Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5979
Gene name Gene Name - the full gene name approved by the HGNC.
Ret proto-oncogene
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RET
Synonyms (NCBI Gene) Gene synonyms aliases
CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q11.21
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and other related proteins to the encoded receptor stimulates receptor d
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1800858 A>C,G Risk-factor, benign Genic upstream transcript variant, coding sequence variant, synonymous variant
rs2435357 T>C Risk-factor, benign Genic upstream transcript variant, intron variant
rs17158558 C>T Likely-benign, conflicting-interpretations-of-pathogenicity, risk-factor, pathogenic, benign-likely-benign, benign, uncertain-significance Missense variant, coding sequence variant
rs34682185 G>A Not-provided, likely-benign, conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance Missense variant, coding sequence variant
rs55846256 C>A,T Pathogenic, uncertain-significance, likely-benign Missense variant, coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004969 hsa-miR-31-5p Luciferase reporter assay, qRT-PCR 19524507
MIRT005908 hsa-miR-29a-3p qRT-PCR 21169019
MIRT024374 hsa-miR-215-5p Microarray 19074876
MIRT026714 hsa-miR-192-5p Microarray 19074876
MIRT438713 hsa-miR-129-5p qRT-PCR, Western blot 24631532
Transcription factors
Transcription factor Regulation Reference
ESR1 Unknown 21737465;21947652
FOXA1 Unknown 21947652
NKX2-1 Repression 19853745
SOX10 Activation 20977903
SOX10 Unknown 14523991
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0001657 Process Ureteric bud development IEA
GO:0001755 Process Neural crest cell migration IEA
GO:0001838 Process Embryonic epithelial tube formation IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
164761 9967 ENSG00000165731
Protein
UniProt ID P07949
Protein name Proto-oncogene tyrosine-protein kinase receptor Ret (EC 2.7.10.1) (Cadherin family member 12) (Proto-oncogene c-Ret) [Cleaved into: Soluble RET kinase fragment; Extracellular cell-membrane anchored RET cadherin 120 kDa fragment]
Protein function Receptor tyrosine-protein kinase involved in numerous cellular mechanisms including cell proliferation, neuronal navigation, cell migration, and cell differentiation in response to glia cell line-derived growth family factors (GDNF, NRTN, ARTN,
PDB 2IVS , 2IVT , 2IVU , 2IVV , 2X2K , 2X2L , 2X2M , 2X2U , 4CKI , 4CKJ , 4UX8 , 5AMN , 5FM2 , 5FM3 , 6FEK , 6GL7 , 6I82 , 6I83 , 6NE7 , 6NEC , 6NJA , 6Q2J , 6Q2N , 6Q2O , 6Q2R , 6Q2S , 6VHG , 7DU8 , 7DU9 , 7DUA , 7JU5 , 7JU6 , 7NZN , 7RUN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17756 RET_CLD1 29 154 RET Cadherin like domain 1 Domain
PF00028 Cadherin 172 262 Cadherin domain Domain
PF17812 RET_CLD3 265 379 RET Cadherin like domain 3 Domain
PF17813 RET_CLD4 404 507 RET Cadherin like domain 4 Domain
PF07714 PK_Tyr_Ser-Thr 724 1005 Protein tyrosine and serine/threonine kinase Domain
Sequence
MAKATSGAAGLRLLLLLLLPLLGKVALGLYFSRDAYWEKLYVDQAAGTPLLYVHALRDAP
EEVPSFRLGQHLYGTYRTRLHENNWICIQEDTGLLYLNRSLDHSSWEKLSVRNRGFPLLT
VYLKVFLSPTSLREGECQWPGCARVYFSFFNTSF
PACSSLKPRELCFPETRPSFRIRENR
PPGTFHQFRLLPVQFLCPNISVAYRLLEGEGLPFRCAPDSLEVSTRWALDREQREKYELV
AVCTVHAGAREEVVMVPFPVTV
YDEDDSAPTFPAGVDTASAVVEFKRKEDTVVATLRVFD
ADVVPASGELVRRYTSTLLPGDTWAQQTFRVEHWPNETSVQANGSFVRATVHDYRLVLNR
NLSISENRTMQLAVLVNDS
DFQGPGAGVLLLHFNVSVLPVSLHLPSTYSLSVSRRARRFA
QIGKVCVENCQAFSGINVQYKLHSSGANCSTLGVVTSAEDTSGILFVNDTKALRRPKCAE
LHYMVVATDQQTSRQAQAQLLVTVEGS
YVAEEAGCPLSCAVSKRRLECEECGGLGSPTGR
CEWRQGDGKGITRNFSTCSPSTKTCPDGHCDVVETQDINICPQDCLRGSIVGGHEPGEPR
GIKAGYGTCNCFPEEEKCFCEPEDIQDPLCDELCRTVIAAAVLFSFIVSVLLSAFCIHCY
HKFAHKPPISSAEMTFRRPAQAFPVSYSSSGARRPSLDSMENQVSVDAFKILEDPKWEFP
RKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLK
QVNHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDH
PDERALTMGDLISFAWQISQGMQYLAEMKLVHRDLAARNILVAEGRKMKISDFGLSRDVY
EEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERL
FNLLKTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDL
EKMMVKRRDYLDLAA
STPSDSLIYDDGLSEEETPLVDCNNAPLPRALPSTWIENKLYGMSDPNWPGESPVPLTRA
DGTNTGFPRYPNDSVYANWMLSPSAAKLMDTFDS
Sequence length 1114
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
Calcium signaling pathway
PI3K-Akt signaling pathway
Pathways in cancer
Thyroid cancer
Non-small cell lung cancer
Central carbon metabolism in cancer
  RAF/MAP kinase cascade
RET signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hirschsprung Disease Hirschsprung disease, susceptibility to, 1 rs75076352, rs75996173, rs193922699, rs76262710, rs1588873476, rs76534745, rs77316810, rs1588866040, rs76764689, rs377767412, rs75030001, rs1838178869, rs76449634 N/A
Medullary thyroid carcinoma familial medullary thyroid carcinoma rs377767434, rs146646971, rs77503355, rs77558292, rs78014899, rs75996173, rs79781594, rs77939446, rs76262710, rs79658334, rs75030001, rs75873440, rs75076352, rs75234356 N/A
medullary thyroid carcinoma Medullary thyroid carcinoma rs74799832, rs143795581 N/A
Multiple Endocrine Neoplasia Multiple endocrine neoplasia, type 2 rs377767398, rs75076352, rs75234356, rs76449634, rs377767429, rs75996173, rs377767396, rs146646971, rs1060500759, rs377767391, rs377767440, rs1564500612, rs77558292, rs77709286, rs377767397
View all (23 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Appendicitis appendicitis N/A N/A ClinVar
Breast Cancer Malignant tumor of breast N/A N/A ClinVar
Congenital anomalies of kidney and urinary tract Congenital anomaly of kidney and urinary tract N/A N/A ClinVar
Congenital Central Hypoventilation congenital central hypoventilation N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 22270996
Abortion Habitual Associate 23583422
Accidental Injuries Associate 15812549
Achondroplasia Associate 22879958, 30355600
Acquired Immunodeficiency Syndrome Associate 15557181
Acrocephalosyndactylia Associate 22879958
Actin Accumulation Myopathy Associate 27717313
Acute On Chronic Liver Failure Associate 25479139
Adenocarcinoma Associate 20237991, 20696054, 23298489, 23479507, 24037524, 24504365, 26315110, 26317919, 28460442, 30131091, 36153371, 40300279
Adenocarcinoma Follicular Associate 23025542