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ret proto-oncogene
10q11.2
Expression: at least four different transcripts
Pathology:
- loss of function mutations in the ret gene induces Hirschsprung's disease
- in contrast, activating mutations in the ret gene are associated with multiple endocrine neoplasia types 2A & 2B & familial medullary thyroid carcinoma, & 20-30% of papillary thyroid carcinomas
Related
familial medullary thyroid carcinoma
Hirschsprung disease; congenital megacolon; colonic aganglionosis; aganglionic megacolon
multiple endocrine neoplasia type-2 (MEN-2)
papillary thyroid carcinoma
proto-oncogene tyrosine-protein kinase receptor ret; C-ret; (RET, CDHF12)
General
proto-oncogene
Properties
TEMPLATE-FOR: messenger RNA
TEMPLATE-FOR: c-ret protein
LOCUS: human chromosome-11 Q11.2
SIZE: entity length = 80 KB
MOTIF: transcription factor binding site
transcriptional start site
exon (21)
intron (20)
transcriptional termination site
Database Correlations
OMIM 164761
MORBIDMAP 164761
Entrez Gene 5979
References
- Hunter T.
Cooperation between oncogenes.
Cell. 1991 Jan 25;64(2):249-70. Review.
PMID: 1988147
- van Heyningen V.
Genetics. One gene--four syndromes.
Nature. 1994 Jan 27;367(6461):319-20.
PMID: 7906865