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mutLBSgeneDB |
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| Gene summary for NTRK2 |
 Gene summary |
| Basic gene Info. | Gene symbol | NTRK2 |
| Gene name | neurotrophic tyrosine kinase, receptor, type 2 | |
| Synonyms | GP145-TrkB|TRKB|trk-B | |
| Cytomap | UCSC genome browser: 9q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001007097.2, NM_001018064.2,NM_001018065.2,NM_001018066.2,NM_001291937.1, NM_006180.4, | |
| Description | BDNF-tropomyosine receptor kinase BBDNF/NT-3 growth factors receptortropomyosin-related kinase Btyrosine kinase receptor B | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600456 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000148053 | ||
| HPRD : 02712 | ||
| Vega : OTTHUMG00000020120 | ||
| Protein | UniProt: Q16620 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NTRK2 | |
| BioGPS: 4915 | ||
| Pathway | NCI Pathway Interaction Database: NTRK2 | |
| KEGG: NTRK2 | ||
| REACTOME: NTRK2 | ||
| Pathway Commons: NTRK2 | ||
| Context | iHOP: NTRK2 | |
| ligand binding site mutation search in PubMed: NTRK2 | ||
| UCL Cancer Institute: NTRK2 | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for NTRK2. | 1. Gray, J., Yeo, G., Hung, C., Keogh, J., Clayton, P., Banerjee, K., ... & Farooqi, I. S. (2007). Functional characterization of human NTRK2 mutations identified in patients with severe early-onset obesity. International journal of obesity, 31(2), 359-364. 16702999 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for NTRK2 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F672,H674 | V673M | BRCA | 1 | H674 | R675H | COAD | 1 | L544 | E543G | COAD | 1 | K572 | T573I | GBM | 1 | L544 | E543D | LUAD | 1 | L544 | G545S | LUAD | 1 | H674 | R675C | OV | 1 | M620 | M620V | STAD | 1 | V601 | K602T | STAD | 1 | F672,H674 | V673M | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for NTRK2 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | L544 | E543G | -1.507436 | L544 | E543D | -1.3493145 | F672 | V673M | -1.3446437 | H674 | V673M | -1.3446437 | M620 | M620V | -0.88280745 | V601 | K602T | -0.61297888 | K572 | T573I | -0.51013746 | H674 | R675H | -0.47887189 | L544 | G545S | -0.36138778 | H674 | R675C | -0.23076928 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for NTRK2 from PDB |
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| Differential gene expression and gene-gene network for NTRK2 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for NTRK2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027819 | Neuroblastoma | 11 | Biomarker |
| umls:C0028754 | Obesity | 5 | Biomarker |
| umls:C0005586 | Bipolar Disorder | 3 | Biomarker, GeneticVariation |
| umls:C0004352 | Autistic Disorder | 2 | Biomarker, GeneticVariation |
| umls:C0020505 | Hyperphagia | 2 | Biomarker |
| umls:C0236736 | Cocaine-Related Disorders | 2 | Biomarker |
| umls:C0424295 | Hyperkinesis | 2 | Biomarker |
| umls:C0038220 | Status Epilepticus | 2 | Biomarker |
| umls:C3151303 | Obesity, Hyperphagia, and Developmental Delay | 1 | GeneticVariation |
| umls:C0004114 | Astrocytoma | 1 | Biomarker |
| umls:C0008073 | Developmental Disabilities | 1 | Biomarker |
| umls:C0017638 | Glioma | 1 | Biomarker |
| umls:C0752347 | Lewy Body Disease | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for NTRK2 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00321 | Amitriptyline | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NTRK2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of NTRK2 |
| Multiple alignments for Q16620 in multiple species |
| LBS | AA sequence | # species | Species | A570 | DKILVAVKTLK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | D694 | LVKIGDFGMSR | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | E588 | KDFHREAELLT | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | E618 | LIMVFEYMKHG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | F549 | LGEGAFGKVFL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | F617 | PLIMVFEYMKH | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | F672 | LASQHFVHRDL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | F695 | VKIGDFGMSRD | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G623 | EYMKHGDLNKF | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G693 | LLVKIGDFGMS | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | H674 | SQHFVHRDLAT | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | I600 | LQHEHIVKFYG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | I692 | NLLVKIGDFGM | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K572 | ILVAVKTLKDA | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K621 | VFEYMKHGDLN | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | L544 | VLKRELGEGAF | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | L592 | REAELLTNLQH | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | L595 | ELLTNLQHEHI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | L683 | ATRNCLVGENL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | M620 | MVFEYMKHGDL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | N681 | DLATRNCLVGE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | V601 | QHEHIVKFYGV | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Y619 | IMVFEYMKHGD | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus |
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