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Aliases for C8B Gene

Aliases for C8B Gene

  • Complement Component 8, Beta Polypeptide 2 3
  • Complement Component 8 Subunit Beta 3 4
  • Complement Component C8 Beta Chain 3
  • C82 3

External Ids for C8B Gene

Summaries for C8B Gene

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 c8 deficiency, type ii and immunodeficiency due to a late component of complements deficiency. Among its related pathways are Complement and coagulation cascades and Amoebiasis. GO annotations related to this gene include protein complex binding. An important paralog of this gene is C6.

UniProtKB/Swiss-Prot for C8B Gene

  • 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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C8B Gene

Genomics for C8B Gene

Genomic Location for C8B Gene

Start:
56,929,210 bp from pter
End:
56,968,277 bp from pter
Size:
39,068 bases
Orientation:
Minus strand

Genomic View for C8B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C8B Gene

Regulatory Elements for C8B Gene

Proteins for C8B Gene

  • Protein details for C8B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07358-CO8B_HUMAN
    Recommended name:
    Complement component C8 beta chain
    Protein Accession:
    P07358
    Secondary Accessions:
    • A1L4K7

    Protein attributes for C8B Gene

    Size:
    591 amino acids
    Molecular mass:
    67047 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for C8B Gene

neXtProt entry for C8B Gene

Proteomics data for C8B Gene at MOPED

Post-translational modifications for C8B Gene

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

Other Protein References for C8B Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for C8B Gene

Domains for C8B Gene

Gene Families for C8B Gene

HGNC:

UniProtKB/Swiss-Prot:

CO8B_HUMAN
Domain:
  • Contains 1 EGF-like domain.:
    • P07358
  • Contains 1 LDL-receptor class A domain.:
    • P07358
  • Contains 1 MACPF domain.:
    • P07358
  • Contains 2 TSP type-1 domains.:
    • P07358
Family:
  • Belongs to the complement C6/C7/C8/C9 family.:
    • P07358
genes like me logo Genes that share domains with C8B: view

Function for C8B Gene

Molecular function for C8B Gene

GENATLAS Biochemistry: complement component 8,gamma-1 globulin,beta polypeptide,66.9kDa,(<2.5kb,3 from C8A)
UniProtKB/Swiss-Prot 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

Gene Ontology (GO) - Molecular Function for C8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0032403 protein complex binding IEA --
genes like me logo Genes that share ontologies with C8B: view

Phenotypes for C8B Gene

MGI mutant phenotypes for C8B:
inferred from 1 alleles
GenomeRNAi human phenotypes for C8B:
genes like me logo Genes that share phenotypes with C8B: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for C8B Gene

Localization for C8B Gene

Subcellular locations from UniProtKB/Swiss-Prot for C8B Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C8B Gene COMPARTMENTS Subcellular localization image for C8B gene
Compartment Confidence
extracellular 5
plasma membrane 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for C8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005579 membrane attack complex IEA --
GO:0005615 extracellular space IEA --
GO:0016020 membrane TAS 2820472
GO:0031982 vesicle IDA 24769233
genes like me logo Genes that share ontologies with C8B: view

Pathways for C8B Gene

genes like me logo Genes that share pathways with C8B: view

Gene Ontology (GO) - Biological Process for C8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response TAS 8098723
GO:0006956 complement activation TAS 8098723
GO:0006957 complement activation, alternative pathway IEA --
GO:0006958 complement activation, classical pathway IEA --
GO:0019835 cytolysis IEA --
genes like me logo Genes that share ontologies with C8B: view

Transcripts for C8B Gene

Unigene Clusters for C8B Gene

Complement component 8, beta polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for C8B Gene

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

Relevant External Links for C8B Gene

GeneLoc Exon Structure for
C8B
ECgene alternative splicing isoforms for
C8B

Expression for C8B Gene

mRNA expression in normal human tissues for C8B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C8B Gene

This gene is overexpressed in Liver (52.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for C8B Gene

SOURCE GeneReport for Unigene cluster for C8B Gene Hs.391835

genes like me logo Genes that share expressions with C8B: view

Orthologs for C8B Gene

This gene was present in the common ancestor of chordates.

Orthologs for C8B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C8B 36
  • 99.27 (n)
  • 99.15 (a)
C8B 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C8B 36
  • 85.54 (n)
  • 82.71 (a)
C8B 37
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C8B 36
  • 86.89 (n)
  • 85.08 (a)
C8B 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C8b 36
  • 79.36 (n)
  • 75.99 (a)
C8b 16
C8b 37
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C8B 37
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C8B 37
  • 43 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C8b 36
  • 81.07 (n)
  • 79.42 (a)
chicken
(Gallus gallus)
Aves C8B 36
  • 67.01 (n)
  • 62.56 (a)
C8B 37
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C8B 37
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9695 36
tropical clawed frog
(Silurana tropicalis)
Amphibia c8b 36
  • 64.36 (n)
  • 60.55 (a)
Str.8500 36
zebrafish
(Danio rerio)
Actinopterygii c8b 36
  • 54.69 (n)
  • 49.81 (a)
c8b 37
  • 47 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 30 (a)
ManyToMany
-- 37
  • 24 (a)
ManyToMany
-- 37
  • 20 (a)
ManyToMany
-- 37
  • 24 (a)
ManyToMany
-- 37
  • 27 (a)
ManyToMany
-- 37
  • 23 (a)
ManyToMany
Species with no ortholog for C8B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C8B Gene

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

Paralogs for C8B Gene

Paralogs for C8B Gene

Selected SIMAP similar genes for C8B Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with C8B: view

Variants for C8B Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for C8B Gene

P07358-CO8B_HUMAN
The sequence shown is that of allotype C8B B

Sequence variations from dbSNP and Humsavar for C8B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs2795 -- 56,929,347(-) ACTCA(A/C/T)GCCAG utr-variant-3-prime
rs581992 -- 56,934,253(-) CACTT(A/T)GCTGG intron-variant
rs582317 -- 56,948,095(-) TAGCA(C/T)TGGGC intron-variant
rs585762 -- 56,955,284(-) AATAG(C/T)ACTGA intron-variant
rs586902 -- 56,959,062(-) CCAGT(A/G)TTCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C8B Gene

Variant ID Type Subtype PubMed ID
esv2557221 CNV Insertion 19546169

Relevant External Links for C8B Gene

HapMap Linkage Disequilibrium report
C8B
Human Gene Mutation Database (HGMD)
C8B
Locus Specific Mutation Databases (LSDB)
C8B

Disorders for C8B Gene

(1) OMIM Diseases for C8B Gene (120960)

UniProtKB/Swiss-Prot

CO8B_HUMAN
  • 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.

Genatlas disease for C8B Gene

recurrent,neisserial infections,C8 deficiency,type II characterized by essentially meningitis

Relevant External Links for C8B

Genetic Association Database (GAD)
C8B
Human Genome Epidemiology (HuGE) Navigator
C8B
genes like me logo Genes that share disorders with C8B: view

Publications for C8B Gene

  1. 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. (PMID: 2820472) Howard O.M.Z. … Sodetz J.M. (Biochemistry 1987) 3 4
  2. Complementary DNA cloning of complement C8 beta and its sequence homology to C9. (PMID: 3651397) Haefliger J.-A. … Stanley K.K. (Biochemistry 1987) 3 4
  3. The eighth component of human complement. Purification and physicochemical characterization of its unusual subunit structure. (PMID: 7440581) Steckel E.W. … Sodetz J.M. (J. Biol. Chem. 1980) 3 4
  4. Human complement component C8. Molecular basis of the beta-chain polymorphism. (PMID: 8131848) Dewald G. … Noethen M.M. (FEBS Lett. 1994) 3 4
  5. The four terminal components of the complement system are C- mannosylated on multiple tryptophan residues. (PMID: 10551839) Hofsteenge J. … Miroshnichenko O. (J. Biol. Chem. 1999) 3 4

Products for C8B Gene

Sources for C8B Gene

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