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mutLBSgeneDB |
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| Gene summary for TPH2 |
 Gene summary |
| Basic gene Info. | Gene symbol | TPH2 |
| Gene name | tryptophan hydroxylase 2 | |
| Synonyms | ADHD7|NTPH | |
| Cytomap | UCSC genome browser: 12q21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_173353.3, | |
| Description | neuronal tryptophan hydroxylasetryptophan 5-hydroxylase 2tryptophan 5-monooxygenase 2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607478 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000139287 | ||
| HPRD : 09594 | ||
| Vega : OTTHUMG00000169677 | ||
| Protein | UniProt: Q8IWU9 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TPH2 | |
| BioGPS: 121278 | ||
| Pathway | NCI Pathway Interaction Database: TPH2 | |
| KEGG: TPH2 | ||
| REACTOME: TPH2 | ||
| Pathway Commons: TPH2 | ||
| Context | iHOP: TPH2 | |
| ligand binding site mutation search in PubMed: TPH2 | ||
| UCL Cancer Institute: TPH2 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| 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 TPH2 |
| 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 | H318 | T316I | COAD | 1 | H318 | H318R | LUSC | 1 | H318 | T316R | OV | 1 | H323 | P325S | SKCM | 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 TPH2 |
| 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 | H318 | H318R | 0.43128684 | H318 | T316R | -0.97707674 | H318 | T316I | -0.81948437 | H323 | P325S | -0.3763579 |
| (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 TPH2 from PDB |
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| Differential gene expression and gene-gene network for TPH2 |
| 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 TPH2 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1269683 | Depressive Disorder, Major | 22 | Biomarker, GeneticVariation |
| umls:C0011581 | Depressive Disorder | 22 | Biomarker, GeneticVariation |
| umls:C1263846 | Attention Deficit Disorder with Hyperactivity | 19 | Biomarker, GeneticVariation |
| umls:C0004352 | Autistic Disorder | 7 | Biomarker, GeneticVariation |
| umls:C2751802 | ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 | 1 | GeneticVariation |
| umls:C0015967 | Fever | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for TPH2 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of TPH2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FE | IRON(3+) | 4v06 | A | H318 H323 | FE | IRON(3+) | 4v06 | B | H318 H323 |
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| Conservation information for LBS of TPH2 |
| Multiple alignments for Q8IWU9 in multiple species |
| LBS | AA sequence | # species | Species | E363 | YFFTIEFGLCK | 4 | Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus | H318 | EPDTCHELLGH | 4 | Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus | H323 | HELLGHVPLLA | 4 | Homo sapiens, Macaca mulatta, Mus musculus, Rattus norvegicus |
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