LOCUS       NM_003240               2019 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens left-right determination factor 2 (LEFTY2), transcript
            variant 1, mRNA.
ACCESSION   NM_003240
VERSION     NM_003240.5
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 2019)
  AUTHORS   Ashiq,S. and Sabar,M.F.
  TITLE     Association of maternal hypertension and diabetes with variants of
            the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital
            heart defects: a case-control study from Pakistani Population
  JOURNAL   Mol Biol Rep 50 (6), 5013-5020 (2023)
   PUBMED   37097539
  REMARK    GeneRIF: Association of maternal hypertension and diabetes with
            variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with
            congenital heart defects: a case-control study from Pakistani
            Population.
REFERENCE   2  (bases 1 to 2019)
  AUTHORS   Matsumoto,T., Chino,H., Akiya,M., Hashimura,M., Yokoi,A.,
            Tochimoto,M., Nakagawa,M., Jiang,Z. and Saegusa,M.
  TITLE     Requirements of LEFTY and Nodal overexpression for tumor cell
            survival under hypoxia in glioblastoma
  JOURNAL   Mol Carcinog 59 (12), 1409-1419 (2020)
   PUBMED   33111989
  REMARK    GeneRIF: Requirements of LEFTY and Nodal overexpression for tumor
            cell survival under hypoxia in glioblastoma.
REFERENCE   3  (bases 1 to 2019)
  AUTHORS   Yang,Y.R., Bu,F.T., Yang,Y., Li,H., Huang,C., Meng,X.M., Zhang,L.,
            Lv,X.W. and Li,J.
  TITLE     LEFTY2 alleviates hepatic stellate cell activation and liver
            fibrosis by regulating the TGF-beta1/Smad3 pathway
  JOURNAL   Mol Immunol 126, 31-39 (2020)
   PUBMED   32745796
  REMARK    GeneRIF: LEFTY2 alleviates hepatic stellate cell activation and
            liver fibrosis by regulating the TGF-beta1/Smad3 pathway.
REFERENCE   4  (bases 1 to 2019)
  AUTHORS   Zeng,N., Okumura,T., Alauddin,M., Khozooei,S., Rajaxavier,J.,
            Zhang,S., Singh,Y., Shi,B., Brucker,S.Y., Wallwiener,D., Takeda,S.,
            Lang,F. and Salker,M.S.
  TITLE     LEFTY2/endometrial bleeding-associated factor up-regulates Na+
            Coupled Glucose Transporter SGLT1 expression and Glycogen
            Accumulation in Endometrial Cancer Cells
  JOURNAL   PLoS One 15 (4), e0230044 (2020)
   PUBMED   32236143
  REMARK    GeneRIF: The present study demonstrates a novel role of LEFTY2 in
            up-regulating transcript levels and protein abundance of the Na+
            coupled glucose transporter SGLT1, thus stimulating cellular
            glucose uptake and cellular formation of glycogen in endometrial
            cancer cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2019)
  AUTHORS   Sekine,R., Shibata,T. and Ebisuya,M.
  TITLE     Synthetic mammalian pattern formation driven by differential
            diffusivity of Nodal and Lefty
  JOURNAL   Nat Commun 9 (1), 5456 (2018)
   PUBMED   30575724
  REMARK    GeneRIF: In a reaction-diffusion pattern, the effective range of
            Nodal is 3.5 times narrower than that of Lefty2.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2019)
  AUTHORS   Kosaki,K., Bassi,M.T., Kosaki,R., Lewin,M., Belmont,J., Schauer,G.
            and Casey,B.
  TITLE     Characterization and mutation analysis of human LEFTY A and LEFTY
            B, homologues of murine genes implicated in left-right axis
            development
  JOURNAL   Am J Hum Genet 64 (3), 712-721 (1999)
   PUBMED   10053005
REFERENCE   7  (bases 1 to 2019)
  AUTHORS   Oulad-Abdelghani,M., Chazaud,C., Bouillet,P., Mattei,M.G., Dolle,P.
            and Chambon,P.
  TITLE     Stra3/lefty, a retinoic acid-inducible novel member of the
            transforming growth factor-beta superfamily
  JOURNAL   Int J Dev Biol 42 (1), 23-32 (1998)
   PUBMED   9496783
REFERENCE   8  (bases 1 to 2019)
  AUTHORS   Tabibzadeh,S., Kothapalli,R. and Buyuksal,I.
  TITLE     Distinct tumor specific expression of TGFB4 (ebaf)*, a novel human
            gene of the TGF-beta superfamily
  JOURNAL   Front Biosci 2, a18-a25 (1997)
   PUBMED   9230066
  REMARK    GeneRIF: findings show that the TGFB4 (ebaf) mRNA has distinct
            tumor specific expression
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2019)
  AUTHORS   Kothapalli,R., Buyuksal,I., Wu,S.Q., Chegini,N. and Tabibzadeh,S.
  TITLE     Detection of ebaf, a novel human gene of the transforming growth
            factor beta superfamily association of gene expression with
            endometrial bleeding
  JOURNAL   J Clin Invest 99 (10), 2342-2350 (1997)
   PUBMED   9153275
REFERENCE   10 (bases 1 to 2019)
  AUTHORS   Assoian,R.K. and Sporn,M.B.
  TITLE     Type beta transforming growth factor in human platelets: release
            during platelet degranulation and action on vascular smooth muscle
            cells
  JOURNAL   J Cell Biol 102 (4), 1217-1223 (1986)
   PUBMED   3457014
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA269806.1, AK027520.1 and
            AA922485.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_003240.4.
            
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate the mature protein, which
            plays a role in left-right asymmetry determination of organ systems
            during development. The protein may also play a role in endometrial
            bleeding. Mutations in this gene have been associated with
            left-right axis malformations, particularly in the heart and lungs.
            Some types of infertility have been associated with dysregulated
            expression of this gene in the endometrium. This gene is closely
            linked to both a related family member and a related pseudogene.
            This gene encodes multiple isoforms that may undergo similar
            proteolytic processing. [provided by RefSeq, Aug 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AK075344.1, U81523.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366820.10/ ENSP00000355785.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-367               DA269806.1         164-530
            368-2018            AK027520.1         368-2018
            2019-2019           AA922485.1         7-7                 c
FEATURES             Location/Qualifiers
     source          1..2019
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.12"
     gene            1..2019
                     /gene="LEFTY2"
                     /gene_synonym="EBAF; LEFTA; LEFTYA; TGFB4"
                     /note="left-right determination factor 2"
                     /db_xref="GeneID:7044"
                     /db_xref="HGNC:HGNC:3122"
                     /db_xref="MIM:601877"
     exon            1..330
                     /gene="LEFTY2"
                     /gene_synonym="EBAF; LEFTA; LEFTYA; TGFB4"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..1181
                     /gene="LEFTY2"
                     /gene_synonym="EBAF; LEFTA; LEFTYA; TGFB4"
                     /note="isoform 1 preproprotein is encoded by transcript
                     variant 1; transforming growth factor beta-4; TGF-beta-4;
                     protein lefty-2; protein lefty-A; left-right determination
                     factor A; endometrial bleeding-associated factor"
                     /codon_start=1
                     /product="left-right determination factor 2 isoform 1
                     preproprotein"
                     /protein_id="NP_003231.2"
                     /db_xref="CCDS:CCDS1549.1"
                     /db_xref="GeneID:7044"
                     /db_xref="HGNC:HGNC:3122"
                     /db_xref="MIM:601877"
                     /translation="MWPLWLCWALWVLPLAGPGAALTEEQLLGSLLRQLQLSEVPVLD
                     RADMEKLVIPAHVRAQYVVLLRRSHGDRSRGKRFSQSFREVAGRFLASEASTHLLVFG
                     MEQRLPPNSELVQAVLRLFQEPVPKAALHRHGRLSPRSAQARVTVEWLRVRDDGSNRT
                     SLIDSRLVSVHESGWKAFDVTEAVNFWQQLSRPRQPLLLQVSVQREHLGPLASGAHKL
                     VRFASQGAPAGLGEPQLELHTLDLRDYGAQGDCDPEAPMTEGTRCCRQEMYIDLQGMK
                     WAKNWVLEPPGFLAYECVGTCQQPPEALAFNWPFLGPRQCIASETASLPMIVSIKEGG
                     RTRPQVVSLPNMRVQKCSCASDGALVPRRLQP"
     exon            331..577
                     /gene="LEFTY2"
                     /gene_synonym="EBAF; LEFTA; LEFTYA; TGFB4"
                     /inference="alignment:Splign:2.1.0"
     exon            578..817
                     /gene="LEFTY2"
                     /gene_synonym="EBAF; LEFTA; LEFTYA; TGFB4"
                     /inference="alignment:Splign:2.1.0"
     exon            818..2019
                     /gene="LEFTY2"
                     /gene_synonym="EBAF; LEFTA; LEFTYA; TGFB4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2001..2006
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LEFTY2"
                     /gene_synonym="EBAF; LEFTA; LEFTYA; TGFB4"
                     /note="hexamer: AATAAA"
     polyA_site      2019
                     /gene="LEFTY2"
                     /gene_synonym="EBAF; LEFTA; LEFTYA; TGFB4"
                     /note="major polyA site"
ORIGIN      
        1 acacccagct gcctgagacc ctccttcaac ctccctagag gacagcccca ctctgcctcc
       61 tgctccccca gggcagcacc atgtggcccc tgtggctctg ctgggcactc tgggtgctgc
      121 ccctggctgg ccccggggcg gccctgaccg aggagcagct cctgggcagc ctgctgcggc
      181 agctgcagct cagcgaggtg cccgtactgg acagggccga catggagaag ctggtcatcc
      241 ccgcccacgt gagggcccag tatgtagtcc tgctgcggcg cagccacggg gaccgctccc
      301 gcggaaagag gttcagccag agcttccgag aggtggccgg caggttcctg gcgtcggagg
      361 ccagcacaca cctgctggtg ttcggcatgg agcagcggct gccgcccaac agcgagctgg
      421 tgcaggccgt gctgcggctc ttccaggagc cggtccccaa ggccgcgctg cacaggcacg
      481 ggcggctgtc cccgcgcagc gcccaggccc gggtgaccgt cgagtggctg cgcgtccgcg
      541 acgacggctc caaccgcacc tccctcatcg actccaggct ggtgtccgtc cacgagagcg
      601 gctggaaggc cttcgacgtg accgaggccg tgaacttctg gcagcagctg agccggcccc
      661 ggcagccgct gctgctacag gtgtcggtgc agagggagca tctgggcccg ctggcgtccg
      721 gcgcccacaa gctggtccgc tttgcctcgc agggggcgcc agccgggctt ggggagcccc
      781 agctggagct gcacaccctg gacctcaggg actatggagc tcagggcgac tgtgaccctg
      841 aagcaccaat gaccgagggc acccgctgct gccgccagga gatgtacatt gacctgcagg
      901 ggatgaagtg ggccaagaac tgggtgctgg agcccccggg cttcctggct tacgagtgtg
      961 tgggcacctg ccagcagccc ccggaggccc tggccttcaa ttggccattt ctggggccgc
     1021 gacagtgtat cgcctcggag actgcctcgc tgcccatgat cgtcagcatc aaggagggag
     1081 gcaggaccag gccccaggtg gtcagcctgc ccaacatgag ggtgcagaag tgcagctgtg
     1141 cctcggatgg ggcgctcgtg ccaaggaggc tccagccata ggcgcctggt gtatccattg
     1201 agccctctaa ctgaacgtgt gcatagaggt ggtcttaatg taggtcttaa ctttatactt
     1261 agcaagttac tccatcccaa tttagtgctc ctgtgtgacc ttcgccctgt gtccttccat
     1321 ttcctgtctt tcccgtccat cacccatcct aagcacttac gtgagtaaat aatgcagctc
     1381 agatgctgag ctctagtagg aaatgctggc atgctgatta caagatacag ctgagcaatg
     1441 cacacatttt cagctgggag tttctgttct ctggcaaatt cttcactgag tctggaacaa
     1501 taatacccta tgattagaac tggggaaaca gaactgaatt gctgtgttat atgaggaatt
     1561 aaaaccttca aatctctatt tcccccaaat actgacccat tctggacttt tgtaaacata
     1621 cctaggcccc tgttcccctg agagggtgct aagaggaagg atgaagggct tcaggctggg
     1681 ggcagtggac agggaattgg gatacctgga ttctggttct gacagggcca caagctagga
     1741 tctctaacaa acgcagaagg ctttggctcg tcatttcctc ttaaaaagga ggagctgggc
     1801 ttcagctcta agaacttcat tgccctgggg atcagacagc ccctacctac ccctgcccac
     1861 tcctctggag actgagcctt gcccgtgcat atttaggtca tttcccacac tgtcttagag
     1921 aacttgtcac cagaaaccac atgtatttgc atgttttttg ttaatttagc taaagcaatt
     1981 gaatgtagat actcagaaga aataaaaaat gatgtttca
//
