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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.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
ASD
Positive Association
ASD
Positive Association
ASD
Highly Cited
Recent Recommendation

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
Null
DPP4 dipeptidyl-peptidase 4 1803 P27487 Affinity chromatography; Reversed-phase chromatography (RPC); IP/WB; Peptide mapping
Null
GRB2 growth factor receptor-bound protein 2 2885 P62993 Y2H; GST; IP/WB
Null
CDX1 caudal type homeobox 1 12590 P18111 EMSA
Null
CDX2 caudal type homeobox 2 12591 P43241 EMSA
Null
GATA4 GATA binding protein 4 14463 Q08369 EMSA
Null
NFIC nuclear factor I/C 18029 P70255 EMSA
Null
PDX1 pancreatic and duodenal homeobox 1 18609 P52946 EMSA
Null
YY1 YY1 transcription factor 22632 Q00899 EMSA
Null
EHMT1 G9a 30971 Q95RU8 ChIP-Seq
Null
ADORA1 adenosine A1 receptor N/A N/A Affinity chromatography; IP/WB
Null