Gene
CSF3R
colony stimulating factor 3 receptor
- HGNC 2439↗(opens in a new tab)
- Ensembl gene ENSG00000119535↗(opens in a new tab)
- NCBI Gene 1441↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p34.3
- Coordinates
- Chromosome 1: 36,466,043–36,482,913 (GRCh38)
- Exons
- 17 exons across 16.9 kb
- Protein
- 836 amino acids
- Also known as
- GCSFR, G-CSF-R
- Previous symbols
- CD114
- MANE Select transcript
- ENST00000373106.6NM_000760.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Severe Congenital Neutropenia
- 2 GenCC submitters rate it definitive or strong
How CSF3R is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 kb of the gene's 16.9 kb; 2,511 of those bases code for the protein.
How a genome test reads CSF3R
37
positions in CSF3R 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 16.9 kb of CSF3R, introns included, not only the 3 kb of exons.
Genes linked to the same conditions
- CLPBClpB family mitochondrial disaggregaseShares 1 condition
- CXCR2C-X-C motif chemokine receptor 2Shares 1 condition
- G6PC3glucose-6-phosphatase catalytic subunit 3Shares 1 condition
- GFI1growth factor independent 1 transcriptional repressorShares 1 condition
- HAX1HCLS1 associated protein X-1Shares 1 condition
- JAGN1jagunal vesicle mediated transporter 1Shares 1 condition
- SRP54signal recognition particle 54Shares 1 condition
- VPS45vacuolar protein sorting 45 homologShares 1 condition
- WASWASP actin nucleation promoting factorShares 1 condition
Traits linked to CSF3R
The Human Phenotype Ontology lists these as features of the rare conditions CSF3R can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). CSF3R gene: colony stimulating factor 3 receptor. Retrieved 16 October 2026, from https://dantelabs.com/genes/csf3r
Dante Labs. CSF3R gene: colony stimulating factor 3 receptor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/csf3r
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