GenTIGSA Gene Database on Rare Genetic Disorders

Ret proto-oncogene (RET) Associated conditions:  1. Hirschsprung disease  2. Familial medullary thyroid carcinoma 
mRNA Information: Transcript Variants and Protein Isoforms
SNo. Status mRNA accession Protein accession Genomic DNA accession (Chromosome) mRNA location on genomic DNA Assembly UniProtkb ID
1 REVIEWED NM_001406787.1 NP_001393716.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
2 REVIEWED NM_001406777.1 NP_001393706.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
3 REVIEWED NM_001406778.1 NP_001393707.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
4 REVIEWED NM_001406779.1 NP_001393708.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
5 REVIEWED NM_001406780.1 NP_001393709.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
6 REVIEWED NM_001406781.1 NP_001393710.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
7 REVIEWED NM_001406782.1 NP_001393711.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
8 REVIEWED NM_001406783.1 NP_001393712.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
9 REVIEWED NM_001406784.1 NP_001393713.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
10 REVIEWED NM_001406785.1 NP_001393714.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
11 REVIEWED NM_001406786.1 NP_001393715.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
12 REVIEWED NM_001406776.1 NP_001393705.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
13 REVIEWED NM_001406788.1 NP_001393717.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
14 REVIEWED NM_001406789.1 NP_001393718.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
15 REVIEWED NM_001406790.1 NP_001393719.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
16 REVIEWED NM_001406791.1 NP_001393720.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
17 REVIEWED NM_001406792.1 NP_001393721.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
18 REVIEWED NM_001406793.1 NP_001393722.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
19 REVIEWED NM_001406794.1 NP_001393723.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
20 REVIEWED NM_020630.7 NP_065681.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
21 REVIEWED NM_020975.6 NP_066124.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
22 REVIEWED NM_001406766.1 NP_001393695.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
23 REVIEWED NM_001406743.1 NP_001393672.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
24 REVIEWED NM_001406744.1 NP_001393673.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
25 REVIEWED NM_001406759.1 NP_001393688.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
26 REVIEWED NM_001406760.1 NP_001393689.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
27 REVIEWED NM_001406761.1 NP_001393690.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
28 REVIEWED NM_001406762.1 NP_001393691.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
29 REVIEWED NM_001406763.1 NP_001393692.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
30 REVIEWED NM_001406764.1 NP_001393693.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
31 REVIEWED NM_001406765.1 NP_001393694.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
32 REVIEWED NM_001355216.2 NP_001342145.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
33 REVIEWED NM_001406767.1 NP_001393696.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
34 REVIEWED NM_001406768.1 NP_001393697.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
35 REVIEWED NM_001406769.1 NP_001393698.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
36 REVIEWED NM_001406770.1 NP_001393699.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
37 REVIEWED NM_001406771.1 NP_001393700.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
38 REVIEWED NM_001406772.1 NP_001393701.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
39 REVIEWED NM_001406773.1 NP_001393702.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
40 REVIEWED NM_001406774.1 NP_001393703.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949
41 REVIEWED NM_001406775.1 NP_001393704.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly P07949

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)
Link 1966 reference articles

Variant Information Ret proto-oncogene (RETMutation Visualization Dashboard: Pathogenic variant distribution chart

 

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Ret proto-oncogene (RET)
ClinVar variants:Revealing mutagenic patterns

GO Term of Ret proto-oncogene (RET)
SNo. Reported in speceis Evidence Qualifier GO term Category Pubmed Link
1Homo sapiensIEAinvolved_inMAPK cascadeProcess
2Homo sapiensIEAinvolved_inureteric bud developmentProcess
3Homo sapiensIEAinvolved_inneural crest cell migrationProcess
4Homo sapiensIEAinvolved_inembryonic epithelial tube formationProcess
5Homo sapiensTASenablesprotein tyrosine kinase activityFunction7824936 
6Homo sapiensIBAenablestransmembrane receptor protein tyrosine kinase activityFunction21873635 
7Homo sapiensIDAenablestransmembrane receptor protein tyrosine kinase activityFunction28846099 
8Homo sapiensTASenablestransmembrane receptor protein tyrosine kinase activityFunction
9Homo sapiensIDAenablescalcium ion bindingFunction11445581 
10Homo sapiensIPIenablesprotein bindingFunction10545102 11536047 16569669 
17471236 20877310 21994944 
25241761 25416956 28846097 
28846099 28953886 35384245 
11Homo sapiensIEAenablesATP bindingFunction
12Homo sapiensIEAlocated_inearly endosomeComponent
13Homo sapiensIDAlocated_inplasma membraneComponent19823924 28953886 
14Homo sapiensTASlocated_inplasma membraneComponent
15Homo sapiensTASinvolved_inprotein phosphorylationProcess7824936 
16Homo sapiensIEAinvolved_inhomophilic cell adhesion via plasma membrane adhesion moleculesProcess
17Homo sapiensIMPinvolved_inneuron cell-cell adhesionProcess21357690 
18Homo sapiensTASinvolved_insignal transductionProcess7824936 
19Homo sapiensIBAinvolved_intransmembrane receptor protein tyrosine kinase signaling pathwayProcess21873635 
20Homo sapiensIBAinvolved_inmulticellular organism developmentProcess21873635 
21Homo sapiensTASinvolved_inaxon guidanceProcess
22Homo sapiensTASinvolved_inposterior midgut developmentProcess8114939 
23Homo sapiensIEAinvolved_inresponse to xenobiotic stimulusProcess
24Homo sapiensIDAlocated_inendosome membraneComponent19823924 
25Homo sapiensIEAinvolved_inpositive regulation of gene expressionProcess
26Homo sapiensIMPinvolved_inpositive regulation of neuron projection developmentProcess17910947 
27Homo sapiensIEAinvolved_inpositive regulation of neuron maturationProcess
28Homo sapiensIDAinvolved_inregulation of cell adhesionProcess21357690 
29Homo sapiensIDAinvolved_inpositive regulation of cell migrationProcess20702524 
30Homo sapiensIBAis_active_inaxonComponent21873635 
31Homo sapiensIEAlocated_indendriteComponent
32Homo sapiensIEAinvolved_inpositive regulation of peptidyl-serine phosphorylation of STAT proteinProcess
33Homo sapiensIDAinvolved_inmembrane protein proteolysisProcess21357690 
34Homo sapiensIDAinvolved_inpositive regulation of cell adhesion mediated by integrinProcess20702524 
35Homo sapiensIBAinvolved_inpositive regulation of kinase activityProcess21873635 
36Homo sapiensIEAinvolved_inureter maturationProcess
37Homo sapiensIDAinvolved_inglial cell-derived neurotrophic factor receptor signaling pathwayProcess28953886 
38Homo sapiensTASenablessignaling receptor activityFunction7824936 
39Homo sapiensIEAinvolved_inneuron maturationProcess
40Homo sapiensIEAlocated_inneuronal cell bodyComponent
41Homo sapiensIBApart_ofreceptor complexComponent21873635 
42Homo sapiensIDApart_ofreceptor complexComponent23382219 
43Homo sapiensIDAinvolved_inpositive regulation of MAPK cascadeProcess28846099 
44Homo sapiensIMPinvolved_inpositive regulation of MAPK cascadeProcess28953886 
45Homo sapiensIEAinvolved_inpositive regulation of cell sizeProcess
46Homo sapiensISSinvolved_inpositive regulation of DNA-templated transcriptionProcess17047028 
47Homo sapiensISSinvolved_inresponse to painProcess
48Homo sapiensIEAinvolved_inenteric nervous system developmentProcess
49Homo sapiensIEAinvolved_inregulation of axonogenesisProcess
50Homo sapiensIMPinvolved_inpositive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transductionProcess28846097 
51Homo sapiensIEAinvolved_inretina development in camera-type eyeProcess
52Homo sapiensIEAinvolved_ininnervationProcess
53Homo sapiensISSinvolved_inPeyer's patch morphogenesisProcess
54Homo sapiensIMPinvolved_incellular response to retinoic acidProcess17910947 
55Homo sapiensISSinvolved_inpositive regulation of metanephric glomerulus developmentProcess17047028 
56Homo sapiensISSinvolved_inlymphocyte migration into lymphoid organsProcess
57Homo sapiensIDApart_ofplasma membrane protein complexComponent10545102 
58Homo sapiensTASinvolved_inpositive regulation of extrinsic apoptotic signaling pathway in absence of ligandProcess21357690