Gene Detail

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Gene Symbol CSF1R
Synonyms BANDDOS | C-FMS | CD115 | CSF-1R | CSFR | FIM2 | FMS | HDLS | HDLS1 | M-CSF-R
Gene Description CSF1R, 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), and Csf1r activating mutations have been reported in histiocytic neoplasms (PMID: 31768065).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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.
fusion fusion unknown CSF1R fusion indicates a fusion of the CSF1R gene, but the fusion partner is unknown.
mutant unknown unknown CSF1R mutant indicates an unspecified mutation in the CSF1R gene.
rearrange unknown unknown CSF1R rearrange indicates an unspecified rearrangement of the CSF1R gene.