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

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These data provide a detailed specification of co-occurring C8 proteoforms, including experimental evidence on N-glycosylation, C-mannosylation, and O-glycosylation.
Title: Comprehensive Proteoform Characterization of Plasma Complement Component C8αβγ by Hybrid Mass Spectrometry Approaches.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
Complement C5b-9 induce a JNK/Bid-dependent and JNK-independent necrotic cell death.
Title: Involvement of the c-jun N-terminal kinases JNK1 and JNK2 in complement-mediated cell death.
Cell cycle induction by C5b-9 in aortic endothelial cells is RGC-32 dependent and this is in part through regulation of Akt and growth factor release.
Title: Response gene to complement 32 is required for C5b-9 induced cell cycle activation in endothelial cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Risk of meningioma and common variation in genes related to innate immunity.
The binding specificity between C8 beta and C8 alpha subunits is determined by a cooperative interaction of the N-terminal thrombospondin type 1 module and the membrane attack complex/perforin domain.
Title: Interaction between the C8 alpha-gamma and C8 beta subunits of human complement C8: role of the C8 beta N-terminal thrombospondin type 1 module and membrane attack complex/perforin domain.
C8 alpha and C8 beta have correspondingly similar roles in MAC-mediated lysis of erythrocytes and bacterial killing. C8 gamma is not required for complement-mediated killing of Gram-negative bacteria.
Title: Role of the human C8 subunits in complement-mediated bacterial killing: evidence that C8 gamma is not essential.
results indicate that the principal binding site for C9 lies within the MACPF domain of C8alpha; they also suggest this site and the binding sites for C8beta and C8gamma are distinct
Title: Functional studies of the MACPF domain of human complement protein C8alpha reveal sites for simultaneous binding of C8beta, C8gamma, and C9.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74888 (e-PCR)
- UniSTS:72960

D1S519 (e-PCR)
- UniSTS:5394

SHGC-74885 (e-PCR)
- UniSTS:61467

GDB:352688 (e-PCR)
- UniSTS:156701

WI-8974 (e-PCR)
- UniSTS:27441

G60243 (e-PCR)
- UniSTS:137351

SHGC-33530 (e-PCR)
- UniSTS:79527

SHGC-74868 (e-PCR)
- UniSTS:14760

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 more info	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 more info	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

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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

NG_007285.1 RefSeqGene

Range

4876..41806

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_31

mRNA and Protein(s)

NM_000066.4 → NP_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:548 → 591

TSP1; Thrombospondin type 1 repeats

smart00457
Location:292 → 498

MACPF; membrane-attack complex / perforin

pfam00057
Location:120 → 155

Ldl_recept_a; Low-density lipoprotein receptor domain class A
NM_001278543.2 → NP_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:496 → 539

TSP1; Thrombospondin type 1 repeats

smart00457
Location:240 → 446

MACPF; membrane-attack complex / perforin

pfam00057
Location:68 → 103

Ldl_recept_a; Low-density lipoprotein receptor domain class A
NM_001278544.2 → NP_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:486 → 529

TSP1; Thrombospondin type 1 repeats

smart00457
Location:230 → 436

MACPF; membrane-attack complex / perforin

pfam00057
Location:58 → 93

Ldl_recept_a; Low-density lipoprotein receptor domain class A