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TPH2 (tryptophan hydroxylase 2)

Identity

Alias_symbol (synonym)NTPH
FLJ37295
Other aliasADHD7
HGNC (Hugo) TPH2
LocusID (NCBI) 121278
Atlas_Id 75074
Location 12q21.1  [Link to chromosome band 12q21]
Location_base_pair Starts at 71938846 and ends at 72032441 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TPH2   20692
Cards
Entrez_Gene (NCBI)TPH2  121278  tryptophan hydroxylase 2
AliasesADHD7; NTPH
GeneCards (Weizmann)TPH2
Ensembl hg19 (Hinxton)ENSG00000139287 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139287 [Gene_View]  chr12:71938846-72032441 [Contig_View]  TPH2 [Vega]
ICGC DataPortalENSG00000139287
TCGA cBioPortalTPH2
AceView (NCBI)TPH2
Genatlas (Paris)TPH2
WikiGenes121278
SOURCE (Princeton)TPH2
Genetics Home Reference (NIH)TPH2
Genomic and cartography
GoldenPath hg38 (UCSC)TPH2  -     chr12:71938846-72032441 +  12q21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TPH2  -     12q21.1   [Description]    (hg19-Feb_2009)
EnsemblTPH2 - 12q21.1 [CytoView hg19]  TPH2 - 12q21.1 [CytoView hg38]
Mapping of homologs : NCBITPH2 [Mapview hg19]  TPH2 [Mapview hg38]
OMIM607478   608516   613003   
Gene and transcription
Genbank (Entrez)AK094614 AY098914 BC114442 BC114499
RefSeq transcript (Entrez)NM_173353
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TPH2
Cluster EST : UnigeneHs.736576 [ NCBI ]
CGAP (NCI)Hs.736576
Alternative Splicing GalleryENSG00000139287
Gene ExpressionTPH2 [ NCBI-GEO ]   TPH2 [ EBI - ARRAY_EXPRESS ]   TPH2 [ SEEK ]   TPH2 [ MEM ]
Gene Expression Viewer (FireBrowse)TPH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)121278
GTEX Portal (Tissue expression)TPH2
Human Protein AtlasENSG00000139287-TPH2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IWU9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IWU9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IWU9
Splice isoforms : SwissVarQ8IWU9
Catalytic activity : Enzyme1.14.16.4 [ Enzyme-Expasy ]   1.14.16.41.14.16.4 [ IntEnz-EBI ]   1.14.16.4 [ BRENDA ]   1.14.16.4 [ KEGG ]   
PhosPhoSitePlusQ8IWU9
Domaine pattern : Prosite (Expaxy)ACT (PS51671)    BH4_AAA_HYDROXYL_1 (PS00367)    BH4_AAA_HYDROXYL_2 (PS51410)   
Domains : Interpro (EBI)ACT_dom    ArAA_hydroxylase    ArAA_hydroxylase_Fe/CU_BS    Aromatic-AA_hydroxylase_C    Trp_5_mOase    Tyrosine_3-monooxygenase-like   
Domain families : Pfam (Sanger)Biopterin_H (PF00351)   
Domain families : Pfam (NCBI)pfam00351   
Conserved Domain (NCBI)TPH2
DMDM Disease mutations121278
Blocks (Seattle)TPH2
PDB (SRS)4V06   
PDB (PDBSum)4V06   
PDB (IMB)4V06   
PDB (RSDB)4V06   
Structural Biology KnowledgeBase4V06   
SCOP (Structural Classification of Proteins)4V06   
CATH (Classification of proteins structures)4V06   
SuperfamilyQ8IWU9
Human Protein Atlas [tissue]ENSG00000139287-TPH2 [tissue]
Peptide AtlasQ8IWU9
HPRD09594
IPIIPI01009748   IPI00783677   IPI00333724   
Protein Interaction databases
DIP (DOE-UCLA)Q8IWU9
IntAct (EBI)Q8IWU9
FunCoupENSG00000139287
BioGRIDTPH2
STRING (EMBL)TPH2
ZODIACTPH2
Ontologies - Pathways
QuickGOQ8IWU9
Ontology : AmiGOtryptophan 5-monooxygenase activity  iron ion binding  cytosol  circadian rhythm  aromatic amino acid family metabolic process  response to activity  amino acid binding  response to nutrient levels  serotonin biosynthetic process  neuron projection  response to estrogen  indolalkylamine biosynthetic process  response to glucocorticoid  response to calcium ion  oxidation-reduction process  cellular response to lithium ion  
Ontology : EGO-EBItryptophan 5-monooxygenase activity  iron ion binding  cytosol  circadian rhythm  aromatic amino acid family metabolic process  response to activity  amino acid binding  response to nutrient levels  serotonin biosynthetic process  neuron projection  response to estrogen  indolalkylamine biosynthetic process  response to glucocorticoid  response to calcium ion  oxidation-reduction process  cellular response to lithium ion  
Pathways : KEGGTryptophan metabolism    Serotonergic synapse   
NDEx NetworkTPH2
Atlas of Cancer Signalling NetworkTPH2
Wikipedia pathwaysTPH2
Orthology - Evolution
OrthoDB121278
GeneTree (enSembl)ENSG00000139287
Phylogenetic Trees/Animal Genes : TreeFamTPH2
HOVERGENQ8IWU9
HOGENOMQ8IWU9
Homologs : HomoloGeneTPH2
Homology/Alignments : Family Browser (UCSC)TPH2
Gene fusions - Rearrangements
Fusion: Tumor Portal TPH2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTPH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TPH2
dbVarTPH2
ClinVarTPH2
1000_GenomesTPH2 
Exome Variant ServerTPH2
ExAC (Exome Aggregation Consortium)ENSG00000139287
GNOMAD BrowserENSG00000139287
Genetic variants : HAPMAP121278
Genomic Variants (DGV)TPH2 [DGVbeta]
DECIPHERTPH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTPH2 
Mutations
ICGC Data PortalTPH2 
TCGA Data PortalTPH2 
Broad Tumor PortalTPH2
OASIS PortalTPH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTPH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTPH2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TPH2
DgiDB (Drug Gene Interaction Database)TPH2
DoCM (Curated mutations)TPH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TPH2 (select a term)
intoGenTPH2
Cancer3DTPH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607478    608516    613003   
Orphanet
MedgenTPH2
Genetic Testing Registry TPH2
NextProtQ8IWU9 [Medical]
TSGene121278
GENETestsTPH2
Target ValidationTPH2
Huge Navigator TPH2 [HugePedia]
snp3D : Map Gene to Disease121278
BioCentury BCIQTPH2
ClinGenTPH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD121278
Chemical/Pharm GKB GenePA128747823
Clinical trialTPH2
Miscellaneous
canSAR (ICR)TPH2 (select the gene name)
Probes
Litterature
PubMed242 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTPH2
EVEXTPH2
GoPubMedTPH2
iHOPTPH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 12:33:38 CET 2017

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