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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1438
Gene name Gene Name - the full gene name approved by the HGNC.	Colony stimulating factor 2 receptor subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CSF2RA
Synonyms (NCBI Gene) Gene synonyms aliases	CD116, CDw116, CSF2R, CSF2RAX, CSF2RAY, CSF2RX, CSF2RY, GM-CSF-R-alpha, GMCSFR, GMCSFR-alpha, GMR, GMR-alpha, SMDP4, alphaGMR
Chromosome Chromosome number	X\|Y
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	X;Y
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Transcription factors

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Transcription factor	Regulation	Reference
CEBPA	Unknown	7565736
SPI1	Unknown	7565736

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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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Surfactant Metabolism Dysfunction, Pulmonary	surfactant metabolism dysfunction, pulmonary, 4	rs137852353, rs2091055139, rs1395037247, rs2091299213	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hereditary Pulmonary Alveolar Proteinosis	hereditary pulmonary alveolar proteinosis	N/A	N/A	GenCC

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)