2. Gene
  3. C8B - complement C8 beta chain Gene

C8B - complement C8 beta chain Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：补充 C8 β 链

种属: Homo sapiens

同用名: C82

基因 ID: 732 | 基因类型: protein coding

关于 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).

功能概要

该基因编码补体成分 8 (C8) 蛋白的三个亚基之一。 C8 由等摩尔量的 alpha、beta 和 gamma 亚基组成，它们由三个独立的基因编码。 C8 是膜攻击复合物的一种成分，它介导细胞裂解，并启动复合物的膜穿透。该蛋白介导 C8 与 C5b-7 膜攻击复合物前体的相互作用。在人类中，这种蛋白质的缺乏与脑膜炎球菌感染的风险增加有关。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 6 月]

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 基因产物(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
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of membrane attack complex IDA
IDA: 通过直接分析推断
22832194 GOA
part of membrane attack complex IPI
IPI: 通过物理相互作用推断
30552328 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

C8B 蛋白结构

Ldl_recept_a

Ldl_recept_a: Low-density lipoprotein receptor domain class A (123 - 155)

MACPF

MACPF: MAC/Perforin domain (283 - 495)

  • 0
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  • 500
  • 591 a.a.
蛋白主名 其他名称

complement component C8 beta chain

complement component 8 subunit beta

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS01756 C8B Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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