ENSG00000198223


Homo sapiens

Features
Gene ID: ENSG00000198223
  
Biological name :CSF2RA
  
Synonyms : colony stimulating factor 2 receptor alpha subunit / CSF2RA / P15509
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: p22.33
Gene start: 1268800
Gene end: 1310381
  
Corresponding Affymetrix probe sets: 207085_x_at (Human Genome U133 Plus 2.0 Array)   210340_s_at (Human Genome U133 Plus 2.0 Array)   211286_x_at (Human Genome U133 Plus 2.0 Array)   211287_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000476684
Ensembl peptide - ENSP00000416437
Ensembl peptide - ENSP00000436825
Ensembl peptide - ENSP00000440491
Ensembl peptide - ENSP00000347606
Ensembl peptide - ENSP00000348058
Ensembl peptide - ENSP00000370911
Ensembl peptide - ENSP00000370920
Ensembl peptide - ENSP00000370935
Ensembl peptide - ENSP00000370940
Ensembl peptide - ENSP00000394227
Ensembl peptide - ENSP00000410667
NCBI entrez gene - 1438     See in Manteia.
OMIM - 306250
OMIM - 425000
RefSeq - XM_017029288
RefSeq - NM_172246
RefSeq - NM_172247
RefSeq - NM_172249
RefSeq - XM_011546165
RefSeq - XM_011546166
RefSeq - XM_011546167
RefSeq - XM_011546168
RefSeq - XM_011546169
RefSeq - XM_011546170
RefSeq - XM_011546173
RefSeq - XM_011546174
RefSeq - XM_011546175
RefSeq - XM_017029287
RefSeq - NM_001161529
RefSeq - NM_001161530
RefSeq - NM_001161531
RefSeq - NM_001161532
RefSeq - NM_006140
RefSeq - NM_172245
RefSeq Peptide - NP_001155003
RefSeq Peptide - NP_001155004
RefSeq Peptide - NP_006131
RefSeq Peptide - NP_758448
RefSeq Peptide - NP_758449
RefSeq Peptide - NP_758450
RefSeq Peptide - NP_758452
RefSeq Peptide - NP_001155001
RefSeq Peptide - NP_001155002
swissprot - F2Z3C9
swissprot - J3JS74
swissprot - P15509
swissprot - V9GYE9
Ensembl - ENSG00000198223
  
Related genetic diseases (OMIM): 300770 - Surfactant metabolism dysfunction, pulmonary, 4, 300770
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ENSGALG00000046156Gallus gallus
 ENSGALG00000019147Gallus gallus
 CSF2RAENSGALG00000016693Gallus gallus
 Csf2raENSMUSG00000059326Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IL3RA / P26951 / interleukin 3 receptor subunit alphaENSG0000018529124


Protein motifs (from Interpro)
Interpro ID Name
 IPR003532  Short hematopoietin receptor, family 2, conserved site
 IPR003961  Fibronectin type III
 IPR013783  Immunoglobulin-like fold
 IPR015321  Type I cytokine receptor, cytokine-binding domain
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004713 protein tyrosine kinase activity TAS
 molecular_functionGO:0004896 cytokine receptor activity IEA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000100368 CSF2RB / P32927 / colony stimulating factor 2 receptor beta common subunit  / reaction / complex
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / reaction / complex
 ENSG00000164400 CSF2 / P04141 / colony stimulating factor 2  / reaction / complex
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / reaction / complex
 ENSG00000072062 P17612 / PRKACA / protein kinase cAMP-activated catalytic subunit alpha  / reaction
 ENSG00000165458 INPPL1 / O15357 / inositol polyphosphate phosphatase like 1  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / reaction / complex
 ENSG00000111679 PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6  / reaction / complex
 ENSG00000033327 GAB2 / Q9UQC2 / GRB2 associated binding protein 2  / complex
 ENSG00000198223 CSF2RA / P15509 / colony stimulating factor 2 receptor alpha subunit  / complex
 ENSG00000171608 O00329 / PIK3CD / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta  / reaction / complex
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / reaction / complex
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / reaction / complex
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000164924 YWHAZ / P63104 / tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta  / complex / reaction
 ENSG00000168918 INPP5D / Q92835 / inositol polyphosphate-5-phosphatase D  / complex / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / reaction / complex
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction






 

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