Gene Detail

Gene Symbol CSF1R
Synonyms C-FMS | CD115 | CSF-1R | CSFR | FIM2 | FMS | HDLS | M-CSF-R
Gene Description CSF1R, macrophage colony-stimulating factor 1 receptor, is a tyrosine kinase and receptor for CSF1 and IL34, which upon ligand binding activates PI3K-AKT-mTOR, RAS-RAF-MEK-ERK and STAT signaling pathways (PMID: 22186992). CSF1R is expressed by tumor-associated macrophages to induce tumor promotion (PMID: 30065206) and therefore, a number of therapies to block Csf1r are under development (PMID: 28716061).
Entrez Id 1436
Chromosome 5
Map Location 5q32
Canonical Transcript NM_005211

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
D837H missense unknown CSF1R D837H lies within the protein kinase domain of the Csf1r protein (UniProt.org). D837H has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
A273S missense unknown CSF1R A273S lies within the Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). A273S has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
E920D missense unknown CSF1R E920D lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). E920D has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
T663I missense unknown CSF1R T663I lies within the protein kinase domain of the Csf1r protein (UniProt.org). T663I has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
R370H missense unknown CSF1R R370H lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). R370H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
Q448H missense unknown CSF1R Q448H lies within the Ig-like C2-type domain 5 of the Csf1r protein (UniProt.org). Q448H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
H362R missense gain of function - predicted CSF1R H362R lies within the extracellular domain of the Csf1r protein (UniProt.org). H362R is predicted to increase Csf1r binding to CSF in a homology-based model, and increases phosphorylation of JNK in cell culture (PMID: 25144241).
V315L missense unknown CSF1R V315L lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). V315L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
A781G missense unknown CSF1R A781G lies within the protein kinase domain of the Csf1r protein (UniProt.org). A781G has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
H345P missense unknown CSF1R H345P lies within Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). H345P has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
D802V missense gain of function CSF1R D802V lies within the protein kinase domain of the Csf1r protein (UniProt.org). D802V confers a gain of function as demonstrated by increased stability of the Csf1r protein and ability to transform cells (PMID: 10340379).
R41Q missense unknown CSF1R R41Q lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). R41Q has not been characterized in the scientific literature and therefore, its effect on R41Q protein function is unknown (PubMed, Nov 2018).
A767V missense unknown CSF1R A767V lies within the protein kinase domain of the Csf1r protein (UniProt.org). A767V has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
L309P missense unknown CSF1R L309P lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). L309P has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
R144H missense unknown CSF1R R144H lies within the Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). R144H has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
A123T missense unknown CSF1R A123T lies within the Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). A123T has been identified in sequencing studies (PMID: 24997986, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
P56H missense unknown CSF1R P56H lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P56H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
A245S missense unknown CSF1R A245S lies within the Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). A245S has been identified in sequencing studies (PMID: 23649896), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
E557D missense unknown CSF1R E557D lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). E557D has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
act mut unknown gain of function CSF1R act mut indicates that this variant results in a gain of function in the CSF1R protein. However, the specific amino acid change has not been identified.
P56R missense unknown CSF1R P56R lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P56R has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
Y969C missense unknown CSF1R Y969C lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y969C has been identified in the scientific literature (PMID: 2406720), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
P966L missense unknown CSF1R P966L lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). P966L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
P901S missense unknown CSF1R P901S lies within the protein kinase domain of the Csf1r protein (UniProt.org). P901S has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
L303V missense unknown CSF1R L303V lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). L303V has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
F737L missense unknown CSF1R F737L lies within the protein kinase domain of the Csf1r protein (UniProt.org). F737L has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
R294Q missense unknown CSF1R R294Q lies within the extracellular domain of the Csf1r protein (UniProt.org). R294Q has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
wild-type none no effect Wild-type CSF1R indicates that no mutation has been detected within the CSF1R gene.
A527T missense unknown CSF1R A527T lies within the helical domain of the Csf1r protein (UniProt.org). A527T has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
H506Y missense unknown CSF1R H506Y lies within the helical domain of the Csf1r protein (UniProt.org). H506Y has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
rearrange unknown unknown CSF1R rearrange indicates an unspecified rearrangement of the CSF1R gene.
Y360C missense unknown CSF1R Y360C lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). Y360C has been identified in sequencing studies (PMID: 22810696, PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
G690S missense unknown CSF1R G690S lies within the protein kinase domain of the Csf1r protein (UniProt.org). G690S has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
V613M missense unknown CSF1R V613M lies within the protein kinase domain of the Csf1r protein (UniProt.org). V613M has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
R370C missense unknown CSF1R R370C lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). R370C has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
L301S missense gain of function CSF1R L301S lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). L301S results in a gain of function in Csf1r, demonstrating constitutive kinase activity, transforming activity in cultured cells (PMID: 2157180), and tumorigenicity in nude mice (PMID: 2974321).
Y571D missense gain of function CSF1R Y571D lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). Y571D was shown to result in constitutive activation of the Csf1r protein, increased colony growth, and elevated Csf1r signaling in cultured cells (PMID: 18971950).
R753L missense unknown CSF1R R753L lies within the protein kinase domain of the Csf1r protein (UniProt.org). R753L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
over exp none no effect CSF1R over exp indicates an over expression of the Csf1r protein. However, the mechanism causing the over expression is unspecified.
K543M missense unknown CSF1R K543M lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). K543M has been identified in sequencing studies (PMID: 22842228), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
W575* nonsense loss of function - predicted CSF1R W575* results in a premature truncation of the Csf1r protein at amino acid 575 of 972 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), W575* is predicted to lead to a loss of Csf1r protein function.
H506Q missense unknown CSF1R H506Q lies within the helical domain of the Csf1r protein (UniProt.org). H506Q has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
R256C missense unknown CSF1R R256C lies within Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). R256C has been identified in sequencing studies (PMID: 28481359, PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
V279M missense unknown CSF1R V279M lies within the Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). V279M has been identified in sequencing studies (PMID: 23103869), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
V38M missense unknown CSF1R V38M lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). V38M has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
A96T missense unknown CSF1R A96T lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). A96T has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
E49K missense unknown CSF1R E49K lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). E49K has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
P104T missense unknown CSF1R P104T lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P104T has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
G340V missense unknown CSF1R G340V lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). G340V has been identified in sequencing studies (PMID: 22722201), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
Y540S missense unknown CSF1R Y540S lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y540S has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
Y61H missense unknown CSF1R Y61H lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). Y61H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
N302H missense unknown CSF1R N302H lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). N302H has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
G413S missense unknown CSF1R G413S lies within the Ig-like C2-type domain 5 of the Csf1r protein (UniProt.org). G413S has been identified in the scientific literature (PMID: 23889897, PMID: 18971950, PMID: 25957691, PMID: 25589618), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
positive unknown unknown CSF1R positive indicates the presence of the CSF1R gene, mRNA, and/or protein.
V325M missense unknown CSF1R V325M lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). V325M has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
Y969* nonsense unknown CSF1R Y969* results in a premature truncation of the Csf1r protein at amino acid 969 of 972 (UniProt.org). Y969* has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
V138D missense unknown CSF1R V138D lies within Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). V138D has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
mutant unknown unknown CSF1R mutant indicates an unspecified mutation in the CSF1R gene.
N255I missense unknown CSF1R N255I lies within the Ig-like C2-type domain 3 of the Csfr1 protein (UniProt.org). N255I has been identified in the scientific literature (PMID: 23889897, PMID: 29531323), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
R710H missense unknown CSF1R R710H lies within the protein kinase domain of the Csf1r protein (UniProt.org). R710H has been identified in sequencing studies (PMID: 22610119), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
A960T missense unknown CSF1R A960T lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). A960T has been identified in sequencing studies (PMID: 22941188, PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
Y969H missense unknown CSF1R Y969H lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y969H has been identified in the scientific literature (PMID: 2406720), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
Y969F missense unknown CSF1R Y969F lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). Y969F has not been biochemically characterized, but results in increased transforming ability compared to wild-type Csf1r protein in cell culture (PMID: 18971950).
C224S missense unknown CSF1R C224S lies within the Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). C224S has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
L301F missense unknown CSF1R L301F lies within the Ig-like C2-type domain 4 of the Csf1r protein (UniProt.org). L301F has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
R144C missense unknown CSF1R R144C lies within the Ig-like C2-type domain 2 of the Csf1r protein (UniProt.org). R144C has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
P510L missense unknown CSF1R P510L lies within the extracellular domain of the Csf1r protein (UniProt.org). P510L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
R549C missense unknown CSF1R R549C lies within the cytoplasmic domain of the Csf1r protein (UniProt.org). R549C has not been characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
P566L missense unknown CSF1R P566L lies within the regulatory juxtamembrane domain of the Csf1r protein (UniProt.org). P566L has been identified in sequencing studies (PMID: 27998968), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
P855L missense unknown CSF1R P855L lies within the protein kinase domain of the Csf1r protein (UniProt.org). P855L has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
T37M missense unknown CSF1R T37M lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). T37M has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
E475Q missense unknown CSF1R E475Q lies within Ig-like C2-type domain 5 of the Csf1r protein (UniProt.org). E475Q has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
D837N missense unknown CSF1R D837N lies within the protein kinase domain of the Csf1r protein (UniProt.org). D837N has been identified in sequencing studies (PMID: 25151357), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Oct 2018).
S250F missense unknown CSF1R S250F lies within the Ig-like C2-type domain 3 of the Csf1r protein (UniProt.org). S250F has been identified in sequencing studies (PMID: 28069802), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
A226V missense unknown CSF1R A226V lies within the Ig-like C2-type domain 3 of the Csfr1 protein (UniProt.org). A226V has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
P28S missense unknown CSF1R P28S lies within the Ig-like C2-type domain 1 of the Csf1r protein (UniProt.org). P28S has not been characterized in the scientific literature and therefore, its effect on Csf1r protein function is unknown (PubMed, Nov 2018).
Molecular Profile Protein Effect Treatment Approaches
CSF1R D837H unknown
CSF1R A273S unknown
CSF1R E920D unknown
CSF1R T663I unknown
CSF1R R370H unknown
CSF1R Q448H unknown
CSF1R H362R gain of function - predicted
CSF1R V315L unknown
CSF1R A781G unknown
CSF1R H345P unknown
CSF1R D802V gain of function CSF1R Inhibitor
CSF1R R41Q unknown
CSF1R A767V unknown
CSF1R L309P unknown
CSF1R R144H unknown
CSF1R A123T unknown
CSF1R P56H unknown
CSF1R A245S unknown
CSF1R E557D unknown
CSF1R act mut gain of function CSF1R Inhibitor
CSF1R P56R unknown
CSF1R Y969C unknown
CSF1R P966L unknown
CSF1R P901S unknown
CSF1R L303V unknown
CSF1R F737L unknown
CSF1R R294Q unknown
CSF1R wild-type no effect
CSF1R A527T unknown
CSF1R H506Y unknown
CSF1R rearrange unknown
CSF1R Y360C unknown
CSF1R G690S unknown
CSF1R V613M unknown
CSF1R R370C unknown
CSF1R L301S gain of function CSF1R Inhibitor
CSF1R Y571D gain of function CSF1R Inhibitor
CSF1R R753L unknown
CSF1R over exp no effect
CSF1R K543M unknown
CSF1R W575* loss of function - predicted
CSF1R H506Q unknown
CSF1R R256C unknown
CSF1R V279M unknown
CSF1R V38M unknown
CSF1R A96T unknown
CSF1R E49K unknown
CSF1R P104T unknown
CSF1R G340V unknown
CSF1R Y540S unknown
CSF1R Y61H unknown
CSF1R N302H unknown
CSF1R G413S unknown
CSF1R positive unknown
BRAF V600E CSF1R positive
CSF1R V325M unknown
CSF1R Y969* unknown
CSF1R V138D unknown
CSF1R mutant unknown
CSF1R N255I unknown
CSF1R R710H unknown
CSF1R A960T unknown
CSF1R Y969H unknown
CSF1R Y969F unknown CSF1R Inhibitor
CSF1R C224S unknown
CSF1R L301F unknown
CSF1R R144C unknown
CSF1R P510L unknown
CSF1R R549C unknown
CSF1R P566L unknown
CSF1R P855L unknown
CSF1R T37M unknown
CSF1R E475Q unknown
CSF1R D837N unknown
CSF1R S250F unknown
CSF1R A226V unknown
CSF1R P28S unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
CSF1R Y571D myeloid leukemia sensitive Imatinib Preclinical Actionable In a preclinical study, CSFR1 Y571D conferred sensitivity to Gleevec (imatinib) in myeloid cell lines in culture (PMID: 18971950). 18971950
CSF1R over exp tenosynovial giant cell tumor sensitive Pexidartinib Phase I Actionable In a Phase I trial, PLX3397 reduced tenosynovial giant cell tumor volume in patients with overexpression of Csf1r (PMID: 26222558). 26222558
CSF1R positive Hodgkin's lymphoma not applicable N/A Clinical Study Prognostic In multiple clinical studies, elevated levels of CSF1R expression were associated with a worse survival in patients with Hodgkin's lymphoma (PMID: 24619759, PMID: 26066800, PMID: 22955918). 24619759 26066800 22955918
CSF1R positive Hodgkin's lymphoma sensitive Sorafenib Preclinical Actionable In a preclinical study, Nexavar (sorafenib) inhibited CSF1R phosphorylation and induced apoptosis in Hodgkin's lymphoma cells in culture (PMID: 21517818) 21517818
BRAF V600E CSF1R positive melanoma sensitive Pexidartinib + Vemurafenib Preclinical Actionable In a preclinical study, a melanoma mouse model harboring BRAF V600E treated with Zelboraf (vemurafenib) demonstrated a greater drug induced sensitivity when treatment was combined with PLX3397, resulting in increased infiltration of lymphocytes via Csf1r inhibition and elevated antitumor activity (PMID: 25939769). 25939769