CSF2RB |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CSF2RB (HGNC:2436) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- colony stimulating factor 2 receptor subunit beta
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- IL3RB
- Alias symbols
- IL5RB, CD131, betaGMR
- %HI
- 89.46(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.93(Read more about gnomAD pLI score)
- LOEUF
- 0.51(Read more about gnomAD LOEUF score)
- Cytoband
- 22q12.3
- Genomic Coordinates
-
GRCh37/hg19: chr22:37309670-37336481 NCBI Ensembl UCSC GRCh38/hg38: chr22:36913628-36940439 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000395.3 ENST00000403662.8 (Read more about MANE Select)
- Function
- Cell surface receptor that plays a role in immune response and controls the production and differentiation of hematopoietic progenitor cells into lineage-restricted cells. Acts by forming an heterodimeric receptor through interaction with different partners such as IL3RA, IL5RA or CSF2RA (PubMed:1495999). In turn, participates in various signaling pathways including interleukin-3, interleukin-5 and granulocyte-macrophage colony-stimulating factor/CSF2 pathways. In unstimulated conditions, intera... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-20780
ClinGen Curation ID:
CCID:006942
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- surfactant metabolism dysfunction, pulmonary, 5 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000022.10)
(NC_000022.11)