Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

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).

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
CSF1R A123T unknown
CSF1R A226V unknown
CSF1R A245S unknown
CSF1R A273S unknown
CSF1R A527T unknown
CSF1R A767V unknown
CSF1R A781G unknown
CSF1R A960T unknown
CSF1R A96T unknown
CSF1R act mut gain of function CSF1R Inhibitor
CSF1R amp no effect
CSF1R C224S unknown
CSF1R D802V gain of function CSF1R Inhibitor
CSF1R D837H unknown
CSF1R D837N unknown
CSF1R E475Q unknown
CSF1R E49K unknown
CSF1R E557D unknown
CSF1R E920D unknown
CSF1R F737L unknown
CSF1R fusion unknown
CSF1R G340V unknown
CSF1R G413S unknown
CSF1R G690S unknown
CSF1R H345P unknown
CSF1R H362R gain of function - predicted
CSF1R H506Q unknown
CSF1R H506Y unknown
CSF1R I794T loss of function - predicted
CSF1R K543M unknown
CSF1R L301F unknown
CSF1R L301S gain of function CSF1R Inhibitor
CSF1R L303V unknown
CSF1R L309P unknown
CSF1R mutant unknown
CSF1R N255I unknown
CSF1R N302H unknown
CSF1R over exp no effect
CSF1R P104T unknown
CSF1R P28S unknown
CSF1R P510L unknown
CSF1R P566L unknown
CSF1R P56H unknown
CSF1R P56R unknown
CSF1R P855L unknown
CSF1R P901S unknown
CSF1R P966L unknown
CSF1R positive unknown
BRAF V600E CSF1R pos
CSF1R Q448H unknown
CSF1R Q877K unknown
CSF1R R144C unknown
CSF1R R144H unknown
CSF1R R256C unknown
CSF1R R294Q unknown
CSF1R R370C unknown
CSF1R R370H unknown
CSF1R R41Q unknown
CSF1R R549C unknown
CSF1R R549_E554delinsQ gain of function - predicted
CSF1R R710H unknown
CSF1R R753L unknown
CSF1R rearrange unknown
CSF1R S250F unknown
CSF1R T37M unknown
CSF1R T663I unknown
CSF1R V138D unknown
CSF1R V279M unknown
CSF1R V27F unknown
CSF1R V315L unknown
CSF1R V325M unknown
CSF1R V38M unknown
CSF1R V613M unknown
CSF1R W450_E456del gain of function
CSF1R W575* loss of function - predicted
CSF1R wild-type no effect
CSF1R Y360C unknown
CSF1R Y540S unknown
CSF1R Y546_K551del gain of function
CSF1R Y561_I564del unknown
CSF1R Y571D gain of function CSF1R Inhibitor
CSF1R Y61H unknown
CSF1R Y969* unknown
CSF1R Y969C unknown
CSF1R Y969F gain of function - predicted CSF1R Inhibitor
CSF1R Y969H unknown