Human Gene NTRK3 (ENST00000394480.6) from GENCODE V44
Description: Homo sapiens neurotrophic receptor tyrosine kinase 3 (NTRK3), transcript variant 2, mRNA. (from RefSeq NM_002530)
RefSeq Summary (NM_002530): This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011].
Gencode Transcript: ENST00000394480.6
Gencode Gene: ENSG00000140538.17
Transcript (Including UTRs)
Position: hg38 chr15:87,859,751-88,256,747 Size: 396,997 Total Exon Count: 19 Strand: -
Coding Region
Position: hg38 chr15:87,876,935-88,256,153 Size: 379,219 Coding Exon Count: 17
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: NTRK3
Diseases sorted by gene-association score: cerebral sarcoma * (350), differentiated thyroid carcinoma * (350), congenital mesoblastic nephroma * (266), congenital fibrosarcoma (25), pediatric fibrosarcoma (18), fibrosarcoma (17), breast secretory carcinoma (17), cellular congenital mesoblastic nephroma (17), adult fibrosarcoma (16), adult mesoblastic nephroma (16), birth defects (13), medulloblastoma (12), childhood medulloblastoma (9), mast-cell leukemia (9), gastrointestinal stromal tumor (9), spindle cell sarcoma (9), type c thymoma (8), adenocarcinoma (7), hypertrophic pyloric stenosis (7), anhidrosis (7), pyloric stenosis (6), malignant mesenchymoma (5), mast cell neoplasm (5), polymorphous low-grade adenocarcinoma (5), infratentorial cancer (5), cerebral cavernous malformations-2 (4), tetralogy of fallot (2), hirschsprung disease 1 (2), breast cancer (2), connective tissue cancer (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
S76475 - trkC [human, brain, mRNA, 2715 nt].AK297160 - Homo sapiens cDNA FLJ60676 complete cds, highly similar to NT-3 growth factor receptor precursor (EC 2.7.10.1).AF052184 - Homo sapiens clone 24817 mRNA sequence.U05012 - Homo sapiens receptor tyrosine kinase TrkC (NTRK3) mRNA, complete cds.AK313646 - Homo sapiens cDNA, FLJ94223.KJ534904 - Homo sapiens clone NTRK3_iso-B_adult-A01 neurotrophic tyrosine kinase receptor type 3 isoform B (NTRK3) mRNA, partial cds, alternatively spliced.KJ534905 - Homo sapiens clone NTRK3_iso-C_adult-A02 neurotrophic tyrosine kinase receptor type 3 isoform C (NTRK3) mRNA, partial cds, alternatively spliced.KJ534906 - Homo sapiens clone NTRK3_iso-D_fetal-F07 neurotrophic tyrosine kinase receptor type 3 isoform D (NTRK3) mRNA, partial cds, alternatively spliced.KJ535052 - Homo sapiens clone NTRK3_iso-A_fetal-F14 neurotrophic tyrosine kinase receptor type 3 isoform A (NTRK3) mRNA, complete cds, alternatively spliced.AK302504 - Homo sapiens cDNA FLJ55664 complete cds, highly similar to NT-3 growth factor receptor precursor (EC2.7.10.1).AK309695 - Homo sapiens cDNA, FLJ99736.S76476 - trkC {alternatively spliced} [human, brain, mRNA, 2225 nt].BC013693 - Homo sapiens neurotrophic tyrosine kinase, receptor, type 3, mRNA (cDNA clone MGC:17113 IMAGE:4181574), complete cds.BT007291 - Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 mRNA, complete cds.KJ897266 - Synthetic construct Homo sapiens clone ccsbBroadEn_06660 NTRK3 gene, encodes complete protein.AB384872 - Synthetic construct DNA, clone: pF1KB3902, Homo sapiens NTRK3 gene for NT-3 growth factor receptor precursor, complete cds, without stop codon, in Flexi system.AF125809 - Homo sapiens neurotrophic receptor tyrosine kinase-ETS related protein fusion protein (NTRK3-ETV6 fusion) mRNA, partial cds.CU680654 - Synthetic construct Homo sapiens gateway clone IMAGE:100020771 5' read NTRK3 mRNA.AL109700 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 51358.AK094929 - Homo sapiens cDNA FLJ37610 fis, clone BRCOC2011398.AL109696 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 21920.DQ571824 - Homo sapiens piRNA piR-31936, complete sequence.DQ571825 - Homo sapiens piRNA piR-31937, complete sequence.DQ571826 - Homo sapiens piRNA piR-31938, complete sequence.AF041811 - Homo sapiens ETS related protein-growth factor receptor tyrosine kinase fusion proteins (ETV6-NTRK3 fusion) mRNA, partial cds.JD399712 - Sequence 380736 from Patent EP1572962.JD132828 - Sequence 113852 from Patent EP1572962.JD398540 - Sequence 379564 from Patent EP1572962.JD528175 - Sequence 509199 from Patent EP1572962.JD314872 - Sequence 295896 from Patent EP1572962.AF125808 - Homo sapiens ETS related protein-neurotrophic receptor tyrosine kinase fusion protein (ETV6-NTRK3 fusion) mRNA, partial cds.AY065844 - Homo sapiens truncated receptor tyrosine kinase TrkC mRNA, partial cds.AF058390 - Homo sapiens neurotrophin 3 receptor truncated isoform (NTRK3) mRNA, partial cds.DQ323596 - Homo sapiens clone 5 tyrosine kinase receptor isoform C mRNA, partial cds.AF058389 - Homo sapiens neurotrophin 3 receptor (NTRK3) mRNA, partial cds.BC128249 - Homo sapiens olfactory receptor, family 1, subfamily A, member 1, mRNA (cDNA clone IMAGE:40114772).JD235415 - Sequence 216439 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04722 - Neurotrophin signaling pathway
Other Names for This Gene
Alternate Gene Symbols: ENST00000394480.1, ENST00000394480.2, ENST00000394480.3, ENST00000394480.4, ENST00000394480.5, NM_002530, uc002bmf.1, uc002bmf.2, uc002bmf.3, X5D7M5UCSC ID: ENST00000394480.6RefSeq Accession: NM_002530
CCDS: CCDS10340.1 , CCDS32322.1 , CCDS58399.1
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.