LOCUS       NM_003987               4258 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens paired box 2 (PAX2), transcript variant a, mRNA.
ACCESSION   NM_003987
VERSION     NM_003987.5
KEYWORDS    RefSeq.
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 4258)
  AUTHORS   Chen,H., Li,L., Liu,H., Qin,P., Chen,R., Liu,S., Xiong,H., Li,Y.,
            Yang,Z., Xie,M., Yang,H. and Jiang,Q.
  TITLE     PAX2 is regulated by estrogen/progesterone through promoter
            methylation in endometrioid adenocarcinoma and has an important
            role in carcinogenesis via the AKT/mTOR signaling pathway
  JOURNAL   J Pathol 262 (4), 467-479 (2024)
   PUBMED   38185904
  REMARK    GeneRIF: PAX2 is regulated by estrogen/progesterone through
            promoter methylation in endometrioid adenocarcinoma and has an
            important role in carcinogenesis via the AKT/mTOR signaling
            pathway.
REFERENCE   2  (bases 1 to 4258)
  AUTHORS   Muntean,C., Chirtes,C., Baczoni,B. and Banescu,C.
  TITLE     PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review
  JOURNAL   Int J Mol Sci 24 (16), 12737 (2023)
   PUBMED   37628926
  REMARK    GeneRIF: PAX2 Gene Mutation in Pediatric Renal Disorders-A
            Narrative Review.
            Review article
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4258)
  AUTHORS   Negrisolo,S. and Benetti,E.
  TITLE     PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review
            of Mutations from the Leiden Open Variation Database
  JOURNAL   Int J Mol Sci 24 (4), 4165 (2023)
   PUBMED   36835576
  REMARK    GeneRIF: PAX2 and CAKUT Phenotypes: Report on Two New Variants and
            a Review of Mutations from the Leiden Open Variation Database.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4258)
  AUTHORS   Tavassoli,K., Ruger,W. and Horst,J.
  TITLE     Alternative splicing in PAX2 generates a new reading frame and an
            extended conserved coding region at the carboxy terminus
  JOURNAL   Hum Genet 101 (3), 371-375 (1997)
   PUBMED   9439670
REFERENCE   5  (bases 1 to 4258)
  AUTHORS   Sanyanusin,P., Norrish,J.H., Ward,T.A., Nebel,A., McNoe,L.A. and
            Eccles,M.R.
  TITLE     Genomic structure of the human PAX2 gene
  JOURNAL   Genomics 35 (1), 258-261 (1996)
   PUBMED   8661132
REFERENCE   6  (bases 1 to 4258)
  AUTHORS   Sanyanusin,P., Schimmenti,L.A., McNoe,L.A., Ward,T.A.,
            Pierpont,M.E., Sullivan,M.J., Dobyns,W.B. and Eccles,M.R.
  TITLE     Mutation of the PAX2 gene in a family with optic nerve colobomas,
            renal anomalies and vesicoureteral reflux
  JOURNAL   Nat Genet 9 (4), 358-364 (1995)
   PUBMED   7795640
  REMARK    Erratum:[Nat Genet. 1996 May;13(1):129. doi: 10.1038/ng0596-129..
            PMID: 8673093]
REFERENCE   7  (bases 1 to 4258)
  AUTHORS   Ward,T.A., Nebel,A., Reeve,A.E. and Eccles,M.R.
  TITLE     Alternative messenger RNA forms and open reading frames within an
            additional conserved region of the human PAX-2 gene
  JOURNAL   Cell Growth Differ 5 (9), 1015-1021 (1994)
   PUBMED   7819127
REFERENCE   8  (bases 1 to 4258)
  AUTHORS   Bower,M.A., Schimmenti,L.A. and Eccles,M.R.
  TITLE     PAX2-Related Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301624
REFERENCE   9  (bases 1 to 4258)
  AUTHORS   Bardakjian,T., Weiss,A. and Schneider,A.
  TITLE     Microphthalmia/Anophthalmia/Coloboma Spectrum - 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   20301552
REFERENCE   10 (bases 1 to 4258)
  AUTHORS   Eccles,M.R., Wallis,L.J., Fidler,A.E., Spurr,N.K., Goodfellow,P.J.
            and Reeve,A.E.
  TITLE     Expression of the PAX2 gene in human fetal kidney and Wilms' tumor
  JOURNAL   Cell Growth Differ 3 (5), 279-289 (1992)
   PUBMED   1378753
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL589862.28 and AL138762.20.
            
            On Sep 19, 2019 this sequence version replaced NM_003987.4.
            
            Summary: PAX2 encodes paired box gene 2, one of many human
            homologues of the Drosophila melanogaster gene prd. The central
            feature of this transcription factor gene family is the conserved
            DNA-binding paired box domain. PAX2 is believed to be a target of
            transcriptional supression by the tumor suppressor gene WT1.
            Mutations within PAX2 have been shown to result in optic nerve
            colobomas and renal hypoplasia. Alternative splicing of this gene
            results in multiple transcript variants. [provided by RefSeq, Dec
            2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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##
            RNAseq introns :: single sample supports all introns SAMEA1970526,
                              SAMEA2145774 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-722               AL589862.28        126704-127425
            723-891             AL589862.28        130868-131036
            892-1089            AL589862.28        131816-132013
            1090-1175           AL589862.28        160620-160705
            1176-1295           AL589862.28        162368-162487
            1296-1364           AL589862.28        168065-168133
            1365-1540           AL138762.20        2451-2626
            1541-1667           AL138762.20        5131-5257
            1668-1769           AL138762.20        20669-20770
            1770-1856           AL138762.20        23030-23116
            1857-4258           AL138762.20        23564-25965
FEATURES             Location/Qualifiers
     source          1..4258
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..4258
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="paired box 2"
                     /db_xref="GeneID:5076"
                     /db_xref="HGNC:HGNC:8616"
                     /db_xref="MIM:167409"
     exon            1..722
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     CDS             680..1933
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="isoform a is encoded by transcript variant a;
                     paired box homeotic gene 2; paired box protein Pax-2"
                     /codon_start=1
                     /product="paired box protein Pax-2 isoform a"
                     /protein_id="NP_003978.3"
                     /db_xref="CCDS:CCDS53569.1"
                     /db_xref="GeneID:5076"
                     /db_xref="HGNC:HGNC:8616"
                     /db_xref="MIM:167409"
                     /translation="MDMHCKADPFSAMHPGHGGVNQLGGVFVNGRPLPDVVRQRIVEL
                     AHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKVATPKVVDKIAEY
                     KRQNPTMFAWEIRDRLLAEGICDNDTVPSVSSINRIIRTKVQQPFHPTPDGAGTGVTA
                     PGHTIVPSTASPPVSSASNDPVGSYSINGILGIPRSNGEKRKRDEVEVYTDPAHIRGG
                     GGLHLVWTLRDVSEGSVPNGDSQSGVDSLRKHLRADTFTQQQLEALDRVFERPSYPDV
                     FQASEHIKSEQGNEYSLPALTPGLDEVKSSLSASTNPELGSNVSGTQTYPVVTGRDMA
                     STTLPGYPPHVPPTGQGSYPTSTLAGMVPGSEFSGNPYSHPQYTAYNEAWRFSNPALL
                     SSPYYYSAAPRGSAPAAAAAAYDRH"
     exon            723..891
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            892..1089
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1090..1175
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1176..1295
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1296..1364
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1365..1540
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1667
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1668..1769
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1770..1856
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1857..4258
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3881..3886
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="hexamer: AATAAA"
     polyA_site      3908
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="major polyA site"
     regulatory      4237..4242
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="hexamer: AATAAA"
     polyA_site      4258
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
ORIGIN      
        1 agtctccggc cgagtcttct cgcagccgca acccacctgg ggccagccca gagctgccag
       61 cgccgctcgg ctccctccct ccctcccggc ccttcggccg cggcggcgtg cgcctgcctt
      121 ttccgggggc gggggcctgg cccgcgcgct cccctcccgc aggcgccacc tcggacatcc
      181 ccgggattgc tacttctctg ccaacttcgc caactcgcca gcacttggag aggcccggct
      241 cccctcccgg cgccctctga ccgcccccgc cccgcgcgct ctccgaccac cgcctctcgg
      301 atgaccaggt tccaggggag ctgagcgagt cgcctccccc gcccagcttc agccctggct
      361 gcagctgcag cgcgagccat gcgcccccag tgcaccccgg cccggcccac cgccccgggg
      421 ccattctgct gaccgcccag ccccgagccc cgacagtggc aagttgcggc tactgcagtt
      481 gcaagctccg gccaacccgg aggagcccca gcggggagcg cagtgctgcg ccccccgccc
      541 ccgcgcgccc cgcagcagcc gggcgttcac tcatcctccc tcccccaccg tccctccctt
      601 ttctcctcaa gtcctgaagt tgagtttgag aggcgacacg gcggcggcgg ccgcgctgct
      661 cccgctcctc tgcctcccca tggatatgca ctgcaaagca gaccccttct ccgcgatgca
      721 cccagggcac gggggtgtga accagctcgg gggggtgttt gtgaacggcc ggcccctacc
      781 cgacgtggtg aggcagcgca tcgtggagct ggcccaccag ggtgtgcggc cctgtgacat
      841 ctcccggcag ctgcgggtca gccacggctg tgtcagcaaa atcctgggca ggtactacga
      901 gaccggcagc atcaagccgg gtgtgatcgg tggctccaag cccaaagtgg cgacgcccaa
      961 agtggtggac aagattgctg aatacaaacg acagaacccg actatgttcg cctgggagat
     1021 tcgagaccgg ctcctggccg agggcatctg tgacaatgac acagtgccca gcgtctcttc
     1081 catcaacaga atcatccgga ccaaagttca gcagcctttc cacccaacgc cggatggggc
     1141 tgggacagga gtgaccgccc ctggccacac cattgttccc agcacggcct cccctcctgt
     1201 ttccagcgcc tccaatgacc cagtgggatc ctactccatc aatgggatcc tggggattcc
     1261 tcgctccaat ggtgagaaga ggaaacgtga tgaagttgag gtatacactg atcctgccca
     1321 cattagagga ggtggaggtt tgcatctggt ctggacttta agagatgtgt ctgagggctc
     1381 agtccccaat ggagattccc agagtggtgt ggacagtttg cggaagcact tgcgagctga
     1441 caccttcacc cagcagcagc tggaagcttt ggatcgggtc tttgagcgtc cttcctaccc
     1501 tgacgtcttc caggcatcag agcacatcaa atcagaacag gggaacgagt actccctccc
     1561 agccctgacc cctgggcttg atgaagtcaa gtcgagtcta tctgcatcca ccaaccctga
     1621 gctgggcagc aacgtgtcag gcacacagac atacccagtt gtgactggtc gtgacatggc
     1681 gagcaccact ctgcctggtt acccccctca cgtgcccccc actggccagg gaagctaccc
     1741 cacctccacc ctggcaggaa tggtgcctgg gagcgagttc tccggcaacc cgtacagcca
     1801 cccccagtac acggcctaca acgaggcttg gagattcagc aaccccgcct tactaagttc
     1861 cccttattat tatagtgccg ccccccgggg ctccgcccct gccgctgctg ccgctgccta
     1921 tgaccgccac tagttaccgc ggggaccaca tcaagcttca ggccgacagc ttcggcctcc
     1981 acatcgtccc cgtctgaccc caccccggag ggagggagga ccgacgcgac gcgatgcctc
     2041 ccggccaccg ccccagcctc accccatccc acgacccccg caacccttca catcaccccc
     2101 ctcgaaggtc ggacaggacg ggtggagccg tgggcgggac cctcaggccc gggcccgccg
     2161 cccccagccc cgcctgccgc ccctccccgc ctgcctggac tgcgcggcgc cgtgaggggg
     2221 attcggccca gctcgtcccg gcctccacca agccagcccc gaagcccgcc agccaccctg
     2281 ccggactcgg gcgcgacctg ctggcgcgcg ccggatgttt ctgtgacaca caatcagcgc
     2341 ggaccgcagc gcggcccagc cccgggcacc cgcctcggac gctcgggcgc caggaggctt
     2401 cgctggaggg gctgggccaa ggagattaag aagaaaacga ctttctgcag gaggaagagc
     2461 ccgctgccga atccctggga aaaattcttt tcccccagtg ccagccggac tgccctcgcc
     2521 ttccgggtgt gccctgtccc agaagatgga atgggggtgt gggggtccgg ctctaggaac
     2581 gggctttggg ggcgtcaggt ctttccaagg ttgggaccca aggatcgggg ggcccagcag
     2641 cccgcaccga tcgagccgga ctctcggctc ttcactgctc ctcctggcct gcctagttcc
     2701 ccagggcccg gcacctcctg ctgcgagacc cggctctcag ccctgccttg cccctacctc
     2761 agcgtctctt ccacctgctg gcctcccagt ttcccctcct gccagtcctt cgcctgtccc
     2821 ttgacgccct gcatcctcct ccctgactcg cagccccatc ggacgctctc ccgggaccgc
     2881 cgcaggacca gtttccatag actgcggact ggggtcttcc tccagcagtt acttgatgcc
     2941 ccctcccccg acacagactc tcaatctgcc ggtggtaaga accggttctg agctggcgtc
     3001 tgagctgctg cggggtggaa gtggggggct gcccactcca ctcctcccat cccctcccag
     3061 cctcctcctc cggcaggaac tgaacagaac cacaaaaagt ctacatttat ttaatatgat
     3121 ggtctttgca aaaaggaaca aaacaacaca aaagcccacc aggctgctgc tttgtggaaa
     3181 gacggtgtgt gtcgtgtgaa ggcgaaaccc ggtgtacata acccctcccc ctccgccccg
     3241 ccccgcccgg ccccgtagag tccctgtcgc ccgccggccc tgcctgtaga tacgccccgc
     3301 tgtctgtgct gtgagagtcg ccgctcgctg ggggggaagg gggggacaca gctacacgcc
     3361 cattaaagca cagcacgtcc tgggggaggg gggcattttt tatgttacaa aaaaaaatta
     3421 cgaaagaaaa gaaatctcta tgcaaaatga cgaacatggt cctgtggact cctctggcct
     3481 gttttgttgg ctctttctct gtaattccgt gttttcgctt tttcctccct gcccctctct
     3541 ccctctgccc ctctctcctc tccgcttctc tccccctctg tctctgtctc tctccgtctc
     3601 tgtcgctctt gtctgtctgt ctctgctctt tcctcggcct ctctccccag acctggcccg
     3661 gccgccctgt ctccgcaggc tagatccgag gtggcagctc cagcccccgg gctcgccccc
     3721 tcgcgggcgt gccccgcgcg ccccgggcgg ccgaaggccg ggccgccccg tcccgccccg
     3781 tagttgctct ttcggtagtg gcgatgcgcc ctgcatgtct cctcacccgt ggatcgtgac
     3841 gactcgaaat aacagaaaca aagtcaataa agtgaaaata aataaaaatc cttgaacaaa
     3901 tccgaaaagg cttggagtcc tcgcccagat ctctctcccc tgcgagccct ttttatttga
     3961 gaaggaaaaa gagaaaagag aatcgtttaa gggaacccgg cgcccagcca ggctccagtg
     4021 gcccgaacgg ggcggcgagg gcggcgaggg cgccgaggtc cggcccatcc cagtcctgtg
     4081 gggctggccg ggcagagacc ccggacccag gcccaggcct aacctgctaa atgtccccgg
     4141 acggttctgg tctcctcggc cactttcagt gcgtcggttc gttttgattc tttttctttt
     4201 gtgcacataa gaaataaata ataataataa ataaagaata aaattttgta tgtcactc
//
