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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

    Gene LinkOut

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