LOCUS       NM_000325               2294 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens paired like homeodomain 2 (PITX2), transcript variant
            3, mRNA.
ACCESSION   NM_000325
VERSION     NM_000325.6
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 2294)
  AUTHORS   Wang,Z., Wu,D., Zhang,Y., Chen,W., Yang,Y., Yang,Y., Zu,G., An,Y.,
            Yu,X., Qin,Y., Xu,X. and Chen,X.
  TITLE     PITX2 functions as a transcription factor for GPX4 and protects
            pancreatic cancer cells from ferroptosis
  JOURNAL   Exp Cell Res 439 (1), 114074 (2024)
   PUBMED   38710403
  REMARK    GeneRIF: PITX2 functions as a transcription factor for GPX4 and
            protects pancreatic cancer cells from ferroptosis.
REFERENCE   2  (bases 1 to 2294)
  AUTHORS   Jiang,Y., Peng,Y., Tian,Q., Cheng,Z., Feng,B., Hu,J., Xia,L.,
            Guo,H., Xia,K., Zhou,L. and Hu,Z.
  TITLE     Intergenic sequences harboring potential enhancer elements
            contribute to Axenfeld-Rieger syndrome by regulating PITX2
  JOURNAL   JCI Insight 9 (9), e177032 (2024)
   PUBMED   38592784
  REMARK    GeneRIF: Intergenic sequences harboring potential enhancer elements
            contribute to Axenfeld-Rieger syndrome by regulating PITX2.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2294)
  AUTHORS   Kuchler,E.C., de Melo Teixeira do Brasil,J., Madalena,I.R.,
            Proff,P., Baratto-Filho,F., Alam,M.K., Schroder,A.G.D., Lepri,C.P.,
            Kirschneck,C. and de Menezes-Oliveira,M.A.H.
  TITLE     Exploring the association between PITX2, third molars agenesis and
            sella turcica morphology : PITX2, third molars agenesis and sella
            turcica morphology
  JOURNAL   Head Face Med 20 (1), 14 (2024)
   PUBMED   38419062
  REMARK    GeneRIF: Exploring the association between PITX2, third molars
            agenesis and sella turcica morphology : PITX2, third molars
            agenesis and sella turcica morphology.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2294)
  AUTHORS   El-Harasis,M.A., Yoneda,Z.T., Davogustto,G.E., Crawford,D.M.,
            Laws,J.L., Frye,B., Herrmann,T., Patel,B., Touchton,S.A. Jr.,
            Roden,D.M., Richardson,T.D., Saavedra,P., Shen,S.T., Estrada,J.C.,
            Kanagasundram,A.N., Montgomery,J.A., Michaud,G.F., Crossley,G.H.,
            Ellis,C.R. and Shoemaker,M.B.
  TITLE     Pulmonary Vein Myocardial Sleeve Length and its Association With
            Sex and 4q25/PITX2 Genotype
  JOURNAL   JACC Clin Electrophysiol 9 (7 Pt 2), 1147-1157 (2023)
   PUBMED   37495323
  REMARK    GeneRIF: Pulmonary Vein Myocardial Sleeve Length and its
            Association With Sex and 4q25/PITX2 Genotype.
REFERENCE   5  (bases 1 to 2294)
  AUTHORS   van Kampen,S.J., Han,S.J., van Ham,W.B., Kyriakopoulou,E.,
            Stouthart,E.W., Goversen,B., Monshouwer-Kloots,J., Perini,I., de
            Ruiter,H., van der Kraak,P., Vink,A., van Laake,L.W.,
            Groeneweg,J.A., de Boer,T.P., Tsui,H., Boogerd,C.J., van
            Veen,T.A.B. and van Rooij,E.
  TITLE     PITX2 induction leads to impaired cardiomyocyte function in
            arrhythmogenic cardiomyopathy
  JOURNAL   Stem Cell Reports 18 (3), 749-764 (2023)
   PUBMED   36868229
  REMARK    GeneRIF: PITX2 induction leads to impaired cardiomyocyte function
            in arrhythmogenic cardiomyopathy.
REFERENCE   6  (bases 1 to 2294)
  AUTHORS   Amendt,B.A., Sutherland,L.B., Semina,E.V. and Russo,A.F.
  TITLE     The molecular basis of Rieger syndrome. Analysis of Pitx2
            homeodomain protein activities
  JOURNAL   J Biol Chem 273 (32), 20066-20072 (1998)
   PUBMED   9685346
REFERENCE   7  (bases 1 to 2294)
  AUTHORS   Arakawa,H., Nakamura,T., Zhadanov,A.B., Fidanza,V., Yano,T.,
            Bullrich,F., Shimizu,M., Blechman,J., Mazo,A., Canaani,E. and
            Croce,C.M.
  TITLE     Identification and characterization of the ARP1 gene, a target for
            the human acute leukemia ALL1 gene
  JOURNAL   Proc Natl Acad Sci U S A 95 (8), 4573-4578 (1998)
   PUBMED   9539779
REFERENCE   8  (bases 1 to 2294)
  AUTHORS   Alward,W.L., Semina,E.V., Kalenak,J.W., Heon,E., Sheth,B.P.,
            Stone,E.M. and Murray,J.C.
  TITLE     Autosomal dominant iris hypoplasia is caused by a mutation in the
            Rieger syndrome (RIEG/PITX2) gene
  JOURNAL   Am J Ophthalmol 125 (1), 98-100 (1998)
   PUBMED   9437321
REFERENCE   9  (bases 1 to 2294)
  AUTHORS   Semina,E.V., Reiter,R., Leysens,N.J., Alward,W.L., Small,K.W.,
            Datson,N.A., Siegel-Bartelt,J., Bierke-Nelson,D., Bitoun,P.,
            Zabel,B.U., Carey,J.C. and Murray,J.C.
  TITLE     Cloning and characterization of a novel bicoid-related homeobox
            transcription factor gene, RIEG, involved in Rieger syndrome
  JOURNAL   Nat Genet 14 (4), 392-399 (1996)
   PUBMED   8944018
REFERENCE   10 (bases 1 to 2294)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC017068.7 and BC013998.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_000325.5.
            
            Summary: This gene encodes a member of the RIEG/PITX homeobox
            family, which is in the bicoid class of homeodomain proteins. The
            encoded protein acts as a transcription factor and regulates
            procollagen lysyl hydroxylase gene expression. This protein plays a
            role in the terminal differentiation of somatotroph and lactotroph
            cell phenotypes, is involved in the development of the eye, tooth
            and abdominal organs, and acts as a transcriptional regulator
            involved in basal and hormone-regulated activity of prolactin.
            Mutations in this gene are associated with Axenfeld-Rieger
            syndrome, iridogoniodysgenesis syndrome, and sporadic cases of
            Peters anomaly. A similar protein in other vertebrates is involved
            in the determination of left-right asymmetry during development.
            Alternatively spliced transcript variants encoding distinct
            isoforms have been described. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3), also known as ARP1c, lacks
            several exons at the 5' end and has an alternate 5' exon, as
            compared to variant 2. The resulting isoform (c) has a longer and
            distinct N-terminus, as compared to isoform b.
            
            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 :: BC013998.2, AF048722.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2162568 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644743.1/ ENSP00000495061.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-231               AC017068.7         103006-103236       c
            232-2294            BC013998.2         252-2314
FEATURES             Location/Qualifiers
     source          1..2294
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     gene            1..2294
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /note="paired like homeodomain 2"
                     /db_xref="GeneID:5308"
                     /db_xref="HGNC:HGNC:9005"
                     /db_xref="MIM:601542"
     exon            1..822
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /inference="alignment:Splign:2.1.0"
     CDS             618..1592
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /note="isoform c is encoded by transcript variant 3;
                     paired-like homeodomain transcription factor 2; rieg
                     bicoid-related homeobox transcription factor 1;
                     all1-responsive gene 1; solurshin; pituitary homeobox 2;
                     homeobox protein PITX2; ALL1-responsive protein ARP1"
                     /codon_start=1
                     /product="pituitary homeobox 2 isoform c"
                     /protein_id="NP_000316.2"
                     /db_xref="CCDS:CCDS3694.1"
                     /db_xref="GeneID:5308"
                     /db_xref="HGNC:HGNC:9005"
                     /db_xref="MIM:601542"
                     /translation="MNCMKGPLHLEHRAAGTKLSAVSSSSCHHPQPLAMASVLAPGQP
                     RSLDSSKHRLEVHTISDTSSPEAAEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQ
                     QLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERNQQAELCK
                     NGFGPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMF
                     SPPNSISSMSMSSSMVPSAVTGVPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTP
                     PYVYRDTCNSSLASLRLKAKQHSSFGYASVQNPASNLSACQYAVDRPV"
     exon            823..1028
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..2294
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2278..2283
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /note="hexamer: AATATA"
     polyA_site      2294
                     /gene="PITX2"
                     /gene_synonym="ARP1; ASGD4; Brx1; IDG2; IGDS; IGDS2; IHG2;
                     IRID2; Otlx2; PTX2; RGS; RIEG; RIEG1; RS"
                     /note="major polyA site"
ORIGIN      
        1 ggagccgcag atctggtccg tcgctcgcct gggtgcctgg agctgagctg cggcaaggcc
       61 cggctcctgt tcgaccgccc gaggggtgtg cgtgtgcgcg ttgcggaggg tgcgctcaga
      121 gggccgcgtc gtggctgcag cggctgctgc cgccgcaggg gatctaatat cacctacctg
      181 tccctgtcac tcttgacact tctctgtcag ggctgccgcg tggggggggg gcgggcagag
      241 cgcggtcggc gttagctttc cttattggag gggttcttgg gggagggagg gagagaagaa
      301 gggggtcttt gcccactctt gtttcgcttt ggagcttgga agcctgctcc ctaaagacgc
      361 tctgagtggt gcccttctgc ccacatccca tgtcttcgtt tgcccgctga ctttccgtct
      421 ccggactttt tcgcttgagc cttccggagg agacgggggc agcttggctt gagaactcgg
      481 cgggggttgc gtcccctggc tctccccgca gcggggaaac tccgcgccta gagcgcgacc
      541 cggagcgggc agcggcggct acgggggctc ggcggggcag tagccaagga ctagtagagc
      601 gtcgcgctcc ctcgtccatg aactgcatga aaggcccgct tcacttggag caccgagcag
      661 cggggaccaa gctgtcggcc gtctcctcat cttcctgtca ccatccccag ccgttagcca
      721 tggcttcggt tctggctccc ggtcagcccc ggtcgctgga ctcctccaag cacaggctgg
      781 aggtgcacac catctccgac acctccagcc cggaggccgc agagaaagat aaaagccagc
      841 aggggaagaa tgaggacgtg ggcgccgagg acccgtctaa gaagaagcgg caaaggcggc
      901 agcggactca ctttaccagc cagcagctcc aggagctgga ggccactttc cagaggaacc
      961 gctacccgga catgtccaca cgcgaagaaa tcgctgtgtg gaccaacctt acggaagccc
     1021 gagtccgggt ttggttcaag aatcgtcggg ccaaatggag aaagagggag cgcaaccagc
     1081 aggccgagct atgcaagaat ggcttcgggc cgcagttcaa tgggctcatg cagccctacg
     1141 acgacatgta cccaggctat tcctacaaca actgggccgc caagggcctt acatccgcct
     1201 ccctatccac caagagcttc cccttcttca actctatgaa cgtcaacccc ctgtcatcac
     1261 agagcatgtt ttccccaccc aactctatct cgtccatgag catgtcgtcc agcatggtgc
     1321 cctcagcagt gacaggcgtc ccgggctcca gtctcaacag cctgaataac ttgaacaacc
     1381 tgagtagccc gtcgctgaat tccgcggtgc cgacgcctgc ctgtccttac gcgccgccga
     1441 ctcctccgta tgtttatagg gacacgtgta actcgagcct ggccagcctg agactgaaag
     1501 caaagcagca ctccagcttc ggctacgcca gcgtgcagaa cccggcctcc aacctgagtg
     1561 cttgccagta tgcagtggac cggcccgtgt gagccgcacc cacagcgccg ggatcctagg
     1621 accttgccgg atggggcaac tccgcccttg aaagactggg aattatgcta gaaggtcgtg
     1681 ggcactaaag aaagggagag aaagagaagc tatatagaga aaaggaaacc actgaatcaa
     1741 agagagagct cctttgattt caaagggatg tcctcagtgt ctgacatctt tcactacaag
     1801 tatttctaac agttgcaagg acacatacac aaacaaatgt ttgactggat atgacatttt
     1861 aacattacta taagcttgtt attttttaag tttagcattg ttaacattta aatgactgaa
     1921 aggatgtata tatatcgaaa tgtcaaatta attttataaa agcagttgtt agtaatatca
     1981 caacagtgtt tttaaaggtt aggctttaaa ataaagcatg ttatacagaa gcgattagga
     2041 tttttcgctt gcgagcaagg gagtgtatat actaaatgcc acactgtatg tttctaacat
     2101 attattatta ttataaaaaa tgtgtgaata tcagttttag aatagtttct ctggtggatg
     2161 caatgatgtt tctgaaactg ctatgtacaa cctaccctgt gtataacatt tcgtacaata
     2221 ttattgtttt acttttcagc aaatatgaaa caaatgtgtt ttatttcatg ggagtaaaat
     2281 atactgcata caaa
//
