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FLASH GENE

Symbol

NTRK2

contributors: mct/shn - updated : 05-07-2016

HGNC name	neurotrophic tyrosine kinase, receptor, type 2
HGNC id	8032

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE58

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   altered in Huntington disease tumoral     --over   in colon cancer possibly plays roles in inhibiting apoptosis, promoting proliferation and invasion, facilitating tumor progression by lymphangiogenesis-associated metastasis tumoral     --over   in disfiguring cutaneous appendageal tumours of CYLD tumoral fusion       NTRK2 is a new gene fusion target in pilocytic astrocytoma (fusion with QKI, FGFR1)

Susceptibility

to autism to Developmental and epileptic encephalopathy (DEE)

Variant & Polymorphism other	alterations in BDNF/NTRK2 signaling contribute to an increased vulnerability to autism
	p.Tyr434Cys variant is located at the beginning of the transmembrane domain of NTRK2 and has been identified in four individuals with DEE

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer     NTRK2 blockade may be a new strategy for transitional cell carcinoma therapy neurology epilepsy   disruption of NTRK2-mediated PLCG1 signaling inhibits limbic epileptogenesis, and is a novel target for specific and effective therapeutic intervention neurology     manipulation of BDNF/TrkB signaling might have therapeutic efficacy in motor neuron diseases neurology     restoration of the physiological level of the TrkB.T1 receptor by gene targeting rescues Ts16 cortical cell and hippocampal neuronal death, corrects resting Ca2+ levels and restores BDNF-induced intracellular signaling in the trisomy 16 mouse model cancer brain glioma/neuroblstoma could be a target for combinatorial treatment of malignant glioma

ANIMAL & CELL MODELS

	knockout of trkB restricted to the mouse forebrain during postnatal development leads to increasingly impaired learning behavior or inappropriate coping responses when facing complex and/or stressful learning paradigms, impairment LTP at CA1 hippocampal synapses
	inhibitory interneurons are strongly affected, express reduced amounts of GABAergic markers and develop reduced numbers of GABAergic boutons and synaptic specializations in cerebellum of TrkB mutant mice
	mouse mutants that expresses the BDNF receptor TrkB at a quarter of the normal amount showed hyperphagia and excessive weight gain on higher-fat diets
	trkB(CaMKII-CRE) mice with a trkB-receptor disruption in the forebrain showed a stereotyped hyper-locomotion with reduced explorative activity, and impulsive reactions to novel stimuli
	in vivo conditional deletion of TrkB from mature motor neurons attenuates mutant superoxide dismutase 1 (SOD1) toxicity