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]
Show

 HP:0002093 Respiratory insufficiency 
Show

 HP:0002094 Dyspnea 
Show

 HP:0006517 Congenital alveolar proteinosis 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000164399 IL3 / P08700 / interleukin 3  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000111679 PTPN6 / P29350 / protein tyrosine phosphatase, non-receptor type 6  / complex / reaction
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / reaction / complex
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000185291 IL3RA / P26951 / interleukin 3 receptor subunit alpha  / reaction / complex
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000164400 CSF2 / P04141 / colony stimulating factor 2  / reaction / complex
 ENSG00000100368 CSF2RB / P32927 / colony stimulating factor 2 receptor beta common subunit  / complex
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / complex / reaction
 ENSG00000091181 IL5RA / Q01344 / interleukin 5 receptor subunit alpha  / reaction / complex
 ENSG00000198223 CSF2RA / P15509 / colony stimulating factor 2 receptor alpha subunit  / complex / reaction
 ENSG00000033327 GAB2 / Q9UQC2 / GRB2 associated binding protein 2  / complex
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000113525 IL5 / P05113 / interleukin 5  / 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  / reaction / complex
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / reaction / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr