Information on CSF3R
Basic details
Alt. symbols: CD114 | GCSFR
Approved name: colony stimulating factor 3 receptor
Alt. names: colony stimulating factor 3 receptor (granulocyte)
Location: 1p34.3: 36466043 - 36483278 (-)
Gene type: protein_coding, 16 transcripts.
Scores: LoFtool: 0.786000 | pLI: 0.00000142 | LOEUF: 0.766
Normal function
The gene encodes the receptor for granulocyte colony-stimulating factor (CSF3), which is essential for granulocytic maturation. It plays a crucial role in the proliferation, differentiation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface.
Dysfunction and disease
Mutations in this gene were first reported in five patients with severe congenital neutropenia (SCN) by Dong F. and colleagues in 1994-1997 (PMID: 7514305, 7542747, 9001427). The first patient described was found to carry a somatic nonsense mutation (p.Q716X) in cells of the granulocytic lineage (PMID: 7514305). The other four additional young SCN patients carried biallelic germline nonsense mutations (p.Q718X, p.Q720X, p.Q731X) and later developed acute myeloblastic leukemia (AML). Two addition al cases with AML were reported by Forbes L. et al. in 2002 (PMID: 12203110); these individuals were found to carry a somatic activating missense mutation (p.T617N) in the gene. This same mutation was found segregating in the germline of a large family with autosomal dominant neutrophilia by Plo I. et al. in 2009 (PMID: 19620628). A larger study in 2013 identified activating mutations in the gene in 16 of 27 patients (59%) with chronic neutrophilic leukemia (CNL) or atypical chronic myeloid leukemia (CML). The reported mutations were T615A, T618l, Q741X, Y752X, D771fs, S783fs, W791X. More recently, another 5 patients with SCN from 3 unrelated families were reported to carry biallelic loss of function mutations (p.R308C, p.G316fsX322, p.G415fsX432, p.W547X, c.998-2A>T). [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2021-06-09 11:09:28]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SCN7 |
Severe congenital neutropenia 7 | AR |
617014 |
0 (0 fams) | |
| HNPH |
Hereditary neutrophilia | AD |
162830 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of CSF3R
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000373104.5 | CCDS412 | protein_coding | 18 | No | 2953 | NM_172313 | ||
| 205 | ENST00000373106.6 | 2 | CCDS413 | Select | protein_coding | 17 | Yes | 3008 | NM_000760 |
| 203 | ENST00000373103.5 | 1 | CCDS414 | protein_coding | 17 | No | 3454 | NM_156039 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in CSF3R
| ID | Year | Title | Journal | PMID | Variants |
|---|