CSF1R Chromosome 5

Colony stimulating factor 1 receptor

128 variants 128 Health Risk

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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

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

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
RS2480966732	Health Risk	Pathogenic	—
RS2480978777	Health Risk	Pathogenic	—
RS2481020701	Health Risk	Pathogenic	—
RS2481049004	Health Risk	Pathogenic	—
RS2481049607	Health Risk	Pathogenic	—
RS281860267	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS281860268	Health Risk	Pathogenic	—
RS281860271	Health Risk	Pathogenic	—
RS281860279	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS387906662	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS397515556	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS397515557	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS543585518	Health Risk	Pathogenic	—
RS587777245	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS587777246	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS587777247	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS690016546	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS690016548	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, CSF1R-related disorder, Leukoencephalopathy
RS690016554	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS690016562	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS753211296	Health Risk	Pathogenic	—
RS763029749	Health Risk	Pathogenic	—
RS780804532	Health Risk	Pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids
RS917027829	Health Risk	Pathogenic	Inborn genetic diseases, Brain abnormalities, neurodegeneration
RS1757529135	Health Risk	Pathogenic/Likely pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy, diffuse hereditary
RS2113779576	Health Risk	Pathogenic/Likely pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy, diffuse hereditary
RS281860269	Health Risk	Pathogenic/Likely pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, Leukoencephalopathy, diffuse hereditary
RS281860274	Health Risk	Pathogenic/Likely pathogenic	Hereditary diffuse leukoencephalopathy with spheroids, CSF1R-related disorder, Leukoencephalopathy

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