2. Gene
  3. LIFR - LIF receptor subunit alpha Gene

LIFR - LIF receptor subunit alpha Gene

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

中文名称：LIF 受体亚基α

种属: Homo sapiens

同用名: SWS; SJS2; STWS; CD118; LIF-R

基因 ID: 3977 | 基因类型: protein coding

关于 LIFR

Cytogenetic location: 5p13.1 Genomic coordinates (GRCh38): 5:38,474,668-38,608,403 (from NCBI)

This gene has 9 transcripts (splice variants), 193 orthologues, 23 paralogues and is associated with 86 phenotypes. Ubiquitous expression in fat (RPKM 34.2), endometrium (RPKM 21.9) and 24 other tissues.

功能概要

该基因编码属于 I 型细胞因子受体家族的蛋白质。这种蛋白质与高亲和力转换器亚基 gp130 结合，形成受体复合物，介导白血病抑制因子的作用，白血病抑制因子是一种多功能细胞因子，参与成人和胚胎的细胞分化、增殖和存活。该基因的突变会导致 2 型 Schwartz-Jampel 综合征，这是一种属于弯曲骨发育不良的疾病。涉及该基因启动子的易位，t (5;8) (p13;q12) 与多形性腺瘤基因 1，与唾液腺多形性腺瘤有关，唾液腺多形性腺瘤是唾液腺的一种常见良性上皮肿瘤。已为该基因发现编码两种不同亚型的多个剪接变体。[RefSeq 提供，2018 年 6 月]

This gene encodes a protein that belongs to the type I cytokine receptor family. This protein combines with a high-affinity converter subunit, gp130, to form a receptor complex that mediates the action of the Leukemia Inhibitory Factor, a polyfunctional cytokine that is involved in cellular differentiation, proliferation and survival in the adult and the embryo. Mutations in this gene cause Schwartz-Jampel syndrome type 2, a disease belonging to the group of the bent-bone dysplasias. A translocation that involves the promoter of this gene, t(5;8)(p13;q12) with the pleiomorphic adenoma gene 1, is associated with salivary gland pleiomorphic adenoma, a common type of benign epithelial tumor of the salivary gland. Multiple splice variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2018]

LIFR 基因产物(4)

mRNA Protein Name
NM_001127671.2 NP_001121143.1 leukemia inhibitory factor receptor isoform a precursor
NM_001364297.2 NP_001351226.1 leukemia inhibitory factor receptor isoform a precursor
NM_001364298.2 NP_001351227.1 leukemia inhibitory factor receptor isoform b precursor
NM_002310.6 NP_002301.1 leukemia inhibitory factor receptor isoform a precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to ciliary neurotrophic factor receptor activity IDA
IDA: 通过直接分析推断
12643274 GOA
enables ciliary neurotrophic factor receptor binding IPI
IPI: 通过物理相互作用推断
12707266 GOA
enables growth factor binding IPI
IPI: 通过物理相互作用推断
8999038 GOA
contributes to leukemia inhibitory factor receptor activity IDA
IDA: 通过直接分析推断
8999038 GOA
enables leukemia inhibitory factor receptor activity IDA
IDA: 通过直接分析推断
7957045 GOA
contributes to oncostatin-M receptor activity IDA
IDA: 通过直接分析推断
8999038 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16051226 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ciliary neurotrophic factor-mediated signaling pathway IDA
IDA: 通过直接分析推断
12643274 GOA
acts upstream of or within cytokine-mediated signaling pathway IDA
IDA: 通过直接分析推断
7957045 GOA
involved in leukemia inhibitory factor signaling pathway IDA
IDA: 通过直接分析推断
8999038 GOA
involved in oncostatin-M-mediated signaling pathway IMP
IMP: 通过突变表型推断
8999038 GOA
acts upstream of or within positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
7957045 GOA
involved in positive regulation of cell population proliferation IDA
IDA: 通过直接分析推断
8999038 GOA
involved in response to cytokine IDA
IDA: 通过直接分析推断
8999038 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of receptor complex IDA
IDA: 通过直接分析推断
8999038 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

LIFR 蛋白结构

fn3

fn3: Fibronectin type III domain (436 - 514)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1097 a.a.
蛋白主名 其他名称

leukemia inhibitory factor receptor

CD118 antigen

重组 LIFR 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77058 LIFR Protein, Human (HEK293, Fc) P42702-1/NP_001121143.1 (M45-S833) ≥95%
HY-P77059 LIFR Protein, Human (HEK293, His) P42702-1/NP_001121143.1 (M45-S833) ≥95%
HY-P77060 LIFR Protein, Human (Biotinylated, HEK293, His) P42702-1/NP_001121143.1 (M45-S833) ≥95%
HY-P700418 LIFR Protein, Human (HEK293, hFc-Flag) P42702-1 (M45-S833) ≥95%

关联疾病

疾病名称 别名
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
Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1
Hemophagocytic Lymphohistiocytosis, Familial, 2

Familial Hemophagocytic Lymphohistiocytosis 2

FHL2

Hplh2

Hlh2

Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To

Lymphohistiocytosis, Hemophagocytic, Familial, Type 2
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos
Adenoma

Acinar Cell Adenoma

Adenomas

Acinic Cell Adenoma
Prolactinoma

Prolactin-Producing Pituitary Gland Adenoma

Prolactin-Secreting Pituitary Adenoma

Forbes-Albright Syndrome

Lactotroph Adenoma

Prl-Secreting Pituitary Adenoma

Prloma

Pituitary Lactotrophic Adenoma

Familial Prolactinoma

Pituitary Adenoma, Prolactin-Secreting

Prolactinoma Of Pituitary Gland

PSPA
Cold-Induced Sweating Syndrome

Crisponi Syndrome

Sohar-Crisponi Syndrome

Ciss

Cntf Receptor-Related Disorders

Muscle Contractions, Tetanoform, With Characteristic Face, Camptodactyly, Hyperthermia, And Sudden Death

Sweating Syndrome, Cold-Induced
Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1

Digitotalar Dysmorphism

DA1A

Da1

Amcd1

Arthrogryposis, Distal, Type 2b4

Distal Arthrogryposis Type 1a

Arthrogryposis, Distal, Type 1

Arthrogryposis Multiplex Congenita Distal Type 1

Arthrogryposis Multiplex Congenita, Distal Type 1

Arthrogryposis Multiplex Congenita, Distal, Type I

Distal Arthrogryposis Type 1b

Arthrogryposis, Distal, 1a

Amc

Arthrogryposis Multiplex Congenita

Arthrogryposis, Distal, 2b4

DA2B4

Arthrogryposis Multiplex Congenita, Distal, Type 1

Arthrogryposis
Crisponi/Cold-Induced Sweating Syndrome 2

Cold-Induced Sweating Syndrome 2

CISS2

Sweating Syndrome, Cold-Induced, Type 2
Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1
Infertility
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
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
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-120142 EC359 Inducer 99.09% 否
HY-169192 BAR-2227 Agonist / 否
HY-RS07641 LIFR Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus LIFR VGNC VGNC:68045
Bos taurus LIFR VGNC VGNC:30881
Macaca mulatta LIFR VGNC VGNC:74264
Rattus norvegicus LIFR RGD RGD:621431
Canis familiaris LIFR VGNC VGNC:42672
Mus musculus LIFR MGD MGI:96788
Others LIFR NCBI
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