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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 Complement Component 8 Deficiency, Type Ii and Immunodeficiency Due To A Late Component Of Complement Deficiency. Among its related pathways are Creation of C4 and C2 activators and Complement and coagulation cascades. Gene Ontology (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.

Additional gene information for C8B Gene

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

Genomics for C8B Gene

GeneHancer (GH) Regulatory Elements for C8B Gene

Promoters and enhancers for C8B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I056966 Promoter 1.1 EPDnew 550.8 +0.1 105 0.1 FOXA2 ARID4B RAD21 RARA YY1 CREM RXRA MIER2 REST KAT8 C8B LOC105378745
GH01I056907 Enhancer 1.2 FANTOM5 ENCODE 21.7 +56.2 56172 4.2 FOXA2 ARID4B DMAP1 ZNF48 ETS1 YY1 TCF12 RXRA SP5 NCOA1 C8B C8A FYB2 GC01P056889 LOC105378745
GH01I056574 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.6 +387.5 387547 7.6 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF121 ZNF143 SP3 PLPP3 C8A FYB2 C8B PRKAA2 RPL23AP85 GC01P056539
GH01I056919 Enhancer 0.9 ENCODE 11.1 +46.3 46257 0.2 ELF3 FOXA2 MLX RAD21 THRB ZSCAN9 RARA YY1 CREM THAP11 C8B GC01P056889 LOC105378745
GH01I057033 Enhancer 0.7 ENCODE 8.7 -67.9 -67936 1.5 PKNOX1 FOXA2 MAX RAD21 YY1 HNF4G RUNX3 RXRA REST FOXA1 C8B LOC105378748 LOC105378747
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C8B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C8B gene promoter:

Genomic Locations for C8B Gene

Genomic Locations for C8B Gene
chr1:56,929,210-56,966,140
(GRCh38/hg38)
Size:
36,931 bases
Orientation:
Minus strand
chr1:57,394,883-57,431,813
(GRCh37/hg19)

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 posLast=7070, posLast=7373, Asn101, Asn243, posLast=551551, and Trp554

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P07358

UniProtKB/Swiss-Prot:

CO8B_HUMAN :
  • Belongs to the complement C6/C7/C8/C9 family.
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.

Phenotypes From GWAS Catalog for C8B Gene

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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C8B gene
Compartment Confidence
plasma membrane 5
extracellular 5
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 IDA,IEA 22832194
GO:0005615 extracellular space IEA --
GO:0016020 membrane TAS 2820472
GO:0070062 extracellular exosome HDA,IDA 23533145
genes like me logo Genes that share ontologies with C8B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C8B Gene

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 TAS,IEA 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

Drugs & Compounds for C8B Gene

(2) Drugs for C8B Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 202
Zinc Approved, Investigational Pharma Target 2430
genes like me logo Genes that share compounds with C8B: view

Transcripts for C8B Gene

Unigene Clusters for C8B Gene

Complement component 8, beta polypeptide:
Representative Sequences:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for C8B Gene

  • Liver(4.6)
  • Bone marrow(4.1)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C8B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • mouth
  • neck
  • pharynx
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • prostate
  • rectum
  • testicle
  • urethra
  • vagina
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • lymph node
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with C8B: view

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 33 34
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia C8B 33 34
  • 86.89 (n)
cow
(Bos Taurus)
Mammalia C8B 33 34
  • 85.54 (n)
rat
(Rattus norvegicus)
Mammalia C8b 33
  • 81.07 (n)
mouse
(Mus musculus)
Mammalia C8b 33 16 34
  • 79.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C8B 34
  • 43 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C8B 34
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves C8B 33 34
  • 67.01 (n)
lizard
(Anolis carolinensis)
Reptilia C8B 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c8b 33
  • 64.36 (n)
Str.8500 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.9695 33
zebrafish
(Danio rerio)
Actinopterygii c8b 33 34
  • 54.69 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
ManyToMany
-- 34
  • 27 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
-- 34
  • 24 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
-- 34
  • 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 Variation AA Info Type
rs140813121 pathogenic, Complement component 8 deficiency type 2 56,949,599(-) G/A/T coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs146187042 pathogenic, Complement component 8 deficiency type 2 56,956,889(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs150022116 pathogenic, Complement component 8 deficiency type 2 56,956,799(-) G/A/T coding_sequence_variant, non_coding_transcript_variant, stop_gained, synonymous_variant
rs372968576 pathogenic, Complement component 8 deficiency type 2 56,956,824(-) GG/G coding_sequence_variant, frameshift, non_coding_transcript_variant
rs398122867 pathogenic, Complement component 8 deficiency type 2 56,952,109(-) GGGG/GGG coding_sequence_variant, frameshift, non_coding_transcript_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)

Additional Variant Information 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: HGMD, OMIM, ClinVar, GTR, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
complement component 8 deficiency, type ii
  • c8d2
immunodeficiency due to a late component of complement deficiency
  • immunodeficiency due to c5 to c9 component complement deficiency
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

Additional Disease Information for C8B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 LL … Lebioda L (The Journal of biological chemistry 2011) 3 4 58
  2. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58
  4. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. (PMID: 19344414) Cerhan JR … Slager SL (British journal of haematology 2009) 3 44 58
  5. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. (PMID: 18842294) Ennis S … Lotery A (Lancet (London, England) 2008) 3 44 58

Products for C8B Gene

Sources for C8B Gene

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