CSF3R (colony stimulating factor 3 receptor)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1441
Gene name Colony stimulating factor 3 receptor
Gene symbol CSF3R
Synonyms (NCBI Gene)
CD114GCSFRSCN7
Chromosome 1
Chromosome location 1p34.3
Summary The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also
SNPs SNP information provided by dbSNP.
15
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
SNP ID Visualize variation Clinical significance Consequence
rs121918426 G>A,T Conflicting-interpretations-of-pathogenicity, pathogenic, likely-benign Missense variant, coding sequence variant
rs138156467 C>T Likely-pathogenic, pathogenic Stop gained, coding sequence variant
rs148104401 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs606231473 G>A Pathogenic Coding sequence variant, missense variant
rs606231474 C>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT2386498 hsa-miR-3154 CLIP-seq
MIRT2386499 hsa-miR-671-5p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
Transcription factor Regulation Reference
CEBPA Activation 10453008
CEBPB Activation 10453008
ETS1 Activation 7964503
ETS2 Activation 7964503
MYB Repression 7964503
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0004896 Function Cytokine receptor activity IBA
GO:0004896 Function Cytokine receptor activity IEA
GO:0005515 Function Protein binding IPI 9864141, 17363902
GO:0005576 Component Extracellular region IEA
GO:0005765 Component Lysosomal membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138971 2439 ENSG00000119535
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99062
Protein name Granulocyte colony-stimulating factor receptor (G-CSF receptor) (G-CSF-R) (CD antigen CD114)
Protein function Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differentiation and survival of cells along the neutrophilic lineage. In addition it may function in som
PDB 2D9Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06328 Lep_receptor_Ig 24 → 110 Ig-like C2-type domain Domain
PF00041 fn3 528 → 612 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: One or several isoforms have been found in myelogenous leukemia cell line KG-1, leukemia U-937 cell line, in bone marrow cells, placenta, and peripheral blood granulocytes. Isoform GCSFR-2 is found only in leukemia U-937 cells. Isoform
Sequence 
MARLGNCSLTWAALIILLLPGSLEECGHISVSAPIVHLGDPITASCIIKQNCSHLDPEPQ
ILWRLGAELQPGGRQQRLSDGTQESIITLPHLNHTQAFLSCCLNWGNSLQILDQVELRAG
YPPAIPHNLSCLMNLTTSSLICQWEPGPETHLPTSFTLKSFKSRGNCQTQGDSILDCVPK
DGQSHCCIPRKHLLLYQNMGIWVQAENALGTSMSPQLCLDPMDVVKLEPPMLRTMDPSPE
AAPPQAGCLQLCWEPWQPGLHINQKCELRHKPQRGEASWALVGPLPLEALQYELCGLLPA
TAYTLQIRCIRWPLPGHWSDWSPSLELRTTERAPTVRLDTWWRQRQLDPRTVQLFWKPVP
LEEDSGRIQGYVVSWRPSGQAGAILPLCNTTELSCTFHLPSEAQEVALVAYNSAGTSRPT
PVVFSESRGPALTRLHAMARDPHSLWVGWEPPNPWPQGYVIEWGLGPPSASNSNKTWRME
QNGRATGFLLKENIRPFQLYEIIVTPLYQDTMGPSQHVYAYSQEMAPSHAPELHLKHIGK
TWAQLEWVPEPPELGKSPLTHYTIFWTNAQNQSFSAILNASSRGFVLHGLEPASLYHIHL
MAASQAGATNSTVLTLMTLTPEGSELHIILGLFGLLLLLTCLCGTAWLCCSPNRKNPLWP
SVPDPAHSSLGSWVPTIMEEDAFQLPGLGTPPITKLTVLEEDEKKPVPWESHNSSETCGL
PTLVQTYVLQGDPRAVSTQPQSQSGTSDQVLYGQLLGSPTSPGPGHYLRCDSTQPLLAGL
TPSPKSYENLWFQASPLGTLVTPAPSQEDDCVFGPLLNFPLLQGIRVHGMEALGSF
Sequence length 836
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Cytokine-cytokine receptor interaction
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Pathways in cancer 		  Other interleukin signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
630
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Likely pathogenic; Pathogenic rs1650834071, rs1650834725, rs374536805, rs2124152665, rs1286213872, rs1248511242, rs767458386, rs992318824, rs2124127693, rs1236469336, rs765536522, rs606231474, rs606231475, rs606231473, rs767251022
View all (18 more)		 RCV001335445
RCV003756351
RCV001386326
RCV001382169
RCV005057612
RCV002040630
RCV001933386
RCV002002363
RCV001872823
RCV001981827
RCV001940010
RCV000234853
RCV000234852
RCV000234854
RCV002794868
RCV002771392
RCV001070576
RCV002865971
RCV002903403
RCV002934074
RCV003046321
RCV003755015
RCV000234855
RCV003591347
RCV003592217
RCV003756405
RCV003866137
RCV000653387
RCV000653388
RCV000691914
RCV000804104
RCV000811553
RCV001225134
RCV001247097
CSF3R-related disorder Pathogenic; Likely pathogenic rs765536522, rs138156467 RCV003892946
RCV003945713
CSF3R-Related Disorders Likely pathogenic; Pathogenic rs138156467 RCV004689857
Early T cell progenitor acute lymphoblastic leukemia Likely pathogenic; Pathogenic rs796065343 RCV000190419
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs3917999 RCV005920441
Gastric cancer Benign rs3917999 RCV005920443
Lung cancer Benign rs3917978, rs3917999 RCV005923087
RCV005920444
Sarcoma Benign rs3917978, rs3917999 RCV005923086
RCV005920442
Show/Hide Text Mining Associations (77)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Aplastic Associate 33166403
Bone Marrow Failure Disorders Associate 37450374
Breast Neoplasms Associate 27629739
Carcinoma Hepatocellular Associate 37275878, 38305606
Carcinoma Ovarian Epithelial Associate 24220695
Carcinoma Transitional Cell Associate 9166942
Cell Transformation Neoplastic Associate 31315541
Cell Transformation Viral Associate 18923646, 22371884
Cerebral Hemorrhage Associate 30836997
Chemotherapy Induced Febrile Neutropenia Associate 34990523