LOCUS       NM_014249               1992 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens nuclear receptor subfamily 2 group E member 3 (NR2E3),
            transcript variant 2, mRNA.
ACCESSION   NM_014249
VERSION     NM_014249.4
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 1992)
  AUTHORS   Leung,Y.K., Lee,S.G., Wang,J., Guruvaiah,P., Rusch,N.J., Ho,S.M.,
            Park,C. and Kim,K.
  TITLE     The Loss of an Orphan Nuclear Receptor NR2E3 Augments
            Wnt/beta-catenin Signaling via Epigenetic Dysregulation that
            Enhances Sp1-beta catenin-p300 Interactions in Hepatocellular
            Carcinoma
  JOURNAL   Adv Sci (Weinh) 11 (29), e2308539 (2024)
   PUBMED   38790135
  REMARK    GeneRIF: The Loss of an Orphan Nuclear Receptor NR2E3 Augments
            Wnt/beta-catenin Signaling via Epigenetic Dysregulation that
            Enhances Sp1-beta catenin-p300 Interactions in Hepatocellular
            Carcinoma.
REFERENCE   2  (bases 1 to 1992)
  AUTHORS   Mullin,N.K., Bohrer,L.R., Voigt,A.P., Lozano,L.P., Wright,A.T.,
            Bonilha,V.L., Mullins,R.F., Stone,E.M. and Tucker,B.A.
  TITLE     NR2E3 loss disrupts photoreceptor cell maturation and fate in human
            organoid models of retinal development
  JOURNAL   J Clin Invest 134 (11), e173892 (2024)
   PUBMED   38652563
  REMARK    GeneRIF: NR2E3 loss disrupts photoreceptor cell maturation and fate
            in human organoid models of retinal development.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1992)
  AUTHORS   Xiao,S., Yi,Z., Xiao,X., Li,S., Jia,X., Lian,P., Sun,W., Wang,P.,
            Lu,L. and Zhang,Q.
  TITLE     Clinical and Genetic Features of NR2E3-Associated Retinopathy: A
            Report of Eight Families with a Longitudinal Study and Literature
            Review
  JOURNAL   Genes (Basel) 14 (8), 1525 (2023)
   PUBMED   37628579
  REMARK    GeneRIF: Clinical and Genetic Features of NR2E3-Associated
            Retinopathy: A Report of Eight Families with a Longitudinal Study
            and Literature Review.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1992)
  AUTHORS   Toms,M., Ward,N. and Moosajee,M.
  TITLE     Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3): Role in
            Retinal Development and Disease
  JOURNAL   Genes (Basel) 14 (7), 1325 (2023)
   PUBMED   37510230
  REMARK    GeneRIF: Nuclear Receptor Subfamily 2 Group E Member 3 (NR2E3):
            Role in Retinal Development and Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1992)
  AUTHORS   Al-Khuzaei,S., Broadgate,S., Halford,S., Jolly,J.K., Shanks,M.,
            Clouston,P. and Downes,S.M.
  TITLE     Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings
            in Three Patients
  JOURNAL   Genes (Basel) 11 (11), 1288 (2020)
   PUBMED   33138239
  REMARK    GeneRIF: Novel Pathogenic Sequence Variants in NR2E3 and Clinical
            Findings in Three Patients.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1992)
  AUTHORS   Haider,N.B., Jacobson,S.G., Cideciyan,A.V., Swiderski,R.,
            Streb,L.M., Searby,C., Beck,G., Hockey,R., Hanna,D.B., Gorman,S.,
            Duhl,D., Carmi,R., Bennett,J., Weleber,R.G., Fishman,G.A.,
            Wright,A.F., Stone,E.M. and Sheffield,V.C.
  TITLE     Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone
            syndrome, a disorder of retinal cell fate
  JOURNAL   Nat Genet 24 (2), 127-131 (2000)
   PUBMED   10655056
REFERENCE   7  (bases 1 to 1992)
  AUTHORS   Rendtorff,N.D., Vissing,H., Tumer,Z., Silahtaroglu,A. and
            Tommerup,N.
  TITLE     Assignment of the NR2E3 gene to mouse chromosome 9 and to human
            chromosome 15q22.33-->q23
  JOURNAL   Cytogenet Cell Genet 89 (3-4), 279-280 (2000)
   PUBMED   10965145
REFERENCE   8  (bases 1 to 1992)
  AUTHORS   Chen,F., Figueroa,D.J., Marmorstein,A.D., Zhang,Q., Petrukhin,K.,
            Caskey,C.T. and Austin,C.P.
  TITLE     Retina-specific nuclear receptor: A potential regulator of cellular
            retinaldehyde-binding protein expressed in retinal pigment
            epithelium and Muller glial cells
  JOURNAL   Proc Natl Acad Sci U S A 96 (26), 15149-15154 (1999)
   PUBMED   10611353
REFERENCE   9  (bases 1 to 1992)
  AUTHORS   Kobayashi,M., Takezawa,S., Hara,K., Yu,R.T., Umesono,Y., Agata,K.,
            Taniwaki,M., Yasuda,K. and Umesono,K.
  TITLE     Identification of a photoreceptor cell-specific nuclear receptor
  JOURNAL   Proc Natl Acad Sci U S A 96 (9), 4814-4819 (1999)
   PUBMED   10220376
REFERENCE   10 (bases 1 to 1992)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF121129.1, AL711747.1,
            BU732726.1 and AW080977.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_014249.3.
            
            Summary: This protein is part of a large family of nuclear receptor
            transcription factors involved in signaling pathways. Nuclear
            receptors have been shown to regulate pathways involved in
            embryonic development, as well as in maintenance of proper cell
            function in adults. Members of this family are characterized by
            discrete domains that function in DNA and ligand binding. This gene
            encodes a retinal nuclear receptor that is a ligand-dependent
            transcription factor. Defects in this gene are a cause of enhanced
            S cone syndrome. Alternatively spliced transcript variants encoding
            different isoforms have been identified. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (2) differs in the 3' coding
            region and 3' UTR, compared to variant 1. The resulting isoform (b)
            contains a longer C-terminus compared to isoform a.
            
            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 :: AF121129.1, AB307710.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968968 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000617575.5/ ENSP00000482504.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AF121129.1         1-11
            12-12               AL711747.1         19-19
            13-1527             AF121129.1         13-1527
            1528-1958           BU732726.1         30-460              c
            1959-1989           AW080977.1         405-435
            1990-1992           AW080977.1         437-439
FEATURES             Location/Qualifiers
     source          1..1992
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q23"
     gene            1..1992
                     /gene="NR2E3"
                     /gene_synonym="ESCS; PNR; rd7; RNR; RP37"
                     /note="nuclear receptor subfamily 2 group E member 3"
                     /db_xref="GeneID:10002"
                     /db_xref="HGNC:HGNC:7974"
                     /db_xref="MIM:604485"
     exon            1..308
                     /gene="NR2E3"
                     /gene_synonym="ESCS; PNR; rd7; RNR; RP37"
                     /inference="alignment:Splign:2.1.0"
     CDS             191..1423
                     /gene="NR2E3"
                     /gene_synonym="ESCS; PNR; rd7; RNR; RP37"
                     /note="isoform b is encoded by transcript variant 2;
                     retina-specific nuclear receptor; photoreceptor-specific
                     nuclear receptor"
                     /codon_start=1
                     /product="photoreceptor-specific nuclear receptor isoform
                     b"
                     /protein_id="NP_055064.1"
                     /db_xref="CCDS:CCDS73750.1"
                     /db_xref="GeneID:10002"
                     /db_xref="HGNC:HGNC:7974"
                     /db_xref="MIM:604485"
                     /translation="METRPTALMSSTVAAAAPAAGAASRKESPGRWGLGEDPTGVSPS
                     LQCRVCGDSSSGKHYGIYACNGCSGFFKRSVRRRLIYRCQVGAGMCPVDKAHRNQCQA
                     CRLKKCLQAGMNQDAVQNERQPRSTAQVHLDSMESNTESRPESLVAPPAPAGRSPRGP
                     TPMSAARALGHHFMASLITAETCAKLEPEDADENIDVTSNDPEFPSSPYSSSSPCGLD
                     SIHETSARLLFMAVKWAKNLPVFSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCP
                     LLAPPEASAAGGAQGRLTLASMETRVLQETISRFRALAVDPTEFACMKALVLFKPETR
                     GLKDPEHVEALQDQSQVMLSQHSKAHHPSQPVRFGKLLLLLPSLRFITAERIELLFFR
                     KTIGNTPMEKLLCDMFKN"
     exon            309..435
                     /gene="NR2E3"
                     /gene_synonym="ESCS; PNR; rd7; RNR; RP37"
                     /inference="alignment:Splign:2.1.0"
     exon            436..539
                     /gene="NR2E3"
                     /gene_synonym="ESCS; PNR; rd7; RNR; RP37"
                     /inference="alignment:Splign:2.1.0"
     exon            540..761
                     /gene="NR2E3"
                     /gene_synonym="ESCS; PNR; rd7; RNR; RP37"
                     /inference="alignment:Splign:2.1.0"
     exon            762..937
                     /gene="NR2E3"
                     /gene_synonym="ESCS; PNR; rd7; RNR; RP37"
                     /inference="alignment:Splign:2.1.0"
     exon            938..1184
                     /gene="NR2E3"
                     /gene_synonym="ESCS; PNR; rd7; RNR; RP37"
                     /inference="alignment:Splign:2.1.0"
     exon            1185..1290
                     /gene="NR2E3"
                     /gene_synonym="ESCS; PNR; rd7; RNR; RP37"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1992
                     /gene="NR2E3"
                     /gene_synonym="ESCS; PNR; rd7; RNR; RP37"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 agaaatctcc tcaagccaga gcctgtgctg tgaggggctt cgggaccttg gggcagctcc
       61 tgagttcaga cagagttcag gaagggagac aggggcacag agagacagag gttcatggac
      121 tgaggcaaag gctgggccag gctcagcaac ccaggcctcc cgcaggcagg cagaggctgc
      181 cctgtaaccc atggagacca gaccaacagc tctgatgagc tccacagtgg ctgcagctgc
      241 gcctgcagct ggggctgcct ccaggaagga gtctccaggc agatggggcc tgggggagga
      301 tcccacaggc gtgagcccct cgctccagtg ccgcgtgtgc ggagacagca gcagcgggaa
      361 gcactatggc atctatgcct gcaacggctg cagcggcttc ttcaagagga gcgtacggcg
      421 gaggctcatc tacaggtgcc aggtgggggc agggatgtgc cccgtggaca aggcccaccg
      481 caaccagtgc caggcctgcc ggctgaagaa gtgcctgcag gcggggatga accaggacgc
      541 cgtgcagaac gagcgccagc cgcgaagcac agcccaggtc cacctggaca gcatggagtc
      601 caacactgag tcccggccgg agtccctggt ggctcccccg gccccggcag ggcgcagccc
      661 acggggcccc acacccatgt ctgcagccag agccctgggc caccacttca tggccagcct
      721 tataacagct gaaacctgtg ctaagctgga gccagaggat gctgatgaga atattgatgt
      781 caccagcaat gaccctgagt tcccctcctc tccatactcc tcttcctccc cctgcggcct
      841 ggacagcatc catgagacct cggctcgcct actcttcatg gccgtcaagt gggccaagaa
      901 cctgcctgtg ttctccagcc tgcccttccg ggatcaggtg atcctgctgg aagaggcgtg
      961 gagtgaactc tttctcctcg gggccatcca gtggtctctg cctctggaca gctgtcctct
     1021 gctggcaccg cccgaggcct ctgctgccgg tggtgcccag ggccggctca cgctggccag
     1081 catggagacg cgtgtcctgc aggaaactat ctctcggttc cgggcattgg cggtggaccc
     1141 cacggagttt gcctgcatga aggccttggt cctcttcaag ccagagacgc ggggcctgaa
     1201 ggatcctgag cacgtagagg ccttgcagga ccagtcccaa gtgatgctga gccagcacag
     1261 caaggcccac caccccagcc agcccgtgag gtttgggaaa ttgctcctgc tcctcccgtc
     1321 tttgaggttt atcactgcgg aacgcatcga gctcctcttt ttccgcaaga ccatagggaa
     1381 tactccaatg gagaagctcc tttgtgatat gttcaaaaac tagtgggggt ggaggtgaaa
     1441 tgtttccaag cactctggaa aacaatctac tgaaacgaaa catttgccta ctctttgccc
     1501 cagcaattcc tcgtaggtgt gtgtacccag cagaaatgcc caccgaaaga tattgtaaga
     1561 atattcatag cagctttatt cataatagcc ccaaactgta tattgatggt aggatgaatt
     1621 aacaagttgt ggtatattca tataatgaaa aataatttaa aaagaatgaa ttacggatac
     1681 atgtggcaac acaggtaaac ttcacagaca taaaagttga atgaaagaag ccaggccgaa
     1741 gttccattta tgcagagttc aggaacaggc aagactaatt gacaataata gaagttggaa
     1801 tagtggttac ttctgggtgg tgggggattg atacagaggg ggctcatggg agccctctgg
     1861 tgtaccagaa atgttgattt tgatctgggc agtggtttca caaatgtatt catacgtaat
     1921 aattcattga gctgtgcact ttattttgtt agacctcaat aaaaaagtaa aaaaaaaaaa
     1981 caaaaaaaac ca
//
