colony stimulating factor 1 receptor
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Diagnostic Grade (Green)
Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset leukodystrophy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset dementia (encompassing fronto-temporal dementia and prion disease)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
BIALLELIC, autosomal or pseudoautosomalInherited white matter disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomalParkinson Disease and Complex Parkinsonism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+2 more panels — install the extension to see the full list inline on any page.
leukoencephalopathy, diffuse hereditary, with spheroids 1
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
brain abnormalities, neurodegeneration, and dysosteosclerosis
gastrointestinal stromal tumor
renal cell carcinoma
neoplasm
leukoencephalopathy, hereditary diffuse, with spheroids
tenosynovial giant cell tumor, diffuse type
neuroendocrine neoplasm
soft tissue sarcoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Macrophage colony-stimulating factor 1 receptor
Tyrosine-protein kinase that acts as a 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 pro-inflammatory 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, including the ERK1/2 and the JNK pathway (PubMed:20504948, PubMed:30982609). 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. In the central nervous system, may play a role in the development of microglia macrophages (PubMed:30982608)
CSF1R · P07333
Mean pLDDT
77.8/ 100
Confident
972 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
