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FLASH GENE

Symbol

RET

contributors: npt/mct - updated : 24-02-2018

HGNC name	ret proto-oncogene
HGNC id	9967

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CCHS1 , HSCR1 , MEN2A , MEN2B , MTC1 , PTC1 , RADP

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with NCOA4 in papillary thyroid carcinoma tumoral   deletion     in small cell lung cancer tumoral   amplification     in thyroid, parathyroid, adrenal tumor tumoral       gain of function underlies the genesis and progression of multiple endocrine neoplasia type 2 tumoral fusion       fused with HOOK3 in papillary thyroid carcinoma (Ciampi 2007) tumoral   translocation     5'- TRIM24 - RET -3' fused in papillary thyroid carcinoma (see PTC6) tumoral fusion       KIF5B-RET fusion promotes the cell growth and tumorigenicity of non-small cell lung cancers through multilevel activation of STAT3 signaling tumoral imprinting       aberrant methylation of RET and the mutational inactivation of RET promote colorectal cancer formation, and that RET can serve as a tumor suppressor gene in the colon (

Susceptibility

to Hirschsprung, short segment(HSCR) to renal aplasia

Variant & Polymorphism SNP , other	CI35AIA in short segment Hirschsprung's disease
	A-C-A haplotype overrepresented in Hirschsprung disease and associated with reduced gene expression
	a common sex-dependent mutation in a enhancer increasing the risk of HSCR
	a common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease
	frequent mutation associated to renal aplasia
	SNP1 (rs2506004) and SNP2 (rs 2435357)] have been shown to be etiologically important in the pathogenesis of Hirschsprungdisease (HSCR)

Candidate gene
Marker
Therapy target	Small-molecule tyrosine kinase inhibitors can target multiple kinases at nanomolar concentrations including RET and have shown efficacy against a variety of malignancies
	System Type Disorder Pubmed cancer     small-molecule tyrosine kinase inhibitors can target multiple kinases at nanomolar concentrations including RET and have shown efficacy against a variety of malignancies cancer reproductive breast inhibition of RET increases the efficacy of antiestrogen and is a novel treatment strategy for luminal breast cancer

ANIMAL & CELL MODELS

RET conditional knock-out mice are characterized from a late and progressive degeneration of dopaminergic (DA) neurons