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RET Gene

protein-coding GIFtS: 72

GC10P042892

ret proto-oncogene
(Previous names: multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: HSCR1, MEN2A, MTC1, MEN2B)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
C-ret ^³
CDHF12 ^¹, ², ³
EC 2.7.10.1 ^³
HSCR1 ^²
MEN2A ^², ⁵
MEN2B ^²
MTC1 ^²
PTC ^¹, ²
RET-ELE1 ^²
RET51 ^¹, ²

Descriptions
Hirschsprung disease 1 ^¹
RET transforming sequence ^²
cadherin family member 12 ^²
hydroxyaryl-protein kinase ^²
multiple endocrine neoplasia and medullary thyroid carcinoma 1 ^¹
oncogene RET ^²
receptor tyrosine kinase ^²
ret proto-oncogene ^²
ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease) ^²

External Ids
HGNC: 9967¹
Entrez Gene: 5979²
UniProtKB: P07949³
Ensembl: ENSG00000165731⁷

Search outside databases for aliases for RET gene

Previous GC identifers: GC10P042861 GC10P043040 GC10P043347 GC10P042856

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for RET:

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]

UniProtKB/Swiss-Prot: RET_HUMAN, P07949

Function: Probable receptor with tyrosine-protein kinase activity; important for development

Gene Wiki entry for RET (RET_proto-oncogene)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the RET gene

Entrez Gene cytogenetic band: 10q11.2 Ensembl cytogenetic band: 10q11.21 HGNC cytogenetic band: 10q11.2

RET Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P042892: (about GC identifiers)

Start:	42,892,523 bp from pter
End:	42,945,805 bp from pter
Size:	53,283 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000010.9 NT_033985.6

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: RET_HUMAN, P07949 (See protein sequence)

Recommended Name: Proto-oncogene tyrosine-protein kinase receptor ret precursor

Size: 1114 amino acids; 124319 Da

Subunit: Phosphorylated form interacts with the PBT domain of DOK2, DOK4 and DOK5 (By similarity)

Subcellular location: Membrane; Single-pass type I membrane protein

PDB structures from and Proteopedia :

1XPD (3D)

2IVS (3D)

2IVT (3D)

2IVU (3D)

2IVV (3D)

Secondary accessions: Q15250 Q9H4A2

Post-translational modifications:

Phosphorylated¹

Autophosphorylated on C-terminal tyrosine residues upon ligand stimulation¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_065681.1 NP_066124.1

ENSEMBL proteins:

ENSP00000344798 ENSP00000347942

Human Recombinant Proteins

	Invitrogen human recombinant proteins for RET
	Millipore Purified and/or Recombinant RET Protein
	Sigma-Aldrich CompoZr ZFN for RET
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Ret)
	Human Recombinant Proteins from Abnova (RET)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

4 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	18029348
GO:0005794	Golgi apparatus	IDA	18029348
GO:0005886	plasma membrane	IDA	18029348
GO:0016021	integral to membrane	IEA	--

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Antibodies for RET:

	Invitrogen Antibodies for RET
	Millipore Mono- and Polyclonal Antibodies for the study of RET
	Sigma-Aldrich Antibodies for RET
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for RET
	Antibodies from Abcam (Ret), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (RET)
	Novus Biologicals Antibodies for RET

Assays for RET:

	Invitrogen Assays for RET
	Millipore Kits and Assays for the Analysis of RET
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P07949

ProtoNet protein and cluster: P07949

2 Blocks protein families:

IPB002126 Cadherin

IPB008266 Tyrosine protein kinase

UniProtKB/Swiss-Prot: RET_HUMAN, P07949

Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family

Similarity: Contains 1 cadherin domain

Similarity: Contains 1 protein kinase domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (RET)
		Millipore RNAi Products for the Analysis of RET Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (RET)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_020975

Applied Biosystems Silencer® siRNAs for RET

Sigma-Aldrich siRNA and siRNA Panels for RET

Sigma-Aldrich shRNA Panels and shRNA for RET

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for RET
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_020630
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_020630
untagged cDNA clones in CMV expression vector (see all 3): NM_000323

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_020975

UniProtKB/Swiss-Prot: RET_HUMAN, P07949

Function: Probable receptor with tyrosine-protein kinase activity; important for development

Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate

Enzyme Number (IUBMB): EC 2.7.10.1

Genatlas biochemistry entry for RET:

glial cell line derived neurotrophic factor (GDNF) receptor component,homodimerizing and binding

the GDNF-GFRA complex,expressed in the developing kidney,the presumptive enteric

neuroblats,cranial ganglia (VII,VIII,IX and X) and in the presumptive motor neurons of the spinal

cord,interacting with SHC1 transduction adaptor protein,potentially involved in peripheral nerve

repair

15/19 MGI mutant phenotypes (inferred from 33 alleles) (MGI details for Ret) (see all 19 ):

	behavior/neurological	cellular	digestive/alimentary	embryogenesis
endocrine/exocrine gland	growth/size	homeostasis/metabolism	lethality-postnatal	lethality-prenatal/perinatal
life span-post-weaning/aging	limbs/digits/tail	muscle	nervous system	normal

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	--
GO:0004872	receptor activity	TAS	7824936
GO:0005509	calcium ion binding	IEA	--
GO:0005524	ATP binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for RET (Your Favorite Gene powered by Ingenuity)

Thyroid Cancer Signaling

GeneDecks RET for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for RET

5/100 Interacting proteins for RET (P07949² ENSP00000344798³) via UniProtKB, MINT, and/or STRING (see all 100 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CBL	P22681², ENSP00000264033³	MINT-50071 MINT-60976 MINT-60969 MINT-50072 MINT-60970 MINT-60968 STRING (score=.927)
GRB2	P62993², ENSP00000339007³	MINT-60975 STRING (score=.999)
SHC1	P29353², ENSP00000357432³	MINT-60981 STRING (score=.999)
FAU	P35544²	MINT-60966 MINT-60965
GDNF	ENSP00000317145³	STRING (score=.999)

About this table

4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006468	protein amino acid phosphorylation	TAS	7824936
GO:0007156	homophilic cell adhesion	IEA	--
GO:0007165	signal transduction	TAS	7824936
GO:0007497	posterior midgut development	TAS	8114939

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for RET
10/22 Novoseek chemical compound relationships for RET gene (see all 22 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	83.28	466	7678053 (4), 8363602 (4), 11564708 (4), 8114938 (3) (see all 99)
zd6474	74.52	20	19029224 (4), 18245671 (3), 18364248 (2), 15867345 (2) (see all 9)
phosphotyrosine	40.77	6	16847065 (2), 8812115 (1), 10728700 (1), 18756447 (1)
threonine	32.54	10	9075701 (4), 7559902 (1), 11356339 (1), 11351254 (1) (see all 7)
cipa	30.88	4	8957089 (1), 12652644 (1)
methionine	30.03	5	7559902 (1), 11356339 (1), 11351254 (1), 8884827 (1) (see all 5)
sodium iodide	27.52	1	17391636 (1)
phenylalanine	26.96	17	10679286 (2), 11002419 (1), 9627110 (1), 11331212 (1) (see all 11)
phosphatidylinositol	26.41	16	11846482 (3), 11313948 (2), 9798915 (2), 11002419 (1) (see all 9)
zma	24.34	5	7904208 (1), 7815416 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (RET)
		Millipore RNAi Products for the Analysis of RET Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (RET)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4): NM_020975

Sigma-Aldrich siRNA and siRNA Panels for RET

Sigma-Aldrich shRNA Panels and shRNA for RET

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_020630 NM_020975

REFSEQ mRNAs for RET gene (2 alternative transcripts):

NM_020630.4 NM_020975.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_020630 NM_020975

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_020630
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_020630
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000323

Additional cDNA sequence:

AJ844649.1 AK291807.1 AK294827.1 BC003072.2 BC004257.1 X15262.1 Y12528.1

9 DOTS entries:

DT.40222723 DT.121287046 DT.121287035 DT.95362735 DT.97823574 DT.95362738 DT.100783057 DT.100783060

DT.100807107

24/93 AceView cDNA sequences (see all 93 ):

AI167534 BM664772 AI263439 AA716772 NM_020630 AI204150 AL514642 NM_020975

H24996 CD630508 BX283511 BE261669 CD630494 AW949397 BG519723 CD630495

BX353743 BU858188 BC003072 BX332519 BX501190 X15262 AI472270 BE313267

highest scoring ESTs for RET:

AA983685 BF311917 BF316920 BI195797 BQ279180 BQ720918 CA489570 F07297 X12949 AA716772

Unigene Cluster for RET:

Ret proto-oncogene

Hs.350321 [show with all ESTs]

Unigene Representative Sequence: NM_020975

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for RET

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14a	·	14b	^	15	^	16	^	17	^	18	^	19a	·	19b	^	20
SP1:																																															-
SP2:
SP3:																	-		-		-		-		-		-		-		-		-
SP4:			-		-		-		-		-		-		-		-

About this scheme

ECgene alternative splicing isoforms for RET

2 Ensembl transcripts including schematic representations:

ENST00000340058 ENST00000355710

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

RET expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for RET

¹ / ² / ³

11 probe-sets matching RET gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
1823_g_at²^{, 3}	U95-A	1	1.00	1.00	0.90	0.57	HG4677-HT5102	0.20	1.00	0.72	1
160028_s_at²^{, 3}	U95-A	1	1.00	1.00	0.86	1.03	X12949	0.80	1.00	0.91	1
1822_at²^{, 3}	U95-A	1	1.00	1.00	0.93	1.00	HG4677-HT5102	0.20	1.00	0.72	1
91896_at²^{, 3}	U95-D	2	1.00	0.97	0.80	1.73	AA983685	0.80	1.00	0.91	1
1745_at²^{, 3}	U95-A	1	0.88	1.00	0.95	0.87	HG4679-HT5104	0.20	1.00	0.72	1
215771_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	X15786	0.40	0.67	0.55	1
211421_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M31213	0.20	1.00	0.72	1
205879_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BC004257	0.60	1.00	0.82	1
215771_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211421_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
205879_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks RET for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.350321
Expression variation in blood from EXPOLDB for RET

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for RET gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	RET¹	--	ret proto-oncogene	87.16(n) 87.96(a)	403494 XM_543915.2 XP_543915.2
rat (Rattus norvegicus)	Ret¹	--	ret proto-oncogene	83.21(n) 84.98(a)	24716 NM_012643.1 NP_036775.1
mouse (Mus musculus)	Ret^{1, 5}	6 (53.20 cM)⁵	ret proto-oncogene^{1, 5}	82.78(n)¹ 83.47(a)¹	19713¹ NM_009050.2¹ NP_033076.2¹ AF209436⁵ AK044686⁵ (see all 11)
chicken (Gallus gallus)	RET¹	--	ret proto-oncogene	66.13(n) 67.21(a)	396107 NM_205190.1 NP_990521.1
zebrafish (Danio rerio)	ret1²	--	receptor tyrosine kinase	77.47(n)	30512 AF007949.1

About this table Species with no ortholog for RET

ENSEMBL Gene Tree for RET

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for RET gene

FGFR1² FGFR2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: RET_HUMAN, P07949

Polymorphism: The Cys-982 polymorphism may be associated with an increased risk for developing

Hirschsprung disease

10/405 NCBI SNPs in RET are shown (see all 405 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 238)

AB	SNP ID	Valid	Chr 10 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2565200^1,2	A,C,F,H,O	42942939(-)	`TAATCG/AAAGAC`	2	--	ut3¹ int¹		8	EU NA EA WA	742
	rs1799939^1,2	C,F,H,O	42930125(+)	`CTTCCG/AGTGCC`	2	S/G	mis¹ ese³		14	EA MN CSAM NA EU WA	2526
	rs2742240^1,2	A,C,F,H	42944323(+)	`TTTTTT/AAATCA`	1	--	ut3¹ ese³		4	EU EA WA	418
	rs2435355^1,2	A,C,F,H	42944839(+)	`GAGCCT/CGTGTG`	1	--	ut3¹ ese³		6	EA WA NA	420
	rs2075912^1,2	A,C,F,H	42942223(+)	`CCCCTC/TTGCAC`	2	--	ut3¹ int¹		12	EA NA EU WA	1886
	rs3026785^1,2	C,F,H	42945692(+)	`AGTTAT/CTAAAA`	1	--	ut3¹		8	EU EA WA	756
	rs2075913^1,2	A,C,F	42942374(+)	`AAGGAT/AGTGAA`	2	--	int¹ ut3¹		4	EA NA	1622
	rs2742241^1,2	A,C,F	42945229(+)	`GCCTTA/GTGGTG`	1	--	ut3¹ ese³		3	NA	138
	rs17158558^1,2	C,F,H	42940341(+)	`GGTACC/TGCCTG`	2	R/C	mis¹ ese³		12	NA EU EA WA	1036
--	rs9282834^1,2	C,F,H	42926862(+)	`CCACCG/AACCAG`	2	N/D	mis¹ ese³		13	MN CSAM EA EU WA	1216

About this table

HapMap Linkage Disequilibrium images for RET (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 164761 disorders: 171400 155240 162300 142623 209880 171300 191830

UniProtKB/Swiss-Prot: RET_HUMAN, P07949

Defects in RET may be a cause of colorectal cancer (CRC) [MIM:114500]

Defects in RET are a cause of Hirschsprung disease (HSCR) [MIM:142623]. HSCR is a genetic

disorder of neural crest development characterized by the absence of intramural ganglion cells in

the hindgut, often resulting in intestinal obstruction. Occasionally, MEN2A or FMTC occur in

association with HSCR

Defects in RET are the cause of medullary thyroid carcinoma (MTC) [MIM:155240]. MTC is a

rare tumor derived from the C cells of the thyroid. Three hereditary forms are known, that are

transmitted in an autosomal dominant fashion: (a) multiple neoplasia type 2A (MEN2A), (b) multiple

neoplasia type IIB (MEN2B) and (c) familial MTC (FMTC), which occurs in 25-30% of MTC cases and

where MTC is the only clinical manifestation

Defects in RET are the cause of multiple neoplasia type 2B (MEN2B) [MIM:162300]. MEN2B is

an uncommon inherited cancer syndrome characterized by predisposition to MTC and phaeochromocytoma

which is associated with marfanoid habitus, mucosal neuromas, skeletal and ophtalmic

abnormalities, and ganglioneuromas of the intestine tract. Then the disease progresses rapidly

with the development of metastatic MTC and a pheochromocytome in 50% of cases

Defects in RET are a cause of pheochromocytoma [MIM:171300]. The pheochromocytomas are

catecholamine-producing, chromaffin tumors that arise in the adrenal medulla in 90% of cases. In

the remaining 10% of cases, they develop in extra-adrenal sympathetic ganglia and may be referred

to as "paraganglioma." Pheochromocytoma usually presents with hypertension. Approximately 10% of

pheochromocytoma is hereditary. The genetic basis for most cases of non-syndromic familial

pheochromocytoma is unknown

Defects in RET are the cause of multiple neoplasia type 2A (MEN2A) [MIM:171400]; also

called multiple neoplasia type 2 (MEN2). MEN2A, the most frequent form of MTC, is an inherited

cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism

Chromosomal aberrations involving RET are a cause of thyroid papillary carcinoma (PACT)

[MIM:188550]. Inversion inv(10)(q11.2;q21) generates the RET/CCDC6 (PTC1) oncogene; inversion

inv(10)(q11.2;q11.2) generates the RET/NCOA4 (PTC3) oncogene; translocation t(10;14)(q11;q32) with

GOLGA5 generates the RET/GOLGA5 (PTC5) oncogene; translocation t(8;10)(p21.3;q11.2) with PCM1

generates the PCM1/RET fusion; translocation t(6;10)(p21.3;q11.2) with RFP generates the Delta

RFP/RET oncogene; translocation t(1;10)(p13;q11) with TRIM33 generates the TRIM33/RET (PTC7)

oncogene; translocation t(7;10)(q32;q11) with TIF1 generates the TIF1/RET (PTC6) oncogene. The

PTC5 oncogene has been found in 2 cases of PACT in children exposed to radioactive fallout after

Chernobyl

Defects in RET are a cause of renal adysplasia [MIM:191830]; also known as renal agenesis

or renal aplasia. Renal agenesis refers to the absence of one (unilateral) or both (bilateral)

kidneys at birth. Bilateral renal agenesis belongs to a group of perinatally lethal renal

diseases, including severe bilateral renal dysplasia, unilateral renal agenesis with contralateral

dysplasia and severe obstructive uropathy

Defects in RET are a cause of congenital central hypoventilation syndrome (CCHS)

[MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. CCHS is a

rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or

lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of

respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia

and hypoxemia

10/94 Novoseek disease relationships for RET gene (see all 94 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
men 2a	98.45	696	8849577 (6), 8556060 (6), 9620546 (5), 17573899 (5) (see all 99)
multiple endocrine neoplasia	98.02	319	7491519 (2), 8895732 (2), 9067749 (2), 11103773 (2) (see all 99)
thyroid carcinoma medullary	97.98	386	7627269 (5), 7864888 (3), 12694233 (3), 16451770 (3) (see all 99)
thyroid carcinoma, familial medullary	97.66	136	11502806 (3), 14602786 (3), 10323403 (2), 8829625 (2) (see all 99)
hirschsprung disease	95.04	332	9824583 (6), 17108762 (4), 11955539 (4), 9384613 (4) (see all 99)
men 3	94.70	286	11245446 (8), 9620546 (5), 17573899 (5), 1979053 (4) (see all 99)
thyroid papillary carcinoma	93.11	238	8626874 (5), 9589668 (4), 17718263 (4), 10337992 (4) (see all 99)
pheochromocytoma	91.26	279	8912182 (7), 14739491 (7), 10953992 (5), 9761126 (5) (see all 99)
germ-line mutation	85.84	59	8895732 (2), 9179691 (2), 16419493 (2), 7784092 (1) (see all 51)
carcinoma medullary	80.59	18	14557476 (2), 10392179 (1), 11914470 (1), 16955009 (1) (see all 16)

About this table

GeneTests: RET

Hirschsprung Disease

Human Gene Mutation Database: RET
Genetic Association Database: RET
Human Genome Epidemiology Navigator: RET (87 documents)
Tumor Gene Database: RET

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/1325 PubMed articles for RET gene (see all 1325 ):

Germ-line mutations in nonsyndromic pheochromocytoma. (PubMed id 12000816)^{1, 3, 4, 6} Neumann H.P.H.... Eng C. (2002)
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. (PubMed id 10522989)^{1, 3, 4, 6} Tessitore A.... Colantuoni V. (1999)
TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease. (PubMed id 15548547)^{1, 3, 6} Garcia-Barcelo M....Tam P.K. (2005)
Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. (PubMed id 9384613)^{1, 3, 4} Decker R.A.... Watson P. (1998)
RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population. (PubMed id 15240649)^{1, 3, 6} Elisei R....Pinchera A. (2004)
Identification of RET autophosphorylation sites by mass spectrometry. (PubMed id 14711813)^{1, 3, 4} Kawamoto Y.... Nakashima I. (2004)
Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site. (PubMed id 10484767)^{1, 3, 4} Geneste O.... Billaud M. (1999)
Renal aplasia in humans is associated with RET mutations. (PubMed id 18252215)^{1, 3, 4} Skinner M.A....Freemerman A.J. (2008)
Tyrosines 1015 and 1062 are in vivo autophosphorylation sites in ret and ret-derived oncoproteins. (PubMed id 11061555)^{1, 3, 4} Salvatore D.... Santoro M. (2000)
Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease. (PubMed id 9094028)^{1, 3, 4} Kusafuka T.... Puri P. (1997)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 5979	HGNC: 9967	AceView: RET	Ensembl:ENSG00000165731	euGenes: HUgn5979
ECgene: RET	H-InvDB: RET

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for RET	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=RET
MEN2 RET database	http://www.arup.utah.edu/database/MEN2/MEN2_welcome.php

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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RET Gene

protein-coding GIFtS: 72

Aliases &
Descriptions
for RET

Summaries
for RET

Genomic Location
for RET

Proteins
for RET

Protein Domains/
Families
for RET

Gene Function
for RET

Pathways & Interactions
for RET

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for RET

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for RET

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for RET

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for RET

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for RET

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for RET

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

RET (Gene Symbol)
C-ret
CDHF12
EC 2.7.10.1
HSCR1
MEN2A
MEN2B
MTC1
PTC
RET-ELE1
RET51
Hirschsprung disease 1
RET transforming sequence
cadherin family member 12
hydroxyaryl-protein kinase
multiple endocrine neoplasia and medullary thyroid carcinoma 1
oncogene RET
receptor tyrosine kinase
ret proto-oncogene
ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)

RET Gene

protein-coding GIFtS: 72

Aliases & Descriptionsfor RET

Summariesfor RET

Genomic Locationfor RET

Proteinsfor RET

Protein Domains/Familiesfor RET

Gene Functionfor RET

Pathways & Interactionsfor RET

Drugs & Compoundsfor RET

Transcriptsfor RET

Expression for RET

Orthologsfor RET

Paralogsfor RET

SNPs/Variantsfor RET

Disorders & Mutationsfor RET

Medical Newsfor RET

Publicationsfor RET

Search for RET

Genome Databases showing RET

Other Databases showing RET

Specialized Databases showing RET

Licensable Technologiesfor RET

Servicesfor RET

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for RET

Summaries
for RET

Genomic Location
for RET

Proteins
for RET

Protein Domains/
Families
for RET

Gene Function
for RET

Pathways & Interactions
for RET

Drugs & Compounds
for RET

Transcripts
for RET

Expression
for RET

Orthologs
for RET

Paralogs
for RET

SNPs/Variants
for RET

Disorders & Mutations
for RET

Medical News
for RET

Publications
for RET

Licensable Technologies
for RET

Services
for RET