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Relevance to Autism

Genetic association has been found between the ADORA2A gene and autism in a Caucasian sample (Freitag et al., 2010).

Molecular Function

The encoded protein is a receptor subtypes for adenosine

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Adenosine A(2A) receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder.
ASD
22q11.2 deletion syndrome
Highly Cited
Aggressiveness, hypoalgesia and high blood pressure in mice lacking the adenosine A2a receptor.
Highly Cited
Evidence for functionally important adenosine A2a receptors in the rat hippocampus.
Recent Recommendation
Adenosine A2A receptors are essential for long-term potentiation of NMDA-EPSCs at hippocampal mossy fiber synapses.
Recent Recommendation
The A2A adenosine receptor rescues the urea cycle deficiency of Huntington's disease by enhancing the activity of the ubiquitin-proteasome system.
Recent Recommendation
FGF acts as a co-transmitter through adenosine A(2A) receptor to regulate synaptic plasticity.
Recent Recommendation
The 2.6 angstrom crystal structure of a human A2A adenosine receptor bound to an antagonist.

Rare

No Rare Variants Available

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN003C001 
 intron_variant 
 rs2298383 
 c.-275+1797C>T;c.-275+1817C>T;c.-274-3588C>T 
 C to T 
 Caucasian 
 Discovery 
 GEN003C002 
 intron_variant 
 rs2236624 
 c.333-527T>C 
 C to T 
 Caucasian 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
22
Duplication
 1
 
22
Deletion-Duplication
 111
  construct
22
Deletion-Duplication
 14
 
22
Duplication
 2
 
22
Deletion-Duplication
 26
 
22
Duplication
 13
 
22
Deletion-Duplication
 33
 

Model Summary

A2A receptors play a prominent role in the development of ischemic injury within brain and demonstrate the potential for anatomical and functional neuroprotection against stroke by A2A receptor antagonists.

References

Type
Title
Author, Year
Primary
A(2A) adenosine receptor deficiency attenuates brain injury induced by transient focal ischemia in mice.
Additional
A crucial role for forebrain adenosine A(2A) receptors in amphetamine sensitization.

M_ADORA2A_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Gene targeting vector disrupting a critical stretch of nucleotides at the junction of exon 2 and it's 3' intron.
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6
Genetic Background: C57BL/6, 129/SvEvTac
ES Cell Line: 129/SvJae
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_ADORA2A_2_CKO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Conditional deletion of introns flanking critical exon 2 of Adora2a using CamkII-cre, in excitatory neurons of the forebrain
Allele Type: Conditional loss-of-function
Strain of Origin: Not Specified
Genetic Background: 129-Steel, C57B1/6
ES Cell Line: L7ag13
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_ADORA2A_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Brain anatomy1
Decreased
Description: Decreased total infarct value; decreased ischemic lesion volume; decreased infarctions in cereberal cortex and striatum
Exp Paradigm: Hematoxylin and eosin (h&e) staining with volumetric analysis; staining of sections with ttc, a marker of intact cellular metabolism
 Histology
 Unreported
Developmental trajectory1
Decreased
Description: Decreased signs of neurological deficit after mca occlusion
Exp Paradigm: Neurological deficit scoring
 Neurological exam battery
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased a2a receptor expression demonstrated by lack of binding of agonist 3h-cgs 21680
Exp Paradigm: A2a receptor expression
 Autoradiographic analysis
 Unreported
Cardiovascular development and function1
 No change
 Heart rate measurement
 Unreported
Cardiovascular development and function1
 No change
 Blood pressure measurement
 Unreported
General characteristics1
 No change
 General observations
 Unreported
Size/growth1
 No change
 General observations
 Unreported
General locomotor activity1
 No change
 Open field test
 Unreported
Brain morphology1
 No change
 Immunohistochemistry
 Unreported
Homeostasis1
 No change
 Ph/blood gas analyzer and thermometer
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_ADORA2A_2_CKO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Decreased
Description: Decreased sensitization of locomotor activity
Exp Paradigm: Open field test after daily administration of amphetamine (2.5 mg/kg) and sch58261 (0.03 mg/kg, ip) or kw-6002 (0.03 mg/kg, ip)
 Open field test
 Unreported
General locomotor activity1
Decreased
Description: Decreased locomotor activity in response to selective a2a antagonist
Exp Paradigm: Open field test after administration of antagonist kw-6002 (3 mg/kg, i.p.)
 Open field test
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased binding of receptor to characteristic ligand in striatum
Exp Paradigm: A2a receptor expression
 Autoradiographic analysis
 Unreported
Protein expression level evidence1
Decreased
Description: Decreased a2a receptor gene expression in frontal cortex and striatum
Exp Paradigm: A2a receptor gene expression
 Polymerase chain reaction (pcr)
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download ADORA2A's Cytoscape file


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