Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1438
Gene name	Colony stimulating factor 2 receptor subunit alpha
Gene symbol	CSF2RA
Synonyms (NCBI Gene)	CD116CDw116CSF2RCSF2RAXCSF2RAYCSF2RXCSF2RYGM-CSF-R-alphaGMCSFRGMCSFR-alphaGMRGMR-alphaSMDP4alphaGMR
Chromosome	X\|Y
Chromosome location	X;Y
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 o

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852353	G>A,C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs140664183	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant

Show/Hide all (91)

miRTarBase ID	miRNA	Experiments
MIRT911711	hsa-miR-3620	CLIP-seq
MIRT911712	hsa-miR-526b	CLIP-seq
MIRT911713	hsa-miR-578	CLIP-seq
MIRT911714	hsa-miR-106a	CLIP-seq
MIRT911715	hsa-miR-106b	CLIP-seq
MIRT911716	hsa-miR-150	CLIP-seq
MIRT911717	hsa-miR-17	CLIP-seq
MIRT911718	hsa-miR-1976	CLIP-seq
MIRT911719	hsa-miR-20a	CLIP-seq
MIRT911720	hsa-miR-20b	CLIP-seq
MIRT911721	hsa-miR-302a	CLIP-seq
MIRT911722	hsa-miR-302b	CLIP-seq
MIRT911723	hsa-miR-302c	CLIP-seq
MIRT911724	hsa-miR-302d	CLIP-seq
MIRT911725	hsa-miR-302e	CLIP-seq
MIRT911726	hsa-miR-372	CLIP-seq
MIRT911727	hsa-miR-373	CLIP-seq
MIRT911728	hsa-miR-4279	CLIP-seq
MIRT911729	hsa-miR-4312	CLIP-seq
MIRT911730	hsa-miR-4438	CLIP-seq
MIRT911731	hsa-miR-4454	CLIP-seq
MIRT911732	hsa-miR-4722-3p	CLIP-seq
MIRT911733	hsa-miR-4731-5p	CLIP-seq
MIRT911734	hsa-miR-4757-5p	CLIP-seq
MIRT911735	hsa-miR-4763-5p	CLIP-seq
MIRT911736	hsa-miR-4795-3p	CLIP-seq
MIRT911737	hsa-miR-498	CLIP-seq
MIRT911738	hsa-miR-5095	CLIP-seq
MIRT911739	hsa-miR-512-3p	CLIP-seq
MIRT911740	hsa-miR-519d	CLIP-seq
MIRT911741	hsa-miR-520a-3p	CLIP-seq
MIRT911742	hsa-miR-520b	CLIP-seq
MIRT911743	hsa-miR-520c-3p	CLIP-seq
MIRT911744	hsa-miR-520d-3p	CLIP-seq
MIRT911745	hsa-miR-520e	CLIP-seq
MIRT911746	hsa-miR-520g	CLIP-seq
MIRT911747	hsa-miR-520h	CLIP-seq
MIRT911748	hsa-miR-562	CLIP-seq
MIRT911749	hsa-miR-93	CLIP-seq
MIRT1970292	hsa-miR-24	CLIP-seq
MIRT1970293	hsa-miR-4284	CLIP-seq
MIRT1970294	hsa-miR-4466	CLIP-seq
MIRT1970295	hsa-miR-675	CLIP-seq
MIRT911714	hsa-miR-106a	CLIP-seq
MIRT911715	hsa-miR-106b	CLIP-seq
MIRT911716	hsa-miR-150	CLIP-seq
MIRT911717	hsa-miR-17	CLIP-seq
MIRT911718	hsa-miR-1976	CLIP-seq
MIRT911719	hsa-miR-20a	CLIP-seq
MIRT911720	hsa-miR-20b	CLIP-seq
MIRT911721	hsa-miR-302a	CLIP-seq
MIRT911722	hsa-miR-302b	CLIP-seq
MIRT911723	hsa-miR-302c	CLIP-seq
MIRT911724	hsa-miR-302d	CLIP-seq
MIRT911725	hsa-miR-302e	CLIP-seq
MIRT911726	hsa-miR-372	CLIP-seq
MIRT911727	hsa-miR-373	CLIP-seq
MIRT911728	hsa-miR-4279	CLIP-seq
MIRT911729	hsa-miR-4312	CLIP-seq
MIRT911732	hsa-miR-4722-3p	CLIP-seq
MIRT911734	hsa-miR-4757-5p	CLIP-seq
MIRT911735	hsa-miR-4763-5p	CLIP-seq
MIRT911737	hsa-miR-498	CLIP-seq
MIRT911739	hsa-miR-512-3p	CLIP-seq
MIRT911740	hsa-miR-519d	CLIP-seq
MIRT911741	hsa-miR-520a-3p	CLIP-seq
MIRT911742	hsa-miR-520b	CLIP-seq
MIRT911743	hsa-miR-520c-3p	CLIP-seq
MIRT911744	hsa-miR-520d-3p	CLIP-seq
MIRT911745	hsa-miR-520e	CLIP-seq
MIRT911746	hsa-miR-520g	CLIP-seq
MIRT911747	hsa-miR-520h	CLIP-seq
MIRT911748	hsa-miR-562	CLIP-seq
MIRT911749	hsa-miR-93	CLIP-seq
MIRT911714	hsa-miR-106a	CLIP-seq
MIRT911715	hsa-miR-106b	CLIP-seq
MIRT2509454	hsa-miR-125a-3p	CLIP-seq
MIRT911716	hsa-miR-150	CLIP-seq
MIRT911717	hsa-miR-17	CLIP-seq
MIRT911719	hsa-miR-20a	CLIP-seq
MIRT911720	hsa-miR-20b	CLIP-seq
MIRT2509455	hsa-miR-3934	CLIP-seq
MIRT911729	hsa-miR-4312	CLIP-seq
MIRT911731	hsa-miR-4454	CLIP-seq
MIRT911734	hsa-miR-4757-5p	CLIP-seq
MIRT911735	hsa-miR-4763-5p	CLIP-seq
MIRT911740	hsa-miR-519d	CLIP-seq
MIRT911746	hsa-miR-520g	CLIP-seq
MIRT911747	hsa-miR-520h	CLIP-seq
MIRT2509456	hsa-miR-764	CLIP-seq
MIRT911749	hsa-miR-93	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
CEBPA	Unknown	7565736
SPI1	Unknown	7565736

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004903	Function	Growth hormone receptor activity	IBA
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005576	Component	Extracellular region	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	1702217
GO:0005886	Component	Plasma membrane	TAS	2555171
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IDA	18692472
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0017046	Function	Peptide hormone binding	IBA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019955	Function	Cytokine binding	IBA
GO:0030526	Component	Granulocyte macrophage colony-stimulating factor receptor complex	IDA	27396825
GO:0038023	Function	Signaling receptor activity	TAS	1358805
GO:0038157	Process	Granulocyte-macrophage colony-stimulating factor signaling pathway	IDA	18692472
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA
GO:0060396	Process	Growth hormone receptor signaling pathway	IBA
GO:0070195	Component	Growth hormone receptor complex	IBA
GO:0070665	Process	Positive regulation of leukocyte proliferation	IDA	18692472

MIM	HGNC	e!Ensembl
306250	N/A	HGNC

P15509

Protein name

Granulocyte-macrophage colony-stimulating factor receptor subunit alpha (GM-CSF-R-alpha) (GMCSFR-alpha) (GMR-alpha) (CDw116) (CD antigen CD116)

Protein function

Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.

PDB

4NKQ , 4RS1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18611	IL3Ra_N	35 → 112	IL-3 receptor alpha chain N-terminal domain	Domain
PF09240	IL6Ra-bind	123 → 215	Interleukin-6 receptor alpha chain, binding	Domain

Sequence

MLLLVTSLLLCELPHPAFLLIPEKSDLRTVAPASSLNVRFDSRTMNLSWDCQENTTFSKC
FLTDKKNRVVEPRLSNNECSCTFREICLHEGVTFEVHVNTSQRGFQQKLLYPNSGREGTA
AQNFSCFIYNADLMNCTWARGPTAPRDVQYFLYIRNSKRRREIRCPYYIQDSGTHVGCHL
DNLSGLTSRNYFLVNGTSREIGIQFFDSLLDTKKIERFNPPSNVTVRCNTTHCLVRWKQP
RTYQKLSYLDFQYQLDVHRKNTQPGTENLLINVSGDLENRYNFPSSEPRAKHSVKIRAAD
VRILNWSSWSEAIEFGSDDGNLGSVYIYVLLIVGTLVCGIVLGFLFKRFLRIQRLFPPVP
QIKDKLNDNHEVEDEIIWEEFTPEEGKGYREEVLTVKEIT

Sequence length

400

Interactions

View interactions

	KEGG		Reactome
	Cytokine-cytokine receptor interaction JAK-STAT signaling pathway Hematopoietic cell lineage Pathways in cancer		Interleukin-3, Interleukin-5 and GM-CSF signaling RAF/MAP kinase cascade Surfactant metabolism Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5) Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4) Interleukin receptor SHC signaling

380

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CSF2RA-related disorder	Likely pathogenic; Pathogenic	rs2148504379, rs149151916	RCV004752118 RCV003394301
Surfactant metabolism dysfunction, pulmonary, 4	Pathogenic; Likely pathogenic	rs756203389, rs2148312047, rs2148417003, rs2148504379, rs149151916, rs2092302661, rs2091060104, rs753455319, rs1196937077, rs142796603, rs2522384987, rs137852353, rs750023118, rs2521947117, rs2522387231 View all (5 more)	RCV001388457 RCV001382275 RCV001388704 RCV001970797 RCV001934649 RCV001982285 RCV002035251 RCV002249845 RCV002249846 RCV002611923 RCV002685690 RCV002731000 RCV002923619 RCV003009901 RCV000011068 RCV003621841 RCV003622520 RCV003622684 RCV001041175 RCV001062354 RCV001050755
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2148504379	RCV005925429

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs73618035, rs149059494	RCV005921776 RCV005896869
Cholangiocarcinoma	Benign	rs28565146	RCV005923596
Clear cell carcinoma of kidney	Benign; Likely benign	rs377345813	RCV005869608
Colorectal cancer	Uncertain significance	rs757087323	RCV005935045
Hepatocellular carcinoma	Benign; Likely benign	rs28414810, rs149059494	RCV005921857 RCV005896870
Lung cancer	Benign; Likely benign	rs149059494	RCV005896872
Malignant lymphoma, large B-cell, diffuse	Benign	rs73618035, rs28565146	RCV005921777 RCV005923595
Melanoma	Uncertain significance	rs777638014	RCV005923919
Nonpapillary renal cell carcinoma	Uncertain significance	rs2522471599	RCV005926780
Thymoma	Benign; Likely benign	rs149059494	RCV005896871
Uterine carcinosarcoma	Benign	rs73618035	RCV005921778
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs149059494	RCV005896873
Uveal melanoma	Benign	rs28565146	RCV005923594

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	31635541
Arthritis Rheumatoid	Inhibit	21557945
Asthma	Stimulate	19213775
Breast Neoplasms	Associate	31635541
Carcinoma Renal Cell	Inhibit	9845545
Cerebral Infarction	Associate	22365286
Cholangiocarcinoma	Associate	36883059
Cicatrix	Associate	11231312
Colitis Ulcerative	Inhibit	21557945
Colorectal Neoplasms	Associate	29516317
Congenital contractural arachnodactyly	Associate	36883059
Crohn Disease	Inhibit	21557945
Drug Related Side Effects and Adverse Reactions	Associate	9326195
Dyspnea	Associate	20622029
Glioma	Associate	34404444
Growth Disorders	Associate	8950669
Inflammation	Associate	36171010
Inflammatory Bowel Diseases	Inhibit	21557945
Irritable Bowel Syndrome	Inhibit	21557945
Kidney Failure Chronic	Stimulate	16480924
Klinefelter Syndrome	Associate	32959501
Leukemia	Associate	21056082, 8695795
Leukemia Lymphocytic Chronic B Cell	Associate	24836891
Leukemia Myeloid Acute	Associate	21056082
Leukemia Myelomonocytic Chronic	Associate	39298477
Leukemia Myelomonocytic Juvenile	Associate	26983639
Leukocytosis	Stimulate	26375984
Lung Diseases Interstitial	Associate	25425184
Lung Neoplasms	Associate	11129324
Lymphatic Metastasis	Associate	31635541
Measles	Associate	11854931
Melanoma	Associate	7849318
Multiple Myeloma	Associate	7530506, 9734660
Multiple Sclerosis	Stimulate	29290406
Myelodysplastic Syndromes	Associate	11122148, 15668954
Neoplasms	Associate	34404444
Philadelphia Chromosome	Stimulate	29338593
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	29338593
Pulmonary Alveolar Proteinosis	Associate	20622029, 24279752, 25425184, 28212655, 28233860, 28464852
Pulmonary Alveolar Proteinosis Acquired	Associate	20622029
Pulmonary alveolar proteinosis congenital	Associate	28464852
Severe Acute Respiratory Syndrome	Stimulate	31438916
Surfactant Metabolism Dysfunction Pulmonary 1	Associate	23206404, 24279752, 28212655, 28233860, 29123113
Turner Syndrome	Associate	32210915, 36733527, 8950669
Uterine Cervical Neoplasms	Associate	26257474

CSF2RA (colony stimulating factor 2 receptor subunit alpha)