C8B Chromosome 1

Complement C8 beta chain

46 variants 46 Health Risk

Upload your DNA to see your personal genotypes for variants in C8B.

What This Gene Does

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]

Gene Info

Gene Group

"Complement system activation components|Membrane Attack complex"

Locus Type

gene with protein product

Location

1p32.2

Ensembl

ENSG00000021852

Associated Conditions (5)

Type II complement component 8 deficiency

Inborn genetic diseases

Cholangiocarcinoma

Complement component 6 deficiency

C8B-related disorder

Key Variants

RS116348786

Conflicting classifications of pathogenicity

Type II complement component 8 deficiency, Type II complement component 8 deficiency

Health Risk

RS144586148

Conflicting classifications of pathogenicity

Type II complement component 8 deficiency, Inborn genetic diseases, Type II complement component 8 deficiency

Health Risk

RS150022116

Conflicting classifications of pathogenicity

Type II complement component 8 deficiency, Type II complement component 8 deficiency

Health Risk

RS369993264

Conflicting classifications of pathogenicity

Type II complement component 8 deficiency, Inborn genetic diseases, Type II complement component 8 deficiency

Health Risk

RS377623911

Conflicting classifications of pathogenicity

Type II complement component 8 deficiency, Inborn genetic diseases, Type II complement component 8 deficiency

Health Risk

RS760472969

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS774792617

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS139498867

Likely benign; association

Health Risk

Health Risk

Health Risk

Health Risk

Health Risk

All Variants (46)

RSID	Category	Clinical Significance	Conditions
RS116348786	Health Risk	Conflicting classifications of pathogenicity	Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS144586148	Health Risk	Conflicting classifications of pathogenicity	Type II complement component 8 deficiency, Inborn genetic diseases, Type II complement component 8 deficiency
RS150022116	Health Risk	Conflicting classifications of pathogenicity	Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS369993264	Health Risk	Conflicting classifications of pathogenicity	Type II complement component 8 deficiency, Inborn genetic diseases, Type II complement component 8 deficiency
RS377623911	Health Risk	Conflicting classifications of pathogenicity	Type II complement component 8 deficiency, Inborn genetic diseases, Type II complement component 8 deficiency
RS760472969	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS774792617	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS139498867	Health Risk	Likely benign; association	—
RS1394604123	Health Risk	Likely pathogenic	—
RS1398395381	Health Risk	Likely pathogenic	—
RS1557725222	Health Risk	Likely pathogenic	—
RS1644937659	Health Risk	Likely pathogenic	—
RS2101487641	Health Risk	Likely pathogenic	—
RS2522795281	Health Risk	Likely pathogenic	—
RS766080403	Health Risk	Likely pathogenic	Cholangiocarcinoma, Cholangiocarcinoma
RS1175509707	Health Risk	Pathogenic	—
RS140813121	Health Risk	Pathogenic	Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS1428653006	Health Risk	Pathogenic	—
RS1464732473	Health Risk	Pathogenic	—
RS1467702188	Health Risk	Pathogenic	—
RS1557743907	Health Risk	Pathogenic	—
RS1645249331	Health Risk	Pathogenic	—
RS200077558	Health Risk	Pathogenic	—
RS2101385559	Health Risk	Pathogenic	—
RS2101408848	Health Risk	Pathogenic	—
RS2522722829	Health Risk	Pathogenic	—
RS2522731492	Health Risk	Pathogenic	—
RS2522747844	Health Risk	Pathogenic	—
RS2522748423	Health Risk	Pathogenic	—
RS2522772830	Health Risk	Pathogenic	—
RS372968576	Health Risk	Pathogenic	Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS374155702	Health Risk	Pathogenic	Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS398122867	Health Risk	Pathogenic	Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS398122868	Health Risk	Pathogenic	Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS41286844	Health Risk	Pathogenic	Type II complement component 8 deficiency, Complement component 6 deficiency, C8B-related disorder
RS529668782	Health Risk	Pathogenic	—
RS752754320	Health Risk	Pathogenic	—
RS753002884	Health Risk	Pathogenic	Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS759074976	Health Risk	Pathogenic	Type II complement component 8 deficiency, Type II complement component 8 deficiency
RS760669928	Health Risk	Pathogenic	—
RS773716735	Health Risk	Pathogenic	—
RS780667562	Health Risk	Pathogenic	—
RS866880466	Health Risk	Pathogenic	—
RS1176902020	Health Risk	Pathogenic/Likely pathogenic	C8B-related disorder, C8B-related disorder
RS146187042	Health Risk	Pathogenic/Likely pathogenic	Type II complement component 8 deficiency, Complement component 6 deficiency, C8B-related disorder
RS779205550	Health Risk	Pathogenic/Likely pathogenic	Type II complement component 8 deficiency, Type II complement component 8 deficiency