• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ADA2 (HGNC:1839) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
adenosine deaminase 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
IDGFL, CECR1
Alias symbols
ADGF
%HI
85.15(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.07(Read more about gnomAD LOEUF score)
Cytoband
22q11.1
Genomic Coordinates
GRCh37/hg19: chr22:17659680-17702738 NCBI Ensembl UCSC
GRCh38/hg38: chr22:17178790-17221848 NCBI Ensembl UCSC
MANE Select Transcript
NM_001282225.2 ENST00000399837.8 (Read more about MANE Select)
Function
Adenosine deaminase that may contribute to the degradation of extracellular adenosine, a signaling molecule that controls a variety of cellular responses. Requires elevated adenosine levels for optimal enzyme activity. Binds to cell surfaces via proteoglycans and may play a role in the regulation of cell proliferation and differentiation, independently of its enzyme activity. {ECO:0000269|PubMed:20147294, ECO:0000269|PubMed:20453107}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-6094
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:
  • vasculitis due to ADA2 deficiency Monarch
HI Evidence Comments:
Biallelic variants have been reported in individuals with Sneddon Syndrome and Vasculitis, Autoinflammation, Immunodeficiency, and Hematologic Defects Syndrome per OMIM.

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)