LOCUS       NM_173353               2360 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.
ACCESSION   NM_173353
VERSION     NM_173353.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2360)
  AUTHORS   Li,W., Li,Q., Zhang,P., Liu,H. and Ye,Z.
  TITLE     Interaction between childhood trauma experience and TPH2 rs7305115
            gene polymorphism in brain gray matter volume
  JOURNAL   Behav Brain Funct 19 (1), 22 (2023)
   PUBMED   38093326
  REMARK    GeneRIF: Interaction between childhood trauma experience and TPH2
            rs7305115 gene polymorphism in brain gray matter volume.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2360)
  AUTHORS   Hernandez-Mixteco,M., Bernal-Morales,B., Valenzuela,O.L.,
            Rodriguez-Landa,J.F., Cerna-Cortes,J.F. and Garcia-Montalvo,E.A.
  TITLE     TPH2-703 G/T polymorphism is associated with stress, depression,
            and psychosocial symptoms in mentally healthy Mexicans
  JOURNAL   Brain Res 1817, 148479 (2023)
   PUBMED   37423455
  REMARK    GeneRIF: TPH2-703 G/T polymorphism is associated with stress,
            depression, and psychosocial symptoms in mentally healthy Mexicans.
REFERENCE   3  (bases 1 to 2360)
  AUTHORS   Carkaci-Salli,N., Bewley,M.C., Tekin,I., Flanagan,J.M. and
            Vrana,K.E.
  TITLE     The A328 V/E (rs2887147) polymorphisms in human tryptophan
            hydroxylase 2 compromise enzyme activity
  JOURNAL   Biochem Biophys Rep 35, 101527 (2023)
   PUBMED   37608910
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2360)
  AUTHORS   Wang,F., Luo,D., Chen,J., Pan,C., Wang,Z., Fu,H., Xu,J., Yang,M.,
            Mo,S., Zhuang,L. and Wang,W.
  TITLE     Influence of TPH2 and HTR1A polymorphisms on lifelong premature
            ejaculation risk among the chinese Han population
  JOURNAL   BMC Urol 23 (1), 86 (2023)
   PUBMED   37161455
  REMARK    GeneRIF: Influence of TPH2 and HTR1A polymorphisms on lifelong
            premature ejaculation risk among the chinese Han population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2360)
  AUTHORS   Akhrif,A., Romanos,M., Peters,K., Furtmann,A.K., Caspers,J.,
            Lesch,K.P., Meisenzahl-Lechner,E.M. and Neufang,S.
  TITLE     Serotonergic modulation of normal and abnormal brain dynamics: The
            genetic influence of the TPH2 G-703T genotype and DNA methylation
            on wavelet variance in children and adolescents with and without
            ADHD
  JOURNAL   PLoS One 18 (4), e0282813 (2023)
   PUBMED   37104367
  REMARK    GeneRIF: Serotonergic modulation of normal and abnormal brain
            dynamics: The genetic influence of the TPH2 G-703T genotype and DNA
            methylation on wavelet variance in children and adolescents with
            and without ADHD.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2360)
  AUTHORS   Zill,P., Baghai,T.C., Zwanzger,P., Schule,C., Eser,D.,
            Rupprecht,R., Moller,H.J., Bondy,B. and Ackenheil,M.
  TITLE     SNP and haplotype analysis of a novel tryptophan hydroxylase
            isoform (TPH2) gene provide evidence for association with major
            depression
  JOURNAL   Mol Psychiatry 9 (11), 1030-1036 (2004)
   PUBMED   15124006
  REMARK    GeneRIF: Single-nucleotide polymorphism (SNP), haplotype and
            linkage disequlibrium studies were performed on depressed patients
            and healthy controls with 10 SNPs in the TPH2 gene. Significant
            association was detected between one SNP and major depression.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2360)
  AUTHORS   Peters,E.J., Slager,S.L., McGrath,P.J., Knowles,J.A. and
            Hamilton,S.P.
  TITLE     Investigation of serotonin-related genes in antidepressant response
  JOURNAL   Mol Psychiatry 9 (9), 879-889 (2004)
   PUBMED   15052272
  REMARK    GeneRIF: Clinical trial of gene-environment interaction and
            pharmacogenomic / toxicogenomic. (HuGE Navigator)
REFERENCE   8  (bases 1 to 2360)
  AUTHORS   Breidenthal,S.E., White,D.J. and Glatt,C.E.
  TITLE     Identification of genetic variants in the neuronal form of
            tryptophan hydroxylase (TPH2)
  JOURNAL   Psychiatr Genet 14 (2), 69-72 (2004)
   PUBMED   15167691
  REMARK    GeneRIF: complex behavioral phenotypes or as actual risk factors.
            Structural polymorphisms are extremely rare in TPH2 and cannot
            therefore act as substantial risk factors for behavioral disorders
            in African-American and Caucasian populations.
REFERENCE   9  (bases 1 to 2360)
  AUTHORS   Walther,D.J. and Bader,M.
  TITLE     A unique central tryptophan hydroxylase isoform
  JOURNAL   Biochem Pharmacol 66 (9), 1673-1680 (2003)
   PUBMED   14563478
REFERENCE   10 (bases 1 to 2360)
  AUTHORS   Walther,D.J., Peter,J.U., Bashammakh,S., Hortnagl,H., Voits,M.,
            Fink,H. and Bader,M.
  TITLE     Synthesis of serotonin by a second tryptophan hydroxylase isoform
  JOURNAL   Science 299 (5603), 76 (2003)
   PUBMED   12511643
  REMARK    GeneRIF: a second tryptophan hydroxylase isoform described
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090109.15 and AY098914.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_173353.3.
            
            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. Mutations in this gene may
            be associated with psychiatric diseases such as bipolar affective
            disorder and major depression. [provided by RefSeq, Feb 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data because no single transcript was available
            for the full length of the gene. The extent of this transcript is
            supported by the mouse ortholog.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY098914.1, BC114499.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968540,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333850.4/ ENSP00000329093.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AC090109.15        29939-29939
            2-1806              AY098914.1         1-1805
            1807-2360           AC090109.15        122981-123534
FEATURES             Location/Qualifiers
     source          1..2360
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q21.1"
     gene            1..2360
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /note="tryptophan hydroxylase 2"
                     /db_xref="GeneID:121278"
                     /db_xref="HGNC:HGNC:20692"
                     /db_xref="MIM:607478"
     exon            1..247
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..1615
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /EC_number="1.14.16.4"
                     /note="neuronal tryptophan hydroxylase; tryptophan
                     5-monooxygenase 2"
                     /codon_start=1
                     /product="tryptophan 5-hydroxylase 2"
                     /protein_id="NP_775489.2"
                     /db_xref="CCDS:CCDS31859.1"
                     /db_xref="GeneID:121278"
                     /db_xref="HGNC:HGNC:20692"
                     /db_xref="MIM:607478"
                     /translation="MQPAMMMFSSKYWARRGFSLDSAVPEEHQLLGSSTLNKPNSGKN
                     DDKGNKGSSKREAATESGKTAVVFSLKNEVGGLVKALRLFQEKRVNMVHIESRKSRRR
                     SSEVEIFVDCECGKTEFNELIQLLKFQTTIVTLNPPENIWTEEEELEDVPWFPRKISE
                     LDKCSHRVLMYGSELDADHPGFKDNVYRQRRKYFVDVAMGYKYGQPIPRVEYTEEETK
                     TWGVVFRELSKLYPTHACREYLKNFPLLTKYCGYREDNVPQLEDVSMFLKERSGFTVR
                     PVAGYLSPRDFLAGLAYRVFHCTQYIRHGSDPLYTPEPDTCHELLGHVPLLADPKFAQ
                     FSQEIGLASLGASDEDVQKLATCYFFTIEFGLCKQEGQLRAYGAGLLSSIGELKHALS
                     DKACVKAFDPKTTCLQECLITTFQEAYFVSESFEEAKEKMRDFAKSITRPFSVYFNPY
                     TQSIEILKDTRSIENVVQDLRSDLNTVCDALNKMNQYLGI"
     exon            248..397
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /inference="alignment:Splign:2.1.0"
     exon            398..581
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /inference="alignment:Splign:2.1.0"
     exon            582..682
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /inference="alignment:Splign:2.1.0"
     exon            683..750
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /inference="alignment:Splign:2.1.0"
     exon            751..947
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /inference="alignment:Splign:2.1.0"
     exon            948..1083
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1210
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1306
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1307..1440
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..2360
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2340..2345
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /note="hexamer: AATAAA"
     polyA_site      2360
                     /gene="TPH2"
                     /gene_synonym="ADHD7; NTPH"
                     /note="major polyA site"
ORIGIN      
        1 gcattgctct tcagcaccag ggttctggac agcgccccaa gcaggcagct gatcgcacgc
       61 cccttcctct caatctccgc cagcgctgct actgcccctc tagtaccccc tgctgcagag
      121 aaagaatatt acaccgggat ccatgcagcc agcaatgatg atgttttcca gtaaatactg
      181 ggcacggaga gggttttccc tggattcagc agtgcccgaa gagcatcagc tacttggcag
      241 ctcaacacta aataaaccta actctggcaa aaatgacgac aaaggcaaca agggaagcag
      301 caaacgtgaa gctgctaccg aaagtggcaa gacagcagtt gttttctcct tgaagaatga
      361 agttggtgga ttggtaaaag cactgaggct ctttcaggaa aaacgtgtca acatggttca
      421 tattgaatcc aggaaatctc ggcgaagaag ttctgaggtt gaaatctttg tggactgtga
      481 gtgtgggaaa acagaattca atgagctcat tcagttgctg aaatttcaaa ccactattgt
      541 gacgctgaat cctccagaga acatttggac agaggaagaa gagctagagg atgtgccctg
      601 gttccctcgg aagatctctg agttagacaa atgctctcac agagttctca tgtatggttc
      661 tgagcttgat gctgaccacc caggatttaa ggacaatgtc tatcgacaga gaagaaagta
      721 ttttgtggat gtggccatgg gttataaata tggtcagccc attcccaggg tggagtatac
      781 tgaagaagaa actaaaactt ggggtgttgt attccgggag ctctccaaac tctatcccac
      841 tcatgcttgc cgagagtatt tgaaaaactt ccctctgctg actaaatact gtggctacag
      901 agaggacaat gtgcctcaac tcgaagatgt ctccatgttt ctgaaagaaa ggtctggctt
      961 cacggtgagg ccggtggctg gatacctgag cccacgagac tttctggcag gactggccta
     1021 cagagtgttc cactgtaccc agtacatccg gcatggctca gatcccctct acaccccaga
     1081 accagacaca tgccatgaac tcttgggaca tgttccacta cttgcggatc ctaagtttgc
     1141 tcagttttca caagaaatag gtctggcgtc tctgggagca tcagatgaag atgttcagaa
     1201 actagccacg tgctatttct tcacaatcga gtttggcctt tgcaagcaag aagggcaact
     1261 gcgggcatat ggagcaggac tcctttcctc cattggagaa ttaaagcacg ccctttctga
     1321 caaggcatgt gtgaaagcct ttgacccaaa gacaacttgc ttacaggaat gccttatcac
     1381 caccttccag gaagcctact ttgtttcaga aagttttgaa gaagccaaag aaaagatgag
     1441 ggactttgca aagtcaatta cccgtccctt ctcagtatac ttcaatccct acacacagag
     1501 tattgaaatt ctgaaagaca ccagaagtat tgaaaatgtg gtgcaggacc ttcgcagcga
     1561 cttgaataca gtgtgtgatg ctttaaacaa aatgaaccaa tatctgggga tttgatgcct
     1621 ggaactatgt tgttgccagc atgatctttt tggggcttag cagcagttca gtcaatgtca
     1681 tataacgcaa ataaccttct gtgtcatggc ttggctaata agcatgcaat tccatatatc
     1741 tataccatct tgtaactcac tgtgttagta tataaagcac cataagaaat ccaatggcag
     1801 ataaccactc attgtatgaa ataacgtatt atgtttaaac atcttaaaaa gatttgacat
     1861 tcctgcttag tgtccttaac caaactgcat ctagttaaaa tttgtaacaa atagccctct
     1921 tatgagtctc atttatgccc ttttcttttt cagatctaag cctttcctct gtgttcatta
     1981 gataaaatga aaaaaagcag tgaagctgtt tccattttca atagtatcag tgttttcacg
     2041 cattatttga gataaaccca gaattgtagg aaacttccca tcacaataac aaaggttcaa
     2101 tattctattt caaaaattgt tgaggtaaca cagcagttgg aatgattttt aggttgagta
     2161 tttacacaat gcaagaaaac acctttttac aaatggaatt atgtaggttg cgttgacctt
     2221 gtagaacctg agttatgaca agcttcctga agtattttgg aagatagtac ttccggaaag
     2281 gacattagga aagactaaac agtggacaat caatcttggg actatgaatt ttatgctgga
     2341 ataaagtaaa ttatcatgtt
//
