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Aliases for RET Gene

Aliases for RET Gene

  • Ret Proto-Oncogene 2 3 5
  • Cadherin-Related Family Member 16 2 3
  • Rearranged During Transfection 2 3
  • RET Receptor Tyrosine Kinase 2 3
  • Cadherin Family Member 12 3 4
  • Proto-Oncogene C-Ret 3 4
  • EC 2.7.10.1 4 63
  • CDHF12 3 4
  • CDHR16 3 4
  • RET51 3 4
  • PTC 3 4
  • Ret Proto-Oncogene (Multiple Endocrine Neoplasia And Medullary Thyroid Carcinoma 1, Hirschsprung Disease) 3
  • Multiple Endocrine Neoplasia And Medullary Thyroid Carcinoma 1 2
  • Hydroxyaryl-Protein Kinase 3
  • RET Transforming Sequence 3
  • Receptor Tyrosine Kinase 3
  • Hirschsprung Disease 1 2
  • CUX1/RET Fusion 3
  • EC 2.7.10 63
  • RET-ELE1 3
  • HSCR1 3
  • MEN2A 3
  • MEN2B 3
  • MTC1 3

External Ids for RET Gene

Previous HGNC Symbols for RET Gene

  • HSCR1
  • MEN2A
  • MTC1
  • MEN2B

Previous GeneCards Identifiers for RET Gene

  • GC10P042861
  • GC10P043347
  • GC10P042856
  • GC10P042892
  • GC10P043572
  • GC10P040098

Summaries for RET Gene

Entrez Gene Summary for RET Gene

  • 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]

GeneCards Summary for RET Gene

RET (Ret Proto-Oncogene) is a Protein Coding gene. Diseases associated with RET include multiple endocrine neoplasia iia and medullary thyroid carcinoma, familial. Among its related pathways are Central carbon metabolism in cancer and Endocytosis. GO annotations related to this gene include calcium ion binding and protein kinase activity. An important paralog of this gene is FGFR1.

UniProtKB/Swiss-Prot for RET Gene

  • Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands. Phosphorylates PTK2/FAK1. Regulates both cell death/survival balance and positional information. Required for the molecular mechanisms orchestration during intestine organogenesis; involved in the development of enteric nervous system and renal organogenesis during embryonic life, and promotes the formation of Peyers patch-like structures, a major component of the gut-associated lymphoid tissue. Modulates cell adhesion via its cleavage by caspase in sympathetic neurons and mediates cell migration in an integrin (e.g. ITGB1 and ITGB3)-dependent manner. Involved in the development of the neural crest. Active in the absence of ligand, triggering apoptosis through a mechanism that requires receptor intracellular caspase cleavage. Acts as a dependence receptor; in the presence of the ligand GDNF in somatotrophs (within pituitary), promotes survival and down regulates growth hormone (GH) production, but triggers apoptosis in absence of GDNF. Regulates nociceptor survival and size. Triggers the differentiation of rapidly adapting (RA) mechanoreceptors. Mediator of several diseases such as neuroendocrine cancers; these diseases are characterized by aberrant integrins-regulated cell migration.

Tocris Summary for RET Gene

Gene Wiki entry for RET Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RET Gene

Genomics for RET Gene

Regulatory Elements for RET Gene

Enhancers for RET Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RET on UCSC Golden Path with GeneCards custom track

Genomic Location for RET Gene

Chromosome:
10
Start:
43,077,027 bp from pter
End:
43,130,351 bp from pter
Size:
53,325 bases
Orientation:
Plus strand

Genomic View for RET Gene

Genes around RET on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RET Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RET Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RET Gene

Proteins for RET Gene

  • Protein details for RET Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07949-RET_HUMAN
    Recommended name:
    Proto-oncogene tyrosine-protein kinase receptor Ret
    Protein Accession:
    P07949
    Secondary Accessions:
    • A8K6Z2
    • Q15250
    • Q9BTB0
    • Q9H4A2

    Protein attributes for RET Gene

    Size:
    1114 amino acids
    Molecular mass:
    124319 Da
    Quaternary structure:
    • Phosphorylated form interacts with the PBT domain of DOK2, DOK4 and DOK5. The phosphorylated form interacts with PLCG1 and GRB7. Interacts (not phosphorylated) with CC PTK2/FAK1 (via FERM domain). Extracellular cell-membrane anchored RET cadherin fragments form complex in neurons with reduced trophic status, preferentially at the contact sites between somas. Interacts with AIP in the pituitary gland; this interaction prevents the formation of the AIP-survivin complex. Binds to ARTN. Interacts (inactive) with CBLC and CD2AP; dissociates upon activation by GDNF which increases CBLC:CD2AP interaction.
    Miscellaneous:
    • Treatment with withaferin A (WA) leads tumor regression in medullary thyroid carcinomas (MTC).
    SequenceCaution:
    • Sequence=AAA36524.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAA36786.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA33787.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAC14882.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RET Gene

    Alternative splice isoforms for RET Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RET Gene

Proteomics data for RET Gene at MOPED

Selected DME Specific Peptides for RET Gene

Post-translational modifications for RET Gene

  • Autophosphorylated on C-terminal tyrosine residues upon ligand stimulation. Dephosphorylated by PTPRJ on Tyr-905, Tyr-1015 and Tyr-1062.
  • Proteolytically cleaved by caspase-3. The soluble RET kinase fragment is able to induce cell death. The extracellular cell-membrane anchored RET cadherin fragment accelerates cell adhesion in sympathetic neurons.
  • Glycosylation at Asn 98, Asn 151, Asn 199, Asn 336, Asn 343, Asn 361, Asn 367, Asn 377, Asn 394, Asn 448, Asn 468, and Asn 554
  • Modification sites at PhosphoSitePlus

Other Protein References for RET Gene

Domains & Families for RET Gene

Graphical View of Domain Structure for InterPro Entry

P07949

UniProtKB/Swiss-Prot:

RET_HUMAN :
  • Contains 1 cadherin domain.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family.
Domain:
  • Contains 1 cadherin domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family.
genes like me logo Genes that share domains with RET: view

Function for RET Gene

Molecular function for RET Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Repressed by 4-(3-hydroxyanilino)-quinolines derivatives, indolin-2-one-derivatives, 2-(alkylsulfanyl)-4-(3-thienyl) nicotinonitrile analogs, 3- and 4-substituted beta-carbolin-1-ones, vandetanib, motesanib, sorafenib (BAY 43-9006), cabozantinib (XL184), sunitinib, and withaferin A (WA). Inactivation by sorafenib both reduces kinase activity and promotes lysosomal degradation.
UniProtKB/Swiss-Prot Function:
Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation upon binding with glial cell derived neurotrophic factor family ligands. Phosphorylates PTK2/FAK1. Regulates both cell death/survival balance and positional information. Required for the molecular mechanisms orchestration during intestine organogenesis; involved in the development of enteric nervous system and renal organogenesis during embryonic life, and promotes the formation of Peyers patch-like structures, a major component of the gut-associated lymphoid tissue. Modulates cell adhesion via its cleavage by caspase in sympathetic neurons and mediates cell migration in an integrin (e.g. ITGB1 and ITGB3)-dependent manner. Involved in the development of the neural crest. Active in the absence of ligand, triggering apoptosis through a mechanism that requires receptor intracellular caspase cleavage. Acts as a dependence receptor; in the presence of the ligand GDNF in somatotrophs (within pituitary), promotes survival and down regulates growth hormone (GH) production, but triggers apoptosis in absence of GDNF. Regulates nociceptor survival and size. Triggers the differentiation of rapidly adapting (RA) mechanoreceptors. Mediator of several diseases such as neuroendocrine cancers; these diseases are characterized by aberrant integrins-regulated cell migration.
UniProtKB/Swiss-Prot Induction:
Positively regulated by NKX2-1, PHOX2B, SOX10 and PAX3.

Enzyme Numbers (IUBMB) for RET Gene

Gene Ontology (GO) - Molecular Function for RET Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity IEA,TAS 7824936
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
genes like me logo Genes that share ontologies with RET: view
genes like me logo Genes that share phenotypes with RET: view

Human Phenotype Ontology for RET Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RET Gene

MGI Knock Outs for RET:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for RET Gene

Localization for RET Gene

Subcellular locations from UniProtKB/Swiss-Prot for RET Gene

Cell membrane; Single-pass type I membrane protein. Endosome membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RET Gene COMPARTMENTS Subcellular localization image for RET gene
Compartment Confidence
endosome 5
plasma membrane 5
cytosol 3
extracellular 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for RET Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0030425 dendrite IEA --
GO:0043025 neuronal cell body IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with RET: view

Pathways & Interactions for RET Gene

SuperPathways for RET Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Developmental Biology
3 Immune System
4 Signaling by GPCR
5 Central carbon metabolism in cancer
genes like me logo Genes that share pathways with RET: view

Pathways by source for RET Gene

SIGNOR curated interactions for RET Gene

Activates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for RET Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001755 neural crest cell migration IEA --
GO:0001838 embryonic epithelial tube formation IEA --
GO:0006468 protein phosphorylation IEA,TAS 7824936
GO:0007165 signal transduction TAS 7824936
genes like me logo Genes that share ontologies with RET: view

Drugs & Compounds for RET Gene

(67) Drugs for RET Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
regorafenib Approved Pharma inhibitor, Target Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
imatinib Approved Pharma inhibitor, Target Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 0
Sorafenib Approved, Investigational Pharma inhibitors, inhibitor, Target Raf kinases and tyrosine kinases inhibitor, RAF, VEGFR2, and PDGFR-beta inhibitors, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 677
cabozantinib Approved Pharma inhibitor, Target, antagonist Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
ponatinib Approved Pharma inhibitor, Target Kinase Inhibitors, Fibroblast growth factor receptor (FGFR)inhibitors 30

(21) Additional Compounds for RET Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(8) ApexBio Compounds for RET Gene

Compound Action Cas Number
Amuvatinib (MP-470, HPK 56) Tyrosine kinase inhibitor 850879-09-3
Apatinib VEGFR2 inhibitor, orally bioavailable, selective 811803-05-1
Cabozantinib (XL184, BMS-907351) VEGFR2/Met/Ret/Kit/FLT//AXL inhibitor 849217-68-1
Danusertib (PHA-739358) Pan-aurora kinase inhibitor 827318-97-8
Regorafenib Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1 755037-03-7
Regorafenib monohydrate Tyrosine kinase inhibitor 1019206-88-2
SU5416 VEGF receptor inhibitor and AHR agonist 204005-46-9
TG101209 JAK2/3 inhibitor 936091-14-4
genes like me logo Genes that share compounds with RET: view

Transcripts for RET Gene

Unigene Clusters for RET Gene

Ret proto-oncogene:
Representative Sequences:

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

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: - - - - - - - -

Relevant External Links for RET Gene

GeneLoc Exon Structure for
RET
ECgene alternative splicing isoforms for
RET

Expression for RET Gene

mRNA expression in normal human tissues for RET Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RET Gene

This gene is overexpressed in Brain - Substantia nigra (x7.2).

Protein differential expression in normal tissues from HIPED for RET Gene

This gene is overexpressed in Cervix (61.5) and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RET Gene



SOURCE GeneReport for Unigene cluster for RET Gene Hs.350321

genes like me logo Genes that share expression patterns with RET: view

Protein tissue co-expression partners for RET Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for RET Gene

Orthologs for RET Gene

This gene was present in the common ancestor of animals.

Orthologs for RET Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RET 35
  • 87.04 (n)
  • 87.38 (a)
RET 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RET 35
  • 86.4 (n)
  • 86.88 (a)
RET 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ret 35
  • 82.78 (n)
  • 83.47 (a)
Ret 16
Ret 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RET 35
  • 96.18 (n)
  • 95 (a)
RET 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ret 35
  • 83.33 (n)
  • 85.37 (a)
oppossum
(Monodelphis domestica)
Mammalia RET 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RET 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves RET 36
  • 68 (a)
OneToOne
RET 35
  • 66.44 (n)
  • 67.5 (a)
lizard
(Anolis carolinensis)
Reptilia RET 36
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ret-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ret 35
  • 64.3 (n)
  • 63.07 (a)
zebrafish
(Danio rerio)
Actinopterygii ret 35
  • 63.74 (n)
  • 61.46 (a)
ret1 35
ret 36
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ret 37
  • 40 (a)
tor 37
  • 49 (a)
Ret 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C24G6.2a 37
  • 37 (a)
C24G6.2b 37
  • 37 (a)
F09A5.2 37
  • 33 (a)
F09G2.1 37
  • 27 (a)
F59A3.8 37
  • 30 (a)
kin-16 37
  • 33 (a)
kin-9 37
  • 36 (a)
R09D1.12 37
  • 29 (a)
R151.4 37
  • 39 (a)
ver-4 37
  • 33 (a)
W01B6.5 37
  • 30 (a)
Y38H6C.20 37
  • 31 (a)
Y50D4B.6 37
  • 33 (a)
Species with no ortholog for RET:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RET Gene

ENSEMBL:
Gene Tree for RET (if available)
TreeFam:
Gene Tree for RET (if available)

Paralogs for RET Gene

genes like me logo Genes that share paralogs with RET: view

Variants for RET Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for RET Gene

P07949-RET_HUMAN
The Cys-982 polymorphism may be associated with an increased risk for developing Hirschsprung disease.

Sequence variations from dbSNP and Humsavar for RET Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs76764689 Hirschsprung disease 1 (HSCR1) 43,100,480(+) CTTCT(C/T)GAGGG reference, missense
rs77596424 Hirschsprung disease 1 (HSCR1) 43,100,576(+) GGTGC(C/T)CAGCT reference, missense
VAR_006297 -
VAR_006298 Hirschsprung disease 1 (HSCR1)
rs79661516 Hirschsprung disease 1 (HSCR1) 43,105,018(+) GGACC(A/G)CGAGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RET Gene

Variant ID Type Subtype PubMed ID
dgv644n71 CNV Loss 21882294
nsv522592 CNV Loss 19592680
nsv825350 CNV Gain 20364138
nsv522566 CNV Loss 19592680
esv275022 CNV Gain+Loss 21479260

Variation tolerance for RET Gene

Residual Variation Intolerance Score: 11.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.47; 77.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RET Gene

HapMap Linkage Disequilibrium report
RET
Human Gene Mutation Database (HGMD)
RET

Disorders for RET Gene

MalaCards: The human disease database

(85) MalaCards diseases for RET Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
multiple endocrine neoplasia iia
  • multiple endocrine neoplasia type 2a
medullary thyroid carcinoma, familial
  • medullary thyroid carcinoma
multiple endocrine neoplasia iib
  • multiple endocrine neoplasia type 2b
hirschsprung disease 1
  • hirschsprung's disease
central hypoventilation syndrome, congenital
  • central hypoventilation syndrome, congenital, with or without hirschsprung disease
- elite association - COSMIC cancer census association via MalaCards
Search RET in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RET_HUMAN
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: 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. {ECO:0000269 PubMed:12086152, ECO:0000269 PubMed:14566559, ECO:0000269 PubMed:9497256}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hirschsprung disease 1 (HSCR1) [MIM:142623]: A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child. {ECO:0000269 PubMed:10090908, ECO:0000269 PubMed:10484767, ECO:0000269 PubMed:10618407, ECO:0000269 PubMed:22174939, ECO:0000269 PubMed:7581377, ECO:0000269 PubMed:7633441, ECO:0000269 PubMed:7704557, ECO:0000269 PubMed:7881414, ECO:0000269 PubMed:8114938, ECO:0000269 PubMed:8114939, ECO:0000269 PubMed:9043870, ECO:0000269 PubMed:9090527, ECO:0000269 PubMed:9094028, ECO:0000269 PubMed:9259198, ECO:0000269 PubMed:9384613, ECO:0000269 Ref.56}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Medullary thyroid carcinoma (MTC) [MIM:155240]: 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. {ECO:0000269 PubMed:10323403, ECO:0000269 PubMed:10826520, ECO:0000269 PubMed:11692159, ECO:0000269 PubMed:7784092, ECO:0000269 PubMed:7845675, ECO:0000269 PubMed:7849720, ECO:0000269 PubMed:7874109, ECO:0000269 PubMed:7881414, ECO:0000269 PubMed:7915165, ECO:0000269 PubMed:8103403, ECO:0000269 PubMed:8557249, ECO:0000269 PubMed:8625130, ECO:0000269 PubMed:8807338, ECO:0000269 PubMed:9223675, ECO:0000269 PubMed:9259198, ECO:0000269 PubMed:9398735, ECO:0000269 PubMed:9452077, ECO:0000269 PubMed:9506724, ECO:0000269 PubMed:9621513, ECO:0000269 PubMed:9677065}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple neoplasia 2A (MEN2A) [MIM:171400]: The most frequent form of medullary thyroid cancer (MTC). It is an inherited cancer syndrome characterized by MTC, phaeochromocytoma and/or hyperparathyroidism. {ECO:0000269 PubMed:10522989, ECO:0000269 PubMed:7860065, ECO:0000269 PubMed:7874109, ECO:0000269 PubMed:7881414, ECO:0000269 PubMed:8099202, ECO:0000269 PubMed:8626834, ECO:0000269 PubMed:8807338, ECO:0000269 PubMed:9097963, ECO:0000269 PubMed:9384613, ECO:0000269 PubMed:9452064}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiple neoplasia 2B (MEN2B) [MIM:162300]: Uncommon inherited cancer syndrome characterized by predisposition to MTC and phaeochromocytoma which is associated with marfanoid habitus, mucosal neuromas, skeletal and ophthalmic 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. {ECO:0000269 PubMed:7906417, ECO:0000269 PubMed:7906866, ECO:0000269 PubMed:7911697, ECO:0000269 PubMed:8595427, ECO:0000269 PubMed:8807338, ECO:0000269 PubMed:9294615, ECO:0000269 PubMed:9360560}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Mutations in RET have been detected in patients with renal agenesis suggesting a possible involvement of this gene in disease pathogenesis.
  • Note=Various chromosomal aberrations involving RET are known. Some of them have been found in papillary thyroid carcinomas (PTCs) (PubMed:12787916, PubMed:2406025, PubMed:10980597, PubMed:10439047). Inversion inv(10)(q11.2;q21) generates the RET/CCDC6 (PTC1) oncogene (PubMed:2406025). 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 (PubMed:2734021). Translocation t(8;10)(p21.3;q11.2) with PCM1 generates the PCM1/RET fusion (PubMed:10980597). Translocation t(6;10)(p21.3;q11.2) with TRIM27/RFP generates the Delta RFP/RET oncogene (PubMed:12787916). Translocation t(1;10)(p13;q11) with TRIM33 generates the TRIM33/RET (PTC7) oncogene (PubMed:10439047). Translocation t(7;10)(q32;q11) with TRIM24/TIF1 generates the TRIM24/RET (PTC6) oncogene (PubMed:10439047). Translocation t(6;10)(p21.3;q11.2) with TRIM27/RFP generates the TRIM27/RET oncogene (PubMed:3037315). {ECO:0000269 PubMed:10439047, ECO:0000269 PubMed:10980597, ECO:0000269 PubMed:12787916, ECO:0000269 PubMed:2406025, ECO:0000269 PubMed:2734021, ECO:0000269 PubMed:3037315}.
  • Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. {ECO:0000269 PubMed:12000816}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for RET

Genetic Association Database (GAD)
RET
Human Genome Epidemiology (HuGE) Navigator
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Tumor Gene Database (TGDB):
RET
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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Publications for RET Gene

  1. A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. (PMID: 10522989) Tessitore A. … Colantuoni V. (J. Clin. Endocrinol. Metab. 1999) 3 4 48 67
  2. Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease. (PMID: 20089534) Miao X. … Garcia-BarcelA^ M. (Hum. Mol. Genet. 2010) 3 23
  3. A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation. (PMID: 20119574) Jung J. … Park H. (J. Korean Med. Sci. 2010) 3 23
  4. Expression of GDNF receptors GFRalpha1 and RET is preserved in substantia nigra pars compacta of aging Asian Indians. (PMID: 20347960) Alladi P.A. … Muthane U. (J. Chem. Neuroanat. 2010) 3 23
  5. Proteomics study of medullary thyroid carcinomas expressing RET germ-line mutations: identification of new signaling elements. (PMID: 18756447) Gorla L. … Bongarzone I. (Mol. Carcinog. 2009) 3 23

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