CSF1R Chromosome 5
Colony stimulating factor 1 receptor
Upload your DNA to see your personal genotypes for variants in CSF1R.
What This Gene Does
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]
Gene Info
Gene Group
"Receptor tyrosine kinases|CD molecules|Immunoglobulin like domain containing"
Locus Type
gene with protein product
Location
5q32
Ensembl
ENSG00000182578
Associated Conditions (16)
Inborn genetic diseases
CSF1R-related disorder
Leukoencephalopathy
diffuse hereditary
with spheroids 1
Brain abnormalities
neurodegeneration
and dysosteosclerosis
Hereditary diffuse leukoencephalopathy with spheroids
Acute myeloid leukemia
Colon adenocarcinoma
Frontotemporal dementia
CSF1R-Related Adult-Onset Leukoencephalopathy
Parkinsonian disorder
Alzheimer disease
CSF1R-related leukoencephalopathy
Key Variants
RS1037469343
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1161693014
Conflicting classifications of pathogenicity
Health Risk
RS1209791630
Conflicting classifications of pathogenicity
CSF1R-related disorder, CSF1R-related disorder
Health Risk
RS1256984931
Conflicting classifications of pathogenicity
Health Risk
RS1275309683
Conflicting classifications of pathogenicity
Leukoencephalopathy, diffuse hereditary, with spheroids 1
Health Risk
RS139635308
Conflicting classifications of pathogenicity
Brain abnormalities, neurodegeneration, and dysosteosclerosis
Health Risk
RS140815605
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141621829
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142435467
Conflicting classifications of pathogenicity
Hereditary diffuse leukoencephalopathy with spheroids, Inborn genetic diseases, Hereditary diffuse leukoencephalopathy with spheroids
Health Risk
RS142543645
Conflicting classifications of pathogenicity
CSF1R-related disorder, Inborn genetic diseases, CSF1R-related disorder
Health Risk
RS143025739
Conflicting classifications of pathogenicity
Hereditary diffuse leukoencephalopathy with spheroids, Inborn genetic diseases, Hereditary diffuse leukoencephalopathy with spheroids
Health Risk
RS144414073
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (128)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS755627444 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS755681714 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756684628 | Health Risk | Conflicting classifications of pathogenicity | Brain abnormalities, neurodegeneration, and dysosteosclerosis |
| RS756763314 | Health Risk | Conflicting classifications of pathogenicity | Hereditary diffuse leukoencephalopathy with spheroids, Inborn genetic diseases, Hereditary diffuse leukoencephalopathy with spheroids |
| RS760878957 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764988673 | Health Risk | Conflicting classifications of pathogenicity | Brain abnormalities, neurodegeneration, and dysosteosclerosis |
| RS765232439 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767351282 | Health Risk | Conflicting classifications of pathogenicity | Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS767546915 | Health Risk | Conflicting classifications of pathogenicity | Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS767836397 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS772750557 | Health Risk | Conflicting classifications of pathogenicity | Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS776871942 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS778420941 | Health Risk | Conflicting classifications of pathogenicity | Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS1371847178 | Health Risk | Likely pathogenic | — |
| RS1403823146 | Health Risk | Likely pathogenic | Leukoencephalopathy, diffuse hereditary, with spheroids 1 |
| RS1561901881 | Health Risk | Likely pathogenic | Alzheimer disease, Alzheimer disease |
| RS1561905293 | Health Risk | Likely pathogenic | Alzheimer disease, Alzheimer disease |
| RS1581280059 | Health Risk | Likely pathogenic | — |
| RS1757197459 | Health Risk | Likely pathogenic | Brain abnormalities, neurodegeneration, and dysosteosclerosis |
| RS1757528753 | Health Risk | Likely pathogenic | Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy, diffuse hereditary |
| RS1758310413 | Health Risk | Likely pathogenic | Brain abnormalities, neurodegeneration, and dysosteosclerosis |
| RS2113778666 | Health Risk | Likely pathogenic | Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS2113779595 | Health Risk | Likely pathogenic | Leukoencephalopathy, diffuse hereditary, with spheroids 1 |
| RS2113787194 | Health Risk | Likely pathogenic | — |
| RS2113824192 | Health Risk | Likely pathogenic | — |
| RS2480936022 | Health Risk | Likely pathogenic | Leukoencephalopathy, diffuse hereditary, with spheroids 1 |
| RS2480949545 | Health Risk | Likely pathogenic | — |
| RS2480950041 | Health Risk | Likely pathogenic | Leukoencephalopathy, diffuse hereditary, with spheroids 1 |
| RS2480967878 | Health Risk | Likely pathogenic | — |
| RS2481050185 | Health Risk | Likely pathogenic | Brain abnormalities, neurodegeneration, and dysosteosclerosis |
| RS281860277 | Health Risk | Likely pathogenic | CSF1R-related leukoencephalopathy, CSF1R-related leukoencephalopathy |
| RS281860281 | Health Risk | Likely pathogenic | Hereditary diffuse leukoencephalopathy with spheroids, Brain abnormalities, neurodegeneration |
| RS690016549 | Health Risk | Likely pathogenic | — |
| RS690016556 | Health Risk | Likely pathogenic | Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS767475362 | Health Risk | Likely pathogenic | Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS1228572300 | Health Risk | Pathogenic | — |
| RS1561904557 | Health Risk | Pathogenic | Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS1561913526 | Health Risk | Pathogenic | Brain abnormalities, neurodegeneration, and dysosteosclerosis |
| RS1581289103 | Health Risk | Pathogenic | Brain abnormalities, neurodegeneration, and dysosteosclerosis |
| RS1757203198 | Health Risk | Pathogenic | Leukoencephalopathy, diffuse hereditary, with spheroids 1 |
| RS1757419927 | Health Risk | Pathogenic | — |
| RS1757422149 | Health Risk | Pathogenic | Leukoencephalopathy, diffuse hereditary, with spheroids 1 |
| RS1757478199 | Health Risk | Pathogenic | Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS1757862455 | Health Risk | Pathogenic | Brain abnormalities, neurodegeneration, and dysosteosclerosis |
| RS1758458149 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2113778038 | Health Risk | Pathogenic | Brain abnormalities, neurodegeneration, and dysosteosclerosis |
| RS2113778102 | Health Risk | Pathogenic | — |
| RS2113779465 | Health Risk | Pathogenic | — |
| RS2113809084 | Health Risk | Pathogenic | — |
| RS2113810185 | Health Risk | Pathogenic | — |