Gene: NTRK2

Alternate names for this Gene: DEE58|EIEE58|GP145-TrkB|OBHD|TRKB|trk-B

Gene Summary: This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene have been associated with obesity and mood disorders. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 9

Location in Chromosome : 9q21.33

Description of this Gene: neurotrophic receptor tyrosine kinase 2

Type of Gene: protein-coding

rs1187352 in NTRK2 gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1211166 in NTRK2 gene and Body mass index procedure PMID 23001569 2013 At an array-wide significance (P < 2.40E-06), we identify novel BMI associations in loci translocase of outer mitochondrial membrane 40 homolog (yeast) - apolipoprotein E - apolipoprotein C-I (TOMM40-APOE-APOC1) (rs2075650, P = 2.95E-10), sterol regulatory element binding transcription factor 2 (SREBF2, rs5996074, P = 9.43E-07) and neurotrophic tyrosine kinase, receptor, type 2 [NTRK2, a brain-derived neurotrophic factor (BDNF) receptor gene, rs1211166, P = 1.04E-06] in the Phase IV meta-analysis.

rs1573219 in NTRK2 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 31118516 2019 Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

rs1211166 in NTRK2 gene and Finding of body mass index PMID 23001569 2013 Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

rs1554774973 in NTRK2 gene and Obesity, Hyperphagia, and Developmental Delay PMID 27884935 2017 Diagnostic value of exome and whole genome sequencing in craniosynostosis.

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 15494731 2004 A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

rs2291506 in NTRK2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.