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Relevance to Autism

Possible genetic association has been found between the HTR2A gene and autism in a US population cohort, although none were significant in a TDT test (Veenstra-VanderWeele et al., 2002).

Molecular Function

The encoded protein is a serotonin receptor.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Transmission disequilibrium studies of the serotonin 5-HT2A receptor gene (HTR2A) in autism.
ASD
Positive Association
Serotonin receptor gene (HTR2A) T102C polymorphism modulates individuals' perspective taking ability and autistic-like traits.
ALTs
Positive Association
Family-based clinical associations and functional characterization of the serotonin 2A receptor gene (HTR2A) in autism spectrum disorder.
ASD
Positive Association
Candidate gene associations with withdrawn behavior.
Withdrawn behavior
Positive Association
5-HT2A receptor gene polymorphisms in Croatian subjects with autistic disorder.
ASD
Negative Association
Association study in siblings and case-controls of serotonin- and oxytocin-related genes with high functioning autism.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Highly Cited
Association between clozapine response and allelic variation in 5-HT2A receptor gene.
Recent Recommendation
Cortical serotonin 5-HT2A receptor binding and social communication in adults with Asperger's syndrome: an in vivo SPECT study.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN128R001 
 3_prime_UTR_variant 
 C>T 
  
 Unknown 
  
 Unknown 
 GEN128R002 
 frameshift_variant 
 c.721del 
 p.Val241CysfsTer7 
 Familial 
 Paternal 
 Multiplex 
 GEN128R003 
 synonymous_variant 
 c.282C>T 
 p.Leu94%3D 
 De novo 
  
  

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN128C001 
 intron_variant 
 rs2070040 
 c.413-901C>T;c.161-901C>T 
  
 US 
 Discovery 
 GEN128C002 
 intron_variant 
 rs2070039 
 c.413-470T>A;c.161-470T>A 
  
 US 
 Discovery 
 GEN128C003 
 intron_variant 
 rs2070038 
 c.413-405A>G;c.161-405A>G 
  
 US 
 Discovery 
 GEN128C004 
 intron_variant 
 rs2070037 
 c.413-345A>G;c.161-345A>G 
  
 US 
 Discovery 
 GEN128C005 
 intron_variant 
 rs2070036 
 c.413-225A>C;c.161-225A>C 
  
 US 
 Discovery 
 GEN128C006 
 intron_variant 
 rs2070035 
 c.613+76T>G;c.361+76T>G 
  
 US 
 Discovery 
 GEN128C007 
 missense_variant 
 rs6314 
 c.1354C>T;c.1102C>T 
 p.His452Tyr;p.His368Tyr 
 551 individuals from 187 families from US 
 Discovery 
 GEN128C008 
 2KB_upstream_variant 
 rs6311 
 c.-998G>A;c.-510G>A 
 -1438 A/G 
 103 autistic and 214 control subjects from Croatia 
 Discovery 
 GEN128C009 
 2KB_upstream_variant 
 rs6311 
 c.-998G>A;c.-510G>A 
 A/G 
 158 unrelated ASD trios (124 simplex, 34 multiplex) recruited through CORA; 63% Caucasian 
 Replication 
 GEN128C010 
 synonymous_variant 
 rs6313 
 c.102C>T 
 p.(=) 
 523 Han Chinese subjects (388 females, mean age 24.3 1.4 years) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
13
Deletion
 1
 
13
Duplication
 1
 
13
N/A
 1
 
13
Deletion
 1
 
13
Duplication
 2
 
13
Deletion
 1
 
13
Duplication
 1
 
13
Duplication
 1
 
13
Duplication
 1
 
13
Deletion
 1
 
13
Deletion
 1
 
13
Deletion
 1
 
13
Duplication
 1
 
13
Deletion
 1
 
13
Duplication
 1
 
13
Deletion-Duplication
 13
 

Model Summary

Indicate a specific role for cortical 5HT2AR function in the modulation of conflict anxiety, consistent with models of cortical, top-down influences on risk assessment.

References

Type
Title
Author, Year
Primary
Cortical 5-HT2A receptor signaling modulates anxiety-like behaviors in mice.
Additional
Altered neocortical cell density and layer thickness in serotonin transporter knockout mice: a quantitation study.

M_HTR2A_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Insertion of neo-resistance gene between two loxP sites in the 5' untranslated region of the first 2 exons of Htr2a gene leading to block of transcription and translation.
Allele Type: Targeted (Knock Out)
Strain of Origin: 129S6/SvEv
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_HTR2A_2_CN_KI_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Cortex specific Cre-loxP mediated removal of inserted mutation to restore Htr2a activity.
Allele Type: Knock In (Conditional)
Strain of Origin: 129S6/SvEv
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_HTR2A_3_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: .
Allele Type: Targeted (Knock Out)
Strain of Origin: c129-CD1-C57BL/6J
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_HTR2A_4_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: .
Allele Type: Targeted (Knock Out)
Strain of Origin: C57BL/6J
Genetic Background: Not Specified
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_HTR2A_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Miniature post synaptic currents: excitatory1
Increased
Description: Increased spontaneous excitatory postsnyaptic current frequency
Exp Paradigm: Whole-cell recordings of layer v pyramidal neurons in cortical slices
 Whole-cell patch clamp
 Unreported
Anxiety1
Decreased
Description: Decreased anxiety demonstrated by increased time spent in open arms of test apparatus
Exp Paradigm: Elevated plus maze test
 Elevated plus maze test
 3-6 months
Anxiety1
Decreased
Description: Decreased anxiety demonstrated by increased exploring of lit compartment
Exp Paradigm: Dark-light choice test
 Light-dark exploration test
 3-6 months
Anxiety1
Decreased
Description: Decreased anxiety demonstrated by increased exploring of environment and increased rearing
Exp Paradigm: Open field test
 Open field test
 3-6 months
Anxiety1
Decreased
Description: Decreased anxiety demonstrated by decreased latency to begin feeding in novel environments
Exp Paradigm: Novelty-suppressed feeding paradigm
 Novelty-induced hypophagia
 3-6 months
Depression1
 No change
 Forced swim test
 3-6 months
Depression1
 No change
 Tail suspension test
 3-6 months
Cued or contextual fear conditioning1
 No change
 Fear conditioning test
 Unreported
Gene expression1
 No change
 Quantitative pcr (qrt-pcr)
 Unreported
Neuronal number: purkinje cells1
 No change
 Histology
 Unreported
Intrinsic membrane properties1
 No change
 Whole-cell patch clamp
 Unreported
Hormone levels1
 No change
 High-performance liquid chromatography (hplc)
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Maternal behavior, Motor phenotype, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_HTR2A_2_CN_KI_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Anxiety1
 No change
 Light-dark exploration test
 3-6 months
Anxiety1
 No change
 Novelty-induced hypophagia
 3-6 months
Anxiety1
 No change
 Open field test
 3-6 months
Depression1
 No change
 Forced swim test
 3-6 months
Depression1
 No change
 Tail suspension test
 3-6 months
Intrinsic membrane properties1
 No change
 Whole-cell patch clamp
 Unreported
Miniature post synaptic currents: excitatory1
 No change
 Whole-cell patch clamp
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_HTR2A_3_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Cortical thickness1
Decreased
Description: Decreased neocortical and primary visual cortex thickness - reduction in overall layer iv thickness of s1 region
Exp Paradigm: Immunohistochemistry
 Immunohistochemistry
 Unreported
Size/growth1
 No change
 General observations
 Unreported
Brain size1
 No change
 NA
 Unreported
Cortical thickness1
 No change
 Immunohistochemistry
 Unreported
Neuronal number: purkinje cells1
 No change
 Immunohistochemistry
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior

M_HTR2A_4_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Neuronal number: purkinje cells1
Increased
Description: Increased neronal density throughout the neocortex, primary motor, somatosensory cortices and retrosplenial areas
Exp Paradigm: Immunohistochemistry
 Immunohistochemistry
 Unreported
Cortical thickness1
Increased
Description: Increased cortical thickness in s1 areas including jaw, frontal forelimb, barrel field and retrosplenial granular cortex
Exp Paradigm: Immunohistochemistry
 Immunohistochemistry
 Unreported
Cortical thickness1
Decreased
Description: Decreased layer iv thickness in s1 somatosensory cortical area
Exp Paradigm: Immunohistochemistry
 Immunohistochemistry
 Unreported
Size/growth1
Decreased
Description: Slight decrease in mean body weight
Exp Paradigm: General observations
 General observations
 Unreported
Brain size1
 No change
 NA
 Unreported
Cortical thickness1
 No change
 Immunohistochemistry
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download HTR2A's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
CNR1 cannabinoid receptor 1 (brain) 1268 P21554 Bioluminescence resonance energy transfer assay; bimolecular fluorescence complementation assay; Proximity ligation assay
Vials X , et al. 2015
GRM2 glutamate metabotropic receptor 2 2912 Q14416 IP/WB; FRET
Moreno JL , et al. 2016
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 3356 P28223 FRET
Moreno JL , et al. 2016

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