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    C8B complement C8 beta chain [ Homo sapiens (human) ]

    Gene ID: 732, updated on 17-Jun-2024

    Summary

    Official Symbol
    C8Bprovided by HGNC
    Official Full Name
    complement C8 beta chainprovided by HGNC
    Primary source
    HGNC:HGNC:1353
    See related
    Ensembl:ENSG00000021852 MIM:120960; AllianceGenome:HGNC:1353
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C82
    Summary
    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]
    Expression
    Restricted expression toward liver (RPKM 158.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See C8B in Genome Data Viewer
    Location:
    1p32.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (56929207..56966015, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (56807996..56844833, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (57394880..57431688, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr1:57230284-57230838 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8694 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_8756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1079 Neighboring gene FYN binding protein 2 Neighboring gene Sharpr-MPRA regulatory region 9770 Neighboring gene uncharacterized LOC112267900 Neighboring gene uncharacterized LOC105378748 Neighboring gene complement C8 alpha chain Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:57577767-57578301 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1080 Neighboring gene uncharacterized LOC105378747 Neighboring gene DAB adaptor protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC163447

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in complement activation, alternative pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in 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 exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular vesicle HDA PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of membrane attack complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of membrane attack complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of membrane attack complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_007285.1 RefSeqGene

      Range
      4876..41806
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_31

    mRNA and Protein(s)

    1. NM_000066.4NP_000057.3  complement component C8 beta chain isoform 1 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL121998
      Consensus CDS
      CCDS30730.1
      UniProtKB/Swiss-Prot
      A1L4K7, P07358
      UniProtKB/TrEMBL
      A0A8Q3WL56, A8K9M5
      Related
      ENSP00000360281.4, ENST00000371237.9
      Conserved Domains (3) summary
      smart00209
      Location:548591
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:292498
      MACPF; membrane-attack complex / perforin
      pfam00057
      Location:120155
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
    2. NM_001278543.2NP_001265472.2  complement component C8 beta chain isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL121998
      UniProtKB/TrEMBL
      B7Z555
      Conserved Domains (3) summary
      smart00209
      Location:496539
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:240446
      MACPF; membrane-attack complex / perforin
      pfam00057
      Location:68103
      Ldl_recept_a; Low-density lipoprotein receptor domain class A
    3. NM_001278544.2NP_001265473.2  complement component C8 beta chain isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (3) with a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL121998
      UniProtKB/TrEMBL
      B7Z550
      Conserved Domains (3) summary
      smart00209
      Location:486529
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:230436
      MACPF; membrane-attack complex / perforin
      pfam00057
      Location:5893
      Ldl_recept_a; Low-density lipoprotein receptor domain class A

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      56929207..56966015 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429957.1XP_047285913.1  complement component C8 beta chain isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      56807996..56844833 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338609.1XP_054194584.1  complement component C8 beta chain isoform X1