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Gene

CSF1R

colony stimulating factor 1 receptor

Summary

Cytogenetic location
5q32
Coordinates
Chromosome 5: 150,053,295–150,086,554 (GRCh38)
Exons
21 exons across 33.3 kb
Protein
972 amino acids
Inheritance
Autosomal dominant
Also known as
M-CSF-R, C-FMS, CSFR, CD115
Previous symbols
FMS
MANE Select transcript
ENST00000675795.1NM_001288705.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)

    • CSF1R-related adult-onset leukoencephalopathy with axonal spheroids (ALSP)Autosomal dominant

      Changes in CSF1R cause white matter disease in adulthood with changes in behaviour and thinking, depression, and problems with movement and walking.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Diagnosis can end a long search for a cause and allows referral to centres assessing treatments such as stem cell transplantation.

Broader groupings

  • Other Inherited Leukodystrophies

    • Leukodystrophy (other and unspecified types)

      One of 80 genes linked to it

      Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How CSF1R is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where CSF1R sits. CSF1R and 15 genes near it on chromosome 5, from 149,569,925 to 150,569,924.Chromosome 55q32p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.3149.6 Mb149.8 Mb150 Mb150.2 Mb150.4 MbARHGEF37: 149,551,947–149,637,962, forward strandARHGEF37PPARGC1B: 149,729,994–149,855,022, forward strandPPARGC1BPDE6A: 149,857,953–149,945,287, reverse strandPDE6ASLC26A2: 149,960,748–149,993,455, forward strandSLC26A2TIGD6: 149,992,252–150,001,160, reverse strandTIGD6HMGXB3: 150,000,046–150,053,148, forward strandHMGXB3CSF1R: 150,053,295–150,086,554, reverse strandCSF1RPDGFRB: 150,113,839–150,186,363, reverse strandPDGFRBCDX1: 150,166,772–150,186,162, forward strandCDX1SLC6A7: 150,190,041–150,222,788, forward strandSLC6A7CAMK2A: 150,219,491–150,290,324, reverse strandCAMK2AARSI: 150,296,343–150,339,307, reverse strandARSITCOF1: 150,357,629–150,400,510, forward strandTCOF1CD74: 150,401,637–150,412,969, reverse strandCD74RPS14: 150,429,756–150,449,952, reverse strandRPS14NDST1: 150,485,405–150,558,211, forward strandNDST1Diagram of CSF1R: 21 exons on the reverse strand of chromosome 5Exon 21: 1 known disease-causing siteExon 19: 4 known disease-causing sitesExon 18: 9 known disease-causing sitesExon 17: 9 known disease-causing sitesExon 16: 1 known disease-causing siteExon 14: 3 known disease-causing sitesExon 13: 5 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 21: 150,053,295–150,054,224, 930 basesExon 20: 150,054,322–150,054,430, 109 basesExon 19: 150,055,237–150,055,336, 100 basesExon 18: 150,056,026–150,056,137, 112 basesExon 17: 150,056,219–150,056,341, 123 basesExon 16: 150,057,287–150,057,384, 98 basesExon 15: 150,057,504–150,057,592, 89 basesExon 14: 150,059,700–150,059,862, 163 basesExon 13: 150,060,862–150,060,972, 111 basesExon 12: 150,061,491–150,061,595, 105 basesExon 11: 150,061,723–150,061,849, 127 basesExon 10: 150,068,215–150,068,330, 116 basesExon 9: 150,069,873–150,070,063, 191 basesExon 8: 150,070,182–150,070,302, 121 basesExon 7: 150,070,456–150,070,571, 116 basesExon 6: 150,073,301–150,073,493, 193 basesExon 5: 150,077,276–150,077,435, 160 basesExon 4: 150,078,112–150,078,248, 137 basesExon 3: 150,080,052–150,080,336, 285 basesExon 2: 150,080,767–150,081,024, 258 basesExon 1: 150,086,379–150,086,554, 176 bases2115′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.8 kb of the gene's 33.3 kb; 2,919 of those bases code for the protein.

How a genome test reads CSF1R

44

positions in CSF1R where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 33.3 kb of CSF1R, introns included, not only the 3.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CSF1R gene: colony stimulating factor 1 receptor. Retrieved 16 October 2026, from https://dantelabs.com/genes/csf1r

Vancouver

Dante Labs. CSF1R gene: colony stimulating factor 1 receptor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/csf1r

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