LOCUS       NM_005169               1699 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens paired like homeobox 2A (PHOX2A), transcript variant
            1, mRNA.
ACCESSION   NM_005169
VERSION     NM_005169.4
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 1699)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 1699)
  AUTHORS   Song,N.N., Ma,P., Zhang,Q., Zhang,L., Wang,H., Zhang,L., Zhu,L.,
            He,C.H., Mao,B. and Ding,Y.Q.
  TITLE     Rnf220/Zc4h2-mediated monoubiquitylation of Phox2 is required for
            noradrenergic neuron development
  JOURNAL   Development 147 (6) (2020)
   PUBMED   32094113
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1699)
  AUTHORS   Heidary,G., Mackinnon,S., Elliott,A., Barry,B.J., Engle,E.C. and
            Hunter,D.G.
  TITLE     Outcomes of strabismus surgery in genetically confirmed congenital
            fibrosis of the extraocular muscles
  JOURNAL   J AAPOS 23 (5), 253 (2019)
   PUBMED   31541710
  REMARK    GeneRIF: Outcomes of strabismus surgery in genetically confirmed
            congenital fibrosis of the extraocular muscles.
REFERENCE   4  (bases 1 to 1699)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (bases 1 to 1699)
  AUTHORS   Di Lascio,S., Saba,E., Belperio,D., Raimondi,A., Lucchetti,H.,
            Fornasari,D. and Benfante,R.
  TITLE     PHOX2A and PHOX2B are differentially regulated during retinoic
            acid-driven differentiation of SK-N-BE(2)C neuroblastoma cell line
  JOURNAL   Exp Cell Res 342 (1), 62-71 (2016)
   PUBMED   26902400
  REMARK    GeneRIF: PHOX2A expression is finely controlled during retinoic
            acid differentiation and this, together with PHOX2B
            down-regulation.
REFERENCE   6  (bases 1 to 1699)
  AUTHORS   Wang,S.M., Zwaan,J., Mullaney,P.B., Jabak,M.H., Al-Awad,A.,
            Beggs,A.H. and Engle,E.C.
  TITLE     Congenital fibrosis of the extraocular muscles type 2, an inherited
            exotropic strabismus fixus, maps to distal 11q13
  JOURNAL   Am J Hum Genet 63 (2), 517-525 (1998)
   PUBMED   9683611
REFERENCE   7  (bases 1 to 1699)
  AUTHORS   Swanson,D.J., Zellmer,E. and Lewis,E.J.
  TITLE     The homeodomain protein Arix interacts synergistically with cyclic
            AMP to regulate expression of neurotransmitter biosynthetic genes
  JOURNAL   J Biol Chem 272 (43), 27382-27392 (1997)
   PUBMED   9341190
REFERENCE   8  (bases 1 to 1699)
  AUTHORS   Merscher,S., Bekri,S., de Leeuw,B., Pedeutour,F., Grosgeorge,J.,
            Shows,T.B., Mullenbach,R., Le Paslier,D., Nowak,N.J. and Gaudray,P.
  TITLE     A 5.5-Mb high-resolution integrated map of distal 11q13
  JOURNAL   Genomics 39 (3), 340-347 (1997)
   PUBMED   9119371
REFERENCE   9  (bases 1 to 1699)
  AUTHORS   Johnson,K.R., Smith,L., Johnson,D.K., Rhodes,J., Rinchik,E.M.,
            Thayer,M. and Lewis,E.J.
  TITLE     Mapping of the ARIX homeodomain gene to mouse chromosome 7 and
            human chromosome 11q13
  JOURNAL   Genomics 33 (3), 527-531 (1996)
   PUBMED   8661014
REFERENCE   10 (bases 1 to 1699)
  AUTHORS   Whitman,M.C., Jurgens,J.A., Hunter,D.G. and Engle,E.C.
  TITLE     Congenital Fibrosis of the Extraocular Muscles Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301522
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290645.1 and BC041564.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_005169.3.
            
            Summary: The protein encoded by this gene contains a paired-like
            homeodomain most similar to that of the Drosophila aristaless gene
            product. The encoded protein plays a central role in development of
            the autonomic nervous system. It regulates the expression of
            tyrosine hydroxylase and dopamine beta-hydroxylase, two
            catecholaminergic biosynthetic enzymes essential for the
            differentiation and maintenance of the noradrenergic
            neurotransmitter phenotype. The encoded protein has also been shown
            to regulate transcription of the alpha3 nicotinic acetylcholine
            receptor gene. Mutations in this gene have been associated with
            autosomal recessive congenital fibrosis of the extraocular muscles.
            [provided by RefSeq, Jul 2008].
            
            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 :: BC041564.1, BX376662.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000298231.5/ ENSP00000298231.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1294              AK290645.1         1-1294
            1295-1699           BC041564.1         1277-1681
FEATURES             Location/Qualifiers
     source          1..1699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..1699
                     /gene="PHOX2A"
                     /gene_synonym="ARIX; CFEOM2; FEOM2; NCAM2; PMX2A"
                     /note="paired like homeobox 2A"
                     /db_xref="GeneID:401"
                     /db_xref="HGNC:HGNC:691"
                     /db_xref="MIM:602753"
     exon            1..389
                     /gene="PHOX2A"
                     /gene_synonym="ARIX; CFEOM2; FEOM2; NCAM2; PMX2A"
                     /inference="alignment:Splign:2.1.0"
     CDS             173..1027
                     /gene="PHOX2A"
                     /gene_synonym="ARIX; CFEOM2; FEOM2; NCAM2; PMX2A"
                     /note="isoform 1 is encoded by transcript variant 1; arix
                     homeodomain protein; aristaless homeobox homolog; paired
                     mesoderm homeobox protein 2A; ARIX1 homeodomain protein;
                     aristaless homeobox protein homolog"
                     /codon_start=1
                     /product="paired mesoderm homeobox protein 2A isoform 1"
                     /protein_id="NP_005160.2"
                     /db_xref="CCDS:CCDS8214.1"
                     /db_xref="GeneID:401"
                     /db_xref="HGNC:HGNC:691"
                     /db_xref="MIM:602753"
                     /translation="MDYSYLNSYDSCVAAMEASAYGDFGACSQPGGFQYSPLRPAFPA
                     AGPPCPALGSSNCALGALRDHQPAPYSAVPYKFFPEPSGLHEKRKQRRIRTTFTSAQL
                     KELERVFAETHYPDIYTREELALKIDLTEARVQVWFQNRRAKFRKQERAASAKGAAGA
                     AGAKKGEARCSSEDDDSKESTCSPTPDSTASLPPPPAPGLASPRLSPSPLPVALGSGP
                     GPGPGPQPLKGALWAGVAGGGGGGPGAGAAELLKAWQPAESGPGPFSGVLSSFHRKPG
                     PALKTNLF"
     exon            390..577
                     /gene="PHOX2A"
                     /gene_synonym="ARIX; CFEOM2; FEOM2; NCAM2; PMX2A"
                     /inference="alignment:Splign:2.1.0"
     exon            578..1699
                     /gene="PHOX2A"
                     /gene_synonym="ARIX; CFEOM2; FEOM2; NCAM2; PMX2A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1675..1680
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PHOX2A"
                     /gene_synonym="ARIX; CFEOM2; FEOM2; NCAM2; PMX2A"
                     /note="hexamer: AATAAA"
     polyA_site      1699
                     /gene="PHOX2A"
                     /gene_synonym="ARIX; CFEOM2; FEOM2; NCAM2; PMX2A"
                     /note="major polyA site"
ORIGIN      
        1 acttgcgttg cacccgggct gagtgcggcc gcgacggggc gggcggactc tcgggcgctc
       61 agagctggcc tcgggtcctc ggagcctggc gctcgaacct cccttccgac ctccacccgg
      121 accccgaccc cgacccggcc tggcccggcc cccgcccccg ccccccgggc cgatggacta
      181 ctcctacctc aattcgtacg actcgtgcgt ggcggccatg gaggcgtccg cctacggcga
      241 ctttggcgcc tgcagccagc ccggcggctt ccaatacagc cccctgcggc ccgctttccc
      301 cgcggcaggg ccgccctgcc ccgcgctcgg ctcctccaac tgcgcacttg gcgccctacg
      361 cgaccaccag cccgcgccct actcggcagt gccctacaag ttcttcccag agccatccgg
      421 cctgcacgag aagcgcaagc agcggcgcat ccgcaccacg ttcaccagcg cgcagctcaa
      481 ggagctggag cgcgttttcg ctgagaccca ctaccccgac atttacacgc gtgaggagct
      541 ggcgctcaag atcgacctca ctgaggctcg cgtgcaggtc tggttccaga accgccgggc
      601 caagttccgc aaacaggagc gcgcggccag cgccaagggc gcggcgggcg cggcgggcgc
      661 caaaaagggc gaggcgcgct gctcctccga ggacgacgat tccaaggagt ccacgtgcag
      721 ccccacgccc gatagcaccg cctcgctgcc gccgccgcct gcgcccggcc tggccagccc
      781 gcgcctgagc cccagcccgc tgcccgtcgc actgggctcc gggccgggac ctgggccggg
      841 gccacagccg ctcaagggcg cactgtgggc cggtgtggcg ggcggtgggg gcggcgggcc
      901 tggcgcggga gcggccgaac tacttaaggc ttggcagccg gcggagtccg gccccgggcc
      961 cttctccggg gttctgtcct cctttcaccg gaagcccggc cccgccctga agaccaatct
     1021 cttctagctg ccggcctctg gaggctccga gcctgccccc agagacgtcc ctgcccctcc
     1081 aggacctgac agcccctccc atcctggcca cccgcctgga agtccccatc cgtctccact
     1141 ccctactgtc tcacccctcg gtgtgtcctc cccaactttg gagaccaagt cagggccact
     1201 ctcgtcctca cccaccctct accagcagag cggagttctt tataccggga cctcctccag
     1261 gagaaccccg gagctccttc tagcttggcc ttctttggat gcggtatcac atgaggcctg
     1321 tccctaacag tgccctcaaa gtgaaggtcc tcaaggagga tcggcacagc ccccttccct
     1381 ggctctgcag cggctgggtc accccttacg ctggtgatca ggaaagcccg ctgccccacc
     1441 cctcgggccc acccgtacag aggctggtgg tcgccgggat aattaatgac caccgccaat
     1501 tcatccctca cgtgtctcct ctcttcccta gcccgtctgg cacagagggt ggacctgtta
     1561 gaggagtgga ggggctgcct ggggaatggg acagagggat tctctttccc taattttttt
     1621 ggttgtcctt tttctttgaa aaacttgtaa tttattgaag ttttactcaa tccaaataaa
     1681 acttaattta ttgaagaca
//
