ALFRED: allele frequency database
      The ALlele FREquency Database   
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.
ALFRED detailed record information

Locus Information

NameALFRED UIDLocus SymbolChromosomeBand Position
Ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)LO000197RRET1010q11.2
Synonyms: ret proto-oncogene (multiple endocrine neoplasia MEN2A, MEN2B and medullary thyroid carcinoma 1, Hirschsprung disease) ; PTC ; MTC1 ; MEN2A ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information   OMIM description   GenBank sequence   GenBank sequence    Proto-oncogenes and cancer    Oncogenes    The RET gene and its associated diseases   PharmGKB Gene Information   Genopedia (HuGE Navigator)   
References: See References
Locus Description: RET (REarranged during Transfection) was cloned by Takahashi et al. (1985) [PubMed ID: 2992805] using a classic NIH 3T3 transformation assay. This gene is a proto-oncogene, which encodes a cell surface glycoprotein belonging to a member of the tyrosine kinase receptor family, which is specifically expressed in tissues of neuroectodermal origin. Ishizaka et al. (1989) assigned RET to chromosome 10q11.2 by fluorescence in situ hybridization [PubMed ID: 2687772]. RET maps between D10S141 and D10S94 (Brooks-Wilson et al., 1993 [PubMed ID: 7902324] and Gardner et al., 1993 [PubMed ID: 8098977]). The biological function of the RET product is to transduce signals for cell growth and differentiation. Therefore, this gene plays a crucial role in neural crest development. In addition, it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Numerous polymorphisms have been reported on different ethnic groups. Iyengar et al. (1998) applied cross species PCR to infer the ancestral state of human RET TaqI polymorphism on four species of non-human primates [PubMed ID: 10993602].
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:
Site Name
(Navigates to ALFRED
description)		dbSNP rs#
(Navigates to dbSNP
reference page)		Chr-PositionStatus# Populations
typed
rs2506011rs2506011   4289494286
intron 1 G/C rs2506007   4290077943
rs2506021rs2506021   4290415485
C___2046183_10rs2435345   4290589547
rs2435347rs2435347   4291106351
rs2505535rs2505535   4291304951
exon 2 HaeIII rs1800858   4291597454
rs3026737rs3026737   4291673451
C___3204337_10rs2472740   4291865343
rs2505515rs2505515   4292559251
C___3204345_10rs1864402   4292586689
rs1800860rs1800860   4292669377
HGVbase_SNP000002408rs1799939   4293012544
rs3026762rs3026762   4293067751
exon 13 TaqI rs1800861   4293384944
HGVbase_SNP000570282rs2075910   4293423616
rs2472737rs2472737   4293551150
exon 15 RsaI rs1800863   4293563944
intron 19 TaqI rs2565200   4294293943
C___3204363_10rs3026782   4294411143
rs3026785rs3026785   4294569250
3' BseR I rs2914985   42972518Now associated with GALNACT-244
G/T SNPrs2505553   43001257Now associated with GALNACT-254
DdeIrs1254968   43011697Now associated with RASGEF1A44
A/C SNPrs4987091   43036713Now associated with RASGEF1A53
RsaI(b) rs1915144   43052135Now associated with RASGEF1A44
StyIrs4987092   43072299Now associated with RASGEF1A54
MspI rs4987093   43072936Now associated with RASGEF1A56
5'-AluI rs741763   4356834643
6-site haplotype   4358077332
5-site haplotype   4358077332
rs752978rs752978   4358842950
4-site haplotype   4359596831
3-site haplotype (TaqI, RsaI, HaeIII)   4361384332
rs715106rs715106   4361675151
C_12009293_10rs17028   4362381275
SmaI rs869184   43758455Now associated with RASGEF1A44
intron 5 (CA)n   32

References:
- Brooks-Wilson AR, Lichter JB, Ward DC, Kidd KK, Goodfellow PJ. "Genomic and yeast artifical chromosome long-range physical maps linking six loci in 10q11.2 and spanning the multiple endocrine neoplasia type 2A (MEN2A) region". Genomics 17:611-17. (1993) Online citation.

- Donis-Keller H. "The RET proto-oncogene and cancer". J. Intern. Med. 238:319-25. (1995) Online citation.

- Gardner E, Papi L, Easton DF, Cummings T, Jackson CE, Kaplan M, Love DR, Mole SE, Moore JK, Mulligan LM, et al. "Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2". Hum. Mol. Genet. 2:241-6. (1993) Online citation.

- Ishizaka Y, Itoh F, Tahira T, Ikeda I, Sugimura T, Tucker J, Fertitta A, Carrano AV, Nagao M. "Human ret proto-oncogene mapped to chromosome 10q11.2". Oncogene 4:1519-21. (1989) Online citation.

- Iyengar S, Seaman M, Deinard AS, Rosenbaum HC, Sirugo G, Castiglione CM, Kidd JR, Kidd KK. "Analyses of cross-species polymerase chain reaction products to infer the ancestral state of human polymorphisms". DNA Seq. 8:317-27. (1998) Online citation.

- Takahashi M, Ritz J, Cooper GM. "Activation of a novel human transforming gene, ret, by DNA rearrangement". Cell 42:581-8. (1985) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan