Information on CSF2RB
Basic details
Alt. symbols: IL3RB | IL5RB | CD131 | betaGMR
Approved name: colony stimulating factor 2 receptor subunit beta
Alt. names: colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage), colony stimulating factor 2 receptor beta common subunit | beta common cytokine receptor, beta-GM-CSF receptor
Location: 22q12.3: 36913628 - 36940439 (+)
Gene type: protein_coding, 3 transcripts.
Scores: LoFtool: 0.083200 | pLI: 0.00186665 | LOEUF: 0.441
Normal function
Dysfunction and disease
Surfactant metabolism dysfunction, pulmonary, 5 [MIM:614370] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SMDP5 |
Surfactant metabolism dysfunction, pulmonary, 5 | AR |
614370 |
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 CSF2RB
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 203 | ENST00000406230.5 | protein_coding | 13 | No | 2895 | NM_001410827 | |||
| 202 | ENST00000403662.8 | CCDS13936 | Select | protein_coding | 14 | Yes | 4853 | NM_000395 |
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 CSF2RB
| ID | Year | Title | Journal | PMID | Variants |
|---|