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

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)
About This Section

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

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 prion disease, and among its related super-pathways are Immune response Lectin induced complement pathway and Complement Pathway. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for C8B

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

  • UniProtKB: N-glycosylated; contains one or two bound glycans. Not O-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07358

  • C8B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C8B Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_000057.2  NP_001265472.1  NP_001265473.1  

    ENSEMBL proteins: 
     ENSP00000360281   ENSP00000442548   ENSP00000440113  
    Reactome Protein details: P07358
    Human Recombinant Protein Products for C8B: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 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--
    GO:0005615extracellular space IEA--
    GO:0016020membrane TAS2820472

    C8B for ontologies           About GeneDecksing



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    (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

    5/6 InterPro protein domains (see all 6):
     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 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,
    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: 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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for C8B 
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate C8B:
    hsa-miR-183
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    Inhib. RNA
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    (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 C8B About   (see all 9)                                                                                              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
    Complement Activation, Classical Pathway0.68
    Complement Pathway0.75
    Lectin Induced Complement Pathway0.65
    3Terminal pathway of complement
    Terminal pathway of complement0.64
    Alternative Complement Pathway0.64
    4Immune System
    Immune System0.56
    Innate Immune System0.50
    5Classical antibody-mediated complement activation
    Complement cascade0.76

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for C8B
        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 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


    5        Reactome Pathways for C8B
        Terminal pathway of complement
    Regulation of Complement cascade
    Complement cascade
    Immune System
    Innate Immune System


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


    C8B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C8B

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

    5/8 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): 5/7 biological process terms (GO ID links to tree view) (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 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 C8B (CO8B)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate C8B:
    hsa-miR-183
    SwitchGear 3'UTR luciferase reporter plasmidC8B 3' UTR sequence
    Inhib. RNA
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    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 

    24/56 AceView cDNA sequences (see all 56):

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

    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™, 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

    C8B expression in normal human tissues (normalized intensities)      C8B embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             alveolar macrophages   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Human Hepatocyte (HH)   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             lung ; macrophages   
             alveolar macrophages   
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Brain (Nervous System)
             Cerebellum

    See C8B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C8B

    SOURCE GeneReport for Unigene cluster: Hs.391835
        SABiosciences Custom PCR Arrays for C8B
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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for C8B gene from 5/14 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 79.32(n)1
    75.95(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 66.96(n)
    62.39(a)
      424669  XM_422502.2  XP_422502.2 
    lizard
    (Anolis carolinensis)
    Reptilia C8B6
    Uncharacterized protein
    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 54.61(n)
    49.24(a)
      793127  XM_001332783.4  XP_001332819.1 


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: CO8B_HUMAN, P07358
    Polymorphism: The sequence shown is that of allotype C8B B


    10/1002 SNPs in C8B are shown (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
    SABiosciences Cancer Mutation 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
    OMIM gene information: 120960    OMIM disorders: --

    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

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


    C8B for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for C8B gene, integrated from 9 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. (2011)
    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. 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)
    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. (2008)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (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. (1999)
    9. Human complement component C8. Molecular basis of the beta-chain polymorphism. (PubMed id 8131848)1, 2 Dewald G.... Noethen M.M. (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. (1987)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 732 HGNC: 1353 AceView: C8B Ensembl:ENSG00000021852 euGenes: HUgn732
    ECgene: C8B Kegg: 732 H-InvDB: C8B

    (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 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
    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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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