The RET gene homepage
| General information |
| Gene symbol |
RET |
| Gene name |
ret proto-oncogene |
| Chromosome |
10 |
| Chromosomal band |
q11.2 |
| Imprinted |
- |
| Genomic reference |
NG_007489.1 |
| Transcript reference |
NM_020975.4 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
521 |
| Unique public DNA variants reported |
205 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008]
Also known as: PTC; MTC1; HSCR1; MEN2A; MEN2B; RET51; CDHF12; CDHR16; RET-ELE1 |
| Date created |
May 04, 2013 |
Active transcripts
| Copyright & disclaimer |
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