LOCUS       NM_001256114            2258 bp    mRNA    linear   PRI 01-JUL-2024
DEFINITION  Homo sapiens LIM homeobox 8 (LHX8), transcript variant 2, mRNA.
ACCESSION   NM_001256114
VERSION     NM_001256114.2
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 2258)
  AUTHORS   Ma,Z., Wang,J., Li,L., Wang,S., Hu,L. and Wang,H.
  TITLE     LIM homeobox 8 reduced apoptosis and promoted periodontal tissue
            regeneration function of dental pulp stem cells
  JOURNAL   Tissue Cell 88, 102387 (2024)
   PUBMED   38703583
  REMARK    GeneRIF: LIM homeobox 8 reduced apoptosis and promoted periodontal
            tissue regeneration function of dental pulp stem cells.
REFERENCE   2  (bases 1 to 2258)
  AUTHORS   Vink,F.J., Meijer,C.J.L.M., Lissenberg-Witte,B.I., Visser,C.,
            Duin,S., Snyman,L.C., Richter,K.L., van der Merwe,F.H., Botha,M.H.,
            Steenbergen,R.D.M. and Dreyer,G.
  TITLE     Validation of ASCL1 and LHX8 Methylation Analysis as Primary
            Cervical Cancer Screening Strategy in South African Women with
            Human Immunodeficiency Virus
  JOURNAL   Clin Infect Dis 76 (3), 416-423 (2023)
   PUBMED   36366827
  REMARK    GeneRIF: Validation of ASCL1 and LHX8 Methylation Analysis as
            Primary Cervical Cancer Screening Strategy in South African Women
            with Human Immunodeficiency Virus.
REFERENCE   3  (bases 1 to 2258)
  AUTHORS   Wang,N., He,J., Feng,X., Liao,S., Zhao,Y., Tang,F. and Kee,K.
  TITLE     Single-cell profiling of lncRNAs in human germ cells and molecular
            analysis reveals transcriptional regulation of LNC1845 on LHX8
  JOURNAL   Elife 12, e78421 (2023)
   PUBMED   36602025
  REMARK    GeneRIF: Single-cell profiling of lncRNAs in human germ cells and
            molecular analysis reveals transcriptional regulation of LNC1845 on
            LHX8.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2258)
  AUTHORS   Zhao,L., Li,Q., Kuang,Y., Xu,P., Sun,X., Meng,Q., Wang,W., Zeng,Y.,
            Chen,B., Fu,J., Dong,J., Zhu,J., Luo,Y., Gu,H., Li,C., Li,C.,
            Wu,L., Mao,X., Fan,H., Liu,R., Zhang,Z., Li,Q., Du,J., He,L.,
            Jin,L., Wang,L. and Sang,Q.
  TITLE     Heterozygous loss-of-function variants in LHX8 cause female
            infertility characterized by oocyte maturation arrest
  JOURNAL   Genet Med 24 (11), 2274-2284 (2022)
   PUBMED   36029299
  REMARK    GeneRIF: Heterozygous loss-of-function variants in LHX8 cause
            female infertility characterized by oocyte maturation arrest.
REFERENCE   5  (bases 1 to 2258)
  AUTHORS   Kim,J.Y., Jeon,S.H., Park,J.Y., Suh,J.D. and Choung,P.H.
  TITLE     Comparative study of LHX8 expression between odontoma and dental
            tissue-derived stem cells
  JOURNAL   J Oral Pathol Med 40 (3), 250-256 (2011)
   PUBMED   21143530
  REMARK    GeneRIF: LHX8 might play an important role in odontoma formation.
            This is 1st report on comparison of LHX8 expression between human
            odontoma-derived mesenchymal cells and normal adult dental
            mesenchymal stem cells and its overexpression in human samples.
REFERENCE   6  (bases 1 to 2258)
  AUTHORS   Qin,Y., Zhao,H., Kovanci,E., Simpson,J.L., Chen,Z.J. and
            Rajkovic,A.
  TITLE     Analysis of LHX8 mutation in premature ovarian failure
  JOURNAL   Fertil Steril 89 (4), 1012-1014 (2008)
   PUBMED   17624344
  REMARK    GeneRIF: Mutations in the LHX8 exons are uncommon in Caucasian
            women with premature ovarian failure.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 2258)
  AUTHORS   Suzumori,N., Pangas,S.A. and Rajkovic,A.
  TITLE     Candidate genes for premature ovarian failure
  JOURNAL   Curr Med Chem 14 (3), 353-357 (2007)
   PUBMED   17305537
  REMARK    Review article
REFERENCE   8  (bases 1 to 2258)
  AUTHORS   Pangas,S.A., Choi,Y., Ballow,D.J., Zhao,Y., Westphal,H.,
            Matzuk,M.M. and Rajkovic,A.
  TITLE     Oogenesis requires germ cell-specific transcriptional regulators
            Sohlh1 and Lhx8
  JOURNAL   Proc Natl Acad Sci U S A 103 (21), 8090-8095 (2006)
   PUBMED   16690745
  REMARK    GeneRIF: Sohlh1 and Lhx8 are two germ cell-specific, critical
            regulators of oogenesis
REFERENCE   9  (bases 1 to 2258)
  AUTHORS   Vieira,A.R., Avila,J.R., Daack-Hirsch,S., Dragan,E., Felix,T.M.,
            Rahimov,F., Harrington,J., Schultz,R.R., Watanabe,Y., Johnson,M.,
            Fang,J., O'Brien,S.E., Orioli,I.M., Castilla,E.E.,
            Fitzpatrick,D.R., Jiang,R., Marazita,M.L. and Murray,J.C.
  TITLE     Medical sequencing of candidate genes for nonsyndromic cleft lip
            and palate
  JOURNAL   PLoS Genet 1 (6), e64 (2005)
   PUBMED   16327884
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2258)
  AUTHORS   Zhao,Y., Guo,Y.J., Tomac,A.C., Taylor,N.R., Grinberg,A., Lee,E.J.,
            Huang,S. and Westphal,H.
  TITLE     Isolated cleft palate in mice with a targeted mutation of the LIM
            homeobox gene lhx8
  JOURNAL   Proc Natl Acad Sci U S A 96 (26), 15002-15006 (1999)
   PUBMED   10611327
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099786.2, BC036423.1 and
            BC040321.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001256114.1.
            
            Summary: The protein encoded by this gene is a member of the LIM
            homeobox family of proteins, which are involved in patterning and
            differentiation of various tissue types. These proteins contain two
            tandemly repeated cysteine-rich double-zinc finger motifs known as
            LIM domains, in addition to a DNA-binding homeodomain. This family
            member is a transcription factor that plays a role in tooth
            morphogenesis. It is also involved in oogenesis and in neuronal
            differentiation. This gene is a candidate gene for cleft palate,
            and it is also associated with odontoma formation. Alternative
            splicing of this gene results in multiple transcript variants.
            [provided by RefSeq, Jan 2012].
            
            Transcript Variant: This variant (2) differs in the 5' UTR, lacks a
            portion of the 5' coding region, and uses a downstream
            translational start codon, compared to variant 1. The encoded
            isoform (2) is shorter at the N-terminus, compared to 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 :: BC036423.1, SRR14038191.435691.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2161920, SAMEA2163459
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000356261.4/ ENSP00000348597.3
            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
            1-494               AC099786.2         143189-143682
            495-655             BC036423.1         7-167
            656-723             AC099786.2         145902-145969
            724-838             BC036423.1         234-348
            839-839             AC099786.2         149808-149808
            840-1004            BC036423.1         350-514
            1005-1005           AC099786.2         151985-151985
            1006-1889           BC036423.1         516-1399
            1890-2258           BC040321.1         2005-2373
FEATURES             Location/Qualifiers
     source          1..2258
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p31.1"
     gene            1..2258
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /note="LIM homeobox 8"
                     /db_xref="GeneID:431707"
                     /db_xref="HGNC:HGNC:28838"
                     /db_xref="MIM:604425"
     exon            1..567
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /inference="alignment:Splign:2.1.0"
     exon            568..654
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /inference="alignment:Splign:2.1.0"
     CDS             580..1620
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /note="isoform 2 is encoded by transcript variant 2;
                     LIM-homeodomain protein Lhx8; LIM/homeobox protein Lhx8"
                     /codon_start=1
                     /product="LIM/homeobox protein Lhx8 isoform 2"
                     /protein_id="NP_001243043.1"
                     /db_xref="CCDS:CCDS58008.1"
                     /db_xref="GeneID:431707"
                     /db_xref="HGNC:HGNC:28838"
                     /db_xref="MIM:604425"
                     /translation="MSEECGRTTALAAGRTRKGAGEEGLVSPEGAGDEDSCSSSAPLS
                     PSSSPRSMASGSGCPPGKCVCNSCGLEIVDKYLLKVNDLCWHVRCLSCSVCRTSLGRH
                     TSCYIKDKDIFCKLDYFRRYGTRCSRCGRHIHSTDWVRRAKGNVYHLACFACFSCKRQ
                     LSTGEEFALVEEKVLCRVHYDCMLDNLKREVENGNGISVEGALLTEQDVNHPKPAKRA
                     RTSFTADQLQVMQAQFAQDNNPDAQTLQKLAERTGLSRRVIQVWFQNCRARHKKHVSP
                     NHSSSTPVTAVPPSRLSPPMLEEMAYSAYVPQDGTMLTALHSYMDAHSPTTLGLQPLL
                     PHSMTQLPISHT"
     exon            655..816
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /inference="alignment:Splign:2.1.0"
     exon            817..938
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1159
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /inference="alignment:Splign:2.1.0"
     exon            1160..1263
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1359
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /inference="alignment:Splign:2.1.0"
     exon            1360..1543
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /inference="alignment:Splign:2.1.0"
     exon            1544..2258
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2117..2122
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /note="hexamer: AATAAA"
     polyA_site      2152
                     /gene="LHX8"
                     /gene_synonym="LHX7"
     regulatory      2226..2231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /note="hexamer: ATTAAA"
     polyA_site      2258
                     /gene="LHX8"
                     /gene_synonym="LHX7"
                     /note="major polyA site"
ORIGIN      
        1 agtgctcact tcactcagag ctcagtgaag ctgggaaagg aattttaaga acggttcatc
       61 agaaagtggt caggccacag cggcctcttt ggacgaagac acacttgtag cattatcctt
      121 ctcggcatca gcttttatta gtggatcggg gcgggggagg ggggagatcg gcagacacgg
      181 acagcctctg accctctgga gttggtatgt gataagcagc cctagcagtg ccatgtattg
      241 gaagaacgat cagatgtttg tgtgtaaact agtagcaaag gacgtgccgg agctggcagt
      301 tccccctgag aaggtgagcg agccgacgcc tggccagacc agctgaatcg cagtgtcctt
      361 gaaactcgag ttgtttgggc tcctaaacaa ggttcagaaa ctacctgtaa cggcctcatc
      421 ttcagacctg gcaatttttt ttttttatta cgtagtagcg ttagtcagta atcattgcac
      481 tccctcccca aaagctcact taacctgaga catggagact gtaatttggg agatgaagcc
      541 tcgagcctaa ggcgctctca ggtccattgt caggggctca tgtcagagga gtgcgggcgg
      601 actacagccc tggcggccgg gaggactcgc aaaggcgccg gggaagaggg actggtgagc
      661 cccgagggag cgggggacga ggactcgtgc tcctcctcgg ccccgctgtc cccgtcgtcc
      721 tcgccccggt ccatggcctc gggctccggc tgccctcctg gcaagtgtgt gtgcaacagt
      781 tgcggcctgg agatcgtgga caaatacctt ctcaaggtga atgacctatg ctggcatgtc
      841 cggtgtctct cctgcagtgt ttgcagaacc tccctaggaa ggcacaccag ctgttatatt
      901 aaagacaaag acattttctg caaacttgat tatttcagaa ggtatggaac tcgctgctct
      961 cgatgtggga gacacatcca ttctactgac tgggtccgga gagccaaggg gaatgtctat
     1021 cacttggcat gctttgcctg cttttcctgc aaaaggcaac tttccacagg agaggagttt
     1081 gctttggtgg aagagaaagt cctctgcaga gtacattatg actgcatgct ggataattta
     1141 aaaagagaag tagaaaatgg gaatgggatt agtgtggaag gtgccctcct cacagagcaa
     1201 gatgttaacc atccaaaacc agcaaaaaga gctcggacca gctttacagc agatcagctt
     1261 caggttatgc aagcacaatt tgctcaggac aacaacccag atgcacagac actccagaaa
     1321 ttggcagaaa ggacaggctt gagcagacgt gtgatacagg tgtggtttca gaattgtaga
     1381 gcacgccaca agaaacacgt cagtcctaat cactcatcct ccaccccagt cacagcagtc
     1441 ccaccctcca ggctgtctcc acccatgtta gaagaaatgg cttattctgc ctacgtgccc
     1501 caagatggaa cgatgttaac tgcgctgcat agttatatgg atgctcattc accaacaact
     1561 cttggactcc agcccttgtt accccattca atgacacaac tgccaataag tcatacctaa
     1621 ttcttttttc agggatagac ttgattaagg atataaattt gtcatttatt atgtataaaa
     1681 taccattgaa aagatattac tgttaatttt ttatttaaca cctaaagcat ttccaacatc
     1741 actttgctgc ccaggtatgt atctatagtt ggcctgcaag acacttttat taattcttca
     1801 ttttttgtaa aacttatgtt tacaagaaga aaacaaatca aaacattttt tgtattgtct
     1861 ggaaatagtt cactctagtg tgtatctgtt aatttatttg tcatcaaaag agcactttgc
     1921 ctaaaagaaa ggactgacaa gtgtgcaaaa tgtttacaat cttttgtgaa attgtagttt
     1981 atcattagtt tgtatctgta agttattgta ataaatatta cctgtatttt ttgttatata
     2041 caactttata ctttgaagct tgtatctgtg aatttgcaac tgaaatttat tttgccaatg
     2101 ttttctgaat gaactgaata aagcttctgt tgtagcatgc catgcaaaca cattattgtg
     2161 tttgtggttg atgaattatg gctgtaaata acactatagt ttaataagcc caccattctg
     2221 agtttattaa acattttcca ttcttgtgaa aatttcaa
//
