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CSF2RA (colony stimulating factor 2 receptor subunit alpha)
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 nameGene Name - the full gene name approved by the HGNC.
Colony stimulating factor 2 receptor subunit alpha
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CSF2RA
SynonymsGene synonyms aliases
CD116, CDw116, CSF2R, CSF2RAX, CSF2RAY, CSF2RX, CSF2RY, GM-CSF-R-alpha, GMCSFR, GMCSFR-alpha, GMR, GMR-alpha, SMDP4, alphaGMR
ChromosomeChromosome number
X|Y
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
X;Y
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
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
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Transcription factor Regulation Reference
CEBPA Unknown 7565736
SPI1 Unknown 7565736
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
 
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
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Hereditary pulmonary alveolar proteinosis Hereditary pulmonary alveolar proteinosis rs35328240, rs121917834, rs754714105, rs775903641, rs1596842934, rs756855585
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 17522711, 20457675
Surfactant metabolism dysfunction, pulmonary Surfactant Metabolism Dysfunction, Pulmonary, 4 rs137852353, rs35328240, rs1553380888, rs1586422427, rs121917834, rs121917835, rs121918559, rs121917836, rs121918560, rs1554476282, rs1558572491, rs779795223, rs2091055139, rs1395037247, rs2091299213 23632888, 25425184, 18955570, 18955567
Unknown
Disease name Disease term dbSNP ID References
Alveolar proteinosis Pulmonary Alveolar Proteinosis 25425184, 23632888, 29484482
Congenital pulmonary alveolar proteinosis Pulmonary alveolar proteinosis, congenital 23632888, 18955570

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