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Aliases for C8B Gene

Aliases for C8B Gene

  • Complement Component 8, Beta Polypeptide 2 3 5
  • Complement Component 8 Subunit Beta 3 4
  • C82 3

External Ids for C8B Gene

Previous GeneCards Identifiers for C8B Gene

  • GC01M057311
  • GC01M056309
  • GC01M056752
  • GC01M056764
  • GC01M057106
  • GC01M055507

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 complement deficiency. Among its related pathways are Amoebiasis and Complement and coagulation cascades. 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

Regulatory Elements for C8B Gene

Enhancers for C8B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C8B on UCSC Golden Path with GeneCards custom track

Genomic Location for C8B Gene

Chromosome:
1
Start:
56,929,210 bp from pter
End:
56,966,140 bp from pter
Size:
36,931 bases
Orientation:
Minus strand

Genomic View for C8B Gene

Genes around C8B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C8B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C8B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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.
  • Glycosylation at Trp 70, Trp 73, Asn 101, Asn 243, Trp 551, and Trp 554
  • Modification sites at PhosphoSitePlus

Other Protein References for C8B Gene

Antibody Products

No data available for DME Specific Peptides for C8B Gene

Domains & Families for C8B Gene

Gene Families for C8B Gene

Graphical View of Domain Structure for InterPro Entry

P07358

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for C8B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets 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 4
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for C8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0016020 membrane TAS 2820472
genes like me logo Genes that share ontologies with C8B: view

Pathways & Interactions 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:0006956 complement activation TAS 8098723
GO:0006958 complement activation, classical pathway IEA --
GO:0030449 regulation of complement activation TAS --
genes like me logo Genes that share ontologies with C8B: view

No data available for SIGNOR curated interactions for C8B Gene

Drugs & Compounds for C8B Gene

No Compound Related Data Available

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 (x52.5).

Protein differential expression in normal tissues from HIPED for C8B Gene

This gene is overexpressed in Plasma (24.2), Serum (17.5), and Synovial fluid (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with C8B: view

Protein tissue co-expression partners for C8B Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for C8B Gene

Orthologs for C8B Gene

This gene was present in the common ancestor of chordates.

Orthologs for C8B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C8B 35
  • 85.54 (n)
  • 82.71 (a)
C8B 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C8B 35
  • 86.89 (n)
  • 85.08 (a)
C8B 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C8b 35
  • 79.36 (n)
  • 75.99 (a)
C8b 16
C8b 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C8B 35
  • 99.27 (n)
  • 99.15 (a)
C8B 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C8b 35
  • 81.07 (n)
  • 79.42 (a)
oppossum
(Monodelphis domestica)
Mammalia C8B 36
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C8B 36
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves C8B 35
  • 67.01 (n)
  • 62.56 (a)
C8B 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C8B 36
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c8b 35
  • 64.36 (n)
  • 60.55 (a)
Str.8500 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.9695 35
zebrafish
(Danio rerio)
Actinopterygii c8b 35
  • 54.69 (n)
  • 49.81 (a)
c8b 36
  • 47 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
ManyToMany
-- 36
  • 24 (a)
ManyToMany
-- 36
  • 20 (a)
ManyToMany
-- 36
  • 24 (a)
ManyToMany
-- 36
  • 27 (a)
ManyToMany
-- 36
  • 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

(3) 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
rs1013579 - 56,956,811(-) CATGC(A/G)GAAGT reference, missense
rs12067507 - 56,956,838(+) GTCTT(C/T)GACTT reference, missense
rs12085435 - 56,949,637(+) TTCCA(A/G)GTATT reference, missense
rs2795 -- 56,929,347(-) ACTCA(A/C/T)GCCAG utr-variant-3-prime
rs591730 -- 56,930,341(-) TAAAT(C/T)GTGAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2557221 CNV Insertion 19546169

Variation tolerance for C8B Gene

Residual Variation Intolerance Score: 89.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.94; 67.95% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C8B Gene

HapMap Linkage Disequilibrium report
C8B
Human Gene Mutation Database (HGMD)
C8B

Disorders for C8B Gene

MalaCards: The human disease database

(3) MalaCards diseases for C8B Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
c8 deficiency, type ii
  • type ii complement component 8 deficiency
immunodeficiency due to a late component of complement deficiency
  • deficiency of complement of terminal pathway
complement component 8 deficiency
  • c8 deficiency
- elite association - COSMIC cancer census association via MalaCards
Search C8B in MalaCards View complete list of genes associated with diseases

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C8B
genes like me logo Genes that share disorders with C8B: view

Publications for C8B Gene

  1. Structure of human C8 protein provides mechanistic insight into membrane pore formation by complement. (PMID: 21454577) Lovelace L.L. … Lebioda L. (J. Biol. Chem. 2011) 3 4 67
  2. Proteomic analysis of cerebrospinal fluid extracellular vesicles: a comprehensive dataset. (PMID: 24769233) Chiasserini D. … JimAcnez C.R. (J Proteomics 2014) 3
  3. In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. (PMID: 23533145) Principe S. … Drake R.R. (Proteomics 2013) 3
  4. Structure of human complement C8, a precursor to membrane attack. (PMID: 21073882) Bubeck D. … Lea S.M. (J. Mol. Biol. 2011) 3
  5. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S. … Seielstad M. (Genes Immun. 2010) 3

Products for C8B Gene

Sources for C8B Gene

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