CSF2RA - colony stimulating factor 2 receptor subunit alpha Gene

Also Known as GMR; CD116; CSF2R; SMDP4; CDw116; CSF2RX; CSF2RY; GMCSFR; CSF2RAX; CSF2RAY; alphaGMR; GMR-alpha; GMCSFR-alpha; GM-CSF-R-alpha

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1438

About CSF2RA

Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:1,268,814-1,325,218 (from NCBI)

This gene has 18 transcripts (splice variants), 112 orthologues, 23 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 20.8), appendix (RPKM 7.7) and 14 other tissues.

Summary

The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and Others being soluble. [provided by RefSeq, Jul 2008]

CSF2RA Products (25)

mRNA	Protein	Name
NM_001161529.2	NP_001155001.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor
NM_001161530.2	NP_001155002.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform f precursor
NM_001161531.2	NP_001155003.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform g precursor
NM_001161532.2	NP_001155004.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform h
NM_001379153.1	NP_001366082.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform f precursor
NM_001379154.1	NP_001366083.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform f precursor
NM_001379155.1	NP_001366084.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform g precursor
NM_001379156.1	NP_001366085.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor
NM_001379158.1	NP_001366087.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor
NM_001379159.1	NP_001366088.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform i precursor
NM_001379160.1	NP_001366089.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform j precursor
NM_001379161.1	NP_001366090.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform k precursor
NM_001379162.1	NP_001366091.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform l precursor
NM_001379163.1	NP_001366092.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform l precursor
NM_001379164.1	NP_001366093.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform m precursor
NM_001379165.1	NP_001366094.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform m precursor
NM_001379166.1	NP_001366095.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform n precursor
NM_001379167.1	NP_001366096.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor
NM_001379168.1	NP_001366097.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor
NM_001379169.1	NP_001366098.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor
NM_006140.6	NP_006131.2	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor
NM_172245.4	NP_758448.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform a precursor
NM_172246.4	NP_758449.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform b precursor
NM_172247.3	NP_758450.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform c precursor
NM_172249.4	NP_758452.1	granulocyte-macrophage colony-stimulating factor receptor subunit alpha isoform e precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell surface receptor signaling pathway via JAK-STAT	IDA IDA: Inferred from direct assay	18692472	GOA
involved in granulocyte-macrophage colony-stimulating factor signaling pathway	IDA IDA: Inferred from direct assay	18692472	GOA
involved in positive regulation of leukocyte proliferation	IDA IDA: Inferred from direct assay	18692472	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of granulocyte macrophage colony-stimulating factor receptor complex	IDA IDA: Inferred from direct assay	27396825	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

CSF2RA Protein Structure

IL6Ra-bind

0
100
200
300
400 a.a.

Protein Preferred Names	Protein Names
granulocyte-macrophage colony-stimulating factor receptor subunit alpha	CD116 antigen

CSF2RA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CSF2RA	P15509	FATE1	Homo sapiens	Q969F0	Validated Y2H	25416956
Intra	CSF2RA	P15509	FATE1	Homo sapiens	Q969F0	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CSF2RA Proteins

Cat. No.	Product Name	Accession	Purity
HY-P7783	GM-CSF R alpha Protein, Human (HEK293, His)	P15509 (E23-G320)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P73083	GM-CSF R alpha Protein, Human (HEK293, Fc)	P15509 (E23-G320)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P78110	GM-CSF R alpha Protein, Human (Biotinylated, HEK293, His-Avi)	P15509 (E23-G320)	≥ 95%, as determined by Bis-Tris PAGE.

Related Diseases

Diseases	Alias
Surfactant Metabolism Dysfunction, Pulmonary, 4	SMDP4 Pap Due To Csf2ra Deficiency Csf2ra Deficiency Pulmonary Alveolar Proteinosis, Congenital, 4 Pulmonary Surfactant Metabolism Dysfunction 4 Congenital Pulmonary Alveolar Proteinosis 4 Pap Surfactant Metabolism Dysfunction, Pulmonary, Type 4
Hereditary Pulmonary Alveolar Proteinosis	Congenital Pap Congenital Pulmonary Alveolar Proteinosis Pulmonary Alveolar Proteinosis, Congenital
Pulmonary Alveolar Proteinosis
Amoxicillin Allergy
Brain Stem Astrocytic Neoplasm	Brainstem Astrocytoma Astrocytoma Of Brain Stem
Mucocele Of Salivary Gland	Ranula Salivary Cyst Salivary Gland Mucocele Mucous Retention Cyst Of Salivary Gland Retention Cyst Of Salivary Gland Sialocele Cyst Of Salivary Gland Or Duct Extravasation Cyst Of Salivary Gland
Amyloidosis, Familial Visceral	Ostertag Type Amyloidosis German Type Amyloidosis Familial Renal Amyloidosis Amyloidosis Viii Amyloidosis, 3 Or More Types Familial Visceral Amyloidosis Familial Amyloid Nephropathy Hereditary Amyloid Nephropathy Amyloidosis, Familial Renal Amyloidosis, Systemic Nonneuropathic Amyloidosis Familial Visceral Amyloidosis 8 Amyloidosis, Ostertag Type Hereditary Amyloidosis With Primary Renal Involvement Hereditary Renal Amyloidosis Renal Amyloidosis Amyloidosis, Renal Systemic Nonneuropathic Amyloidosis Amyloidosis Familial Renal Amyloidosis Systemic Nonneuropathic Hereditary Amyloidosis With Primary Renal Involement AMYL8 Systemic Non-Neuropathic Amyloidosis Amyloid Nephropathy
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Leukemia, Chronic Myeloid	Chronic Myeloid Leukemia Chronic Myelogenous Leukemia CML Chronic Granulocytic Leukemia Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib Chronic Myeloid Leukaemia Chronic Granulocytic Leukaemia Chronic Myelogenous Leukaemia Myeloid Leukemia, Chronic Leukemia, Chronic Myelogenous Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic Cml - Chronic Myelogenous Leukemia Cgl Chronic Myelocytic Leukemia Leukemia, Chronic Myeloid, Atypical ACML Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative Myeloid Leukemia Chronic Leukemia, Myeloid, Chronic Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative Cml- [Chronic Myeloid Leukaemia] Cgl - [Chronic Granulocytic Leukaemia] Chronic Myelocytic Leukaemia
Juvenile Myelomonocytic Leukemia	Leukemia, Juvenile Myelomonocytic JMML Leukemia, Juvenile Myelomonocytic, Somatic Juvenile Chronic Myelomonocytic Leukemia Juvenile Chronic Myelogenous Leukemia Leukemia, Myelomonocytic, Juvenile Juvenile Myelomonocytic Leukaemia Without Mention Of Remission
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Leukemia, Chronic Lymphocytic	Chronic Lymphocytic Leukemia B-Cell Chronic Lymphocytic Leukemia CLL B-Cell Chronic Lymphoid Leukemia Chronic Lymphatic Leukemia Chronic Lymphocytic Leukaemia Lymphoplasmacytic Leukemia Small Lymphocytic Lymphoma Leukemia, Chronic Lymphatic B-Cell Chronic Lymphocytic Leukaemia Chronic Lymphatic Leukaemia Lymphoplasmacytic Leukaemia B Cell Chronic Lymphocytic Leukemia Chronic B-Cell Lymphocytic Leukemia Leukemia, Lymphocytic, Chronic B-Cll Chronic Lymphoid Leukemia Leukemia Lymphocytic Chronic Lymphoma Small Lymphocytic Leukemia, Lymphocytic, Chronic, B-Cell
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03232	CSF2RA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174733	Human CSF2RA mRNA		/	Unkown
HY-RS18089	Csf2ra Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24563	Csf2ra Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CSF2RA	MGD	MGI:1339754
Bos taurus	CSF2RA	VGNC	VGNC:55042
Canis familiaris	CSF2RA	VGNC	VGNC:39655
Rattus norvegicus	CSF2RA	RGD	RGD:1594330