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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.

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
Support
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
DD
Hyperactivity, hypotonia
Support
Integrating de novo and inherited variants in 42
ASD
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
 GEN181R001a 
 splice_site_variant 
  
 p.? 
 Familial 
 Both parents 
 Simplex 
 GEN181R001b 
 missense_variant 
  
 p.Arg85Ser 
 Familial 
 Both parents 
 Simplex 
 GEN181R002a 
 frameshift_variant 
 delA 
 p.Asn67fs 
 Familial 
 Both parents 
 Multiplex 
 GEN181R003a 
 missense_variant 
 c.1837C>T 
 p.Arg613Trp 
 Familial 
 Both parents 
 Simplex 
 GEN181R004a 
 splice_site_variant 
 G>A 
 p.? 
 Familial 
 Both parents 
 Multiplex 
 GEN181R005a 
 stop_gained 
 c.25C>T 
 p.Gln9Ter 
 Familial 
 Both parents 
 Simplex 
 GEN181R005b 
 missense_variant 
  
 His598Tyr 
 Familial 
 Both parents 
 Simplex 
 GEN181R005c 
 missense_variant 
  
 Gly607Val 
 Familial 
 Both parents 
 Simplex 
 GEN181R006a 
 missense_variant 
 c.2032G>A 
 p.Gly678Ser 
 Unknown 
  
 Simplex 
 GEN181R007a 
 missense_variant 
 c.638T>C 
 p.Leu213Pro 
 Familial 
 Maternal 
 Simplex 
 GEN181R007b 
 frameshift_variant 
 c.1009_1015del 
 p.Phe337ArgfsTer95 
 Familial 
 Paternal 
 Simplex 
 GEN181R008a 
 stop_gained 
 c.526C>T 
 p.Gln176Ter 
 Familial 
 Both parents 
  
 GEN181R009 
 splice_region_variant 
 c.360-4G>T 
  
 De novo 
  
  

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 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Duplication
 44
 
1
Duplication
 1
 
1
Deletion-Duplication
 11
 
1
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 3320 P07900 LUMIER with BACON
Taipale M , et al. 2012
PLXNA4 plexin A4 91584 Q9HCM2 IP/WB; Co-localization
Yamashita N , et al. 2016

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