• 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
0.18(Read more about gnomAD pLI score)
LOEUF
0.44(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
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)