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Aliases for C8B Gene

Aliases for C8B Gene

  • Complement C8 Beta Chain 2 3 5
  • 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

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 C8 Beta Chain) 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 Immune System and Complement Pathway. GO annotations related to this gene include protein complex binding. An important paralog of this gene is C8A.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F056907 1.2 FANTOM5 Ensembl ENCODE 21.7 +56.2 56173 4.2 ATF1 ARID4B DMAP1 ZNF48 YY1 SP5 ZHX2 MXD4 MIER2 PPARG C8B C8A C1orf168 GC01P056889 LOC105378745
GH01F056919 0.5 ENCODE 11.1 +46.3 46258 0.2 ELF3 MLX THRB ZSCAN9 RAD21 RARA CREM MIXL1 THAP11 HMG20B C8B GC01P056889 LOC105378745
GH01F057033 0.8 ENCODE 8.7 -67.9 -67936 1.5 PKNOX1 MTA2 RAD21 YY1 ATF3 CEBPA HNF4G MLLT1 ZBTB33 C8B LOC105378748 LOC105378747
GH01F056575 1.3 FANTOM5 ENCODE 6.6 +387.0 387038 6.6 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 ZNF121 ZNF263 SP3 REST C8A C1orf168 C8B PRKAA2 PLPP3 RPL23AP85 GC01P056539
GH01F057006 0.5 FANTOM5 3.8 -40.7 -40678 0.1 C1orf168 C8A C8B GC01P057000 LOC105378748
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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 proteolytic 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

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

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.

Gene Ontology (GO) - Molecular Function for C8B Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005579 membrane attack complex IEA --
GO:0005615 extracellular space IEA --
GO:0016020 membrane TAS 2820472
GO:0070062 extracellular exosome IDA 23533145
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:0006955 immune response IEA,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

No data available for SIGNOR curated interactions for C8B Gene

Transcripts for C8B Gene

Unigene Clusters for C8B Gene

Complement component 8, beta polypeptide:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for C8B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C8B Gene:

C8B

SOURCE GeneReport for Unigene cluster for C8B Gene:

Hs.391835
genes like me logo Genes that share expression patterns with C8B: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia C8B 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia C8B 34 35
  • 86.89 (n)
cow
(Bos Taurus)
Mammalia C8B 34 35
  • 85.54 (n)
rat
(Rattus norvegicus)
Mammalia C8b 34
  • 81.07 (n)
mouse
(Mus musculus)
Mammalia C8b 34 16 35
  • 79.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C8B 35
  • 43 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C8B 35
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves C8B 34 35
  • 67.01 (n)
lizard
(Anolis carolinensis)
Reptilia C8B 35
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c8b 34
  • 64.36 (n)
Str.8500 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.9695 34
zebrafish
(Danio rerio)
Actinopterygii c8b 34 35
  • 54.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
ManyToMany
-- 35
  • 27 (a)
ManyToMany
-- 35
  • 24 (a)
ManyToMany
-- 35
  • 24 (a)
ManyToMany
-- 35
  • 23 (a)
ManyToMany
-- 35
  • 20 (a)
ManyToMany
Species where no ortholog for C8B was found in the sources mined by GeneCards:
  • 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

CO8B_HUMAN-P07358
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
rs140813121 Pathogenic 56,949,599(+) GCCTC(A/G)ATCAC nc-transcript-variant, reference, stop-gained
rs146187042 Pathogenic 56,956,889(+) GGGCT(A/G)GAGCA nc-transcript-variant, reference, stop-gained
rs150022116 Pathogenic 56,956,799(+) ACATC(A/G/T)CACTT nc-transcript-variant, reference, synonymous-codon, stop-gained
rs372968576 Pathogenic 56,956,824(+) CTGTT(-/G)GTAAC nc-transcript-variant, reference, frameshift-variant
rs398122867 Pathogenic 56,952,109(-) CTCCC(-/C)GCATT nc-transcript-variant, reference, frameshift-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

Human Gene Mutation Database (HGMD)
C8B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 64
  2. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
  4. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. (PMID: 19344414) Cerhan J.R. … Slager S.L. (Br. J. Haematol. 2009) 3 46 64
  5. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. (PMID: 18842294) Ennis S. … Lotery A. (Lancet 2008) 3 46 64

Products for C8B Gene

Sources for C8B Gene

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