• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
IL2RA (HGNC:6008) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
interleukin 2 receptor subunit alpha
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
IL2R, IDDM10
Alias symbols
CD25
%HI
67.75(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.05(Read more about gnomAD pLI score)
LOEUF
0.66(Read more about gnomAD LOEUF score)
Cytoband
10p15.1
Genomic Coordinates
GRCh37/hg19: chr10:6052652-6104330 NCBI Ensembl UCSC
GRCh38/hg38: chr10:6010689-6062367 NCBI Ensembl UCSC
MANE Select Transcript
NM_000417.3 ENST00000379959.8 (Read more about MANE Select)
Function
Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells. {ECO:0000269|PubMed:23416241, ECO:0000269|PubMed:24116927}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-9903
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:
  • immunodeficiency due to CD25 deficiency Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)