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C8B - complement C8 beta chain Gene

Also Known as C82

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 732

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	References	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

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 Set	/	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
Others	C8B	NCBI