CSF2RA (colony stimulating factor 2 receptor subunit alpha)

Gene

• Entrez ID: 1438
• Gene name: Colony stimulating factor 2 receptor subunit alpha
• Gene symbol: CSF2RA
• Synonyms: CD116, CDw116, CSF2R, CSF2RAX, CSF2RAY, CSF2RX, CSF2RY, GM-CSF-R-alpha, GMCSFR, GMCSFR-alpha, GMR, GMR-alpha, SMDP4, alphaGMR
• 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 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]

SNPs

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

Transcription factors

Transcription factor	Regulation	Reference
CEBPA	Unknown	7565736
SPI1	Unknown	7565736

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0004896	Function	Cytokine receptor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	TAS	2555171
GO:0009897	Component	External side of plasma membrane	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019955	Function	Cytokine binding	IBA	21873635
GO:0038023	Function	Signaling receptor activity	TAS	1358805
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0044267	Process	Cellular protein metabolic process	TAS

Other IDs

• MIM: 306250
• e!Ensembl: 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

Pathways

KEGG:

Cytokine-cytokine receptor interaction
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer

Reactome:

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

Associated diseases

Disease name	Disease term	References
	Pulmonary Alveolar Proteinosis	25425184, 23632888, 29484482
	Pulmonary alveolar proteinosis, congenital	23632888, 18955570
	Hereditary pulmonary alveolar proteinosis
	Schizophrenia	17522711, 20457675
	Surfactant Metabolism Dysfunction, Pulmonary, 4	23632888, 25425184, 18955570, 18955567