Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

TH (tyrosine hydroxylase)

Identity

Alias_symbol (synonym)DYT5b
Other aliasDYT14
TYH
HGNC (Hugo) TH
LocusID (NCBI) 7054
Atlas_Id 49894
Location 11p15.5  [Link to chromosome band 11p15]
Location_base_pair Starts at 2163929 and ends at 2171805 bp from pter ( according to hg38-Dec_2013)

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)TH   11782
Cards
Entrez_Gene (NCBI)TH  7054  tyrosine hydroxylase
AliasesDYT14; DYT5b; TYH
GeneCards (Weizmann)TH
Ensembl hg19 (Hinxton)ENSG00000180176 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000180176 [Gene_View]  chr11:2163929-2171805 [Contig_View]  TH [Vega]
ICGC DataPortalENSG00000180176
TCGA cBioPortalTH
AceView (NCBI)TH
Genatlas (Paris)TH
WikiGenes7054
SOURCE (Princeton)TH
Genetics Home Reference (NIH)TH
Genomic and cartography
GoldenPath hg38 (UCSC)TH  -     chr11:2163929-2171805 -  11p15.5   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TH  -     11p15.5   [Description]    (hg19-Feb_2009)
EnsemblTH - 11p15.5 [CytoView hg19]  TH - 11p15.5 [CytoView hg38]
Mapping of homologs : NCBITH [Mapview hg19]  TH [Mapview hg38]
OMIM191290   605407   
Gene and transcription
Genbank (Entrez)AA447751 AY144494 AY144495 BC104967 BC143611
RefSeq transcript (Entrez)NM_000360 NM_199292 NM_199293
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TH
Cluster EST : UnigeneHs.435609 [ NCBI ]
CGAP (NCI)Hs.435609
Alternative Splicing GalleryENSG00000180176
Gene ExpressionTH [ NCBI-GEO ]   TH [ EBI - ARRAY_EXPRESS ]   TH [ SEEK ]   TH [ MEM ]
Gene Expression Viewer (FireBrowse)TH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7054
GTEX Portal (Tissue expression)TH
Protein : pattern, domain, 3D structure
UniProt/SwissProtP07101   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP07101  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP07101
Splice isoforms : SwissVarP07101
Catalytic activity : Enzyme1.14.16.2 [ Enzyme-Expasy ]   1.14.16.21.14.16.2 [ IntEnz-EBI ]   1.14.16.2 [ BRENDA ]   1.14.16.2 [ KEGG ]   
PhosPhoSitePlusP07101
Domaine pattern : Prosite (Expaxy)BH4_AAA_HYDROXYL_1 (PS00367)    BH4_AAA_HYDROXYL_2 (PS51410)   
Domains : Interpro (EBI)ArAA_hydroxylase    ArAA_hydroxylase_Fe/CU_BS    Aromatic-AA_hydroxylase_C    Tyr_3_mOase    Tyrosine_3-monooxygenase-like    Tyrosine_hydroxylase_CS   
Domain families : Pfam (Sanger)Biopterin_H (PF00351)    TOH_N (PF12549)   
Domain families : Pfam (NCBI)pfam00351    pfam12549   
Conserved Domain (NCBI)TH
DMDM Disease mutations7054
Blocks (Seattle)TH
PDB (SRS)2XSN    4J6S   
PDB (PDBSum)2XSN    4J6S   
PDB (IMB)2XSN    4J6S   
PDB (RSDB)2XSN    4J6S   
Structural Biology KnowledgeBase2XSN    4J6S   
SCOP (Structural Classification of Proteins)2XSN    4J6S   
CATH (Classification of proteins structures)2XSN    4J6S   
SuperfamilyP07101
Human Protein AtlasENSG00000180176
Peptide AtlasP07101
HPRD01865
IPIIPI00010178   IPI00218275   IPI00398179   IPI00922082   IPI00217988   IPI00878515   IPI00873432   IPI00878304   
Protein Interaction databases
DIP (DOE-UCLA)P07101
IntAct (EBI)P07101
FunCoupENSG00000180176
BioGRIDTH
STRING (EMBL)TH
ZODIACTH
Ontologies - Pathways
QuickGOP07101
Ontology : AmiGOresponse to hypoxia  synaptic transmission, dopaminergic  response to amphetamine  heart morphogenesis  tyrosine 3-monooxygenase activity  tyrosine 3-monooxygenase activity  protein binding  nucleus  cytoplasm  mitochondrion  smooth endoplasmic reticulum  cytosol  dopamine biosynthetic process from tyrosine  fatty acid metabolic process  sphingolipid metabolic process  heart development  visual perception  sensory perception of sound  learning  memory  mating behavior  locomotory behavior  regulation of heart contraction  synaptic vesicle  ferrous iron binding  ferric iron binding  response to water deprivation  response to light stimulus  response to herbicide  response to salt stress  anatomical structure morphogenesis  animal organ morphogenesis  cytoplasmic side of plasma membrane  response to zinc ion  multicellular organism aging  response to activity  aminergic neurotransmitter loading into synaptic vesicle  glycoside metabolic process  amino acid binding  phthalate metabolic process  oxygen binding  enzyme binding  protein domain specific binding  cerebral cortex development  dendrite  cytoplasmic vesicle  response to nutrient levels  response to estradiol  response to lipopolysaccharide  isoquinoline alkaloid metabolic process  melanosome membrane  tetrahydrobiopterin binding  social behavior  dopamine binding  cellular response to drug  response to isolation stress  response to immobilization stress  neurotransmitter biosynthetic process  terpene metabolic process  dopamine biosynthetic process  epinephrine biosynthetic process  norepinephrine biosynthetic process  catecholamine biosynthetic process  eye photoreceptor cell development  circadian sleep/wake cycle  eating behavior  neuron projection  terminal bouton  perikaryon  response to peptide hormone  pigmentation  response to ethanol  response to ether  response to pyrethroid  embryonic camera-type eye morphogenesis  response to corticosterone  response to electrical stimulus  phytoalexin metabolic process  oxidation-reduction process  cellular response to manganese ion  cellular response to nicotine  cellular response to glucose stimulus  cellular response to growth factor stimulus  
Ontology : EGO-EBIresponse to hypoxia  synaptic transmission, dopaminergic  response to amphetamine  heart morphogenesis  tyrosine 3-monooxygenase activity  tyrosine 3-monooxygenase activity  protein binding  nucleus  cytoplasm  mitochondrion  smooth endoplasmic reticulum  cytosol  dopamine biosynthetic process from tyrosine  fatty acid metabolic process  sphingolipid metabolic process  heart development  visual perception  sensory perception of sound  learning  memory  mating behavior  locomotory behavior  regulation of heart contraction  synaptic vesicle  ferrous iron binding  ferric iron binding  response to water deprivation  response to light stimulus  response to herbicide  response to salt stress  anatomical structure morphogenesis  animal organ morphogenesis  cytoplasmic side of plasma membrane  response to zinc ion  multicellular organism aging  response to activity  aminergic neurotransmitter loading into synaptic vesicle  glycoside metabolic process  amino acid binding  phthalate metabolic process  oxygen binding  enzyme binding  protein domain specific binding  cerebral cortex development  dendrite  cytoplasmic vesicle  response to nutrient levels  response to estradiol  response to lipopolysaccharide  isoquinoline alkaloid metabolic process  melanosome membrane  tetrahydrobiopterin binding  social behavior  dopamine binding  cellular response to drug  response to isolation stress  response to immobilization stress  neurotransmitter biosynthetic process  terpene metabolic process  dopamine biosynthetic process  epinephrine biosynthetic process  norepinephrine biosynthetic process  catecholamine biosynthetic process  eye photoreceptor cell development  circadian sleep/wake cycle  eating behavior  neuron projection  terminal bouton  perikaryon  response to peptide hormone  pigmentation  response to ethanol  response to ether  response to pyrethroid  embryonic camera-type eye morphogenesis  response to corticosterone  response to electrical stimulus  phytoalexin metabolic process  oxidation-reduction process  cellular response to manganese ion  cellular response to nicotine  cellular response to glucose stimulus  cellular response to growth factor stimulus  
Pathways : KEGGTyrosine metabolism    Dopaminergic synapse    Prolactin signaling pathway    Parkinson's disease    Cocaine addiction    Amphetamine addiction    Alcoholism   
NDEx NetworkTH
Atlas of Cancer Signalling NetworkTH
Wikipedia pathwaysTH
Orthology - Evolution
OrthoDB7054
GeneTree (enSembl)ENSG00000180176
Phylogenetic Trees/Animal Genes : TreeFamTH
HOVERGENP07101
HOGENOMP07101
Homologs : HomoloGeneTH
Homology/Alignments : Family Browser (UCSC)TH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TH
dbVarTH
ClinVarTH
1000_GenomesTH 
Exome Variant ServerTH
ExAC (Exome Aggregation Consortium)TH (select the gene name)
Genetic variants : HAPMAP7054
Genomic Variants (DGV)TH [DGVbeta]
DECIPHERTH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTH 
Mutations
ICGC Data PortalTH 
TCGA Data PortalTH 
Broad Tumor PortalTH
OASIS PortalTH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTH
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 TH
DgiDB (Drug Gene Interaction Database)TH
DoCM (Curated mutations)TH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TH (select a term)
intoGenTH
Cancer3DTH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM191290    605407   
Orphanet14826   
MedgenTH
Genetic Testing Registry TH
NextProtP07101 [Medical]
TSGene7054
GENETestsTH
Target ValidationTH
Huge Navigator TH [HugePedia]
snp3D : Map Gene to Disease7054
BioCentury BCIQTH
ClinGenTH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7054
Chemical/Pharm GKB GenePA351
Clinical trialTH
Miscellaneous
canSAR (ICR)TH (select the gene name)
Probes
Litterature
PubMed215 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTH
EVEXTH
GoPubMedTH
iHOPTH
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 : Tue Aug 1 17:16:49 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.