IL2RA |
- 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(Read more about gnomAD pLI score)
- LOEUF
- 0.91(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
ClinGen Curation ID:
CCID:007325
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)