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TPH2 tryptophan hydroxylase 2 [ Homo sapiens (human) ]

Gene ID: 121278, updated on 11-Sep-2014
Official Symbol
TPH2provided by HGNC
Official Full Name
tryptophan hydroxylase 2provided by HGNC
Primary source
HGNC:HGNC:20692
See related
Ensembl:ENSG00000139287; HPRD:09594; MIM:607478; Vega:OTTHUMG00000169677
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NTPH; ADHD7
Summary
This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. The human genome contains two related tryptophan hydroxylases, one on chromosome 11p15-p14 and one on chromosome 12q21. This gene is expressed predominantly in the brain stem. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Jul 2008]
See TPH2 in Epigenomics, MapViewer
Location:
12q21.1
Exon count:
13
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 12 NC_000012.12 (71938846..72032441)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (72332626..72426221)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RAB21, member RAS oncogene family Neighboring gene TBC1 domain family, member 15 Neighboring gene MRS2 pseudogene 2 Neighboring gene TRHDE antisense RNA 1 Neighboring gene thyrotropin-releasing hormone degrading enzyme Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 3 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Attention deficit-hyperactivity disorder 7
MedGen: C2751802 OMIM: 613003 GeneReviews: Not available
Compare labs
Major depressive disorder
MedGen: C1269683 OMIM: 608516 GeneReviews: Not available
Compare labs
Tryptophan 5-monooxygenase deficiency
MedGen: CN120491 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide search for gene-gene interactions in colorectal cancer.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ37295, MGC138871, MGC138872

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
tryptophan 5-monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aromatic amino acid family metabolic process IEA
Inferred from Electronic Annotation
more info
 
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
cellular response to lithium ion IEA
Inferred from Electronic Annotation
more info
 
circadian rhythm IEA
Inferred from Electronic Annotation
more info
 
indolalkylamine biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
serotonin biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
tryptophan 5-hydroxylase 2
Names
tryptophan 5-hydroxylase 2
tryptophan 5-monooxygenase 2
neuronal tryptophan hydroxylase
NP_775489.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008279.1 

    Range
    5001..98596
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_173353.3NP_775489.2  tryptophan 5-hydroxylase 2

    See proteins identical to NP_775489.2

    Status: REVIEWED

    Source sequence(s)
    AC090109, AY098914
    Consensus CDS
    CCDS31859.1
    UniProtKB/Swiss-Prot
    Q8IWU9
    Related
    ENSP00000329093, OTTHUMP00000241772, ENST00000333850, OTTHUMT00000405234
    Conserved Domains (3) summary
    TIGR01270
    Location:52485
    Blast Score: 1805
    Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric
    cd04929
    Location:64137
    Blast Score: 292
    ACT_TPH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tryptophan hydroxylases (TPH), both peripheral (TPH1) and neuronal (TPH2) enzymes
    cd03346
    Location:152438
    Blast Score: 1582
    eu_TrpOH; Eukaryotic tryptophan hydroxylase (TrpOH); a member of the biopterin-dependent aromatic amino acid hydroxylase family of non-heme, iron(II)-dependent enzymes that also includes prokaryotic and eukaryotic phenylalanine-4-hydroxylase (PheOH) and eukaryotic ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 

    Range
    71938846..72032441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268642.1XP_005268699.1  

    See proteins identical to XP_005268699.1

    UniProtKB/TrEMBL
    Q14CC5
    Conserved Domains (3) summary
    TIGR01270
    Location:58491
    Blast Score: 1805
    Trp_5_monoox; tryptophan 5-monooxygenase, tetrameric
    cd04929
    Location:70143
    Blast Score: 292
    ACT_TPH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tryptophan hydroxylases (TPH), both peripheral (TPH1) and neuronal (TPH2) enzymes
    cd03346
    Location:158444
    Blast Score: 1581
    eu_TrpOH; Eukaryotic tryptophan hydroxylase (TrpOH); a member of the biopterin-dependent aromatic amino acid hydroxylase family of non-heme, iron(II)-dependent enzymes that also includes prokaryotic and eukaryotic phenylalanine-4-hydroxylase (PheOH) and eukaryotic ...

RNA

  1. XR_245894.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000144.1 

    Range
    69382235..69474238
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 

    Range
    72299779..72391813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)