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FLASH GENE

Symbol

NTRK3

contributors: mct/ - updated : 01-04-2016

HGNC name	neurotrophic tyrosine kinase, receptor, type 3
HGNC id	8033

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two ig-like C2-type (immunoglobulin-like) domains
	two LRR (leucine-rich) repeats

HOMOLOGY

Homologene

FAMILY	TYR protein kinase family
	insulin receptor subfamily

CATEGORY

enzyme , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	type I membrane protein

basic FUNCTION	involved in the survival and differentiation of nervous system and heart
	mediating neurotrophin-3-stimulated cell proliferation
	NTRK3-mediated signaling is involved hair follicle biology
	may be playing a role in the pathophysiology of anxiety disorders
	influences hippocampal function and may modify the risk for schizophrenia
	NTRK1 and NTRK3, respectively) instruct developing neurons to die
	NTRK3 functions potentially as a dependence receptor that is frequently down-regulated in colorectal malignancies
	is a colorectal cancer tumor suppressor
	physiological role for NTRK3 in the pathogenesis of leukemia
	in the absence of NTF3, the proteolytic cleavage of NTRK3 leads to the release of a killer fragment that triggers mitochondria-dependent apoptosis via the recruitment of COBRA1
	neurotrophin signaling via NTRK2 and NTRK3 promotes the growth of brain tumor-initiating cells

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

nervous system

text	key regulator of cell fate and cell shape in CNS

PATHWAY

metabolism

signaling

signal transduction

mediating BDNF signaling to sensory neurons

a component

INTERACTION

DNA

RNA

small molecule

protein	binding neurotrophins (NTF3, NTF4), receptor of NTF3, NTF4
	novel regulatory relationship between the NTRK3 gene and the transcription factor SOX2
	LRP1-dependent cell signaling that includes NTRK3 activation promotes axonal growth in the CNS
	is a dependence receptor, and, as such, it triggers apoptosis in the absence of its ligand, NTF3
	COBRA1 is required for NTRK3-induced apoptosis
	RUNX3 may play a crucial role in the development of Dorsal root ganglion (DRG) by regulating the expression of NTRK3 variants
	LINGO1 functions as a negative feedback regulator of signaling by cognate receptor tyrosine kinases including NTRK1, NTRK2 and NTRK3

cell & other

REGULATION

Other

regulated by miRNAs (key posttranscriptional regulators of NTRK3 and allele-specific miRNA regulation of NTRK3 in anxiety disorders)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     acquired translocation t(12;15)(p13;q25) in congenital mesoblastic nephroma (CMN), and in tumour development tumoral fusion translocation   protein chimeric acquired t(12;15)(p13;q25) leading to a ETV6-NTRK3 gene fusion in congenital or infantile fibrosarcoma, in pediatric spindle cell sarcomas and secretory breast carcinoma tumoral somatic mutation       in breast, lung, and pancreatic cancers tumoral     --over   in medulloblastomas, identified as a powerful independent predictor of favorable survival outcome tumoral     --over   in disfiguring cutaneous appendageal tumours of CYLD tumoral     --low   in a large fraction of human colorectal cancers, mainly through promoter methylation tumoral fusion       fusion gene PLEKHA6-NTRK3 in langerhans cell histiocytosis

Susceptibility

to medullary thyroid carcinoma to eating disorder to panic disorder (PD) and obsessive-compulsive disorder (OCD)

Variant & Polymorphism SNP	increasing the risk of eating disorder
	C allele of rs28521337, significantly associated with the hoarding phenotype of OCD and two new rare variants ss102661458 and ss102661460, located in functional target site for MicroRNA, in PD

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer brain glioma/neuroblstoma could be a target for combinatorial treatment of malignant glioma

ANIMAL & CELL MODELS