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Relevance to Autism

Genetic association has been found between the CNR1 gene and striatal response to happy faces in a Caucasian cohort (Chakrabarti et al., 2006).

Molecular Function

The encoded protein has cannabinoid receptor activity.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Variations in the human cannabinoid receptor (CNR1) gene modulate striatal responses to happy faces.
striatal responses to happy faces
ASD
Support
Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Highly Cited
Unresponsiveness to cannabinoids and reduced addictive effects of opiates in CB1 receptor knockout mice.
Highly Cited
Presynaptically located CB1 cannabinoid receptors regulate GABA release from axon terminals of specific hippocampal interneurons.
Recent Recommendation
Experimental febrile seizures are precipitated by a hyperthermia-induced respiratory alkalosis.
Recent Recommendation
Cannabinoid receptor type 1 located on presynaptic terminals of principal neurons in the forebrain controls glutamatergic synaptic transmission.
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN049R001 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN049R002 
 copy_number_gain 
  
  
 Unknown 
  
 Simplex 
 GEN049R003 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN049R004 
 copy_number_gain 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN049R005 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Simplex 
 GEN049R006 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN049R007 
 copy_number_gain 
  
  
 Familial 
 Maternal 
 Multiplex 
 GEN049R008 
 missense_variant 
 c.1357A>G 
 p.Thr453Ala 
 Unknown 
  
  
 GEN049R009 
 missense_variant 
 c.1348A>G 
 p.Ile450Val 
 Unknown 
  
  
 GEN049R010 
 missense_variant 
 c.1306G>A 
 p.Ala436Thr 
 Unknown 
  
  
 GEN049R011 
 missense_variant 
 c.1278G>T 
 p.Met426Ile 
 Unknown 
  
  
 GEN049R012 
 missense_variant 
 c.1256C>A 
 p.Ala419Glu 
 Unknown 
  
  
 GEN049R013 
 missense_variant 
 c.1256C>A 
 p.Ala419Glu 
 Unknown 
  
  
 GEN049R014 
 missense_variant 
 c.1256C>A 
 p.Ala419Glu 
 Unknown 
  
  
 GEN049R015 
 missense_variant 
 c.1256C>A 
 p.Ala419Glu 
 Unknown 
  
  
 GEN049R016 
 missense_variant 
 c.1256C>A 
 p.Ala419Glu 
 Unknown 
  
  
 GEN049R017 
 missense_variant 
 c.1225C>T 
 p.Arg409Trp 
 Unknown 
  
  
 GEN049R018 
 missense_variant 
 c.1015A>G 
 p.Ile339Val 
 Unknown 
  
  
 GEN049R019 
 missense_variant 
 c.916G>A 
 p.Val306Ile 
 Unknown 
  
  
 GEN049R020 
 missense_variant 
 c.745G>A 
 p.Val249Met 
 Unknown 
  
  
 GEN049R021 
 missense_variant 
 c.725C>T 
 p.Thr242Ile 
 Unknown 
  
  
 GEN049R022 
 missense_variant 
 c.622T>C 
 p.Phe208Leu 
 Unknown 
  
  
 GEN049R023 
 missense_variant 
 c.581G>C 
 p.Gly194Ala 
 Unknown 
  
  
 GEN049R024 
 missense_variant 
 c.443G>A 
 p.Arg148His 
 Unknown 
  
  
 GEN049R025 
 missense_variant 
 c.277G>A 
 p.Glu93Lys 
 Unknown 
  
  
 GEN049R026 
 missense_variant 
 c.277G>A 
 p.Glu93Lys 
 Unknown 
  
  
 GEN049R027 
 missense_variant 
 c.169C>G 
 p.Pro57Ala 
 Unknown 
  
  
 GEN049R028 
 missense_variant 
 c.80A>G 
 p.Asp27Gly 
 Unknown 
  
  
 GEN049R029 
 missense_variant 
 c.20G>A 
 p.Gly7Asp 
 Unknown 
  
  
 GEN049R030 
 missense_variant 
 c.871G>A 
 p.Val291Met 
 De novo 
  
  
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
6
Deletion
 1
 
6
Deletion
 1
 
6
Deletion
 3
 
6
Deletion
 1
 
6
Deletion
 1
 
6
Deletion
 1
 
6
Deletion-Duplication
 16
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 3356 P28223 Bioluminescence resonance energy transfer assay; bimolecular fluorescence complementation assay; Proximity ligation assay
Vials X , et al. 2015

HTR2A
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