NTRK1
Homo sapiens
Gene Name: neurotrophic tyrosine kinase, receptor, type 1
Aliases: MTC; TRK; TRK1; TRKA; p140-TrkA; DKFZp781I14186
Chromosome No: 1
Chromosome Band: 1q23.1
Genetic Category: Rare Single Gene variant--Syndromic
Aliases: MTC; TRK; TRK1; TRKA; p140-TrkA; DKFZp781I14186
Chromosome No: 1
Chromosome Band: 1q23.1
Genetic Category: Rare Single Gene variant--Syndromic
Summary Statistics:
ASD Reports: 9
Recent Reports: 3
Annotated variants: 15
Associated CNVs: 4
Evidence score: 2
ASD Reports: 9
Recent Reports: 3
Annotated variants: 15
Associated CNVs: 4
Evidence score: 2
Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the NTRK1 gene and both autism and Asperger syndrome (Chakrabarti et al., 2009). In addition, rare NTRK1 (TRKA) mutations have been found in association with congenital insensitivity to pain with anhidrosis (CIPA) (Mardy et al., 1999).
Molecular Function
A membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway.
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
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
DD
Hyperactivity, hypotonia
Highly Cited
Death of oligodendrocytes mediated by the interaction of nerve growth factor with its receptor p75.
Highly Cited
Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene.
Highly Cited
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
CIPA
Recent Recommendation
CCM2 mediates death signaling by the TrkA receptor tyrosine kinase.
Recent Recommendation
A model for neuronal competition during development.
Recent Recommendation
LIG family receptor tyrosine kinase-associated proteins modulate growth factor signals during neural development.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN181R003a
missense_variant
c.1837C>T
p.Arg613Trp
Familial
Both parents
Simplex
GEN181R007b
frameshift_variant
c.1009_1015del
p.Phe337ArgfsTer95
Familial
Paternal
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN181C001
synonymous_variant
rs6337
c.1779C>T;c.1869C>T;c.1887C>T;c.1956C>T
p.(=)
Caucasian
Discovery
GEN181C002
missense_variant
rs6339
c.1730G>T;c.1820G>T;c.1838G>T;c.1907G>T
T to G
Caucasian
Discovery