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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

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