LOCUS       NM_000278               4189 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens paired box 2 (PAX2), transcript variant b, mRNA.
ACCESSION   NM_000278
VERSION     NM_000278.5
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 4189)
  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 4189)
  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 4189)
  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 4189)
  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 4189)
  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 4189)
  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 4189)
  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 4189)
  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 4189)
  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 4189)
  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, M89470.1 and
            AL138762.20.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_000278.4.
            
            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: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            CCDS Note: The coding region has been updated to add an additional
            glycine residue in the protein C-terminal region, supported by the
            available transcript and conservation 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 :: M89470.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000355243.8/ ENSP00000347385.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-650               AL589862.28        126704-127353
            651-1587            M89470.1           515-1451
            1588-1598           AL138762.20        5247-5257
            1599-1819           M89470.1           1463-1683
            1820-4189           AL138762.20        23596-25965
FEATURES             Location/Qualifiers
     source          1..4189
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..4189
                     /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..1864
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="isoform b is encoded by transcript variant b;
                     paired box homeotic gene 2; paired box protein Pax-2"
                     /codon_start=1
                     /product="paired box protein Pax-2 isoform b"
                     /protein_id="NP_000269.3"
                     /db_xref="CCDS:CCDS41561.1"
                     /db_xref="GeneID:5076"
                     /db_xref="HGNC:HGNC:8616"
                     /db_xref="MIM:167409"
                     /translation="MDMHCKADPFSAMHPGHGGVNQLGGVFVNGRPLPDVVRQRIVEL
                     AHQGVRPCDISRQLRVSHGCVSKILGRYYETGSIKPGVIGGSKPKVATPKVVDKIAEY
                     KRQNPTMFAWEIRDRLLAEGICDNDTVPSVSSINRIIRTKVQQPFHPTPDGAGTGVTA
                     PGHTIVPSTASPPVSSASNDPVGSYSINGILGIPRSNGEKRKRDEDVSEGSVPNGDSQ
                     SGVDSLRKHLRADTFTQQQLEALDRVFERPSYPDVFQASEHIKSEQGNEYSLPALTPG
                     LDEVKSSLSASTNPELGSNVSGTQTYPVVTGRDMASTTLPGYPPHVPPTGQGSYPTST
                     LAGMVPGSEFSGNPYSHPQYTAYNEAWRFSNPALLSSPYYYSAAPRGSAPAAAAAAYD
                     RH"
     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..1471
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1598
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1700
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1701..1787
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     exon            1788..4189
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3812..3817
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="hexamer: AATAAA"
     polyA_site      3839
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="major polyA site"
     regulatory      4168..4173
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAX2"
                     /gene_synonym="FSGS7; PAPRS; PAX-2"
                     /note="hexamer: AATAAA"
     polyA_site      4189
                     /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 tgaagatgtg tctgagggct cagtccccaa
     1321 tggagattcc cagagtggtg tggacagttt gcggaagcac ttgcgagctg acaccttcac
     1381 ccagcagcag ctggaagctt tggatcgggt ctttgagcgt ccttcctacc ctgacgtctt
     1441 ccaggcatca gagcacatca aatcagaaca ggggaacgag tactccctcc cagccctgac
     1501 ccctgggctt gatgaagtca agtcgagtct atctgcatcc accaaccctg agctgggcag
     1561 caacgtgtca ggcacacaga catacccagt tgtgactggt cgtgacatgg cgagcaccac
     1621 tctgcctggt tacccccctc acgtgccccc cactggccag ggaagctacc ccacctccac
     1681 cctggcagga atggtgcctg ggagcgagtt ctccggcaac ccgtacagcc acccccagta
     1741 cacggcctac aacgaggctt ggagattcag caaccccgcc ttactaagtt ccccttatta
     1801 ttatagtgcc gccccccggg gctccgcccc tgccgctgct gccgctgcct atgaccgcca
     1861 ctagttaccg cggggaccac atcaagcttc aggccgacag cttcggcctc cacatcgtcc
     1921 ccgtctgacc ccaccccgga gggagggagg accgacgcga cgcgatgcct cccggccacc
     1981 gccccagcct caccccatcc cacgaccccc gcaacccttc acatcacccc cctcgaaggt
     2041 cggacaggac gggtggagcc gtgggcggga ccctcaggcc cgggcccgcc gcccccagcc
     2101 ccgcctgccg cccctccccg cctgcctgga ctgcgcggcg ccgtgagggg gattcggccc
     2161 agctcgtccc ggcctccacc aagccagccc cgaagcccgc cagccaccct gccggactcg
     2221 ggcgcgacct gctggcgcgc gccggatgtt tctgtgacac acaatcagcg cggaccgcag
     2281 cgcggcccag ccccgggcac ccgcctcgga cgctcgggcg ccaggaggct tcgctggagg
     2341 ggctgggcca aggagattaa gaagaaaacg actttctgca ggaggaagag cccgctgccg
     2401 aatccctggg aaaaattctt ttcccccagt gccagccgga ctgccctcgc cttccgggtg
     2461 tgccctgtcc cagaagatgg aatgggggtg tgggggtccg gctctaggaa cgggctttgg
     2521 gggcgtcagg tctttccaag gttgggaccc aaggatcggg gggcccagca gcccgcaccg
     2581 atcgagccgg actctcggct cttcactgct cctcctggcc tgcctagttc cccagggccc
     2641 ggcacctcct gctgcgagac ccggctctca gccctgcctt gcccctacct cagcgtctct
     2701 tccacctgct ggcctcccag tttcccctcc tgccagtcct tcgcctgtcc cttgacgccc
     2761 tgcatcctcc tccctgactc gcagccccat cggacgctct cccgggaccg ccgcaggacc
     2821 agtttccata gactgcggac tggggtcttc ctccagcagt tacttgatgc cccctccccc
     2881 gacacagact ctcaatctgc cggtggtaag aaccggttct gagctggcgt ctgagctgct
     2941 gcggggtgga agtggggggc tgcccactcc actcctccca tcccctccca gcctcctcct
     3001 ccggcaggaa ctgaacagaa ccacaaaaag tctacattta tttaatatga tggtctttgc
     3061 aaaaaggaac aaaacaacac aaaagcccac caggctgctg ctttgtggaa agacggtgtg
     3121 tgtcgtgtga aggcgaaacc cggtgtacat aacccctccc cctccgcccc gccccgcccg
     3181 gccccgtaga gtccctgtcg cccgccggcc ctgcctgtag atacgccccg ctgtctgtgc
     3241 tgtgagagtc gccgctcgct gggggggaag ggggggacac agctacacgc ccattaaagc
     3301 acagcacgtc ctgggggagg ggggcatttt ttatgttaca aaaaaaaatt acgaaagaaa
     3361 agaaatctct atgcaaaatg acgaacatgg tcctgtggac tcctctggcc tgttttgttg
     3421 gctctttctc tgtaattccg tgttttcgct ttttcctccc tgcccctctc tccctctgcc
     3481 cctctctcct ctccgcttct ctccccctct gtctctgtct ctctccgtct ctgtcgctct
     3541 tgtctgtctg tctctgctct ttcctcggcc tctctcccca gacctggccc ggccgccctg
     3601 tctccgcagg ctagatccga ggtggcagct ccagcccccg ggctcgcccc ctcgcgggcg
     3661 tgccccgcgc gccccgggcg gccgaaggcc gggccgcccc gtcccgcccc gtagttgctc
     3721 tttcggtagt ggcgatgcgc cctgcatgtc tcctcacccg tggatcgtga cgactcgaaa
     3781 taacagaaac aaagtcaata aagtgaaaat aaataaaaat ccttgaacaa atccgaaaag
     3841 gcttggagtc ctcgcccaga tctctctccc ctgcgagccc tttttatttg agaaggaaaa
     3901 agagaaaaga gaatcgttta agggaacccg gcgcccagcc aggctccagt ggcccgaacg
     3961 gggcggcgag ggcggcgagg gcgccgaggt ccggcccatc ccagtcctgt ggggctggcc
     4021 gggcagagac cccggaccca ggcccaggcc taacctgcta aatgtccccg gacggttctg
     4081 gtctcctcgg ccactttcag tgcgtcggtt cgttttgatt ctttttcttt tgtgcacata
     4141 agaaataaat aataataata aataaagaat aaaattttgt atgtcactc
//
