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
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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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
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
View all (29 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CSF3R-related disorder Pathogenic; Likely pathogenic rs765536522, rs138156467 RCV003892946
RCV003945713
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CSF3R-Related Disorders Likely pathogenic; Pathogenic rs138156467 RCV004689857
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early T cell progenitor acute lymphoblastic leukemia Likely pathogenic; Pathogenic rs796065343 RCV000190419
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (11)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATYPICAL CHRONIC MYELOID LEUKEMIA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC NEUTROPHILIC LEUKEMIA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (145)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 29932212, 9204982
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 29338593, 7688838
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 15069015, 24746896, 25730818, 26637693, 27034432, 31041512
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 33166403 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 11122117, 18637807
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 27807194
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 8699223
★★★★★
★☆☆☆☆
Found in Text Mining only
Atypical chronic myeloid leukemia Myeloid Leukemia Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases BEFREE 12676791
★★★★★
★☆☆☆☆
Found in Text Mining only
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency Congenital Neutropenia Orphanet
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)