CSF2RA
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CSF2RA (HGNC:2435) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
colony stimulating factor 2 receptor subunit alpha
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CSF2R
Alias symbols
CD116, alphaGMR
%HI
91.07(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.12(Read more about gnomAD LOEUF score)
Cytoband
Xp22.32 and Yp11.3
Genomic Coordinates
GRCh37/hg19: chrX:1387707-1444111 NCBI Ensembl UCSC
GRCh38/hg38: chrX:1268814-1325218 NCBI Ensembl UCSC
MANE Select Transcript
NM_172245.4 ENST00000381529.9 (Read more about MANE Select)
Function
Low affinity receptor for granulocyte-macrophage colony- stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-15612
ClinGen Curation ID:
CCID:006941
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/23/2021

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • hereditary pulmonary alveolar proteinosis Monarch
HI Evidence Comments:
The CSF2RA gene is localized to the pseuodoautosomal region 1 (PAR) of the X and Y chromosomes, and encodes the alpha subunit of the granulocyte-macrophage colony-stimulating factor (GM-CSF) receptor. Deletions and loss-of-function mutations affecting both copies of CSF2RA are associated with hereditary pulmonary alveolar proteinosis (PAP), a rare lung disorder characterized by the accumulation of surfactant-derived lipoproteins within pulmonary alveoli presenting in early childhood, which often leads to severe respiratory distress or failure. As this gene localizes to PAR1, inheritance is bi-allelic and equivalent to autosomal recessive.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)