ADA2 |
- 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
- 0.88(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
ClinGen Curation ID:
CCID:006619
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)