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C8b complement component 8, beta polypeptide [ Mus musculus (house mouse) ]

Gene ID: 110382, updated on 12-Aug-2018

Summary

Official Symbol
C8bprovided by MGI
Official Full Name
complement component 8, beta polypeptideprovided by MGI
Primary source
MGI:MGI:88236
See related
Ensembl:ENSMUSG00000029656 Vega:OTTMUSG00000008115
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
AI595927; 4930439B20Rik
Summary
This gene encodes the beta subunit of complement component C8 that participates in the assembly of the complement membrane attack complex. The encoded preproprotein undergoes proteolytic processing to generate the beta subunit, which associates with the alpha and gamma subunits to form a trimeric complement component, C8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. This gene is located adjacent to the gene encoding the alpha subunit. [provided by RefSeq, Oct 2015]
Expression
Biased expression in liver E18 (RPKM 92.7), liver adult (RPKM 25.5) and 2 other tissues See more
Orthologs

Genomic context

See C8b in Genome Data Viewer
Location:
4 C6; 4 48.61 cM
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 4 NC_000070.6 (104766317..104804548)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (104438922..104477153)

Chromosome 4 - NC_000070.6Genomic Context describing neighboring genes Neighboring gene disabled 1 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene predicted gene, 36661 Neighboring gene predicted gene, 40216 Neighboring gene complement component 8, alpha polypeptide Neighboring gene FYN binding protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from BioSystems

  • Allograft Rejection, organism-specific biosystem (from WikiPathways)
    Allograft Rejection, organism-specific biosystemThis pathway illustrates molecular interactions involved in the fundamental adaptive immune response for allograft destruction. This pathway was adapted in large part from the KEGG pathway http://www...
  • Amoebiasis, organism-specific biosystem (from KEGG)
    Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Amoebiasis, conserved biosystem (from KEGG)
    Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
  • Complement Activation, Classical Pathway, organism-specific biosystem (from WikiPathways)
    Complement Activation, Classical Pathway, organism-specific biosystem
    Complement Activation, Classical Pathway
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement cascade, organism-specific biosystem (from REACTOME)
    Complement cascade, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • Prion diseases, organism-specific biosystem (from KEGG)
    Prion diseases, organism-specific biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
  • Prion diseases, conserved biosystem (from KEGG)
    Prion diseases, conserved biosystemPrion diseases, also termed transmissible spongiform encephalopathies (TSEs), are a group of fatal neurodegenerative diseases that affect humans and a number of other animal species. The etiology of ...
  • Regulation of Complement cascade, organism-specific biosystem (from REACTOME)
    Regulation of Complement cascade, organism-specific biosystemcomputationally inferred pathway (not manually curated)
  • Systemic lupus erythematosus, organism-specific biosystem (from KEGG)
    Systemic lupus erythematosus, organism-specific biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Systemic lupus erythematosus, conserved biosystem (from KEGG)
    Systemic lupus erythematosus, conserved biosystemSystemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and cert...
  • Terminal pathway of complement, organism-specific biosystem (from REACTOME)
    Terminal pathway of complement, organism-specific biosystemcomputationally inferred pathway (not manually curated)

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
complement activation IEA
Inferred from Electronic Annotation
more info
 
complement activation, alternative pathway IEA
Inferred from Electronic Annotation
more info
 
complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
cytolysis IEA
Inferred from Electronic Annotation
more info
 
immune response IEA
Inferred from Electronic Annotation
more info
 
immune system process IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region ISO
Inferred from Sequence Orthology
more info
 
extracellular space ISO
Inferred from Sequence Orthology
more info
 
membrane attack complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
complement component C8 beta chain
Names
complement component 8, beta subunit

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001316671.1NP_001303600.1  complement component C8 beta chain isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame internal exon, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1. This isoform (2) may under proteolytic processing similar to isoform 1.
    Source sequence(s)
    AK050313
    Consensus CDS
    CCDS84762.1
    UniProtKB/Swiss-Prot
    Q8BH35
    Related
    ENSMUSP00000066940.6, OTTMUSP00000008474, ENSMUST00000065072.6, OTTMUST00000018445
    Conserved Domains (3) summary
    smart00209
    Location:481523
    TSP1; Thrombospondin type 1 repeats
    smart00457
    Location:225430
    MACPF; membrane-attack complex / perforin
    pfam00057
    Location:119154
    Ldl_recept_a; Low-density lipoprotein receptor domain class A
  2. NM_133882.2NP_598643.1  complement component C8 beta chain isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_598643.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AK050313
    Consensus CDS
    CCDS18414.1
    UniProtKB/Swiss-Prot
    Q8BH35
    Related
    ENSMUSP00000031663.3, OTTMUSP00000008473, ENSMUST00000031663.9, OTTMUST00000018444
    Conserved Domains (3) summary
    smart00209
    Location:547589
    TSP1; Thrombospondin type 1 repeats
    smart00457
    Location:291496
    MACPF; membrane-attack complex / perforin
    pfam00057
    Location:119154
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000070.6 Reference GRCm38.p4 C57BL/6J

    Range
    104766317..104804548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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