• Gene id: 5979

Gene Summary

• Gene Symbol: RET   Gene   UCSC   Ensembl
• Aliases: CDHF12, CDHR16, HSCR1, MEN2A, MEN2B, MTC1, PTC, RET-ELE1
• Gene name: ret proto-oncogene
• Alternate names: proto-oncogene tyrosine-protein kinase receptor Ret, RET receptor tyrosine kinase, cadherin family member 12, cadherin-related family member 16, proto-oncogene c-Ret, rearranged during transfection, ret proto-oncogene (multiple endocrine neoplasia and medullary,
• Gene location: 10q11.21 (43077026: 43130350)     Exons: 20     NC_000010.11
• Gene summary(Entrez): 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
• OMIM: 608761

Protein Summary

• Protein general information: P07949  
  • 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]
  • Length: 1114  
  • Mass: 124319
• Sequence:

  MAKATSGAAGLRLLLLLLLPLLGKVALGLYFSRDAYWEKLYVDQAAGTPLLYVHALRDAPEEVPSFRLGQHLYGT
  YRTRLHENNWICIQEDTGLLYLNRSLDHSSWEKLSVRNRGFPLLTVYLKVFLSPTSLREGECQWPGCARVYFSFF
  NTSFPACSSLKPRELCFPETRPSFRIRENRPPGTFHQFRLLPVQFLCPNISVAYRLLEGEGLPFRCAPDSLEVST
  RWALDREQREKYELVAVCTVHAGAREEVVMVPFPVTVYDEDDSAPTFPAGVDTASAVVEFKRKEDTVVATLRVFD
  ADVVPASGELVRRYTSTLLPGDTWAQQTFRVEHWPNETSVQANGSFVRATVHDYRLVLNRNLSISENRTMQLAVL
  VNDSDFQGPGAGVLLLHFNVSVLPVSLHLPSTYSLSVSRRARRFAQIGKVCVENCQAFSGINVQYKLHSSGANCS
  TLGVVTSAEDTSGILFVNDTKALRRPKCAELHYMVVATDQQTSRQAQAQLLVTVEGSYVAEEAGCPLSCAVSKRR
  LECEECGGLGSPTGRCEWRQGDGKGITRNFSTCSPSTKTCPDGHCDVVETQDINICPQDCLRGSIVGGHEPGEPR
  GIKAGYGTCNCFPEEEKCFCEPEDIQDPLCDELCRTVIAAAVLFSFIVSVLLSAFCIHCYHKFAHKPPISSAEMT
  FRRPAQAFPVSYSSSGARRPSLDSMENQVSVDAFKILEDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRA
  GYTTVAVKMLKENASPSELRDLLSEFNVLKQVNHPHVIKLYGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPG
  YLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQYLAEMKLVHRDLAARNILVAEGRKMKISDFGLSRDVY
  EEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFNLLKTGHRMERPDN
  CSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAASTPSDSLIYDDGLSEEETPLVDCNNAPLPR
  ALPSTWIENKLYGMSDPNWPGESPVPLTRADGTNTGFPRYPNDSVYANWMLSPSAAKLMDTFDS

• Structural information:
  • Protein Domains: (168..27-)
    (/note="Cadherin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00043-)
    (724..101-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR002126  IPR015919  IPR011009  IPR000719  IPR017441   IPR041163  IPR040667  IPR041317  IPR001245  IPR008266  IPR020635  IPR016249  
  • Prosite: PS50268 PS00107 PS50011 PS00109
  • PDB: 1XPD 2IVS 2IVT 2IVU 2IVV 2X2K 2X2L 2X2M 2X2U 4CKI 4CKJ 4UX8 5AMN 5FM2 5FM3 6FEK 6GL7 6NE7 6NEC 6NJA 6Q2J 6Q2N 6Q2O 6Q2R 6Q2S
  • PDBsum: 1XPD 2IVS 2IVT 2IVU 2IVV 2X2K 2X2L 2X2M 2X2U 4CKI 4CKJ 4UX8 5AMN 5FM2 5FM3 6FEK 6GL7 6NE7 6NEC 6NJA 6Q2J 6Q2N 6Q2O 6Q2R 6Q2S
  • DIP: 41449
  • STRING: ENSP00000347942
• Other Databases: GeneCards:  RET  Malacards:  RET

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043235	receptor complex	IBA	cellular component
GO:0033674	positive regulation of kinase activity	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IBA	molecular function
GO:0007275	multicellular organism development	IBA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0033630	positive regulation of cell adhesion mediated by integrin	IDA	biological process
GO:0033619	membrane protein proteolysis	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0030155	regulation of cell adhesion	IDA	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IDA	molecular function
GO:0010008	endosome membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0035860	glial cell-derived neurotrophic factor receptor signaling pathway	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0097021	lymphocyte migration into lymphoid organs	ISS	biological process
GO:0061146	Peyer's patch morphogenesis	ISS	biological process
GO:0061146	Peyer's patch morphogenesis	ISS	biological process
GO:0000187	activation of MAPK activity	IMP	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048265	response to pain	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0007497	posterior midgut development	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0043235	receptor complex	IDA	cellular component
GO:0005509	calcium ion binding	IDA	molecular function
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007411	axon guidance	TAS	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014042	positive regulation of neuron maturation	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0001657	ureteric bud development	IEA	biological process
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0007158	neuron cell-cell adhesion	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0042551	neuron maturation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0050770	regulation of axonogenesis	IEA	biological process
GO:0061146	Peyer's patch morphogenesis	IEA	biological process
GO:0072300	positive regulation of metanephric glomerulus development	IEA	biological process
GO:0005769	early endosome	IEA	cellular component
GO:0042493	response to drug	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0060384	innervation	IEA	biological process
GO:0000165	MAPK cascade	IEA	biological process
GO:0001755	neural crest cell migration	IEA	biological process
GO:0001838	embryonic epithelial tube formation	IEA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0033141	positive regulation of peptidyl-serine phosphorylation of STAT protein	IEA	biological process
GO:0035799	ureter maturation	IEA	biological process
GO:0045793	positive regulation of cell size	IEA	biological process
GO:0048265	response to pain	IEA	biological process
GO:0048484	enteric nervous system development	IEA	biological process
GO:0010976	positive regulation of neuron projection development	IMP	biological process
GO:0071300	cellular response to retinoic acid	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0098797	plasma membrane protein complex	IDA	cellular component
GO:2001241	positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	TAS	biological process
GO:0072300	positive regulation of metanephric glomerulus development	ISS	biological process
GO:0045893	positive regulation of transcription, DNA-templated	ISS	biological process
GO:0007158	neuron cell-cell adhesion	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05230	Central carbon metabolism in cancer
hsa05216	Thyroid cancer

Diseases

Associated diseases	References
Thyroid cancer	KEGG:H00032
Malignant paraganglioma	KEGG:H01510
Congenital central hypoventilation syndrome	KEGG:H00916
Medullary thyroid cancer	KEGG:H01592
Multiple endocrine neoplasia syndrome	KEGG:H00247
Hirschsprung disease	KEGG:H00910
Thyroid cancer	KEGG:H00032
Malignant paraganglioma	KEGG:H01510
Congenital central hypoventilation syndrome	KEGG:H00916
Medullary thyroid cancer	KEGG:H01592
Multiple endocrine neoplasia syndrome	KEGG:H00247
Hirschsprung disease	KEGG:H00910
Multiple endocrine neoplasia type 2A	PMID:19719936
Hirschsprung's disease	PMID:24897126
pancreatic cancer	PMID:16269310
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq