LOCUS       NM_003924               2785 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens paired like homeobox 2B (PHOX2B), mRNA.
ACCESSION   NM_003924
VERSION     NM_003924.4
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 2785)
  AUTHORS   Qin,S., Ye,M., Yin,Y., Wang,J., Wang,X., Zhang,Z., Chen,X., Yan,M.,
            He,Y., Yi,D. and Deng,Q.
  TITLE     [Study of GCN repeats of PHOX2B gene among individuals from
            southwest China and diagnosis of two patients with Congenital
            central hypoventilation syndrome]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 41 (1), 32-37 (2024)
   PUBMED   38171556
  REMARK    GeneRIF: [Study of GCN repeats of PHOX2B gene among individuals
            from southwest China and diagnosis of two patients with Congenital
            central hypoventilation syndrome].
REFERENCE   2  (bases 1 to 2785)
  AUTHORS   Yue,Z., Gao,C., Xing,T., Zhao,W., Duan,C., Wang,X., Jin,M. and
            Su,Y.
  TITLE     Combined analysis of PHOX2B at two time points and its value for
            further risk stratification in high-risk neuroblastoma
  JOURNAL   Pediatr Blood Cancer 70 (5), e30261 (2023)
   PUBMED   36815592
  REMARK    GeneRIF: Combined analysis of PHOX2B at two time points and its
            value for further risk stratification in high-risk neuroblastoma.
REFERENCE   3  (bases 1 to 2785)
  AUTHORS   Alturkustani,M., Walker,A.D., Tran,I., Snuderl,M. and Cotter,J.A.
  TITLE     Spectrum of paired-like homeobox 2b immunoexpression in pediatric
            brain tumors with embryonal morphology
  JOURNAL   Pathol Int 72 (8), 402-410 (2022)
   PUBMED   35763016
  REMARK    GeneRIF: Spectrum of paired-like homeobox 2b immunoexpression in
            pediatric brain tumors with embryonal morphology.
REFERENCE   4  (bases 1 to 2785)
  AUTHORS   Fan,H., Xing,T., Hong,H., Duan,C., Zhao,W., Zhao,Q., Wang,X.,
            Huang,C., Zhu,S., Jin,M., Su,Y., Gao,C. and Ma,X.
  TITLE     The expression of PHOX2B in bone marrow and peripheral blood
            predicts adverse clinical outcome in non-high-risk neuroblastoma
  JOURNAL   Pediatr Hematol Oncol 39 (4), 343-356 (2022)
   PUBMED   34752187
  REMARK    GeneRIF: The expression of PHOX2B in bone marrow and peripheral
            blood predicts adverse clinical outcome in non-high-risk
            neuroblastoma.
REFERENCE   5  (bases 1 to 2785)
  AUTHORS   Yokoyama,M., Watanabe,H. and Nakamura,M.
  TITLE     Genomic structure and functional characterization of NBPhox
            (PMX2B), a homeodomain protein specific to catecholaminergic cells
            that is involved in second messenger-mediated transcriptional
            activation
  JOURNAL   Genomics 59 (1), 40-50 (1999)
   PUBMED   10395798
REFERENCE   6  (bases 1 to 2785)
  AUTHORS   Pattyn,A., Morin,X., Cremer,H., Goridis,C. and Brunet,J.F.
  TITLE     The homeobox gene Phox2b is essential for the development of
            autonomic neural crest derivatives
  JOURNAL   Nature 399 (6734), 366-370 (1999)
   PUBMED   10360575
REFERENCE   7  (bases 1 to 2785)
  AUTHORS   Pattyn,A., Morin,X., Cremer,H., Goridis,C. and Brunet,J.F.
  TITLE     Expression and interactions of the two closely related homeobox
            genes Phox2a and Phox2b during neurogenesis
  JOURNAL   Development 124 (20), 4065-4075 (1997)
   PUBMED   9374403
REFERENCE   8  (bases 1 to 2785)
  AUTHORS   Yokoyama,M., Nishi,Y., Yoshii,J., Okubo,K. and Matsubara,K.
  TITLE     Identification and cloning of neuroblastoma-specific and nerve
            tissue-specific genes through compiled expression profiles
  JOURNAL   DNA Res 3 (5), 311-320 (1996)
   PUBMED   9039501
REFERENCE   9  (bases 1 to 2785)
  AUTHORS   Parisi,M.A.
  TITLE     Hirschsprung Disease Overview - RETIRED CHAPTER, FOR HISTORICAL
            REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301612
REFERENCE   10 (bases 1 to 2785)
  AUTHORS   Weese-Mayer,D.E., Rand,C.M., Khaytin,I., Slattery,S.M., Yap,K.L.,
            Marazita,M.L. and Berry-Kravis,E.M.
  TITLE     Congenital Central Hypoventilation Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301600
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from D82344.1, BC017199.2,
            AC105389.3 and AI266171.1.
            
            On Aug 31, 2019 this sequence version replaced NM_003924.3.
            
            Summary: The DNA-associated protein encoded by this gene is a
            member of the paired family of homeobox proteins localized to the
            nucleus. The protein functions as a transcription factor involved
            in the development of several major noradrenergic neuron
            populations and the determination of neurotransmitter phenotype.
            The gene product is linked to enhancement of second
            messenger-mediated activation of the dopamine beta-hydroylase,
            c-fos promoters and several enhancers, including cyclic
            amp-response element and serum-response element. Expansion of a 20
            amino acid polyalanine tract in this protein by 5-13 aa has been
            associated with congenital central hypoventilation syndrome.
            [provided by RefSeq, Jul 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 transcript alignments and orthologous data.
            
            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 :: D82344.1, BC017199.2 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000226382.4/ ENSP00000226382.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-989               D82344.1           246-1234
            990-1506            BC017199.2         971-1487
            1507-2447           AC105389.3         101130-102070       c
            2448-2785           AI266171.1         4-341               c
FEATURES             Location/Qualifiers
     source          1..2785
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p13"
     gene            1..2785
                     /gene="PHOX2B"
                     /gene_synonym="CCHS; NBLST2; NBPhox; PMX2B"
                     /note="paired like homeobox 2B"
                     /db_xref="GeneID:8929"
                     /db_xref="HGNC:HGNC:9143"
                     /db_xref="MIM:603851"
     exon            1..356
                     /gene="PHOX2B"
                     /gene_synonym="CCHS; NBLST2; NBPhox; PMX2B"
                     /inference="alignment:Splign:2.1.0"
     CDS             116..1060
                     /gene="PHOX2B"
                     /gene_synonym="CCHS; NBLST2; NBPhox; PMX2B"
                     /note="neuroblastoma paired-type homeobox protein; paired
                     mesoderm homeobox 2b; PHOX2B homeodomain protein;
                     neuroblastoma Phox; paired like homeobox2B"
                     /codon_start=1
                     /product="paired mesoderm homeobox protein 2B"
                     /protein_id="NP_003915.2"
                     /db_xref="CCDS:CCDS3463.1"
                     /db_xref="GeneID:8929"
                     /db_xref="HGNC:HGNC:9143"
                     /db_xref="MIM:603851"
                     /translation="MYKMEYSYLNSSAYESCMAGMDTSSLASAYADFSSCSQASGFQY
                     NPIRTTFGATSGCPSLTPGSCSLGTLRDHQSSPYAAVPYKLFTDHGGLNEKRKQRRIR
                     TTFTSAQLKELERVFAETHYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQERAA
                     AAAAAAAKNGSSGKKSDSSRDDESKEAKSTDPDSTGGPGPNPNPTPSCGANGGGGGGP
                     SPAGAPGAAGPGGPGGEPGKGGAAAAAAAAAAAAAAAAAAAAGGLAAAGGPGQGWAPG
                     PGPITSIPDSLGGPFASVLSSLQRPNGAKAALVKSSMF"
     exon            357..544
                     /gene="PHOX2B"
                     /gene_synonym="CCHS; NBLST2; NBPhox; PMX2B"
                     /inference="alignment:Splign:2.1.0"
     exon            545..2785
                     /gene="PHOX2B"
                     /gene_synonym="CCHS; NBLST2; NBPhox; PMX2B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2769..2774
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHOX2B"
                     /gene_synonym="CCHS; NBLST2; NBPhox; PMX2B"
                     /note="hexamer: AACAAA"
     polyA_site      2785
                     /gene="PHOX2B"
                     /gene_synonym="CCHS; NBLST2; NBPhox; PMX2B"
                     /note="major polyA site"
ORIGIN      
        1 aggccagttt ggaggcaggc gttgagctgt gcacatctcc ccactccagc caccttctcc
       61 atatccatct tttatttcat ttttccactt ggctgagcca tccagaacct tttcaatgta
      121 taaaatggaa tattcttacc tcaattcctc tgcctacgag tcctgtatgg ctgggatgga
      181 cacctcgagc ctggcttcag cctatgctga cttcagttcc tgcagccagg ccagtggctt
      241 ccagtataac ccgataagga ccacttttgg ggccacgtcc ggctgccctt ccctcacgcc
      301 gggatcctgc agcctgggca ccctcaggga ccaccagagc agtccgtacg ccgcagttcc
      361 ttacaaactc ttcacggacc acggcggcct caacgagaag cgcaagcagc ggcgcatccg
      421 caccactttc accagtgccc agctcaaaga gctggaaagg gtcttcgcgg agactcacta
      481 ccccgacatc tacactcggg aggagctggc cctgaagatc gacctcacag aggcgcgagt
      541 ccaggtgtgg ttccagaacc gccgcgccaa gtttcgcaag caggagcgcg cagcggcagc
      601 cgcagcggcc gcggccaaga acggctcctc gggcaaaaag tctgactctt ccagggacga
      661 cgagagcaaa gaggccaaga gcactgaccc ggacagcact gggggcccag gtcccaatcc
      721 caaccccacc cccagctgcg gggcgaatgg aggcggcggc ggcgggccca gcccggctgg
      781 agctccgggg gcggcggggc ccgggggccc gggaggcgaa cccggcaagg gcggcgcagc
      841 agcagcggcg gcggccgcgg cagcggcggc ggcggcagcg gcagcggcgg cagctggagg
      901 cctggctgcg gctgggggcc ctggacaagg ctgggctccc ggccccggcc ccatcacctc
      961 catcccggat tcgcttgggg gtcccttcgc cagcgtccta tcttcgctcc aaagacccaa
     1021 cggtgccaaa gccgccttag tgaagagcag tatgttctga tctggaatcc tgcggcggcg
     1081 gcggcggcgg cgacagcggg cgagccaggg cccgggcggg cgagtgggcg agcgggtagg
     1141 cccaaggcta ttgtcgtcgc tgctgccatg gctttttcat tgagggccta aagtaatcgc
     1201 gctaagaata aagggaaaac ggcgtcgccc tcatttcaac cccactccta cccccttcct
     1261 caacccccaa acaaaacaaa caaacttccc tggcttcgca cctgcctggg gcctcgcagc
     1321 ggggccaggg ctccgcctgc tgatcggggg ttgtgagcag cgcggcctgg acgcggggca
     1381 ctctcagggg gctgtgtctg cgtgtcagtt tgtgtctgtc tcggggaatg tgtgtctgtg
     1441 gcccaagcag gtgacaggaa gagatggggg gcctcaacca acttagtgac ttgtttagaa
     1501 aaaaaagaca aaaaagtaaa aataaaaaca aaaaagttgg aaggcagaaa ccattaaaaa
     1561 acaaaaagcc aacaacccag aaaggtttaa aaaacataag gaaaaaaaag acaaattaaa
     1621 ggaggggcta ggggagaagc tgcagctgga gctgaaggct cgatcttgtg aacccctaaa
     1681 tccgctccct cctaacagca cggattctct tggggctctt cttcagggaa gagtagggac
     1741 gccgttccag ccccccttcc tatcgtgtcc ttgggttcgg gtcactgcgg cgacgacttg
     1801 ctcagactgt cccggcggcc ggagtgactt tctcgcaccc ccttgcctgt cccacctcgc
     1861 tgaacaccat cccgccatta gcgcatcgga accccacaca gttgcaactc ccaaccccga
     1921 atctttgcag ccgttcggcc ctgaaagatg ccctatccat gagatgcctt ttcatctgca
     1981 aactctgcaa aatgtgtctc atgtttcgca actctttttt tccccctcgc tcccgcctac
     2041 cccgtcggca ttttcttctt ccaccagctt ttactgaact ttttggcact gctttggatt
     2101 ggggtcaatt gcagtccacg taactggctg cagagaaatc taccgagcaa ggaaaaggca
     2161 cacacacacg tttgcagggg tgtctcggtt tgcatttctg ttggaatgat ccgaactgga
     2221 ctcacatcct gtatggtgga tggactgtat attgagggtt ccattcttcg cgcagtttag
     2281 acatctctgt tttgattctt tgttgttgtt tttattttaa aaggcacaaa ctctagatat
     2341 tagttgaatg ttgaggcttt aactttttcg gtgtctttct acaactgtgt tctgtgactc
     2401 aattgtatcg tgttaatatc agtgcagact gtctcctcta cgtgaccgta taatgttttt
     2461 ctcttcttgt agtctctatg gcgtgtcttt atggtgtaat aaggttctca cgggttcaat
     2521 cttttgtgtt tagagaggcc acggttcaga caatggtata tatttttgtt atcaggtgca
     2581 tgtctgtctg atttcttttt ttttcctgtt ggactatgtt tgtgaacata attgtcataa
     2641 gttatgtttc agatttttga atttatttat atgtgttata atgaatgctt ctatttaaaa
     2701 gggaaatatt tctacatgtg catatagttt tccaagagtg taccattaac ttgattgttg
     2761 ataataaaaa caaaaagcaa gtcta
//
