C8B - complement C8 beta chain Gene

Homo sapiens

Also known as C82

Gene ID: 732 | Gene type: protein coding

About C8B

Cytogenetic location: 1p32.2 Genomic coordinates (GRCh38): 1:56,929,207-56,966,015 (from NCBI)

This gene has 10 transcripts (splice variants), 187 orthologues, 39 paralogues and is associated with 2 phenotypes. Restricted expression toward liver (RPKM 158.8).

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]

C8B Products(3)

mRNA	Protein	Name
NM_000066.4	NP_000057.3	complement component C8 beta chain isoform 1 preproprotein
NM_001278543.2	NP_001265472.2	complement component C8 beta chain isoform 2
NM_001278544.2	NP_001265473.2	complement component C8 beta chain isoform 3

Gene Ontology

Cellular Component

Cellular Component GO Annotation	Evidence	Reference	Source
part of membrane attack complex	IDA IDA: Inferred from direct assay	22832194	GOA
part of membrane attack complex	IPI IPI: Inferred from physical interaction	30552328	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

C8B Protein Structure

Ldl_recept_a

MACPF

0
100
200
300
400
500
591 a.a.

Protein Preferred Names

Protein Names

complement component C8 beta chain

complement component 8 subunit beta

Related Diseases

Diseases

Alias

Complement Component 8 Deficiency, Type Ii

C8 Beta Deficiency	Type Ii Complement Component 8 Deficiency
C8D2	C8 Deficiency Type Ii
Complement Component 8 Deficiency Type Ii	C8 Deficiency, Type Ii
Complement Component 8b Deficiency	C8b Deficiency
Complement Component 8 Deficiency Type 2	Human Complement C8-Beta Deficiency
Complement Component 8 Deficiency, 2	Complement C8b Deficiency
Complement Component 8 Deficiency, Type 2

Complement Component 6 Deficiency

C6 Deficiency	C6D
C6 Deficiency Subtotal	Complement Component 6 Deficiency Subtotal
C6 Deficiency, Subtotal

Immunodeficiency Due To A Late Component Of Complement Deficiency

Immunodeficiency Due To C5 To C9 Component Complement Deficiency

Terminal Complement Pathway Deficiency

Complement Component 8 Deficiency

C8 Deficiency

Ileum Cancer

Ileal Neoplasm	Malignant Neoplasm Of Ileum
Ileal Cancer	Ileal Neoplasms

Complement Component 2 Deficiency

C2D	C2 Deficiency
Complement 2 Deficiency	Complement Component-2

Retinitis Pigmentosa 90

RP90	Retinitis Pigmentosa, Type 90

Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness

Bsnd	Sensorineural Deafness With Mild Renal Dysfunction
Bartter Disease Type 4a	BARTS4A
Bartter Syndrome, Type 4a	Bartter Syndrome Type 4
Bartter Syndrome, Neonatal, With Sensorineural Deafness	Bartter Syndrome With Sensorineural Deafness
Bartter Syndrome Type 4a	Neonatal Bartter Syndrome With Sensorineural Deafness
Bartter Syndrome Type Iv	Bartter Syndrome With Sensorineural Hearing Loss
Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness	Hyperprostanglandin E Syndrome 4
Hypokalemic Alkalosis With Hypercalciuria Antenatal 4	Infantile Bartter Syndrome With Sensorineural Deafness

Griscelli Syndrome, Type 3

Griscelli Syndrome Type 3	GS3
Griscelli-Prunieras Syndrome Type 3	Hypomelanosis With No Immunologic Or Neurologic Manifestations
Griscelli Syndrome 3

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Atypical Hemolytic Uremic Syndrome	Hemolytic Uremic Syndrome, Atypical, Susceptibility To
Ahus	AHUS1
Hemolytic-Uremic Syndrome	Ahus 1
Ahus, Susceptibility To, 1	Hemolytic Uremic Syndrome, Atypical
Non-Shiga-Like Toxin-Associated Hus	Non-Stx-Hus
Nonenteropathic Hus	Atypical Hus
Shiga Toxin-Associated Hemolytic Uremic Syndrome	D+ Hus
Ehec-Hus	Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli
Hemolytic Uremic Syndrome With Diarrhea	Stec-Hus
Shiga-Like Toxin-Associated Hus	Stx-Hus
Typical Hus	Typical Hemolytic Uremic Syndrome
Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies	Atypical Hus With Anti-Factor H Antibodies
Ahus With Anti-Factor H Antibodies	Ahus With Neutralizing Autoantibodies Against Factor H
Hemolytic Uremic Syndrome Atypical 1	Atypical Hemolytic Uremic Syndrome With H Factor Anomaly
D Hus	Hemolytic-Uremic Syndrome Without Diarrhea
Hemolytic-Uremic Syndrome, Atypical, Type 1	Hemolytic Uremic Syndrome, Typical

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01756	C8B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	C8B	VGNC	VGNC:38601
Mus musculus	C8B	MGD	MGI:88236
Felis catus	C8B	VGNC	VGNC:60236
Rattus norvegicus	C8B	RGD	RGD:2239
Macaca mulatta	C8B	VGNC	VGNC:70480
Bos taurus	C8B	VGNC	VGNC:26645

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