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Relevance to Autism

Several studies have found a genetic association between the ADA gene and autism. Positive associations have been found in Italian and North American population samples.

Molecular Function

The encoded protein catalyzes the hydrolysis of adenosine to inosine.

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References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Autism: evidence of association with adenosine deaminase genetic polymorphism.
ASD
Positive Association
The G22A polymorphism of the ADA gene and susceptibility to autism spectrum disorders.
ASD
Positive Association
Adenosine deaminase alleles and autistic disorder: case-control and family-based association studies.
ASD
Highly Cited
Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity.
Recent Recommendation
Partially adenosine deaminase-deficient mice develop pulmonary fibrosis in association with adenosine elevations.

Rare

No Rare Variants Available

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN002C001 
 missense_variant 
 rs73598374 
 c.22G>A 
 p.Asp8Asn 
 Italian 
 Replication 
 GEN002C002 
 missense_variant 
 rs73598374 
 c.22G>A 
 p.Asp8Asn 
 North American 
 Replication 
 GEN002C003 
 missense_variant 
 rs73598374 
 c.22G>A 
 p.Asp8Asn 
 Italian 
 Discovery 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ADORA2B adenosine A2b receptor 136 P29275 IP/WB
Herrera C 2001
DPP4 dipeptidyl-peptidase 4 1803 P27487 Affinity chromatography; Reversed-phase chromatography (RPC); IP/WB; Peptide mapping
Kameoka J 1993
GRB2 growth factor receptor-bound protein 2 2885 P62993 Y2H; GST; IP/WB
Ramos-Morales F 1997
CDX1 caudal type homeobox 1 12590 P18111 EMSA
Maier EA 2005
CDX2 caudal type homeobox 2 12591 P43241 EMSA
Maier EA 2005
GATA4 GATA binding protein 4 14463 Q08369 EMSA
Dusing MR 2003
NFIC nuclear factor I/C 18029 P70255 EMSA
Maier EA 2005
PDX1 pancreatic and duodenal homeobox 1 18609 P52946 EMSA
Dusing MR 2001
YY1 YY1 transcription factor 22632 Q00899 EMSA
Maier EA 2005
EHMT1 G9a 30971 Q95RU8 ChIP-Seq
Kramer JM 2011
ADORA1 adenosine A1 receptor N/A N/A Affinity chromatography; IP/WB
Ciruela F 1996