HTR7
Homo sapiens
Gene Name: 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)
Aliases:
Chromosome No: 10
Chromosome Band: 10q23.31
Genetic Category: Genetic Association-Rare single gene variant
Aliases:
Chromosome No: 10
Chromosome Band: 10q23.31
Genetic Category: Genetic Association-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 2
Evidence score: 2
ASD Reports: 5
Recent Reports: 1
Annotated variants: 6
Associated CNVs: 2
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Possible genetic association has been found between the HTR7 gene and autism in a study of a small US cohort, although the variant was not found to be significant in a TDT test (Lassig et al., 1999). Significantly, genetic association has been found between the HTR7 gene and schizophrenia in a Japanese population cohort (Ikeda et al., 2006).
Molecular Function
The encoded protein is a serotonin receptor.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Physical mapping of the serotonin 5-HT(7) receptor gene (HTR7) to chromosome 10 and pseudogene (HTR7P) to chromosome 12, and testing of linkage dis...
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Epilepsy
Highly Cited
Genetic association analysis of serotonin system genes in bipolar affective disorder.
BPD
Recent Recommendation
Positive association of the serotonin 5-HT7 receptor gene with schizophrenia in a Japanese population.
SCZ
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN131R004
missense_variant
c.836C>T
p.Pro279Leu
Familial
Extended multiplex (at least one pair of ASD affec
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
