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  2. LIFR - LIF receptor subunit alpha Gene

LIFR - LIF receptor subunit alpha Gene

Homo sapiens

Also known as SWS; SJS2; STWS; CD118; LIF-R

Gene ID: 3977 | Gene type: protein coding

About 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.

Summary

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 Products(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

LIFR Protein Structure

fn3

fn3: Fibronectin type III domain (436 - 514)

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  • 1097 a.a.
Protein Preferred Names Protein Names

leukemia inhibitory factor receptor

CD118 antigen

Recombinant LIFR Proteins

Cat. No. Product Name Accession Purity
HY-P77058 LIFR Protein, Human (HEK293, Fc) P42702 (M1-S833) ≥95%
HY-P77059 LIFR Protein, Human (HEK293, His) P42702 (M1-S833) ≥95%
HY-P77060 LIFR Protein, Human (Biotinylated, HEK293, His) P42702 (M1-S833) ≥95%
HY-P700418 LIFR Protein, Human (HEK293, hFc-Flag) P42702 (Q45-S833) ≥95%

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source 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