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

Gene ID: 110382, updated on 21-Apr-2024

Summary

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Official Symbol
C8bprovided by MGI
Official Full Name
complement component 8, beta polypeptideprovided by MGI
Primary source
MGI:MGI:88236
See related
Ensembl:ENSMUSG00000029656 AllianceGenome:MGI:88236
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
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
human all
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Genomic context

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Location:
4 C6; 4 48.61 cM
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (104623514..104661745)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (104766317..104804548)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene disabled 1 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene predicted gene, 36661 Neighboring gene STARR-seq mESC enhancer starr_10944 Neighboring gene STARR-seq mESC enhancer starr_10945 Neighboring gene STARR-seq mESC enhancer starr_10949 Neighboring gene STARR-seq mESC enhancer starr_10950 Neighboring gene predicted gene, 40216 Neighboring gene complement component 8, alpha polypeptide Neighboring gene FYN binding protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Gene responsible for deficient activity of the beta subunit of C8, the eighth component of complement, is located on mouse chromosome 4. Tanaka S, et al. Immunogenetics, 1991. PMID 1995474
  2. Genetic map of rat chromosome 5 including the fatty (fa) locus. Truett GE, et al. Mamm Genome, 1995 Jan. PMID 7719022
  3. Microdissection and microcloning of mid-chromosome 4: genetic mapping of 41 microdissection clones. Bahary N, et al. Genomics, 1993 Apr. PMID 8098006
  4. CryoEM reveals how the complement membrane attack complex ruptures lipid bilayers. Menny A, et al. Nat Commun, 2018 Dec 14. PMID 30552328, Free PMC Article
  5. The gene encoding disabled-1 (DAB1), the intracellular adaptor of the Reelin pathway, reveals unusual complexity in human and mouse. Bar I, et al. J Biol Chem, 2003 Feb 21. PMID 12446734

See all (22) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1)  1 citation
  • Targeted (2) 
  • Endonuclease-mediated (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in complement activation IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within complement activation, alternative pathway IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in immune response IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within innate immune response IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within killing of cells of another organism IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of immune response NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region ISO
Inferred from Sequence Orthology
more info
  
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space ISO
Inferred from Sequence Orthology
more info
  
part_of membrane attack complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of membrane attack complex ISO
Inferred from Sequence Orthology
more info
  
located_in plasma membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001316671.1 → NP_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
    ENSMUSP00000066940.7, ENSMUST00000065072.7
    Conserved Domains (3) summary
    smart00209
    Location:481 → 523
    TSP1; Thrombospondin type 1 repeats
    smart00457
    Location:225 → 430
    MACPF; membrane-attack complex / perforin
    pfam00057
    Location:119 → 154
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

  2. NM_133882.2 → NP_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
    Q4VAH1, Q8BH35, Q8CHJ5, Q8CHJ6, Q8VC14
    Related
    ENSMUSP00000031663.4, ENSMUST00000031663.10
    Conserved Domains (3) summary
    smart00209
    Location:547 → 589
    TSP1; Thrombospondin type 1 repeats
    smart00457
    Location:291 → 496
    MACPF; membrane-attack complex / perforin
    pfam00057
    Location:119 → 154
    Ldl_recept_a; Low-density lipoprotein receptor domain class A

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    104623514..104661745
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BH35.1 GenPept UniProtKB/Swiss-Prot:Q8BH35

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