Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

C8A Gene

protein-coding   GIFtS: 54
GCID: GC01P057237

complement component 8, alpha polypeptide
 Explore 12 diseases affiliated with
C8A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C8A    

Aliases
for C8A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Complement Component 8, Alpha Polypeptide1 2
Complement Component 8 Subunit Alpha2 3
Complement Component C8 Alpha Chain2

External Ids:    HGNC: 13521   Entrez Gene: 7312   Ensembl: ENSG000001571317   OMIM: 1209505   UniProtKB: P073573   

Export aliases for C8A gene to outside databases

Previous GC identifers: GC01P056235 GC01P056678 GC01P056690 GC01P057032 GC01P055432


Summaries
for C8A gene

(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 C8A:
C8 is a component of the complement system and contains three polypeptides, alpha, beta and gamma. This gene encodes
the alpha subunit of C8. C8 participates in the formation of the membrane attack complex (MAC). The MAC assembles on
bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene
cause complement C8 alpha-gamma deficiency. (provided by RefSeq, Nov 2008)

UniProtKB/Swiss-Prot: CO8A_HUMAN, P07357
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. C8A inserts into the target membrane, but does not
form pores by itself




Genomic Views
for C8A gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C8A gene promoter:
         SRF   SRF (504 AA)   POU6F1 (c2)   HNF-3beta   Evi-1   HNF-4alpha1   Nkx6-1   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: C8A promoter sequence
   Search SABiosciences Chromatin IP Primers for C8A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C8A


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

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

C8A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P057237:  view genomic region     (about GC identifiers)

Start:
 57,320,443 bp from pter      End:
 57,383,894 bp from pter
Size:
 63,452 bases      Orientation:
 plus strand

Proteins
for C8A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CO8A_HUMAN, P07357 (See protein sequence)
Recommended Name: Complement component C8 alpha chain precursor  
Size: 584 amino acids; 65163 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. Cell membrane; Multi-pass membrane protein. Note=Secreted as soluble protein. Inserts
into the cell membrane of target cells
4 PDB 3D structures from and Proteopedia for C8A:
2QOS (3D)        2QQH (3D)        2RD7 (3D)        3OJY (3D)    
Secondary accessions: A2RUI4 A2RUI5 Q13668 Q9H130

Explore the universe of human proteins at neXtProt for C8A: NX_P07357

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P07357

    • C8A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000553.1  
    ENSEMBL proteins: 
     ENSP00000354458  
    Reactome Protein details: P07357
    Human Recombinant Protein Products: 
    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: C8A
    OriGene Custom Protein Services for C8A 
    GenScript Custom Purified and Recombinant Proteins Services for C8A
    Novus Biologicals C8A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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 IDA12413696
    GO:0005615extracellular space TAS6771072
    GO:0016020membrane TAS2820471


    C8A for ontologies           About GeneDecksing



    C8A Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for C8A 
    GenScript Custom Superior Antibodies Services for C8A
    Novus Biologicals C8A Antibody
    Search for Antibodies for C8A at Abcam  
    Browse Antibodies at Uscn
    Search ThermoFisher Antibodies for C8A

    Assay Products for C8A: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for C8A
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for C8A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    C8A for domains           About GeneDecksing

    5/6 InterPro domains/families (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 P07357

    ProtoNet protein and cluster: P07357

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


    UniProtKB/Swiss-Prot: CO8A_HUMAN, P07357
    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


    Function
    for C8A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CO8A_HUMAN, P07357
    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. C8A inserts into the target membrane, but does not
    form pores by itself

         Genatlas biochemistry entry for C8A:
    complement component 8,gamma-1 globulin,alpha polypeptide,64.8kDa, (<2.5kb, 5' from C8B),complexing with other late
    components of the cascade to form the membrane attack complex

    miRNA
    Products:            		 OriGene 3'-UTR Clone: C8A
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C8A
    1 QIAGEN miScript miRNA Assays for microRNA that regulate C8A:
    hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmid: C8A 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C8A (see all 7)
    OriGene shRNA RFP: C8A
    OriGene siRNA: C8A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C8A

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for C8A

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C8A (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C8A
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: C8A (NM_000562)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C8A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C8A 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for C8A
    Search LifeMap BioReagents cell lines for C8A

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8A

    3 GenomeRNAi human phenotypes for C8A:
     Increased G1 DNA content  Increased gamma-H2AX phosphory  Synthetic lethal with Ras 


    Pathways & Interactions
    for C8A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Classical Complement Pathway
    		Classical Complement Pathway1.00
    		Complement Activation, Classical Pathway0.65
    		Complement Pathway0.75
    		Lectin Induced Complement Pathway0.56
    2Immune response_Alternative complement pathway
    		Immune response Alternative complement pathway1.00
    		Immune response_Lectin induced complement pathway0.56
    		Immune response_Alternative complement pathway1.00
    		Immune response Lectin Induced complement pathway0.56
    3Immune response_Classical complement pathway
    		Immune response_Classical complement pathway1.00
    		Immune response Classic complement pathway0.98
    4Terminal pathway of complement
    		Terminal pathway of complement1.00
    		Alternative Complement Pathway0.64
    5Immune System
    		Immune System1.00
    		Innate Immune System0.46

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for C8A
        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 C8A
        Alternative Complement Pathway
    Classical Complement Pathway
    Lectin Induced Complement Pathway
    Complement Pathway

    3 GeneGo (Thomson Reuters) Pathways for C8A
        Immune response Alternative complement pathway
    Immune response Classical complement pathway
    Immune response Lectin induced complement pathway

    1 BioSystems Pathway for C8A 
        Complement Activation, Classical Pathway

    4        Reactome Pathways for C8A
        Terminal pathway of complement
    Complement cascade
    Immune System
    Innate Immune System


    4         Kegg Pathways  (Kegg details for C8A):
        Complement and coagulation cascades
    Prion diseases
    Amoebiasis
    Systemic lupus erythematosus


    C8A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C8A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for C8A (P073573 ENSP000003544584) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C8GP073603, ENSP000002241814I2D: score=2 STRING: ENSP00000224181
    CD59P139873, ENSP000003402104I2D: score=2 STRING: ENSP00000340210
    C8BP073583, ENSP000003602814I2D: score=1 STRING: ENSP00000360281
    C9P027483, ENSP000002634084I2D: score=1 STRING: ENSP00000263408
    C5ENSP000002236424STRING: ENSP00000223642
    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:0006955immune response TAS6771072
    GO:0006956complement activation IDA12413696
    GO:0006957complement activation, alternative pathway IEA--
    GO:0006958complement activation, classical pathway IEA--
    GO:0019835cytolysis IEA--


    C8A for ontologies           About GeneDecksing



    Drugs & Compounds
    for C8A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 C8A
    Search CenterWatch for drugs/clinical trials and news about C8A / CO8A 

    Transcripts
    for C8A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for C8A gene: 
    NM_000562.2  

    Unigene Cluster for C8A:

    Complement component 8, alpha polypeptide
    Hs.93210  [show with all ESTs]
    Unigene Representative Sequence: M16974
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000361249(uc001cyo.2)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: C8A
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C8A
    1 QIAGEN miScript miRNA Assays for microRNA that regulate C8A:
    hsa-miR-3133
    SwitchGear 3'UTR luciferase reporter plasmid: C8A 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C8A (see all 7)
    OriGene shRNA RFP: C8A
    OriGene siRNA: C8A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C8A
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C8A (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C8A
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: C8A (NM_000562)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C8A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C8A 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C8A
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C8A
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C8A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C8A

    Additional cDNA sequence: 

    AK309596.1 BC020702.1 BC132911.1 BC132913.1 M16974.1 

    4 DOTS entries:

    DT.213748  DT.100786477  DT.95156351  DT.95156350 

    24/47 AceView cDNA sequences (see all 47):

    AA343585 CB164686 CB162713 AA699772 AW963056 AW963046 N93779 T28622 
    BC020702 BX114250 BU942533 BX494600 AV692569 BX370270 BX346132 W86807 
    T51917 T71233 NM_000562 AA343878 BG563768 BX346133 AV650069 AA344521 

    GeneLoc Exon Structure


    Expression
    for C8A gene

    (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

    C8A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    C8A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See C8A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C8A

    SOURCE GeneReport for Unigene cluster: Hs.93210
        SABiosciences Custom PCR Arrays for C8A
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C8A
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C8A
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C8A
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C8A
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8A

    Orthologs
    for C8A gene

    (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 C8A gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves C8A1 complement component 8, alpha polypeptide 60.96(n)
    54.95(a)    		   429111  XM_426667.3  XP_426667.2 
    lizard
    (Anolis carolinensis)    		 Reptilia C8A6
    		 --
    		 54(a)
    		 1 ↔ 1
    		 4(103178201-103214400)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BX853138.12   -- 75.08(n)    BX853138.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii c8a1 complement component 8, alpha polypeptide 52.1(n)
    44.12(a)    		   445102  NM_001003496.1  NP_001003496.1 


    ENSEMBL Gene Tree for C8A (if available)
    TreeFam Gene Tree for C8A (if available) 

    Paralogs
    for C8A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C8A gene
    C62  C92  C8B2  C72  
    2 SIMAP similar genes for C8A using alignment to 2 protein entries:     CO8A_HUMAN (see all proteins):
    C9    C8B

    C8A for paralogs           About GeneDecksing



    Genomic Variants
    for C8A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1315 NCBI SNPs in C8A are shown (see all 1315)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs578582971,2
    		C,F,--55430874(+) GACAAT/CTTTTT 1 -- us2k14Minor allele frequency- C:0.31WA CSA 123
    rs8570331,2
    		C,F,A,H,--55431029(-) TACAAC/Tagtgt 1 -- us2k15Minor allele frequency- T:0.01NS EA CSA 414
    rs1147208721,2
    		C,F,--55431331(+) CTGAGG/ACCAAG 1 -- us2k11Minor allele frequency- A:0.06WA 118
    rs769112241,2
    		C,F,--55431399(+) NNNNCG/AGGGAC 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs8570321,2
    		H,--55431469(+) GGGAGA/TTGATA 1 -- us2k1 trp36Minor allele frequency- T:0.00MN NS EA CSA 596
    rs786063081,2
    		--55431649(+) TACAAC/TCTTGG 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs120749921,2
    		C,F,--55432071(+) CACATA/GTATTT 1 -- us2k14Minor allele frequency- G:0.06NA WA 256
    rs729134441,2
    		C,--55432258(+) ATTCTA/TGAACT 1 -- us2k12Minor allele frequency- T:0.09WA 120
    rs1138524231,2
    		C--55432701(+) ACCAGA/TAAGTG 1 -- spd11Minor allele frequency- T:0.00CSA 1
    rs8570311,2
    		F,H,--55433110(-) agtagG/Aggtta 1 -- int14Minor allele frequency- A:0.01NS EA 384

    HapMap Linkage Disequilibrium report for C8A (57320443 - 57383894 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C8A: --
    Human Gene Mutation Database (HGMD): C8A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C8A
    DNA2.0 Custom Variant and Variant Library Synthesis for C8A

    Disorders / Diseases
    for C8A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    C8A for disorders           About GeneDecksing

    OMIM gene information: 120950    OMIM disorders: --

    UniProtKB/Swiss-Prot: CO8A_HUMAN, P07357
  • Defects in C8A are a cause of complement component 8 deficiency type 1 (C8D1) [MIM:613790]. A rare defect of
    • the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by
    Neisseria gonorrhoeae or Neisseria meningitidis

    12 diseases for C8A:    About MalaCards
    complement component 8 deficiency type 1    age related macular degeneration    macular degeneration    meningococcal infection
    systemic lupus erythematosus    lupus erythematosus    prion disease    hepatitis b
    meningitis    meningioma    hepatitis    leukemia

    Human Genome Epidemiology (HuGE) Navigator: C8A (11 documents)

    Export disorders for C8A gene to outside databases

    Publications
    for C8A gene

    (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 C8A gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with C8A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of the MACPF domain of human complement protein C8 alpha in complex with the C8 gamma subunit. (PubMed id 18440555)1, 2 Slade D.J....Sodetz J.M. (2008)
    2. Structure of C8alpha-MACPF reveals mechanism of membrane attack in complement immune defense. (PubMed id 17872444)1, 2 Hadders M.A.... Gros P. (2007)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    5. 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)
    6. Genomic organization of human complement protein C8 alpha and further examination of its linkage to C8 beta. (PubMed id 7759071)1, 2 Michelotti G.A.... Sodetz J.M. (1995)
    7. The eighth component of human complement: molecular basis of C8A (C81) polymorphism. (PubMed id 7649542)1, 2 Zhang L.... Kaufmann T. (1995)
    8. Complementary DNA and derived amino acid sequence of the alpha subunit of human complement protein C8: evidence for the existence of a separate alpha subunit messenger RNA. (PubMed id 2820471)1, 2 Rao A.G....Sodetz J.M. (1987)
    9. The eighth component of human complement. Purification and physicochemical characterization of its unusual subunit structure. (PubMed id 7440581)1, 2 Steckel E.W.... Sodetz J.M. (1980)
    10. Mapping the intermedilysin-human CD59 receptor interf ace reveals a deep correspondence with the binding site on CD59 for complement binding proteins C8alpha and C9. (PubMed id 21507937)1 Wickham S.E....Tweten R.K. (2011)

    External Searches for C8A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing C8A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 731 HGNC: 1352 AceView: C8A Ensembl:ENSG00000157131 euGenes: HUgn731
    ECgene: C8A Kegg: 731 H-InvDB: C8A

    Other Databases showing C8A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C8A gene

    (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 C8A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for C8A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for C8A gene:
    Search GeneIP for patents involving C8A

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



    Products
    for C8A gene

    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for C8A  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C8A   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C8A  
     OriGene Protein Over-expression Lysate for C8A   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for C8A   OriGene 3'-UTR Clone for C8A  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C8A   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C8A  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for C8A   OriGene Custom Protein Services for C8A  
     OriGene Custom Immunoassay Development  

         		 
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C8A
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C8A
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C8A
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C8A
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C8A
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C8A
     GenScript Custom Purified and Recombinant Proteins Services for C8A GenScript cDNA clones with any tag delivered in your preferred vector for C8A
     GenScript Custom Assay Services for C8A GenScript Custom Superior Antibodies Services for C8A
     GenScript Custom overexpressing Cell Line Services for C8A CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in C8A promoter
     Search Chromatin IP Primers for C8A
     RT2 qPCR Primer Assay in human, mouse, rat C8A
     Search GNC Networks for C8A
     SABiosciences PCR Arrays including human, mouse, rat C8A
     Search Tocris compounds for C8A
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     C8A antibodies
     C8A lysates
     Search for Antibodies for C8A at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for C8A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for C8A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8A
     SwitchGear 3'UTR luciferase reporter plasmids for C8A
     SwitchGear Promoter luciferase reporter plasmids for C8A
     Search ThermoFisher Antibodies for C8A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C8A
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 

    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Copyright © 1996-2013 , Weizmann Institute of Science. All Rights Reserved.
    Hot genes      Disease genes      C8A gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4