CSF3R (colony stimulating factor 3 receptor)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1441
Gene name Gene Name - the full gene name approved by the HGNC.
Colony stimulating factor 3 receptor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CSF3R
Synonyms (NCBI Gene) Gene synonyms aliases
CD114, GCSFR, SCN7
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
138971 2439 ENSG00000119535
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Neutropenia autosomal recessive severe congenital neutropenia due to csf3r deficiency rs1570588220, rs757401069, rs606231474, rs756667927, rs606231475, rs606231473, rs796065343, rs879253750, rs890101650, rs759302795, rs138156467 N/A
Hereditary Neutrophilia hereditary neutrophilia rs121918426 N/A
Immunodeficiency Inherited Immunodeficiency Diseases rs138156467 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Show/Hide Text Mining Associations (77)
Associations from Text Mining Disease 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