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 w... See more...

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 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 C8 Beta Chain) is a Protein Coding gene. Diseases associated with C8B include Complement Component 8 Deficiency, Type Ii and Complement Component 6 Deficiency. Among its related pathways are Immune response Lectin induced complement pathway and Complement Pathway. An important paralog of this gene is C8A.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
GH01J056966 Promoter/Enhancer 1.2 EPDnew Ensembl 500.7 +0.0 39 0.6 POLR2G NCOR1 KDM6A FOXA1 TGIF2 SKI TEAD1 ZBTB26 FOXA2 SIN3A C8B LOC105378745 lnc-C8B-1 ENSG00000236341
GH01J056907 Enhancer 1.3 FANTOM5 Ensembl ENCODE 21.7 +56.2 56172 4.2 EP300 FOXK2 POLR2G NCOR1 KDM6A TCF7 RUNX1 CTBP1 ZBTB7A SKI C8B C8A FYB2 lnc-DAB1-2
GH01J056572 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 6.6 +388.9 388910 10.3 ZNF217 CTCF ZSCAN5C SIN3A POLR2G NCOR1 ZFX ZIC2 REST POLR2A PLPP3 C8A FYB2 C8B RPSAP20 PRKAA2 RPL23AP85 lnc-FYB2-4 lnc-PRKAA2-9 LOC101929935
GH01J057024 Enhancer 0.5 Ensembl 24.9 -59.0 -58961 1 REST CTCF POLR2A SMARCA4 TFAP4 HLF HNRNPL HNRNPLL C8B ENSG00000236341 LOC105378748 LOC105378747
GH01J056973 Enhancer 0.6 Ensembl 21.3 -8.3 -8261 0.8 CEBPB CEBPG SPI1 JUND RXRA ATF4 POLR2A HNF4A HLF ATF3 C8B LOC105378745 ENSG00000236341 lnc-C8B-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C8B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C8B

Top Transcription factor binding sites by QIAGEN in the C8B gene promoter:
  • AhR
  • Arnt
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • FAC1
  • S8

Genomic Locations for C8B Gene

Genomic Locations for C8B Gene
chr1:56,929,207-56,966,140
(GRCh38/hg38)
Size:
36,934 bases
Orientation:
Minus strand
chr1:57,394,883-57,431,813
(GRCh37/hg19)
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 Trp70, Trp73, Asn101, Asn243, Trp551, and Trp554
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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

Protein Domains for C8B Gene

Blocks:
  • Thrombospondin, type I
  • Thrombospondin type 1 repeat signature
  • Low density lipoprotein-receptor, class A
  • Membrane attack complex component/perforin/complement C9
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C8B Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ93915, highly similar to Homo sapiens complement component 8, beta polypeptide (C8B), mRNA (A1L4K7_HUMAN)
  • cDNA FLJ59731, highly similar to Complement component C8 beta chain (B7Z550_HUMAN)
  • Complement component 8 subunit beta (CO8B_HUMAN)
  • C8B protein (Q05CV3_HUMAN)

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

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.
GENATLAS Biochemistry:
complement component 8,gamma-1 globulin,beta polypeptide,66.9kDa,(<2.5kb,3' from C8A)

Phenotypes From GWAS Catalog for C8B Gene

Gene Ontology (GO) - Molecular Function for C8B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0044877 protein-containing 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 Models for C8B Gene

MGI Knock Outs for C8B:
  • C8b C8b<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
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 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

PathCards logo

SuperPathways for C8B Gene

SuperPathway Contained pathways
1 Complement Pathway
.62
.01
.01
.01
2 Immune response Lectin induced complement pathway
.56
.56
.55
3 Creation of C4 and C2 activators
4 Innate Immune System
5 Amoebiasis
genes like me logo Genes that share pathways with C8B: view

Pathways by source for C8B Gene

3 GeneGo (Thomson Reuters) pathways for C8B Gene
  • Immune response Alternative complement pathway
  • Immune response Classical complement pathway
  • Immune response Lectin induced complement pathway
4 Qiagen pathways for C8B Gene
  • Alternative Complement Pathway
  • Classical Complement Pathway
  • Complement Pathway
  • Lectin Induced Complement Pathway

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,IEA 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

(4) Drugs for C8B Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 236
Zinc Approved, Investigational Pharma Target 2822
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target 0
genes like me logo Genes that share compounds with C8B: view

Transcripts for C8B Gene

mRNA/cDNA for C8B Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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

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 and MOPED for C8B Gene



Protein tissue co-expression partners for C8B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C8B 31 30
  • 86.89 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C8B 31 30
  • 85.54 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia C8b 30
  • 81.07 (n)
mouse
(Mus musculus)
Mammalia C8b 17 31 30
  • 79.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C8B 31
  • 43 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C8B 31
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves C8B 31 30
  • 67.01 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C8B 31
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c8b 30
  • 64.36 (n)
Str.8500 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.9695 30
zebrafish
(Danio rerio)
Actinopterygii c8b 31 30
  • 54.69 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
ManyToMany
-- 31
  • 27 (a)
ManyToMany
-- 31
  • 24 (a)
ManyToMany
-- 31
  • 24 (a)
ManyToMany
-- 31
  • 23 (a)
ManyToMany
-- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for C8B: view image

Paralogs for C8B Gene

(3) SIMAP similar genes for C8B Gene using alignment to 5 proteins:

  • CO8B_HUMAN
  • B7Z550_HUMAN
  • F5GY80_HUMAN
  • F5H7G1_HUMAN
  • Q05CV3_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C8B Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
709332 Benign: not provided 56,940,960(-) T/G SYNONYMOUS_VARIANT
710190 Benign: not provided 56,952,108(-) C/T SYNONYMOUS_VARIANT
725425 Benign: not provided 56,945,852(-) G/A SYNONYMOUS_VARIANT
745025 Likely Benign: not provided 56,949,695(-) G/A MISSENSE_VARIANT
770848 Likely Benign: not provided 56,929,555(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for C8B Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for C8B Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
complement component 8 deficiency, type ii
  • c8d2
complement component 6 deficiency
  • c6d
immunodeficiency due to a late component of complement deficiency
  • immunodeficiency due to c5 to c9 component complement deficiency
complement component 8 deficiency
  • c8 deficiency
ileum cancer
  • ileal neoplasm
- 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 54
  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 41 54
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 41 54
  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 41 54
  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 41 54

Products for C8B Gene

  • Signalway ELISA kits for C8B
  • Signalway Proteins for C8B

Sources for C8B Gene