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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
Diagnostic exome sequencing in persons with severe intellectual disability.
ID
Epilepsy, ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
Genome-wide characteristics of de novo mutations in autism
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
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.
Highly Cited
The neurotrophin receptor p75NTR as a positive modulator of myelination.
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
 GEN182R001 
 3_prime_UTR_variant 
 T>C 
  
  
  
  
 GEN182R002 
 3_prime_UTR_variant 
 G>C 
  
  
  
  
 GEN182R003 
 synonymous_variant 
 c.2013C>T 
 p.Ala671= 
 De novo 
 NA 
  
 GEN182R004 
 copy_number_loss 
  
  
 Familial 
 Paternal 
 Simplex 
 GEN182R005 
 intron_variant 
 c.249-8635A>G 
  
 De novo 
 NA 
 Simplex 
 GEN182R006 
 missense_variant 
 c.1351G>T 
 p.Val451Phe 
 De novo 
 NA 
 Simplex 

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 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
15
Duplication
 66
  construct
15
Duplication
 1
 
15
Duplication
 1
 
15
Duplication
 1
 
15
Deletion
 1
 
15
Duplication
 1
 
15
Deletion-Duplication
 16
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ACAD10 acyl-CoA dehydrogenase family, member 10 80724 Q6JQN1 IP; LC-MS/MS
Huttlin EL , et al. 2015
APP amyloid beta (A4) precursor protein 351 P05067 ProtoArray
Olh J , et al. 2011
ATP7B ATPase, Cu++ transporting, beta polypeptide 540 B7ZLR4 IP; LC-MS/MS
Huttlin EL , et al. 2015
C1GALT1 core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 56913 Q9NS00 IP; LC-MS/MS
Huttlin EL , et al. 2015
C6ORF120 chromosome 6 open reading frame 120 387263 Q7Z4R8 IP; LC-MS/MS
Huttlin EL , et al. 2015
CXCR4 C-X-C chemokine receptor type 4 7852 P61073-2 IP; LC-MS/MS
Huttlin EL , et al. 2015
DENND4A DENN/MADD domain containing 4A 10260 Q05C90 IP; LC-MS/MS
Huttlin EL , et al. 2015
EFR3A EFR3 homolog A (S. cerevisiae) 23167 Q14156 IP; LC-MS/MS
Huttlin EL , et al. 2015
EHD4 EH-domain containing 4 30844 A8K9B9 IP; LC-MS/MS
Huttlin EL , et al. 2015
EPHA2 EPH receptor A2 1969 P29317 IP; LC-MS/MS
Huttlin EL , et al. 2015
FAM171A2 family with sequence similarity 171, member A2 284069 A8MVW0 IP; LC-MS/MS
Huttlin EL , et al. 2015
GNB2 guanine nucleotide binding protein (G protein), beta polypeptide 2 2783 P62879 IP; LC-MS/MS
Huttlin EL , et al. 2015
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4 59345 Q9HAV0 IP; LC-MS/MS
Huttlin EL , et al. 2015
HEATR6 HEAT repeat containing 6 63897 Q6AI08 IP; LC-MS/MS
Huttlin EL , et al. 2015
HRAS v-Ha-ras Harvey rat sarcoma viral oncogene homolog 3265 P01112 IP; LC-MS/MS
Huttlin EL , et al. 2015
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 3320 P07900 LUMIER with BACON
Taipale M , et al. 2012
INTS7 integrator complex subunit 7 25896 Q9NVH2 IP; LC-MS/MS
Huttlin EL , et al. 2015
IRAK3 interleukin-1 receptor-associated kinase 3 11213 Q9Y616 Y2H
Wang J , et al. 2011
KIAA0391 KIAA0391 9692 O15091 IP; LC-MS/MS
Huttlin EL , et al. 2015
LGALS1 Galectin-1 3956 P09382 IP; LC-MS/MS
Huttlin EL , et al. 2015
MTOR mechanistic target of rapamycin (serine/threonine kinase) 2475 P42345 IP; LC-MS/MS
Huttlin EL , et al. 2015
MYADM myeloid-associated differentiation marker 91663 Q96S97 IP; LC-MS/MS
Huttlin EL , et al. 2015
PAG1 phosphoprotein associated with glycosphingolipid microdomains 1 55824 Q9NWQ8 IP; LC-MS/MS
Huttlin EL , et al. 2015
PLXNA4 plexin A4 91584 Q9HCM2 IP/WB
Yamashita N , et al. 2016
PTCD2 pentatricopeptide repeat domain 2 79810 Q8WV60 IP; LC-MS/MS
Huttlin EL , et al. 2015
PTPRS protein tyrosine phosphatase, receptor type, S 5802 Q13332 IP; LC-MS/MS
Huttlin EL , et al. 2015
RPTOR regulatory associated protein of MTOR, complex 1 57521 Q8N122 IP; LC-MS/MS
Huttlin EL , et al. 2015
SLC39A11 solute carrier family 39 (metal ion transporter), member 11 201266 Q8N1S5 IP; LC-MS/MS
Huttlin EL , et al. 2015
TBC1D24 TBC1 domain family, member 24 57465 Q9ULP9 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM11 transmembrane protein 11 8834 P17152 IP; LC-MS/MS
Huttlin EL , et al. 2015
TMEM192 transmembrane protein 192 201931 Q8IY95 IP; LC-MS/MS
Huttlin EL , et al. 2015
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC , et al. 2011
MET met proto-oncogene 17295 P16056 IP; LC-MS/MS; Proximity ligation assay; IP/WB
Xie Z , et al. 2016

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