1. Gene
  2. IL6ST - interleukin 6 cytokine family signal transducer Gene

IL6ST - interleukin 6 cytokine family signal transducer Gene

中文名称:白介素 6 细胞因子家族信号转导

种属: Homo sapiens

同用名: CD130; GP130; HIES4; IMD94; STWS2; CDW130; HIES4A; HIES4B; IL-6RB; sGP130

基因 ID: 3572 | 基因类型: protein coding

关于 IL6ST

Cytogenetic location: 5q11.2 Genomic coordinates (GRCh38): 5:55,935,095-55,994,963 (from NCBI)

This gene has 25 transcripts (splice variants), 133 orthologues, 23 paralogues and is associated with 77 phenotypes. Ubiquitous expression in placenta (RPKM 88.6), fat (RPKM 53.5) and 24 other tissues.

功能概要

该基因编码的蛋白质是许多细胞因子共有的信号转导,包括白细胞介素 6 (IL6) 、睫状神经营养因子 (CNTF) 、白血病抑制因子 (LIF) 和制瘤素 M (OSM) 。这种蛋白质作为细胞因子受体复合物的一部分发挥作用。这种蛋白质的激活取决于细胞因子与其受体的结合。 vIL6 是一种与 IL6 相关的蛋白质,由卡波西肉瘤相关疱疹病毒编码,可以绕过白细胞介素 6 受体 (IL6R) 并直接激活该蛋白质。小鼠基因敲除研究表明,该基因在调节肌细胞凋亡中起着关键作用。已经描述了选择性剪接的转录物变体。已在 17 号染色体上鉴定出一个相关的假基因。[RefSeq 提供,2014 年 5 月]

The protein encoded by this gene is a signal transducer shared by many cytokines, including interleukin 6 (IL6), ciliary neurotrophic factor (CNTF), Leukemia Inhibitory Factor (LIF), and oncostatin M (OSM). This protein functions as a part of the cytokine receptor complex. The activation of this protein is dependent upon the binding of cytokines to their receptors. vIL6, a protein related to IL6 and encoded by the Kaposi sarcoma-associated herpesvirus, can bypass the interleukin 6 receptor (IL6R) and directly activate this protein. Knockout studies in mice suggest that this gene plays a critical role in regulating myocyte Apoptosis. Alternatively spliced transcript variants have been described. A related pseudogene has been identified on chromosome 17. [provided by RefSeq, May 2014]

IL6ST 基因产物(8)

mRNA Protein Name
NM_001190981.2 NP_001177910.1 interleukin-6 receptor subunit beta isoform 3 precursor
NM_001364275.2 NP_001351204.1 interleukin-6 receptor subunit beta isoform 4 precursor
NM_001364276.2 NP_001351205.1 interleukin-6 receptor subunit beta isoform 5 precursor
NM_001364277.2 NP_001351206.1 interleukin-6 receptor subunit beta isoform 6
NM_001364278.2 NP_001351207.1 interleukin-6 receptor subunit beta isoform 7
NM_001364279.2 NP_001351208.1 interleukin-6 receptor subunit beta isoform 8
NM_002184.4 NP_002175.2 interleukin-6 receptor subunit beta isoform 1 precursor
NM_175767.3 NP_786943.1 interleukin-6 receptor subunit beta isoform 2 precursor

IL6ST 蛋白结构

Lep_receptor_Ig

Lep_receptor_Ig: Ig-like C2-type domain (25 - 114)

IL6Ra-bind

IL6Ra-bind: Interleukin-6 receptor alpha chain, binding (128 - 214)

fn3

fn3: Fibronectin type III domain (224 - 311)

fn3

fn3: Fibronectin type III domain (525 - 600)

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  • 918 a.a.
蛋白主名 其他名称

interleukin-6 receptor subunit beta

CD130 antigen

重组 IL6ST 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75792 gp130/IL6ST Protein, Human (HEK293) P40189-1/NP_002175.2 (E23-I618) ≥95%
HY-P75794 gp130/IL6ST Protein, Human (HEK293, Fc) P40189-1 (E23-I618) ≥95%
HY-P75795 gp130/IL6ST Protein, Human (HEK293, His-Fc) P40189-1 (E23-I618) ≥95%

关联疾病

疾病名称 别名
Hyper-Ige Recurrent Infection Syndrome 4b, Autosomal Recessive

Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive

HIES4B

HIES4

Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies

IMD94

Hyper-Ige Recurrent Infection Syndrome 4a, Autosomal Dominant

HIES4A

Stuve-Wiedemann Syndrome 2

STWS2

Stuve-Wiedemann Syndrome 1

Stuve-Wiedemann Syndrome

Sjs2

STWS

Stuve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Sws

Schwartz-Jampel Syndrome Type 2

Stuve-Wiedemann Dysplasia

Schwartz-Jampel Syndrome, Neonatal

Stuve-Wiedemann Syndrome/Schwartz-Jampel Type 2 Syndrome

Neonatal Schwartz-Jampel Syndrome

Stüve-Wiedemann Syndrome 1

STWS1

Schwartz-Jampel Syndrome, Type 2

Neonatal Schwartz-Jampel Syndrome Type 2

Schwartz-Jampel Syndrome Neonatal

Stüve-Wiedemann Syndrome

Schwartz-Jampel Type 2 Syndrome

Hyper Ige Recurrent Infection Syndrome 4
Kaposi Sarcoma

Kaposi'S Sarcoma

Kaposi Sarcoma, Susceptibility To

Kaposi'S Sarcoma Of Lung

Kaposi'S Sarcoma Of Palate

Kaposi'S Sarcoma Of Soft Tissue

Kaposi'S Sarcoma-Associated Herpesvirus

Multiple Idiopathic Pigmented Hemangiosarcoma

Multiple Idiopathic Pigmented Hemangiosarcoma, Susceptibility To

African Lymphadenopathic Kaposi'S Sarcoma

Anal Kaposi'S Sarcoma

Cardiac Kaposi'S Sarcoma

Central Nervous System Kaposi'S Sarcoma

Conjunctival Kaposi'S Sarcoma

Corneal Kaposi'S Sarcoma

Cutaneous Kaposi'S Sarcoma

Esophageal Kaposi'S Sarcoma

Gallbladder Kaposi'S Sarcoma

Gastric Kaposi'S Sarcoma

Intestinal Kaposi'S Sarcoma

Kaposi'S Sarcoma Of Anus

Kaposi'S Sarcoma Of Central Nervous System

Kaposi'S Sarcoma Of Conjunctiva

Kaposi'S Sarcoma Of Cornea

Kaposi'S Sarcoma Of Esophagus

Kaposi'S Sarcoma Of Gastrointestinal Sites

Kaposi'S Sarcoma Of Heart

Kaposi'S Sarcoma Of Lymph Nodes

Kaposi'S Sarcoma Of Penis

Kaposi'S Sarcoma Of Skin

Kaposi'S Sarcoma Of Soft Tissues

Kaposi'S Sarcoma Of The Cns

Kaposi'S Sarcoma Of The Gallbladder

Kaposi'S Sarcoma Of The Prostate

Kaposi'S Sarcoma, Lung

Kaposi'S Sarcoma, Skin

Lymph Node Kaposi'S Sarcoma

Lymphadenopathic Kaposi'S Sarcoma

Palate Kaposi'S Sarcoma

Penis Kaposi'S Sarcoma

Prostate Kaposi'S Sarcoma

Pulmonary Kaposi'S Sarcoma

Soft Tissue Kaposi'S Sarcoma

Hhv8

Human Herpesvirus 8

Kshv

Kaposi Sarcoma Herpesvirus

Mediterranean Kaposi Sarcoma

Non Aids Related Kaposi Sarcoma

Sarcoma, Kaposi

Sarcoma, Kaposi, Susceptibility To

Non-Aids-Related Kaposi Sarcoma

Angiolymphoid Hyperplasia

Angiofollicular Ganglionic Hyperplasia

Multi-Centric Castleman'S Disease

Rheumatoid Arthritis

RA

Arthritis, Rheumatoid

Rheumatoid Arthritis, Susceptibility To

Arthritis Or Polyarthritis, Rheumatic

Atrophic Arthritis

Rheumatism Arthritis

Rheumatoid Polyarthritis

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Plasmacytoma

Solitary Plasmacytoma

Solitary Myeloma

Myeloma - Solitary

Myeloma, Solitary

Plasmacytoma - Category

Solitary Osseous Plasmacytoma

Solitary Plasmacytoma Without Mention Of Remission

Localised Malignant Plasma Cell Tumour Nos

Plasmacytoma Nos

Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos

Castleman Disease

Angiofollicular Ganglionic Hyperplasia

Angiofollicular Lymph Hyperplasia

Giant Lymph Node Hyperplasia

Castleman'S Disease

Angiofollicular Lymph Node Hyperplasia

Lymphoid Hamartoma

Benign Giant Lymphoma

Angiolymphoid Hyperplasia

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Liver Benign Neoplasm

Epithelial Hepatic And Intrahepatic Bile Duct Neoplasm

Sarcoma

Connective And Soft Tissue Neoplasm

Tumor Of Soft Tissue And Skeleton

Sarcomas

Sarcoma - Category

Immunodeficiency 63 With Lymphoproliferation And Autoimmunity

IMD63

Il2rb Deficiency

Cd122 Deficiency

Immunodeficiency 63

Interleukin 2 Receptor, Beta, Deficiency Of

Deficiency Of Interleukin 2 Receptor Beta

Myeloma, Multiple

Multiple Myeloma

Plasma Cell Myeloma

Kahler Disease

Myelomatosis

Medullary Plasmacytoma

Multiple Myeloma, Resistance To

Myeloma

Plasma Cell Dyscrasia

Kahler'S Disease

Multiple Myeloma, Susceptibility To

Myeloma - Multiple

Kahler-Bozzolo Disease

Plasma Cell Myelomas

MM

Plasma Cell Neoplasm

Primary Systemic Amyloidosis

Primary Amyloidosis

Immunoglobulin Deposition Disease

Plasmacytic Myeloma

Multiple Myelomata

Multiple Myeloma Nos

Multiple Myeloma Without Mention Of Remission

Monostotic Plasma Cell Myeloma

Mm - [Multiple Myeloma]

Hepatocellular Adenoma

Adenoma Hepatocellular

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Scoliosis
Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Hyper Ige Syndrome

Hyper-Ige Syndrome

Hyper Immunoglobulin E Syndrome

Hies

Hyper-Ige Recurrent Infection Syndrome

Hyperimmunoglobulin E Syndrome

Hyper Ige

Job Syndrome

Hartnup Disease

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Maturity-Onset Diabetes Of The Young, Type 3

Maturity-Onset Diabetes Of The Young Type 3

MODY3

Mody, Type Iii

Mody Type 3

Mody, Type 3

Maturity-Onset Diabetes Of The Young 3

Mody-3

Diabetes Of The Young, Maturity-Onset, Type 3

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus IL6ST RGD RGD:2903
Macaca mulatta IL6ST VGNC VGNC:73734
Mus musculus IL6ST MGD MGI:96560
Canis familiaris IL6ST VGNC VGNC:41994
Bos taurus IL6ST VGNC VGNC:30168
Felis catus IL6ST VGNC VGNC:67783
Others IL6ST NCBI