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

Gene ID: 732, updated on 10-Dec-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
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Genomic context

See C8B in Genome Data Viewer
Location:
1p32.2
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (56929207..56966015, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (56807996..56844833, complement)
RS_2024_09 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Type II complement component 8 deficiency
MedGen: C3151080 OMIM: 613789 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC163447

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in extracellular exosome PubMed 
located_in extracellular region  
is_active_in extracellular space  
located_in extracellular vesicle PubMed 
located_in membrane PubMed 
part_of membrane attack complex  
part_of membrane attack complex PubMed 
part_of membrane attack complex PubMed 
located_in plasma membrane 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
    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_2024_08

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

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