ENSG00000100368


Homo sapiens

Features
Gene ID: ENSG00000100368
  
Biological name :CSF2RB
  
Synonyms : colony stimulating factor 2 receptor beta common subunit / CSF2RB / P32927
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 22
Strand: 1
Band: q12.3
Gene start: 36913628
Gene end: 36940449
  
Corresponding Affymetrix probe sets: 205159_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000393585
Ensembl peptide - ENSP00000262825
Ensembl peptide - ENSP00000384053
Ensembl peptide - ENSP00000385271
NCBI entrez gene - 1439     See in Manteia.
OMIM - 138981
RefSeq - XM_011529905
RefSeq - NM_000395
RefSeq - XM_005261340
RefSeq - XM_011529903
RefSeq - XM_011529904
RefSeq Peptide - NP_000386
swissprot - B0QY07
swissprot - P32927
swissprot - Q6NSJ8
Ensembl - ENSG00000100368
  
Related genetic diseases (OMIM): 614370 - Surfactant metabolism dysfunction, pulmonary, 5, 614370
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
 csf2rbENSDARG00000076586Danio rerio
 ENSGALG00000025881Gallus gallus
 Csf2rbENSMUSG00000071713Mus musculus
 P26954ENSMUSG00000071714Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003531  Short hematopoietin receptor, family 1, conserved site
 IPR003961  Fibronectin type III
 IPR011365  Cytokine IL-3/IL-5/GM-CSF receptor common beta chain
 IPR013783  Immunoglobulin-like fold
 IPR015321  Type I cytokine receptor, cytokine-binding domain
 IPR015373  Interferon/interleukin receptor domain
 IPR036116  Fibronectin type III superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007585 respiratory gaseous exchange TAS
 biological_processGO:0018108 peptidyl-tyrosine phosphorylation IEA
 biological_processGO:0019221 cytokine-mediated signaling pathway IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0036016 cellular response to interleukin-3 IEA
 biological_processGO:0038043 interleukin-5-mediated signaling pathway IEA
 biological_processGO:0038156 interleukin-3-mediated signaling pathway IEA
 biological_processGO:0044267 cellular protein metabolic process TAS
 biological_processGO:0065009 regulation of molecular function 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
 cellular_componentGO:0030526 granulocyte macrophage colony-stimulating factor receptor complex TAS
 molecular_functionGO:0004713 protein tyrosine kinase activity TAS
 molecular_functionGO:0004896 cytokine receptor activity IEA
 molecular_functionGO:0004912 interleukin-3 receptor activity TAS
 molecular_functionGO:0004914 interleukin-5 receptor activity TAS
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005515 protein binding IEA


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
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002093 Respiratory insufficiency 
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 HP:0002094 Dyspnea 
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 HP:0006517 Congenital alveolar proteinosis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000113525 IL5 / P05113 / interleukin 5  / complex / reaction
 ENSG00000091181 IL5RA / Q01344 / interleukin 5 receptor subunit alpha  / complex / reaction
 ENSG00000100368 CSF2RB / P32927 / colony stimulating factor 2 receptor beta common subunit  / complex
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000164399 IL3 / P08700 / interleukin 3  / complex / reaction
 ENSG00000164400 CSF2 / P04141 / colony stimulating factor 2  / complex / reaction
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / complex / reaction
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000185291 IL3RA / P26951 / interleukin 3 receptor subunit alpha  / complex / reaction
 ENSG00000111679 PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6  / complex / reaction
 ENSG00000033327 GAB2 / Q9UQC2 / GRB2 associated binding protein 2  / complex
 ENSG00000198223 CSF2RA / P15509 / colony stimulating factor 2 receptor alpha subunit  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / complex / reaction
 ENSG00000171608 O00329 / PIK3CD / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta  / complex / reaction
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000072062 P17612 / PRKACA / protein kinase cAMP-activated catalytic subunit alpha  / reaction
 ENSG00000165458 INPPL1 / O15357 / inositol polyphosphate phosphatase like 1  / 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  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction






 

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