NTRK3
Homo sapiens
Gene Name: neurotrophic tyrosine kinase, receptor, type 3
Aliases: TRKC; gp145(trkC); NTRK3
Chromosome No: 15
Chromosome Band: 15q25.3
Genetic Category: Rare Single Gene variant, Genetic Association-Syndromic-Rare single gene variant-Genetic association
Aliases: TRKC; gp145(trkC); NTRK3
Chromosome No: 15
Chromosome Band: 15q25.3
Genetic Category: Rare Single Gene variant, Genetic Association-Syndromic-Rare single gene variant-Genetic association
Summary Statistics:
ASD Reports: 15
Recent Reports: 4
Annotated variants: 11
Associated CNVs: 7
Evidence score: 2
ASD Reports: 15
Recent Reports: 4
Annotated variants: 11
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the NTRK3 gene and both autism and Asperger syndrome (Chakrabarti et al., 2009). In addition, rare mutations NTRK3 have been found to be associated with panic disorder, and NTRK3 has been found to have genetic association with obsessive-compulsive disorder (Muios-Gimeno et al., 2009).
Molecular Function
A membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.
ASD
Asperger syndrome
Positive Association
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
ASD, ADHD, BPD, MDD, SCZ
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Diagnostic exome sequencing in persons with severe intellectual disability.
ID
Epilepsy, ASD
Highly Cited
The neurotrophin receptor p75NTR as a positive modulator of myelination.
Highly Cited
Severe sensory and sympathetic deficits in mice lacking neurotrophin-3.
Highly Cited
Disruption of the neurotrophin-3 receptor gene trkC eliminates la muscle afferents and results in abnormal movements.
Highly Cited
trkC, a new member of the trk family of tyrosine protein kinases, is a receptor for neurotrophin-3.
Recent Recommendation
Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder.
Recent Recommendation
Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders.
OCD
PD
Recent Recommendation
Neurotrophic factor-related gene polymorphisms and adult attention deficit hyperactivity disorder (ADHD) score in a high-risk male population.
Recent Recommendation
Gene expression patterns in brain cortex of three different animal models of depression.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN182C001
intron_variant, 3_prime_UTR_variant
rs28521337
c.*1296G>C;c.1586-37296G>C;c.1562-37296G>C;c.1292-37296G>C;c.455-37296G>C
C/G
Spanish
Discovery
GEN182C002
intron_variant
rs920069
c.1716+1044C>T;c.1692+1044C>T;c.1422+1044C>T;c.585+1044C>T
G/A
Caucasian
Discovery
GEN182C003
intron_variant
rs1369430
c.2134-1803C>T;c.2110-7110C>T;c.2134-7110C>T;c.2209-7110C>T;c.1003-7110C>T
A/G
Caucasian
Discovery
GEN182C004
intron_variant
rs1104918
c.395+2937A>C;c.101+2937A>C
T/G
Pyschiatrics Genomic Consortium (PGC): 33,332 cases (with ASD, ADHD, bipolar disorder, major depressive disorder, and schizophrenia) and 27,888 controls
Discovery
