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C8B Gene

protein-coding   GIFtS: 62
GCID: GC01M057311

Complement Component 8, Beta Polypeptide

Microbiology & Infectious Diseases Congress
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(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 8, Beta Polypeptide1 2
Complement Component 8 Subunit Beta2 3
C822
Complement Component C8 Beta Chain2

External Ids:    HGNC: 13531   Entrez Gene: 7322   Ensembl: ENSG000000218527   OMIM: 1209605   UniProtKB: P073583   

Export aliases for C8B gene to outside databases

Previous GC identifers: GC01M056309 GC01M056752 GC01M056764 GC01M057106 GC01M055507


(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 C8B Gene:
This gene encodes one of the three subunits of the complement component 8 (C8) protein. C8 is composed of
equimolar amounts of alpha, beta and gamma subunits, which are encoded by three separate genes. C8 is one
component of the membrane attack complex, which mediates cell lysis, and it initiates membrane penetration of the
complex. This protein mediates the interaction of C8 with the C5b-7 membrane attack complex precursor. In humans
deficiency of this protein is associated with increased risk of meningococcal infections. Alternative splicing
results in multiple transcript variants. (provided by RefSeq, Jun 2013)

GeneCards Summary for C8B Gene:
C8B (complement component 8, beta polypeptide) is a protein-coding gene. Diseases associated with C8B include complement component 8 deficiency type 2, and meningococcal infection. GO annotations related to this gene include protein complex binding. An important paralog of this gene is C9.

UniProtKB/Swiss-Prot: CO8B_HUMAN, P07358
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




(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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C8B gene promoter:
         AhR   E2F-3a   E2F-4   E2F-5   E2F-2   Arnt   FAC1   S8   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC8B promoter sequence
   Search Chromatin IP Primers for C8B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C8B


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

Entrez Gene cytogenetic band: 1p32.2   Ensembl cytogenetic band:  1p32.2   HGNC cytogenetic band: 1p32.2

C8B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8B gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M057311:  view genomic region     (about GC identifiers)

Start:
57,394,883 bp from pter      End:
57,431,813 bp from pter
Size:
36,931 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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: CO8B_HUMAN, P07358 (See protein sequence)
Recommended Name: Complement component C8 beta chain precursor  
Size: 591 amino acids; 67047 Da
Subunit: Heterotrimer of 3 chains: alpha, beta and gamma. The alpha and gamma chains are disulfide bonded.
Component of the membrane attack complex (MAC). 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 C8B:
3OJY (3D)    
Secondary accessions: A1L4K7

Explore the universe of human proteins at neXtProt for C8B: NX_P07358

Explore proteomics data for C8B at MOPED

Post-translational modifications: 

  • N-glycosylated; contains one or two bound glycans. Not O-glycosylated1
  • Glycosylation2 at Trp70, Trp73, Asn101, Asn243, Trp551, Trp554
  • Modification sites at PhosphoSitePlus

  • See C8B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000057.2  NP_001265472.1  NP_001265473.1  

    ENSEMBL proteins: 
     ENSP00000360281   ENSP00000442548   ENSP00000440113  
    Reactome Protein details: P07358

    C8B Human Recombinant Protein Products:

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    Novus Biologicals C8B Lysate
    Browse Sino Biological Recombinant Proteins
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    Browse Proteins at Cloud-Clone Corp.

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    LSBio Antibodies in human, mouse, rat for C8B

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (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 6):
     IPR000884 Thrombospondin_1_rpt
     IPR023415 LDLR_class-A_CS
     IPR020864 MACPF
     IPR002172 LDrepeatLR_classA_rpt
     IPR001862 MAC_perforin

    Graphical View of Domain Structure for InterPro Entry P07358

    ProtoNet protein and cluster: P07358

    4 Blocks protein domains:
    IPB000884 Thrombospondin
    IPB001862 Membrane attack complex component/perforin/complement C9
    IPB002172 Low density lipoprotein-receptor
    IPB008085 Thrombospondin type 1 repeat signature


    UniProtKB/Swiss-Prot: CO8B_HUMAN, P07358
    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 TSP type-1 domains


    C8B 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: CO8B_HUMAN, P07358
    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

         Genatlas biochemistry entry for C8B:
    complement component 8,gamma-1 globulin,beta polypeptide,66.9kDa,(<2.5kb,3' from C8A)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0032403protein complex binding IEA--
         
    C8B for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C8B:
     Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for C8b):
     hematopoietic system 

    C8B for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C8B
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C8B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C8B

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate C8B:
    hsa-miR-183
    SwitchGear 3'UTR luciferase reporter plasmidC8B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C8B

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for C8B (see all 6)
    OriGene ORF clones in mouse, rat for C8B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: C8B (NM_000066)
    Sino Biological Human cDNA Clone for C8B
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C8B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C8B

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    (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
    CO8B_HUMAN, P07358: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane3
    golgi apparatus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005579membrane attack complex IEA--
    GO:0005615extracellular space IEA--
    GO:0016020membrane TAS2820472

    C8B 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 C8B About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Complement Pathway
    Immune response Lectin Induced complement pathway0.56
    Classical Complement Pathway0.00
    Immune response Classic complement pathway0.56
    Terminal pathway of complement0.00
    Immune response Alternative complement pathway0.56
    Lectin Induced Complement Pathway0.00
    Regulation of Complement cascade0.48
    Alternative Complement Pathway0.00
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement Activation, Classical Pathway0.00
    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 C8B
        Alternative Complement Pathway
    Classical Complement Pathway
    Lectin Induced Complement Pathway
    Complement Pathway

    3 GeneGo (Thomson Reuters) Pathways for C8B
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    1 BioSystems Pathway for C8B
        Complement Activation, Classical Pathway


    2 Reactome Pathways for C8B
        Terminal pathway of complement
    Regulation of Complement cascade


    4 Kegg Pathways  (Kegg details for C8B):
        Complement and coagulation cascades
    Prion diseases
    Amoebiasis
    Systemic lupus erythematosus


    C8B for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C8B
    Interactions:

        Search GeneGlobe Interaction Network for C8B

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

    Selected Interacting proteins for C8B (P073583 ENSP000003602814) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C8AP073573, ENSP000003544584I2D: score=1 STRING: ENSP00000354458
    C5P010313, ENSP000002236424I2D: score=2 STRING: ENSP00000223642
    CLUP109093, ENSP000003151304I2D: score=1 STRING: ENSP00000315130
    C8GENSP000002241814STRING: ENSP00000224181
    C9ENSP000002634084STRING: ENSP00000263408
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response TAS8098723
    GO:0006956complement activation TAS8098723
    GO:0006957complement activation, alternative pathway IEA--
    GO:0006958complement activation, classical pathway IEA--
    GO:0019835cytolysis IEA--

    C8B 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 C8B (CO8B)



    (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 C8B gene (3 alternative transcripts): 
    NM_000066.3  NM_001278543.1  NM_001278544.1  

    Unigene Cluster for C8B:

    Complement component 8, beta polypeptide
    Hs.391835  [show with all ESTs]
    Unigene Representative Sequence: AK316209
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371237(uc001cyp.3 uc010oon.2) ENST00000465658 ENST00000468990
    ENST00000494324 ENST00000543257(uc010ooo.2) ENST00000535057
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat C8B using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate C8B:
    hsa-miR-183
    SwitchGear 3'UTR luciferase reporter plasmidC8B 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Predesigned siRNA for gene silencing in human, mouse, rat C8B
    Clone
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    GenScript: all cDNA clones in your preferred vector: C8B (NM_000066)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C8B
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C8B
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C8B
      QuantiTect SYBR Green Assays in human, mouse, rat C8B
      QuantiFast Probe-based Assays in human, mouse, rat C8B

    Additional mRNA sequence: 

    AK292740.1 AK298425.1 AK298444.1 AK313382.1 AK316209.1 BC020701.1 BC130575.1 M16973.1 
    X04393.1 

    4 DOTS entries:

    DT.312340  DT.102823867  DT.92422653  DT.40111867 

    Selected AceView cDNA sequences (see all 56):

    AI052792 CD364465 R91529 AV659380 CB164300 CB157494 CB154155 CB164764 
    BC020701 CD607338 CB115633 AA702340 AV719020 AV646215 BX494605 N59684 
    BG566941 M16973 AV719077 X04393 CD365724 AV689322 NM_000066 BX096202 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for C8B    About this scheme

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


    ECgene alternative splicing isoforms for C8B

    (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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    C8B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAGCTGTTT
    C8B Expression
    About this image


    C8B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Brain (Nervous System)
             Cerebellum
    C8B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C8B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.391835
        Custom PCR Arrays for C8B
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for C8B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C8B
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    QuantiFast Probe-based Assays in human, mouse, rat C8B
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8B

    (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 C8B gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C8b1 , 5 complement component 8, beta polypeptide1, 5 79.36(n)1
    75.99(a)1
      4 (48.61 cM)5
    1103821  NM_133882.21  NP_598643.11 
     1047663175 
    chicken
    (Gallus gallus)
    Aves C8B1 complement component 8, beta polypeptide 67.01(n)
    62.56(a)
      424669  XM_422502.3  XP_422502.2 
    lizard
    (Anolis carolinensis)
    Reptilia C8B6
    complement component 8, beta polypeptide
    59(a)
    1 ↔ 1
    4(102940614-103165612)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.96952 Xenopus laevis transcribed sequence with weak similarity more 75.72(n)    BX855507.1 
    zebrafish
    (Danio rerio)
    Actinopterygii c8b1 complement component 8, beta polypeptide 54.69(n)
    49.81(a)
      793127  NM_001256723.1  NP_001243652.1 


    ENSEMBL Gene Tree for C8B (if available)
    TreeFam Gene Tree for C8B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C8B gene
    C92  C62  C8A2  C72  
    3 SIMAP similar genes for C8B using alignment to 5 protein entries:     CO8B_HUMAN (see all proteins):
    C7    C9    C8A

    C8B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), 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
    CO8B_HUMAN, P07358: The sequence shown is that of allotype C8B B


    Selected SNPs for C8B (see all 1002)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs412868441,2
    C,Fpathogenic157482185(+) TCCTCG/ATACCA 2 /R /* stg14Minor allele frequency- A:0.00NA EU 5879
    rs39163631,2
    A--57394603(-) tgtgcA/Gtgtgt 1 -- ds50010--------
    rs2021322931,2
    C--57394772(-) CTAGCC/TCNNNN 1 -- ds50010--------
    rs577823941,2
    C--57399814(+) CTGTC-/TTTTTTTT 1 -- int10--------
    rs717209011,2
    C--57399814(+) CTGTCTTT/-TTTTT 2 -- int1 cds11Minor allele frequency- -:0.50CSA 2
    rs604674531,2
    C--57399837(+) TTTTTT/-CTTTT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs604650071,2
    C--57402185(+) GGTAA-/ATTTTT 1 -- int11Minor allele frequency- A:0.00NA 2
    rs113104581,2
    C--57402188(+) TTTTT-/T/TT  
            
    GGTGT
    1 -- int1 trp31NA 2
    rs358184471,2
    C--57402274(+) TTTTGT/-AGACA 1 -- int11Minor allele frequency- -:0.00NA 2
    rs339111041,2
    C--57405689(+) GTTAC-/GTGTGTG 1 -- int11Minor allele frequency- GT:0.00NA 2

    HapMap Linkage Disequilibrium report for C8B (57394883 - 57431813 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C8B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2557221CNV Insertion19546169

    Human Gene Mutation Database (HGMD): C8B
    Locus Specific Mutation Databases (LSDB): C8B

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C8B
    DNA2.0 Custom Variant and Variant Library Synthesis for C8B

    (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

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    OMIM gene information: 120960   
    OMIM disorders: 613789  
    UniProtKB/Swiss-Prot: CO8B_HUMAN, P07358
  • Complement component 8 deficiency, 2 (C8D2) [MIM:613789]: 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

  • 19 diseases for C8B:    
    About MalaCards
    complement component 8 deficiency type 2    meningococcal infection    complement component 5 deficiency    prion disease
    hemoglobinuria    age related macular degeneration    meningitis    childhood leukemia
    non-hodgkin lymphoma    hodgkin's lymphoma    meningioma    systemic lupus erythematosus
    lupus erythematosus    hepatitis b    hepatitis    endotheliitis
    multiple myeloma    myeloma    leukemia


    C8B for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genatlas disease: C8B
    recurrent,neisserial infections,C8 deficiency,type II characterized by essentially meningitis

    Genetic Association Database (GAD): C8B
    Human Genome Epidemiology (HuGE) Navigator: C8B (7 documents)

    Export disorders for C8B 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 C8B gene, integrated from 10 sources (see all 51):
    (articles sorted by number of sources associating them with C8B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of human C8 protein provides mechanistic insight into membrane pore formation by complement. (PubMed id 21454577)1, 2 Lovelace L.L.... Lebioda L. (J. Biol. Chem. 2011)
    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. 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)
    5. 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)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    7. 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)
    8. The four terminal components of the complement system are C- mannosylated on multiple tryptophan residues. (PubMed id 10551839)1, 2 Hofsteenge J.... Miroshnichenko O. (J. Biol. Chem. 1999)
    9. Human complement component C8. Molecular basis of the beta-chain polymorphism. (PubMed id 8131848)1, 2 Dewald G.... Noethen M.M. (FEBS Lett. 1994)
    10. Complementary DNA and derived amino acid sequence of the beta subunit of human complement protein C8: identification of a close structural and ancestral relationship to the alpha subunit and C9. (PubMed id 2820472)1, 2 Howard O.M.Z.... Sodetz J.M. (Biochemistry 1987)

    (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: 732 HGNC: 1353 AceView: C8B Ensembl:ENSG00000021852 euGenes: HUgn732
    ECgene: C8B Kegg: 732 H-InvDB: C8B

    (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 C8B Pharmacogenomics, SNPs, Pathways
    C8Bbasehttp://bioinf.uta.fi/C8Bbase/

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

    TryGeneCards Plus
    Patent Information for C8B gene:
    Search GeneIP for patents involving C8B

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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