TPH2
Homo sapiens
Gene Name: tryptophan hydroxylase 2
Aliases: NTPH, FLJ37295
Chromosome No: 12
Chromosome Band: 12q21.1
Genetic Category: Genetic Association-Rare Single Gene variant, Genetic Association-Rare single gene variant-Functional
Aliases: NTPH, FLJ37295
Chromosome No: 12
Chromosome Band: 12q21.1
Genetic Category: Genetic Association-Rare Single Gene variant, Genetic Association-Rare single gene variant-Functional
Summary Statistics:
ASD Reports: 16
Recent Reports: 3
Annotated variants: 12
Associated CNVs: 5
Evidence score: 2
ASD Reports: 16
Recent Reports: 3
Annotated variants: 12
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the TPH2 gene and autism in a Caucasian (from US and Italy) population cohort (Coon et al., 2005). However, other studies have found no genetic association between the TPH2 gene and autism in Italian, Caucasian-American and other population cohorts. Separately, genetic association has been found between the TPH2 gene and unipolar major depression in a US population cohort.
Molecular Function
The encoded protein has tryptophan 5-monooxygenase activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2).
ASD
Positive Association
Genetic association and gene-gene interaction analyses suggest likely involvement of ITGB3 and TPH2 with autism spectrum disorder (ASD) in the Indi...
ASD
Positive Association
Association with tryptophan hydroxylase 2 gene polymorphisms and autism spectrum disorders in Korean families.
ASD
Negative Association
A detailed association analysis between the tryptophan hydroxylase 2 (TPH2) gene and autism spectrum disorders in a Japanese population.
ASD
Negative Association
Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1.
ASD
Negative Association
No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects.
ASD
OCD, Affective disorders
Support
Socio-affective communication in Tph2-deficient rat pups: communal nesting aggravates growth retardation despite ameliorating maternal affiliation deficits
ASD
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD, ID
Support
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Distur
ASD
DD, ID
Support
Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
ASD
Support
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
ASD
Highly Cited
Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression.
UP
Recent Recommendation
Functional domains of human tryptophan hydroxylase 2 (hTPH2).
Recent Recommendation
Tryptophan hydroxylase-2 gene polymorphisms in rhesus monkeys: association with hypothalamic-pituitary-adrenal axis function and in vitro gene expr...
Recent Recommendation
Additive effects of serotonin transporter and tryptophan hydroxylase-2 gene variation on emotional processing.
