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FLASH GENE
Symbol TPH2 contributors: mct - updated : 08-02-2008
HGNC name tryptophan hydroxylase 2
HGNC id 20692
Location 12q21.1      Physical location : 72.332.625 - 72.426.221
Synonym name neuronal tryptophan hydroxylase
Synonym symbol(s) NTPH, FLJ37295, MGC138871, MGC138872
EC.number 1.14.16.4
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
STRUCTURE 93.00 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2350 - 490 - Scheuch (2007)
EXPRESSION
Type restricted
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   specific
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N-terminal regulatory domain being the source of TPH2 instability and reduced solubility
  • an amino acid-binding ACT motif
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Tph2
    homolog to rattus Tph2
    Homologene
    FAMILY biopterin-dependent aromatic amino acid hydroxylase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • rate-limiting enzyme in serotonin biosynthesis
  • having several functions in peripheral tissues, including the maintenance of vascular tone and gut motility
  • controling brain serotonin synthesis
  • involved in melatonin biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    ferrous ion
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to autism (minor role )
  • to attention-deficit/hyperactivity disorder
  • to bipolar affective disorder
  • Variant & Polymorphism other Pro206Ser appears to be an infrequent susceptibility variant with a relatively high penetrance in bipolar affective disorder
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS