LOCUS       NM_004789               2396 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens LIM homeobox 2 (LHX2), mRNA.
ACCESSION   NM_004789
VERSION     NM_004789.4
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 2396)
  AUTHORS   Schmid,C.M., Gregor,A., Costain,G., Morel,C.F., Massingham,L.,
            Schwab,J., Quelin,C., Faoucher,M., Kaplan,J., Procopio,R.,
            Saunders,C.J., Cohen,A.S.A., Lemire,G., Sacharow,S.,
            O'Donnell-Luria,A., Segal,R.J., Kianmahd Shamshoni,J.,
            Schweitzer,D., Ebrahimi-Fakhari,D., Monaghan,K., Palculict,T.B.,
            Napier,M.P., Tao,A., Isidor,B., Moradkhani,K., Reis,A., Sticht,H.,
            Chung,W.K. and Zweier,C.
  CONSRTM   Care4Rare Canada
  TITLE     LHX2 haploinsufficiency causes a variable neurodevelopmental
            disorder
  JOURNAL   Genet Med 25 (7), 100839 (2023)
   PUBMED   37057675
  REMARK    GeneRIF: LHX2 haploinsufficiency causes a variable
            neurodevelopmental disorder.
REFERENCE   2  (bases 1 to 2396)
  AUTHORS   Cohen-Gulkar,M., David,A., Messika-Gold,N., Eshel,M., Ovadia,S.,
            Zuk-Bar,N., Idelson,M., Cohen-Tayar,Y., Reubinoff,B., Ziv,T.,
            Shamay,M., Elkon,R. and Ashery-Padan,R.
  TITLE     The LHX2-OTX2 transcriptional regulatory module controls retinal
            pigmented epithelium differentiation and underlies genetic risk for
            age-related macular degeneration
  JOURNAL   PLoS Biol 21 (1), e3001924 (2023)
   PUBMED   36649236
  REMARK    GeneRIF: The LHX2-OTX2 transcriptional regulatory module controls
            retinal pigmented epithelium differentiation and underlies genetic
            risk for age-related macular degeneration.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2396)
  AUTHORS   Xiao,J., Xie,Y., Duan,Q., Liu,T., Ye,R., Duan,X., Le,Z., Deng,N.
            and Liu,F.
  TITLE     LIM Homeobox 2 Increases Adhesion-Regulating Molecule 1
            Transcription to Facilitate the Pathological Progression of
            Oxidized Low-Density Lipoprotein-Stimulated Atherosclerotic Cell
            Models
  JOURNAL   Int Heart J 64 (4), 750-758 (2023)
   PUBMED   37518356
  REMARK    GeneRIF: LIM Homeobox 2 Increases Adhesion-Regulating Molecule 1
            Transcription to Facilitate the Pathological Progression of
            Oxidized Low-Density Lipoprotein-Stimulated Atherosclerotic Cell
            Models.
REFERENCE   4  (bases 1 to 2396)
  AUTHORS   Xie,T., Du,K., Liu,W., Liu,C., Wang,B., Tian,Y., Li,R., Huang,X.,
            Lin,J., Jian,H., Zhang,J. and Yuan,Y.
  TITLE     LHX2 facilitates the progression of nasopharyngeal carcinoma via
            activation of the FGF1/FGFR axis
  JOURNAL   Br J Cancer 127 (7), 1239-1253 (2022)
   PUBMED   35864158
  REMARK    GeneRIF: LHX2 facilitates the progression of nasopharyngeal
            carcinoma via activation of the FGF1/FGFR axis.
REFERENCE   5  (bases 1 to 2396)
  AUTHORS   Goos,H., Kinnunen,M., Salokas,K., Tan,Z., Liu,X., Yadav,L.,
            Zhang,Q., Wei,G.H. and Varjosalo,M.
  TITLE     Human transcription factor protein interaction networks
  JOURNAL   Nat Commun 13 (1), 766 (2022)
   PUBMED   35140242
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2396)
  AUTHORS   Glenn,D.J. and Maurer,R.A.
  TITLE     MRG1 binds to the LIM domain of Lhx2 and may function as a
            coactivator to stimulate glycoprotein hormone alpha-subunit gene
            expression
  JOURNAL   J Biol Chem 274 (51), 36159-36167 (1999)
   PUBMED   10593900
REFERENCE   7  (bases 1 to 2396)
  AUTHORS   Bach,I., Rodriguez-Esteban,C., Carriere,C., Bhushan,A., Krones,A.,
            Rose,D.W., Glass,C.K., Andersen,B., Izpisua Belmonte,J.C. and
            Rosenfeld,M.G.
  TITLE     RLIM inhibits functional activity of LIM homeodomain transcription
            factors via recruitment of the histone deacetylase complex
  JOURNAL   Nat Genet 22 (4), 394-399 (1999)
   PUBMED   10431247
REFERENCE   8  (bases 1 to 2396)
  AUTHORS   Rincon-Limas,D.E., Lu,C.H., Canal,I., Calleja,M.,
            Rodriguez-Esteban,C., Izpisua-Belmonte,J.C. and Botas,J.
  TITLE     Conservation of the expression and function of apterous orthologs
            in Drosophila and mammals
  JOURNAL   Proc Natl Acad Sci U S A 96 (5), 2165-2170 (1999)
   PUBMED   10051612
REFERENCE   9  (bases 1 to 2396)
  AUTHORS   Bendall,A.J., Rincon-Limas,D.E., Botas,J. and Abate-Shen,C.
  TITLE     Protein complex formation between Msx1 and Lhx2 homeoproteins is
            incompatible with DNA binding activity
  JOURNAL   Differentiation 63 (3), 151-157 (1998)
   PUBMED   9697309
REFERENCE   10 (bases 1 to 2396)
  AUTHORS   Wu,H.K., Heng,H.H., Siderovski,D.P., Dong,W.F., Okuno,Y., Shi,X.M.,
            Tsui,L.C. and Minden,M.D.
  TITLE     Identification of a human LIM-Hox gene, hLH-2, aberrantly expressed
            in chronic myelogenous leukaemia and located on 9q33-34.1
  JOURNAL   Oncogene 12 (6), 1205-1212 (1996)
   PUBMED   8649822
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006450.13 and AL158052.10.
            
            On Nov 26, 2018 this sequence version replaced NM_004789.3.
            
            Summary: This gene encodes a protein belonging to a large protein
            family, members of which carry the LIM domain, a unique
            cysteine-rich zinc-binding domain. The encoded protein may function
            as a transcriptional regulator. The protein can recapitulate or
            rescue phenotypes in Drosophila caused by a related protein,
            suggesting conservation of function during evolution. [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 :: AK027597.1, SRR1163658.58779.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2149398
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373615.9/ ENSP00000362717.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-701               AC006450.13        20300-21000         c
            702-904             AC006450.13        18605-18807         c
            905-1308            AC006450.13        17243-17646         c
            1309-1514           AC006450.13        11464-11669         c
            1515-1862           AC006450.13        1-348               c
            1863-2396           AL158052.10        51271-51804
FEATURES             Location/Qualifiers
     source          1..2396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     gene            1..2396
                     /gene="LHX2"
                     /gene_synonym="hLhx2; LH2"
                     /note="LIM homeobox 2"
                     /db_xref="GeneID:9355"
                     /db_xref="HGNC:HGNC:6594"
                     /db_xref="MIM:603759"
     exon            1..701
                     /gene="LHX2"
                     /gene_synonym="hLhx2; LH2"
                     /inference="alignment:Splign:2.1.0"
     CDS             582..1802
                     /gene="LHX2"
                     /gene_synonym="hLhx2; LH2"
                     /note="LIM HOX gene 2; LIM homeobox protein 2; homeobox
                     protein LH-2"
                     /codon_start=1
                     /product="LIM/homeobox protein Lhx2"
                     /protein_id="NP_004780.3"
                     /db_xref="CCDS:CCDS6853.1"
                     /db_xref="GeneID:9355"
                     /db_xref="HGNC:HGNC:6594"
                     /db_xref="MIM:603759"
                     /translation="MLFHSLSGPEVHGVIDEMDRRAKSEAPAISSAIDRGDTETTMPS
                     ISSDRAALCAGCGGKISDRYYLLAVDKQWHMRCLKCCECKLNLESELTCFSKDGSIYC
                     KEDYYRRFSVQRCARCHLGISASEMVMRARDLVYHLNCFTCTTCNKMLTTGDHFGMKD
                     SLVYCRLHFEALLQGEYPAHFNHADVAAAAAAAAAAKSAGLGAAGANPLGLPYYNGVG
                     TVQKGRPRKRKSPGPGADLAAYNAALSCNENDAEHLDRDQPYPSSQKTKRMRTSFKHH
                     QLRTMKSYFAINHNPDAKDLKQLAQKTGLTKRVLQVWFQNARAKFRRNLLRQENTGVD
                     KSTDAALQTGTPSGPASELSNASLSPSSTPTTLTDLTSPTLPTVTSVLTSVPGNLEGH
                     EPHSPSQTTLTNLF"
     exon            702..904
                     /gene="LHX2"
                     /gene_synonym="hLhx2; LH2"
                     /inference="alignment:Splign:2.1.0"
     exon            905..1308
                     /gene="LHX2"
                     /gene_synonym="hLhx2; LH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1309..1514
                     /gene="LHX2"
                     /gene_synonym="hLhx2; LH2"
                     /inference="alignment:Splign:2.1.0"
     exon            1515..2396
                     /gene="LHX2"
                     /gene_synonym="hLhx2; LH2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2374..2379
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LHX2"
                     /gene_synonym="hLhx2; LH2"
                     /note="hexamer: AATAAA"
     polyA_site      2396
                     /gene="LHX2"
                     /gene_synonym="hLhx2; LH2"
                     /note="major polyA site"
ORIGIN      
        1 aattctcccg gtggctcgac tcggctcgca ggcttcggag aaacccctac tccagtcgcc
       61 gactcagcgc ccaagagggt cgccttgggc tgggggcgca ccccagggag gggaggggtc
      121 caggcagctg ggccgccgcg gacacctagc ggcttcaggg tgaaccccga ccgcagccgt
      181 cgccgcctcg ggcagagttt gcgcccttgc tttgcgcccc gggcgctgaa gccgggcggg
      241 cgatgcccgc ggcgtgaaag cgcccgcggc gggcgccgac ctctgtccta gtctcctgct
      301 ccccccgccc cgcttgtccc gtgcccttgt gaccctggct ttggcgccgt cgcccaggcg
      361 ccccgcaatg tagctgcccc tgcgcctcgg cgggaggcgt cctgccccgc gagcgcccgg
      421 ggcccggagc ccggcctggg ggctcagccg agctcgggcg gggccggggc cgcggtggcg
      481 atgcaccggg cccgttagcg ccaggagcgc caggcagctg aggcgggggg caagccctcc
      541 ctcggaggag ccgcgccccc ggccccgccg gtcccgccgc gatgctgttc cacagtctgt
      601 cgggccccga ggtgcacggg gtcatcgacg agatggaccg cagggccaag agcgaggctc
      661 ccgccatcag ctccgccatc gaccgcggcg acaccgagac gaccatgccg tccatcagca
      721 gtgaccgcgc cgcgctgtgc gccggctgcg ggggcaagat ctcggaccgc tactacctgc
      781 tggcggtgga caagcagtgg cacatgcgct gcctcaagtg ctgcgagtgc aagctcaacc
      841 tggagtcgga gctcacctgt ttcagcaagg acggtagcat ctactgcaag gaagactact
      901 acaggcgctt ctctgtgcag cgctgcgccc gctgccacct gggcatctcg gcctcggaga
      961 tggtgatgcg cgctcgggac ttggtttatc acctcaactg cttcacgtgc accacgtgta
     1021 acaagatgct gaccacgggc gaccacttcg gcatgaagga cagcctggtc tactgccgct
     1081 tgcacttcga ggcgctgctg cagggcgagt accccgcaca cttcaaccat gccgacgtgg
     1141 cagcggcggc cgctgcagcc gcggcggcca agagcgcggg gctgggcgca gcaggggcca
     1201 accctctggg tcttccctac tacaatggcg tgggcactgt gcagaagggg cggccgagga
     1261 aacgtaagag cccgggcccc ggtgcggatc tggcggccta caacgctgcg ctaagctgca
     1321 acgaaaacga cgcagagcac ctggaccgtg accagccata cccgagcagc cagaagacca
     1381 agcgcatgcg cacgtccttc aagcaccacc agcttcggac catgaagtct tactttgcca
     1441 ttaaccacaa ccccgacgcc aaggacttga agcagctcgc gcaaaagacg ggcctcacca
     1501 agcgggtcct ccaggtctgg ttccagaacg cccgagccaa gttcaggcgc aacctcttac
     1561 ggcaggaaaa cacgggcgtg gacaagtcga cagacgcggc gctgcagaca gggacgccat
     1621 cgggcccggc ctcggagctc tccaacgcct cgctcagccc ctccagcacg cccaccaccc
     1681 tgacagactt gactagcccc accctgccaa ctgtgacgtc cgtcttaact tctgtgcctg
     1741 gcaacctgga gggccatgag cctcacagcc cctcacaaac gactcttacc aaccttttct
     1801 aatgactcgc aacccctcac cccacaattt ctttaaaaaa gaaattatct ttagttgaat
     1861 tccaagtgta ttttaaaata gaggctttga gcaactaact aaccacattt taggatctcg
     1921 cctggaaaca gaggtaaaaa aaagaagtgt gcgcccggct aatgcagcgg tgtggaccga
     1981 ggaacaactt ggaagatcta cctgcaacac aacatttgtg tcactgtaca gttttgtgga
     2041 ctgagcgagg aaaaacaaca aataatttaa gttggctaga gcttctgtat tttcaaagac
     2101 tgccacgtgc cttaggaata ctgttttatc tccatacttt ggatgacttg ttcatttttc
     2161 tctccctctt tttctctgta tatttatgac cagagcaaaa atgtaaaaaa caaaaaaaac
     2221 aacaaaaaaa gtttgttact ttgaatagtc ctaaaaagaa aaaaagaaaa aaaaaaaagg
     2281 aaaaatcaaa ccccctccaa cggtcgcttt gttgttttag aattttaagg tggaagtctg
     2341 ttcgaatatc agaatttgta aaatctaacc agtaataaaa ccacttattg aaacta
//
