Information on CSF2RA
Alt. symbols: CSF2R | CD116 | alphaGMR
Approved name: colony stimulating factor 2 receptor subunit alpha
Alt. names: colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) | alpha-GM-CSF receptor
Location: Xp22.33: 1268793 - 1325373 (+)
Gene type: protein_coding, 19 transcripts.
Scores: LoFtool: 0.017500 | pLI: 0.00186658 | LOEUF: 1.119
Gene Ontology (GO)
- Molecular function: cytokine receptor activity [GO:0004896]; cytokine binding [GO:0019955]
- Cell component: external side of plasma membrane [GO:0009897]; receptor complex [GO:0043235]
- Biological process: cytokine-mediated signaling pathway [GO:0019221]
Normal function
Dysfunction and disease
Surfactant metabolism dysfunction, pulmonary, 4 [MIM:300770] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SMDP4 |
Surfactant metabolism dysfunction, pulmonary, 4 | XLR |
300770 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of CSF2RA
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 203 | ENST00000381500.6 | CCDS35192 | protein_coding | No | 1283 | NM_001379167,NM_001379168,NM_001379169,NM_172247 | |||
| 218 | ENST00000498153.7 | processed_transcript | No | NM_001161530,NM_001379153,NM_001379154 | |||||
| 204 | ENST00000381509.8 | 3 | CCDS55360 | protein_coding | 13 | No | 1601 | NM_001161531,NM_001379155 | |
| 209 | ENST00000432318.8 | 1 | CCDS35191 | protein_coding | 14 | No | 1940 | NM_001161529 | |
| 202 | ENST00000355805.7 | CCDS35193 | protein_coding | No | 1410 | NM_172249 | |||
| 201 | ENST00000355432.8 | CCDS35190 | protein_coding | No | 1628 | NM_172246 | |||
| 206 | ENST00000381529.9 | CCDS35191 | Select | protein_coding | Yes | 1815 | NM_001161532,NM_001379156,NM_001379158,NM_001379160,NM_001379166,NM_006140,NM_172245 | ||
| 223 | ENST00000711129.1 | protein_coding | No | NM_006140 | |||||
| 225 | ENST00000711131.1 | protein_coding | No | NM_001161529 | |||||
| 229 | ENST00000711138.1 | protein_coding | Yes | NM_001379154 | |||||
| 230 | ENST00000711220.1 | protein_coding | No | NM_001161531 | |||||
| 233 | ENST00000711223.1 | protein_coding | No | NM_172246 | |||||
| 234 | ENST00000711224.1 | protein_coding | No | NM_172249 | |||||
| 236 | ENST00000711226.1 | protein_coding | No | NM_001379167 | |||||
| 221 | ENST00000718261.1 | protein_coding | No | NM_001379161,NM_001379164,NM_001379165 | |||||
| 222 | ENST00000718262.1 | protein_coding | No | NM_001379159,NM_001379162,NM_001379163 | |||||
| 243 | ENST00000850690.1 | protein_coding | No | NM_001379164 | |||||
| 244 | ENST00000850691.1 | protein_coding | No | NM_001379163 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) 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 | - | NM_006140.4: EX3-13 (>98%) |
| - | 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. |
| - | Skewed X-linked inactivation | - | 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 CSF2RA
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|