adenosine deaminase 2

Summary
Gene Symbol
  • ADA2
Aliases
  • ADGF
Organism
Homo sapiens (human)
NCBI Gene
51816
HGNC
1839
PubChem
51816
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Heparin-binding
  • Hydrolase
  • Metal-binding
  • Proteomics identification
  • Reference proteome
  • Secreted
  • Signal
  • Zinc
Proteins
Displaying all 3 entries
UniProt Protein Name
B4E3Q4
  • Cat eye syndrome critical region protein 1
Q9NZK5
  • Cat eye syndrome critical region protein 1
A0A087X0I3
  • Cat eye syndrome critical region protein 1
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:13096 Sneddon syndrome
The Human Phenotype Ontology
Displaying entries 1 - 10 of 140 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000047 Hypospadias
HP:0000085 Horseshoe kidney
HP:0000104 Renal agenesis
HP:0000112 Nephropathy
HP:0000119 Abnormality of the genitourinary system
HP:0000155 Oral ulcer
HP:0000185 Cleft soft palate
HP:0000218 High palate
HP:0000234 Abnormality of the head
Displaying all 4 entries
Disease ID Disease Name
OMIM:182410
  • Sneddon syndrome
OMIM:615688
  • vasculitis due to ADA2 deficiency
ORPHA:124
  • Diamond-Blackfan anemia
ORPHA:820
  • Sneddon syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025