematology
    C7basehttp://bioinf.uta.fi/C7base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for C7 gene:
    Search GeneIP for patents involving C7

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



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