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

C7 Gene

protein-coding   GIFtS: 66
GCID: GC05P040909

Complement Component 7

  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 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 meningococcal infection, and among its related super-pathways are Immune response Lectin induced complement pathway and Complement Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_006576.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for C7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Secreted
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:

  • UniProtKB: C7 has 28 disulfide bridges
  • UniProtKB: O- and C-glycosylated. O-glycosylated with core 1 or possibly core 8 glycans
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10643

  • C7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C7 Protein Expression
    REFSEQ proteins: NP_000578.2  
    ENSEMBL proteins: 
     ENSP00000322061  
    Reactome Protein details: P10643
    Human Recombinant Protein Products for C7: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    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 C7
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for C7
    GenScript Custom Purified and Recombinant Proteins Services for C7
    Novus Biologicals C7 Lysates
    Sino Biological Recombinant Protein for C7
    Sino Biological Cell Lysate for C7 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for C7 

    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:0005579membrane attack complex IEA--

    C7 for ontologies           About GeneDecksing



    C7 Antibody Products: 
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    Abcam antibodies for C7
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    ThermoFisher Antibody for C7
    LSBio Antibodies in human, mouse, rat for C7 

    Assay Products for C7: 
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    GenScript Custom Assay Services for C7
    Browse Enzo Life Sciences for kits & assays
    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)
    About This Section
    HGNC Gene Families: 
    complement: Complement system

    5/8 InterPro protein domains (see all 8):
     IPR002172 LDrepeatLR_classA_rpt
     IPR000884 Thrombospondin_1_rpt
     IPR001862 MAC_perforin
     IPR023415 LDLR_class-A_CS
     IPR020864 MACPF

    Graphical View of Domain Structure for InterPro Entry P10643

    ProtoNet protein and cluster: P10643

    5/6 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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for C7 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C7
    8/17 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C7

    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of 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)
    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
    Sirion Biotech Customized lentivirus for stable overexpression of C7 
                         Customized lentivirus expression plasmids for stable overexpression of C7 

    Cell Line
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    Search LifeMap BioReagents cell lines for C7
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7


    (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 C7 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Lectin induced complement pathway
    Immune response Lectin induced complement pathway0.56
    Immune response Classic complement pathway0.53
    Immune response Alternative complement pathway0.56
    Immune response Classical complement pathway0.52
    Immune response Lectin Induced complement pathway0.56
    Regulation of Complement cascade0.50
    2Classical Complement Pathway
    Classical Complement Pathway0.75
    Lectin Induced Complement Pathway0.65
    Complement Pathway0.75
    Complement Activation Pathways0.31
    Complement Activation, Classical Pathway0.68
    3Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    4Terminal pathway of complement
    Terminal pathway of complement0.64
    Alternative Complement Pathway0.64
    5Immune System
    Immune System0.56
    Innate Immune System0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for C7
        Immune response Alternative complement pathway
    Immune response Classic complement pathway
    Immune response Lectin Induced complement pathway

    4 Downloadable PowerPoint Slides of QIAGEN 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

    5        Reactome Pathways for C7
        Terminal pathway of complement
    Regulation of Complement cascade
    Complement cascade
    Immune System
    Innate Immune System


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


    C7 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C7

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

    5/9 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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006956complement activation TAS3335508
    GO:0006957complement activation, alternative pathway IEA--
    GO:0006958complement activation, classical pathway IEA--
    GO:0019835cytolysis IEA--
    GO:0030449regulation of complement activation TAS--

    C7 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C7 (CO7)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C7
    8/17 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C7
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat 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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C7
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C7
    Sirion Biotech Customized lentivirus for stable overexpression of C7 
                         Customized lentivirus expression plasmids for stable overexpression of C7 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for C7
    OriGene qSTAR qPCR primer pairs in human, mouse for C7
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C7
      QIAGEN 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 

    24/235 AceView cDNA sequences (see all 235):

    AA319067 BG540378 AA953308 AI732953 CA396049 BU145693 AA947900 BE326752 
    CR600042 BE043938 BC025402 AW151917 AI732952 BP382340 AI675029 AL551659 
    CA437117 BC063851 BM955571 BQ694652 AA916080 NM_000587 AA363471 BQ949164 

    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™, 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

    C7 expression in normal human tissues (normalized intensities)      C7 embryonic expression: see
    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 
     5/20 selected tissues (see all 20) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
             Human Calvarial Osteoblasts (HCO)   
     
     Adipose (Muscoskeletal System)    fully expand to see all 4 entries
             Visceral White Adipose
             HyStem+BMP4-induced SM30 cells
             Human Preadipocyte-visceral (HPA-v)   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+TGFbeta3+GDF5-induced 7SMOO32 cells
             Human Nucleus Pulposus Cells (HNPC)   
     
     Fibroblast (Uncategorized)    fully expand to see all 3 entries
             Human Prostate Fibroblasts (HPrF)   
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Human Tracheal Smooth Muscle Cells (HTSMC)   

    See C7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C7

    SOURCE GeneReport for Unigene cluster: Hs.78065
        SABiosciences Custom PCR Arrays for C7
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for C7
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C7
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C7
    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for C7 gene from 5/13 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 79.74(n)1
    74.61(a)1
      15 (1.98 cM)5
    1098281  NM_001243837.11  NP_001230766.11 
     49887625 
    chicken
    (Gallus gallus)
    Aves C71 complement component 7 66.3(n)
    60.19(a)
      427187  XM_424774.3  XP_424774.2 
    lizard
    (Anolis carolinensis)
    Reptilia C76
    Uncharacterized protein
    55(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 c7a1 complement component 7a 52.36(n)
    44.28(a)
      562475  XM_685854.5  XP_690946.4 


    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)
    About This Section
    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) 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

    10/1988 SNPs in C7 are shown (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
    ----------
    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--------
    rs1219649201,2,4
    CComplement component 7 deficiency (C7D)4 pathogenic140904192(+) GAAGCC/AGTGAA 2 /S /R mis11Minor allele frequency- A:0.00EU 569
    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) 10/12 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    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

  • 18 diseases for C7:    About MalaCards
    c7 deficiency    meningococcal infection    pyoderma gangrenosum    pyoderma
    complement deficiency    prion disease    age related macular degeneration    macular degeneration
    non-hodgkin lymphoma    hodgkin's lymphoma    meningioma    multiple sclerosis
    systemic lupus erythematosus    lupus erythematosus    hepatitis b    endotheliitis
    hepatitis    leukemia


    C7 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for C7 gene, integrated from 9 sources (see all 60):
    (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. (2009)
    2. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    3. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Sequential use of transcriptional profiling, expressi on quantitative trait mapping, and gene association implicates MMP20 in human k idney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (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. (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. (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. (2008)
    9. Evidence for association between multiple complement pathway genes and AMD. (PubMed id 17266113)1, 4 Dinu V....Zhao H. (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. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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: 730 HGNC: 1346 AceView: C7 Ensembl:ENSG00000112936 euGenes: HUgn730
    ECgene: C7 Kegg: 730 H-InvDB: C7

    (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 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
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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