ENSG00000119535


Homo sapiens

Features
Gene ID: ENSG00000119535
  
Biological name :CSF3R
  
Synonyms : colony stimulating factor 3 receptor / CSF3R / Q99062
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: -1
Band: p34.3
Gene start: 36466043
Gene end: 36483278
  
Corresponding Affymetrix probe sets: 1553297_a_at (Human Genome U133 Plus 2.0 Array)   203591_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000431639
Ensembl peptide - ENSP00000362198
Ensembl peptide - ENSP00000435218
Ensembl peptide - ENSP00000332180
Ensembl peptide - ENSP00000355406
Ensembl peptide - ENSP00000362195
Ensembl peptide - ENSP00000362196
NCBI entrez gene - 1441     See in Manteia.
OMIM - 138971
RefSeq - XM_017000370
RefSeq - NM_156039
RefSeq - NM_172313
RefSeq - XM_005270493
RefSeq - XM_011540748
RefSeq - XM_011540749
RefSeq - XM_011540750
RefSeq - NM_000760
RefSeq Peptide - NP_758519
RefSeq Peptide - NP_000751
RefSeq Peptide - NP_724781
swissprot - H0YE86
swissprot - Q99062
swissprot - E9PK56
Ensembl - ENSG00000119535
  
Related genetic diseases (OMIM): 617014 - Neutropenia, severe congenital, 7, autosomal recessive, 617014
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
 csf3rENSDARG00000045959Danio rerio
 CSF3RENSGALG00000002112Gallus gallus
 Csf3rENSMUSG00000028859Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
IL6ST / P40189 / interleukin 6 signal transducerENSG0000013435225
Q99665 / IL12RB2 / interleukin 12 receptor subunit beta 2ENSG0000008198521
IL31RA / Q8NI17 / interleukin 31 receptor AENSG0000016450919
OSMR / Q99650 / oncostatin M receptorENSG0000014562317
LIFR / P42702 / LIF receptor alphaENSG0000011359417


Protein motifs (from Interpro)
Interpro ID Name
 IPR003529  Long hematopoietin receptor, Gp130 family 2, conserved site
 IPR003961  Fibronectin type III
 IPR010457  Immunoglobulin C2-set-like, ligand-binding
 IPR013783  Immunoglobulin-like fold
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006952 defense response TAS
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0019221 cytokine-mediated signaling pathway TAS
 biological_processGO:0030593 neutrophil chemotaxis IEA
 biological_processGO:0045637 regulation of myeloid cell differentiation IEA
 biological_processGO:0097186 amelogenesis IEA
 cellular_componentGO:0005576 extracellular region 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:0004896 cytokine receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0051916 granulocyte colony-stimulating factor binding IEA


Pathways (from Reactome)
Pathway description
Other interleukin signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 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:0001433 Hepatosplenomegaly 
Show

 HP:0001875 Neutropenia 
Show

 HP:0002684 Thickened calvaria "The presence of an abnormally thick calvaria." [HPO:curators]
Show

 HP:0002719 Recurrent infections 
Show

 HP:0002863 Myelodysplasia 
Show

 HP:0008318 Elevated leukocyte alkaline phosphatase "An increased alkaline phosphatase activity measured within leukocytes." [HPO:probinson]
Show

 HP:0011897 Neutrophillia "Increased number of neutrophils circulating in blood." [DDD:akelly]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000108342 CSF3 / P09919 / colony stimulating factor 3  / reaction / complex
 ENSG00000119535 CSF3R / Q99062 / colony stimulating factor 3 receptor  / complex / reaction






 

1 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