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

Gene ID: 732, updated on 26-Nov-2021

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
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
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Genomic context

See C8B in Genome Data Viewer
Location:
1p32.2
Exon count:
15
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (56929207..56974383, complement)
105.20201022 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 Sharpr-MPRA regulatory region 9770 Neighboring gene uncharacterized LOC105378745 Neighboring gene uncharacterized LOC112267900 Neighboring gene uncharacterized LOC105378748 Neighboring gene complement C8 alpha chain 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

Homology

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 TAS
Traceable Author Statement
more info
PubMed 
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 cytolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in immune response TAS
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)

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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.

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
    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
    Consensus CDS
    CCDS60152.1
    Related
    ENSP00000442548.1, ENST00000543257.5
    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
    Consensus CDS
    CCDS60151.1
    Related
    ENSP00000440113.1, ENST00000535057.5
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    56929207..56974383 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002235.1XP_016857724.1  complement component C8 beta chain isoform X1

    UniProtKB/Swiss-Prot
    P07358
    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

RNA

  1. XR_001737397.1 RNA Sequence

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