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 -
2 REVIEWED NM_001406777.1 NP_001393706.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
3 REVIEWED NM_001406778.1 NP_001393707.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
4 REVIEWED NM_001406779.1 NP_001393708.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
5 REVIEWED NM_001406780.1 NP_001393709.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
6 REVIEWED NM_001406781.1 NP_001393710.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
7 REVIEWED NM_001406782.1 NP_001393711.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
8 REVIEWED NM_001406783.1 NP_001393712.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
9 REVIEWED NM_001406784.1 NP_001393713.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
10 REVIEWED NM_001406785.1 NP_001393714.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
11 REVIEWED NM_001406786.1 NP_001393715.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
12 REVIEWED NM_001406776.1 NP_001393705.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
13 REVIEWED NM_001406788.1 NP_001393717.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
14 REVIEWED NM_001406789.1 NP_001393718.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
15 REVIEWED NM_001406790.1 NP_001393719.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
16 REVIEWED NM_001406791.1 NP_001393720.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
17 REVIEWED NM_001406792.1 NP_001393721.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
18 REVIEWED NM_001406793.1 NP_001393722.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
19 REVIEWED NM_001406794.1 NP_001393723.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
20 REVIEWED NM_020630.7 NP_065681.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
21 REVIEWED NM_020975.6 NP_066124.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
22 REVIEWED NM_001406766.1 NP_001393695.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
23 REVIEWED NM_001406743.1 NP_001393672.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
24 REVIEWED NM_001406744.1 NP_001393673.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
25 REVIEWED NM_001406759.1 NP_001393688.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
26 REVIEWED NM_001406760.1 NP_001393689.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
27 REVIEWED NM_001406761.1 NP_001393690.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
28 REVIEWED NM_001406762.1 NP_001393691.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
29 REVIEWED NM_001406763.1 NP_001393692.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
30 REVIEWED NM_001406764.1 NP_001393693.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
31 REVIEWED NM_001406765.1 NP_001393694.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
32 REVIEWED NM_001355216.2 NP_001342145.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
33 REVIEWED NM_001406767.1 NP_001393696.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
34 REVIEWED NM_001406768.1 NP_001393697.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
35 REVIEWED NM_001406769.1 NP_001393698.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
36 REVIEWED NM_001406770.1 NP_001393699.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
37 REVIEWED NM_001406771.1 NP_001393700.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
38 REVIEWED NM_001406772.1 NP_001393701.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
39 REVIEWED NM_001406773.1 NP_001393702.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
40 REVIEWED NM_001406774.1 NP_001393703.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -
41 REVIEWED NM_001406775.1 NP_001393704.1 NC_000010.11 (43077068..43130350) Reference GRCh38.p14 Primary Assembly -

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 1995 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 sapiensIEAenablesnucleotide bindingFunction
2Homo sapiensIEAenablesprotein kinase activityFunction
3Homo sapiensIEAenablesprotein tyrosine kinase activityFunction
4Homo sapiensTASenablesprotein tyrosine kinase activityFunction7824936 
5Homo sapiensIBAenablestransmembrane receptor protein tyrosine kinase activityFunction
6Homo sapiensIDAenablestransmembrane receptor protein tyrosine kinase activityFunction24560924 28846099 31535977 
7Homo sapiensIEAenablestransmembrane receptor protein tyrosine kinase activityFunction
8Homo sapiensTASenablestransmembrane receptor protein tyrosine kinase activityFunction
9Homo sapiensIDAenablescalcium ion bindingFunction9575150 11445581 
10Homo sapiensIEAenablescalcium ion bindingFunction
11Homo sapiensIPIenablesprotein bindingFunction10545102 11536047 12727845 
15677445 16569669 17471236 
20877310 21994944 25241761 
25416956 25910212 28846097 
28846099 28953886 35044719 
35384245 39009827 
12Homo sapiensIEAenablesATP bindingFunction
13Homo sapiensIBAis_active_inplasma membraneComponent
14Homo sapiensIDAis_active_inplasma membraneComponent9575150 
15Homo sapiensIDAlocated_inplasma membraneComponent19823924 28953886 
16Homo sapiensIEAlocated_inplasma membraneComponent
17Homo sapiensTASlocated_inplasma membraneComponent
18Homo sapiensIEAinvolved_incell adhesionProcess
19Homo sapiensIEAinvolved_inhomophilic cell-cell adhesionProcess
20Homo sapiensIEAinvolved_inneuron cell-cell adhesionProcess
21Homo sapiensIMPinvolved_inneuron cell-cell adhesionProcess21357690 
22Homo sapiensTASinvolved_insignal transductionProcess7824936 
23Homo sapiensIBAinvolved_incell surface receptor protein tyrosine kinase signaling pathwayProcess
24Homo sapiensIEAinvolved_innervous system developmentProcess
25Homo sapiensTASinvolved_inaxon guidanceProcess
26Homo sapiensTASinvolved_inposterior midgut developmentProcess8114939 
27Homo sapiensIDAlocated_inendosome membraneComponent19823924 
28Homo sapiensIEAlocated_inendosome membraneComponent
29Homo sapiensIMPinvolved_inpositive regulation of neuron projection developmentProcess17910947 
30Homo sapiensIEAlocated_inmembraneComponent
31Homo sapiensIEAenableskinase activityFunction
32Homo sapiensIEAenablestransferase activityFunction
33Homo sapiensIDAinvolved_inregulation of cell adhesionProcess21357690 
34Homo sapiensIDAinvolved_inpositive regulation of cell migrationProcess20702524 
35Homo sapiensIBAis_active_inaxonComponent
36Homo sapiensIDAinvolved_inmembrane protein proteolysisProcess21357690 
37Homo sapiensIDAinvolved_inpositive regulation of cell adhesion mediated by integrinProcess20702524 
38Homo sapiensIDAinvolved_inglial cell-derived neurotrophic factor receptor signaling pathwayProcess24560924 25242331 28953886 
31535977 
39Homo sapiensTASenablessignaling receptor activityFunction7824936 
40Homo sapiensIBApart_ofreceptor complexComponent
41Homo sapiensIDApart_ofreceptor complexComponent23382219 
42Homo sapiensIDAinvolved_inpositive regulation of MAPK cascadeProcess28846099 
43Homo sapiensIMPinvolved_inpositive regulation of MAPK cascadeProcess28953886 
44Homo sapiensIEAinvolved_inpositive regulation of DNA-templated transcriptionProcess
45Homo sapiensISSinvolved_inpositive regulation of DNA-templated transcriptionProcess17047028 
46Homo sapiensIEAinvolved_inresponse to painProcess
47Homo sapiensISSinvolved_inresponse to painProcess
48Homo sapiensIMPinvolved_inpositive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transductionProcess28846097 
49Homo sapiensIEAinvolved_inPeyer's patch morphogenesisProcess
50Homo sapiensISSinvolved_inPeyer's patch morphogenesisProcess
51Homo sapiensIMPinvolved_incellular response to retinoic acidProcess17910947 
52Homo sapiensIEAinvolved_inpositive regulation of metanephric glomerulus developmentProcess
53Homo sapiensISSinvolved_inpositive regulation of metanephric glomerulus developmentProcess17047028 
54Homo sapiensISSinvolved_inlymphocyte migration into lymphoid organsProcess
55Homo sapiensIDApart_ofplasma membrane protein complexComponent10545102 
56Homo sapiensIDAinvolved_inGDF15-GFRAL signaling pathwayProcess31535977 
57Homo sapiensIMPinvolved_inpositive regulation of extrinsic apoptotic signaling pathway in absence of ligandProcess10921886 
58Homo sapiensTASinvolved_inpositive regulation of extrinsic apoptotic signaling pathway in absence of ligandProcess21357690