The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein... See more...

Aliases for CSF1R Gene

Aliases for CSF1R Gene

  • Colony Stimulating Factor 1 Receptor 2 3 5
  • McDonough Feline Sarcoma Viral (V-Fms) Oncogene Homolog 2 3
  • Macrophage Colony-Stimulating Factor 1 Receptor 3 4
  • Proto-Oncogene C-Fms 3 4
  • CSF-1 Receptor 3 4
  • CD115 Antigen 3 4
  • EC 2.7.10.1 4 54
  • M-CSF-R 3 4
  • CSF-1R 3 4
  • FMS 3 4
  • Macrophage Colony Stimulating Factor I Receptor 3
  • FMS Proto-Oncogene 3
  • EC 2.7.10 54
  • BANDDOS 3
  • CSF-1-R 4
  • C-FMS 3
  • CD115 3
  • CSFR 3
  • FIM2 3
  • HDLS 3

External Ids for CSF1R Gene

Previous HGNC Symbols for CSF1R Gene

  • FMS

Previous GeneCards Identifiers for CSF1R Gene

  • GC05M149503
  • GC05M150020
  • GC05M149416
  • GC05M149461
  • GC05M149413
  • GC05M144580

Summaries for CSF1R Gene

Entrez Gene Summary for CSF1R Gene

  • The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]

CIViC Summary for CSF1R Gene

GeneCards Summary for CSF1R Gene

CSF1R (Colony Stimulating Factor 1 Receptor) is a Protein Coding gene. Diseases associated with CSF1R include Leukoencephalopathy, Hereditary Diffuse, With Spheroids and Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis. Among its related pathways are Cytokine Signaling in Immune system and Signaling events mediated by PTP1B. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein kinase activity. An important paralog of this gene is KIT.

UniProtKB/Swiss-Prot Summary for CSF1R Gene

  • Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines in response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone and tooth development. Required for normal male and female fertility, and for normal development of milk ducts and acinar structures in the mammary gland during pregnancy. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration, and promotes cancer cell invasion. Activates several signaling pathways in response to ligand binding. Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL. Activation of PLCG2 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein kinase C family members, especially PRKCD. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to activation of the AKT1 signaling pathway. Activated CSF1R also mediates activation of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1. Activated CSF1R transmits signals both via proteins that directly interact with phosphorylated tyrosine residues in its intracellular domain, or via adapter proteins, such as GRB2. Promotes activation of STAT family members STAT3, STAT5A and/or STAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP-1. Receptor signaling is down-regulated by protein phosphatases, such as INPP5D/SHIP-1, that dephosphorylate the receptor and its downstream effectors, and by rapid internalization of the activated receptor.

Gene Wiki entry for CSF1R Gene

Additional gene information for CSF1R Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CSF1R Gene

Genomics for CSF1R Gene

GeneHancer (GH) Regulatory Elements for CSF1R Gene

Promoters and enhancers for CSF1R Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J150081 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 758.4 +29.3 29255 5.4 SP1 MYC ETV6 MAX MAFK CREM IKZF1 BACH1 IKZF2 ZNF143 CSF1R lnc-PDGFRB-4 lnc-PDGFRB-2
GH05J150111 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 750.6 +0.6 627 3.3 L3MBTL2 DACH1 MNT EGR1 GLIS2 CREB1 ZIC2 SMARCC1 CTBP1 PKNOX1 CSF1R PDGFRB RPL7P1 HMGXB3 TIGD6 lnc-CSF1R-1 HSALNG0045798
GH05J150133 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.9 -28.2 -28242 15.5 SIN3A ZBTB40 LCORL MLX RBPJ SMARCE1 USF2 NR2F6 CREB1 MIXL1 TCOF1 CDX1 HMGXB3 ZNF300 SLC6A7 CSF1R CAMK2A ZNF300P1 PDGFRB RPS14
GH05J150316 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.4 -206.8 -206774 8 SMARCE1 POLR2A USF2 NR2F1 NR2F6 HLF L3MBTL2 MNT ZBTB33 MAFK lnc-CAMK2A-1 PDGFRB CAMK2A TCOF1 SLC6A7 CDX1 CSF1R SYNPO ARSI
GH05J150065 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +47.0 47006 2.6 MYC MAX ZIC2 FOS FOSL1 JUND EBF1 VEZF1 lnc-PDGFRB-2 HMGXB3 TIGD6 CSF1R PDGFRB CDX1 PDE6A ENSG00000200334 TCOF1 CAMK2A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CSF1R on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CSF1R gene promoter:
  • AML1a

Genomic Locations for CSF1R Gene

Genomic Locations for CSF1R Gene
chr5:150,053,291-150,113,372
(GRCh38/hg38)
Size:
60,082 bases
Orientation:
Minus strand
chr5:149,432,854-149,492,935
(GRCh37/hg19)
Size:
60,082 bases
Orientation:
Minus strand

Genomic View for CSF1R Gene

Genes around CSF1R on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CSF1R Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CSF1R Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CSF1R Gene

Proteins for CSF1R Gene

  • Protein details for CSF1R Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07333-CSF1R_HUMAN
    Recommended name:
    Macrophage colony-stimulating factor 1 receptor
    Protein Accession:
    P07333
    Secondary Accessions:
    • B5A955
    • D3DQG2
    • Q6LDW5
    • Q6LDY4
    • Q86VW7

    Protein attributes for CSF1R Gene

    Size:
    972 amino acids
    Molecular mass:
    107984 Da
    Quaternary structure:
    • Interacts with INPPL1/SHIP2 and THOC5 (By similarity). Monomer. Homodimer. Interacts with CSF1 and IL34. Interaction with dimeric CSF1 or IL34 leads to receptor homodimerization. Interacts (tyrosine phosphorylated) with PLCG2 (via SH2 domain). Interacts (tyrosine phosphorylated) with PIK3R1 (via SH2 domain). Interacts (tyrosine phosphorylated) with FYN, YES1 and SRC (via SH2 domain). Interacts (tyrosine phosphorylated) with CBL, GRB2 and SLA2.

    Three dimensional structures from OCA and Proteopedia for CSF1R Gene

    Alternative splice isoforms for CSF1R Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CSF1R Gene

Selected DME Specific Peptides for CSF1R Gene

P07333:
  • FSSQVAQG
  • IHLYVKDPA
  • VAVKMLK
  • HTDRCDE
  • YKYKQKP
  • IDPTQLPY
  • KFYKLVKDGYQMAQP
  • YSCVASN
  • LPVKWMA
  • KGNARLP
  • CVYTVQSDVWSYG
  • NIVNLLGACT
  • SDVWSYGI
  • ALMSELK
  • WEIFSLG
  • AARNVLL
  • KWMAPESIF
  • VKDPARP
  • AEAMLGPSLS
  • YKNIHLEKKYVRRDS
  • EYCCYGDLLN
  • GAFGKVVEATA
  • GILLWEIF
  • GGPVLVITEYC
  • FAPKNIYSIMQ
  • PVKWMAPE
  • NCIHRDVAARNVLLT
  • DFGLARDI
  • NWTYLGPF

Post-translational modifications for CSF1R Gene

  • Autophosphorylated in response to CSF1 or IL34 binding. Phosphorylation at Tyr-561 is important for normal down-regulation of signaling by ubiquitination, internalization and degradation. Phosphorylation at Tyr-561 and Tyr-809 is important for interaction with SRC family members, including FYN, YES1 and SRC, and for subsequent activation of these protein kinases. Phosphorylation at Tyr-699 and Tyr-923 is important for interaction with GRB2. Phosphorylation at Tyr-723 is important for interaction with PIK3R1. Phosphorylation at Tyr-708 is important for normal receptor degradation. Phosphorylation at Tyr-723 and Tyr-809 is important for interaction with PLCG2. Phosphorylation at Tyr-969 is important for interaction with CBL. Dephosphorylation by PTPN2 negatively regulates downstream signaling and macrophage differentiation.
  • Ubiquitinated. Becomes rapidly polyubiquitinated after autophosphorylation, leading to its degradation.
  • Glycosylation at Asn45, Asn73, Asn153, Asn240, Asn275, Asn302, Asn335, Asn353, Asn412, Asn428, Asn480, and Asn805
  • Ubiquitination at Lys586, Lys812, and Lys870
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • CSF1R_HUMAN (1955)

Other Protein References for CSF1R Gene

Antibody Products

Protein Products

Domains & Families for CSF1R Gene

Gene Families for CSF1R Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CSF1R Gene

GenScript: Design optimal peptide antigens:
  • CSF1R protein (A2VDG3_HUMAN)
  • Proto-oncogene c-Fms (CSF1R_HUMAN)
  • Colony stimulating factor receptor (Q14085_HUMAN)
  • Colony stimulating factor 1 receptor (Q86VW7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P07333

UniProtKB/Swiss-Prot:

CSF1R_HUMAN :
  • The juxtamembrane domain functions as autoinhibitory region. Phosphorylation of tyrosine residues in this region leads to a conformation change and activation of the kinase.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
Domain:
  • The juxtamembrane domain functions as autoinhibitory region. Phosphorylation of tyrosine residues in this region leads to a conformation change and activation of the kinase.
  • The activation loop plays an important role in the regulation of kinase activity. Phosphorylation of tyrosine residues in this region leads to a conformation change and activation of the kinase.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
genes like me logo Genes that share domains with CSF1R: view

Function for CSF1R Gene

Molecular function for CSF1R Gene

UniProtKB/Swiss-Prot Function:
Tyrosine-protein kinase that acts as cell-surface receptor for CSF1 and IL34 and plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of proinflammatory chemokines in response to IL34 and CSF1, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone and tooth development. Required for normal male and female fertility, and for normal development of milk ducts and acinar structures in the mammary gland during pregnancy. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration, and promotes cancer cell invasion. Activates several signaling pathways in response to ligand binding. Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL. Activation of PLCG2 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein kinase C family members, especially PRKCD. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to activation of the AKT1 signaling pathway. Activated CSF1R also mediates activation of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1. Activated CSF1R transmits signals both via proteins that directly interact with phosphorylated tyrosine residues in its intracellular domain, or via adapter proteins, such as GRB2. Promotes activation of STAT family members STAT3, STAT5A and/or STAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP-1. Receptor signaling is down-regulated by protein phosphatases, such as INPP5D/SHIP-1, that dephosphorylate the receptor and its downstream effectors, and by rapid internalization of the activated receptor.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence={ECO:0000255 PROSITE-ProRule:PRU10028, ECO:0000269 PubMed:16170366, ECO:0000269 PubMed:16648572, ECO:0000269 PubMed:17121910, ECO:0000269 PubMed:18342505, ECO:0000269 PubMed:19193011, ECO:0000269 PubMed:20137931};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Present in an inactive conformation in the absence of bound ligand. CSF1 or IL34 binding leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib/STI-571 (Gleevec), dasatinib, sunitinib/SU11248, lestaurtinib/CEP-701, midostaurin/PKC-412, Ki20227, linifanib/ABT-869, Axitinib/AG013736, sorafenib/BAY 43-9006 and GW2580.
UniProtKB/Swiss-Prot Induction:
Up-regulated by glucocorticoids.
GENATLAS Biochemistry:
colony-stimulating factor 1 (macrophage),receptor

Enzyme Numbers (IUBMB) for CSF1R Gene

Phenotypes From GWAS Catalog for CSF1R Gene

Gene Ontology (GO) - Molecular Function for CSF1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity TAS 23392676
GO:0004714 transmembrane receptor protein tyrosine kinase activity IBA 21873635
GO:0005011 macrophage colony-stimulating factor receptor activity ISS,TAS --
GO:0005515 protein binding IPI 22153499
genes like me logo Genes that share ontologies with CSF1R: view
genes like me logo Genes that share phenotypes with CSF1R: view

Human Phenotype Ontology for CSF1R Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CSF1R Gene

MGI Knock Outs for CSF1R:

Animal Model Products

CRISPR Products

miRNA for CSF1R Gene

miRTarBase miRNAs that target CSF1R

Clone Products

  • Addgene plasmids for CSF1R

No data available for Transcription Factor Targets and HOMER Transcription for CSF1R Gene

Localization for CSF1R Gene

Subcellular locations from UniProtKB/Swiss-Prot for CSF1R Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CSF1R gene
Compartment Confidence
plasma membrane 5
nucleus 4
extracellular 3
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CSF1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,TAS 21873635
GO:0009986 cell surface ISS 8922060
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CSF1R: view

Pathways & Interactions for CSF1R Gene

PathCards logo

SuperPathways for CSF1R Gene

SuperPathway Contained pathways
1 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
4 PEDF Induced Signaling
.47
.46
5 Actin Nucleation by ARP-WASP Complex
.66
.66
.41
genes like me logo Genes that share pathways with CSF1R: view

Pathways by source for CSF1R Gene

33 Qiagen pathways for CSF1R Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
1 Cell Signaling Technology pathway for CSF1R Gene

SIGNOR curated interactions for CSF1R Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CSF1R Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation IMP 20504948
GO:0002244 hematopoietic progenitor cell differentiation IBA 21873635
GO:0002376 immune system process IEA --
GO:0002931 response to ischemia ISS 8922060
GO:0006468 protein phosphorylation IEA --
genes like me logo Genes that share ontologies with CSF1R: view

Drugs & Compounds for CSF1R Gene

(58) Drugs for CSF1R Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sunitinib Approved, Investigational Pharma Target, inhibitor VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor, RTK inhibitor, Potent VEGFR, PDGFRbeta and KIT inhibitor, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 540
imatinib Approved Pharma Target, antagonist, inhibitor Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Tyrosine Approved, Investigational Nutra 938
erdafitinib Approved, Investigational Pharma Target, substrate 0
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0

(24) Additional Compounds for CSF1R Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
N-desmethylimatinib
  • CGP74588

(13) ApexBio Compounds for CSF1R Gene

Compound Action Cas Number
BLZ945 CSF-1R kinase inhibitor 953769-46-5
c-FMS inhibitor C-FMS kinase inhibitor 885704-21-2
Dovitinib Dilactic acid 852433-84-2
GW2580 CFMS kinase/CSF-1R inhibitor,selective and ATP-competitive 870483-87-7
Ki20227 C-Fms tyrosine kinase inhibitor 623142-96-1
Linifanib (ABT-869) VEGFR/PDGFR inhibitor 796967-16-3
OSI-930 Inhibitor of Kit, KDR, Flt, CSF-1R, c-Raf and Lck 728033-96-3
Pazopanib (GW-786034) VEGFR/PDGFR/FGFR inhibitor 635702-64-6
Pazopanib Hydrochloride VEGFR/PDGFR/FGFR/c-Kit/ c-Fms inhibitor 635702-64-6
Pexidartinib (PLX3397) CSF-1R inhibitor 1029044-16-3
PLX647 dual inhibitor of FMS and KIT kinases 873786-09-5
Sunitinib malate VEGFR/PDGFRβ/ KIT/ FLT3/RET/CSF-1R inhibitor 341031-54-7
Vatalanib (PTK787) 2HCl Tyrosine kinase receptor inhibitor 212141-51-0
genes like me logo Genes that share compounds with CSF1R: view

Transcripts for CSF1R Gene

CRISPR Products

Clone Products

  • Addgene plasmids for CSF1R

Alternative Splicing Database (ASD) splice patterns (SP) for CSF1R Gene

No ASD Table

Relevant External Links for CSF1R Gene

GeneLoc Exon Structure for
CSF1R
ECgene alternative splicing isoforms for
CSF1R

Expression for CSF1R Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CSF1R Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CSF1R Gene

This gene is overexpressed in Spleen (x9.3) and Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for CSF1R Gene

This gene is overexpressed in Serum (19.6), Cerebrospinal fluid (12.4), Plasma (10.7), and Vitreous humor (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CSF1R Gene



NURSA nuclear receptor signaling pathways regulating expression of CSF1R Gene:

CSF1R

SOURCE GeneReport for Unigene cluster for CSF1R Gene:

Hs.586219

mRNA Expression by UniProt/SwissProt for CSF1R Gene:

P07333-CSF1R_HUMAN
Tissue specificity: Expressed in bone marrow and in differentiated blood mononuclear cells.

Evidence on tissue expression from TISSUES for CSF1R Gene

  • Nervous system(4.7)
  • Bone marrow(4.5)
  • Liver(4.5)
  • Spleen(3.3)
  • Blood(3.1)
  • Lymph node(2.9)
  • Intestine(2.5)
  • Heart(2.4)
  • Lung(2.4)
  • Bone(2.3)
  • Kidney(2.1)
  • Muscle(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CSF1R Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with CSF1R: view

No data available for Protein tissue co-expression partners for CSF1R Gene

Orthologs for CSF1R Gene

This gene was present in the common ancestor of chordates.

Orthologs for CSF1R Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CSF1R 33 32
  • 98.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CSF1R 33 32
  • 85.96 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CSF1R 33 32
  • 85.32 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Csf1r 32
  • 79.78 (n)
mouse
(Mus musculus)
Mammalia Csf1r 17 33 32
  • 79.7 (n)
oppossum
(Monodelphis domestica)
Mammalia CSF1R 33
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CSF1R 33
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves CSF1R 33
  • 52 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CSF1R 33
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia csf1r 32
  • 54.04 (n)
zebrafish
(Danio rerio)
Actinopterygii csf1ra 33 32
  • 54.19 (n)
OneToMany
csf1rb 33
  • 37 (a)
OneToMany
csf1r 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.31 32
Species where no ortholog for CSF1R was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CSF1R Gene

ENSEMBL:
Gene Tree for CSF1R (if available)
TreeFam:
Gene Tree for CSF1R (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CSF1R: view image

Paralogs for CSF1R Gene

(10) SIMAP similar genes for CSF1R Gene using alignment to 6 proteins:

  • CSF1R_HUMAN
  • A2VDG3_HUMAN
  • D6RGW1_HUMAN
  • E9PEK4_HUMAN
  • H0YAL5_HUMAN
  • Q14085_HUMAN
genes like me logo Genes that share paralogs with CSF1R: view

Variants for CSF1R Gene

Sequence variations from dbSNP and Humsavar for CSF1R Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs10079250 benign, Hereditary diffuse leukoencephalopathy with spheroids, - 150,070,569(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057519802 likely-pathogenic, Hematologic neoplasm, Myeloproliferative disorder 150,061,765(-) A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057520014 likely-pathogenic, Hematologic neoplasm 150,073,480(-) C/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1058920 likely-benign, Hereditary diffuse leukoencephalopathy with spheroids 150,053,664(-) C/G/T 3_prime_UTR_variant, non_coding_transcript_variant
rs116168767 likely-benign, Hereditary diffuse leukoencephalopathy with spheroids 150,068,203(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CSF1R Gene

Variant ID Type Subtype PubMed ID
dgv3192n106 CNV deletion 24896259
esv22778 CNV gain+loss 19812545
esv2355903 CNV deletion 18987734
esv2504567 CNV deletion 19546169
esv2661063 CNV deletion 23128226
esv2730911 CNV deletion 23290073
esv3450620 CNV duplication 20981092
esv3566807 CNV deletion 23714750
esv3607157 CNV loss 21293372
nsv1137036 CNV deletion 24896259
nsv523125 CNV loss 19592680
nsv528113 CNV loss 19592680
nsv528188 CNV gain 19592680
nsv830518 CNV loss 17160897
nsv964963 CNV duplication 23825009

Variation tolerance for CSF1R Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.06; 75.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CSF1R Gene

Human Gene Mutation Database (HGMD)
CSF1R
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CSF1R

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CSF1R Gene

Disorders for CSF1R Gene

MalaCards: The human disease database

(33) MalaCards diseases for CSF1R Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CSF1R in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CSF1R_HUMAN
  • Note=Aberrant expression of CSF1 or CSF1R can promote cancer cell proliferation, invasion and formation of metastases. Overexpression of CSF1 or CSF1R is observed in a significant percentage of breast, ovarian, prostate, and endometrial cancers.
  • Note=Aberrant expression of CSF1 or CSF1R may play a role in inflammatory diseases, such as rheumatoid arthritis, glomerulonephritis, atherosclerosis, and allograft rejection.
  • Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820]: An autosomal dominant adult-onset rapidly progressive neurodegenerative disorder characterized by variable behavioral, cognitive, and motor changes. Patients often die of dementia within 6 years of onset. Brain imaging shows patchy abnormalities in the cerebral white matter, predominantly affecting the frontal and parietal lobes. {ECO:0000269 PubMed:22197934, ECO:0000269 PubMed:24532199}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CSF1R

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CSF1R: view

No data available for Genatlas for CSF1R Gene

Publications for CSF1R Gene

  1. Inhibition of phosphorylation of the colony-stimulating factor-1 receptor (c-Fms) tyrosine kinase in transfected cells by ABT-869 and other tyrosine kinase inhibitors. (PMID: 16648572) Guo J … Glaser KB (Molecular cancer therapeutics 2006) 3 4 23 26 56
  2. Imatinib mesylate suppresses bone metastases of breast cancer by inhibiting osteoclasts through the blockade of c-Fms signals. (PMID: 18814279) Hiraga T … Nakamura H (International journal of cancer 2009) 3 4 23 56
  3. Novel splice variants derived from the receptor tyrosine kinase superfamily are potential therapeutics for rheumatoid arthritis. (PMID: 18593464) Jin P … Paleolog EM (Arthritis research & therapy 2008) 3 4 23 56
  4. [N-ras and fms gene mutation in idiopathic thrombocytopenic purpura and myelodysplasia]. (PMID: 18788612) Zhao HY … Wang P (Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2008) 3 23 43 56
  5. The 2.7 A crystal structure of the autoinhibited human c-Fms kinase domain. (PMID: 17292918) Walter M … Rossjohn J (Journal of molecular biology 2007) 3 4 23 56

Products for CSF1R Gene