LOCUS       NM_001379180            5009 bp    mRNA    linear   PRI 07-DEC-2024
DEFINITION  Homo sapiens estrogen related receptor beta (ESRRB), transcript
            variant 2, mRNA.
ACCESSION   NM_001379180
VERSION     NM_001379180.1
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 5009)
  AUTHORS   Choi,W.H., Cho,Y., Cha,J.H., Lee,D.H., Jeong,J.G., Jung,S.H.,
            Song,J.J., Lee,J.H. and Lee,S.Y.
  TITLE     Functional pathogenicity of ESRRB variant of uncertain significance
            contributes to hearing loss (DFNB35)
  JOURNAL   Sci Rep 14 (1), 21215 (2024)
   PUBMED   39261511
  REMARK    GeneRIF: Functional pathogenicity of ESRRB variant of uncertain
            significance contributes to hearing loss (DFNB35).
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5009)
  AUTHORS   Parija,M., Prakash,S., Krishna,B.M., Dash,S. and Mishra,S.K.
  TITLE     SIRT1 mediates breast cancer development and tumorigenesis
            controlled by estrogen-related receptor beta
  JOURNAL   Breast Cancer 31 (3), 440-455 (2024)
   PUBMED   38421553
  REMARK    GeneRIF: SIRT1 mediates breast cancer development and tumorigenesis
            controlled by estrogen-related receptor beta.
REFERENCE   3  (bases 1 to 5009)
  AUTHORS   Hu,Z., Chen,Z., Jiang,W., Fang,D., Peng,P., Yao,S., Luo,M.,
            Wang,L., Sun,Z., Wang,W., Wang,X., Mao,H., Ai,F. and Zhou,P.
  TITLE     Long Noncoding RNA ACTA2-AS1 Inhibits Cell Growth and Facilitates
            Apoptosis in Gastric Cancer by Binding with miR-6720-5p to Regulate
            ESRRB
  JOURNAL   Biochem Genet 61 (6), 2672-2690 (2023)
   PUBMED   37222961
  REMARK    GeneRIF: Long Noncoding RNA ACTA2-AS1 Inhibits Cell Growth and
            Facilitates Apoptosis in Gastric Cancer by Binding with miR-6720-5p
            to Regulate ESRRB.
REFERENCE   4  (bases 1 to 5009)
  AUTHORS   Li,Q.S. and Zheng,P.S.
  TITLE     ESRRB Inhibits the TGFbeta Signaling Pathway to Drive Cell
            Proliferation in Cervical Cancer
  JOURNAL   Cancer Res 83 (18), 3095-3114 (2023)
   PUBMED   37350664
  REMARK    GeneRIF: ESRRB Inhibits the TGFbeta Signaling Pathway to Drive Cell
            Proliferation in Cervical Cancer.
REFERENCE   5  (bases 1 to 5009)
  AUTHORS   Ghasemnejad,T., Shekari Khaniani,M., Nouri Nojadeh,J. and Mansoori
            Derakhshan,S.
  TITLE     A novel missense variant in ESRRB gene causing autosomal recessive
            non-syndromic hearing loss: in silico analysis of a case
  JOURNAL   BMC Med Genomics 15 (1), 18 (2022)
   PUBMED   35101039
  REMARK    GeneRIF: A novel missense variant in ESRRB gene causing autosomal
            recessive non-syndromic hearing loss: in silico analysis of a case.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5009)
  AUTHORS   Enmark,E., Pelto-Huikko,M., Grandien,K., Lagercrantz,S.,
            Lagercrantz,J., Fried,G., Nordenskjold,M. and Gustafsson,J.A.
  TITLE     Human estrogen receptor beta-gene structure, chromosomal
            localization, and expression pattern
  JOURNAL   J Clin Endocrinol Metab 82 (12), 4258-4265 (1997)
   PUBMED   9398750
REFERENCE   7  (bases 1 to 5009)
  AUTHORS   Sladek,R., Beatty,B., Squire,J., Copeland,N.G., Gilbert,D.J.,
            Jenkins,N.A. and Giguere,V.
  TITLE     Chromosomal mapping of the human and murine orphan receptors
            ERRalpha (ESRRA) and ERRbeta (ESRRB) and identification of a novel
            human ERRalpha-related pseudogene
  JOURNAL   Genomics 45 (2), 320-326 (1997)
   PUBMED   9344655
REFERENCE   8  (bases 1 to 5009)
  AUTHORS   Sem,D.S., Casimiro,D.R., Kliewer,S.A., Provencal,J., Evans,R.M. and
            Wright,P.E.
  TITLE     NMR spectroscopic studies of the DNA-binding domain of the
            monomer-binding nuclear orphan receptor, human estrogen related
            receptor-2. The carboxyl-terminal extension to the zinc-finger
            region is unstructured in the free form of the protein
  JOURNAL   J Biol Chem 272 (29), 18038-18043 (1997)
   PUBMED   9218433
REFERENCE   9  (bases 1 to 5009)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
REFERENCE   10 (bases 1 to 5009)
  AUTHORS   Giguere,V., Yang,N., Segui,P. and Evans,R.M.
  TITLE     Identification of a new class of steroid hormone receptors
  JOURNAL   Nature 331 (6151), 91-94 (1988)
   PUBMED   3267207
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC016543.6 and AC008050.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene encodes a protein with similarity to the
            estrogen receptor. Its function is unknown; however, a similar
            protein in mouse plays an essential role in placental development.
            [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 :: SRR14327317.450706.1,
                                           SRR18074969.1967073.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644823.1/ ENSP00000493776.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-315               AC016543.6         81670-81984
            316-725             AC016543.6         144874-145283
            726-842             AC016543.6         168078-168194
            843-953             AC016543.6         187549-187659
            954-1115            AC016543.6         188131-188292
            1116-1385           AC008050.6         6324-6593
            1386-5009           AC008050.6         13091-16714
FEATURES             Location/Qualifiers
     source          1..5009
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..5009
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="estrogen related receptor beta"
                     /db_xref="GeneID:2103"
                     /db_xref="HGNC:HGNC:3473"
                     /db_xref="MIM:602167"
     exon            1..315
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     CDS             266..1630
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="isoform 2 is encoded by transcript variant 2;
                     steroid hormone receptor ERR2; estrogen receptor-like 2;
                     nuclear receptor ERRB2; estrogen-related nuclear receptor
                     beta; orphan nuclear receptor; nuclear receptor subfamily
                     3 group B member 2"
                     /codon_start=1
                     /product="steroid hormone receptor ERR2 isoform 2"
                     /protein_id="NP_001366109.1"
                     /db_xref="CCDS:CCDS91910.1"
                     /db_xref="GeneID:2103"
                     /db_xref="HGNC:HGNC:3473"
                     /db_xref="MIM:602167"
                     /translation="MDVSELCIPDPLGYHNQLLNRMSSDDRHLGSSCGSFIKTEPSSP
                     SSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPPMFAGAGLGGTPCRKSYEDCAS
                     GIMEDSAIKCEYMLNAIPKRLCLVCGDIASGYHYGVASCEACKAFFKRTIQGNIEYSC
                     PATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRLDSESSPYL
                     SLQISPPAKKPLTKIVSYLLVAEPDKLYAMPPPGMPEGDIKALTTLCDLADRELVVII
                     GWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLVYAEDYIMDEEHSR
                     LAGLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDLEAVQKLQDLLH
                     EALQDYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVPMHKLFLEML
                     EAKV"
     exon            316..725
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            726..842
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            843..953
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1115
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1385
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1386..5009
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4387..4392
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="hexamer: AATAAA"
     polyA_site      4413
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="major polyA site"
     regulatory      4992..4997
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="hexamer: AATAAA"
     polyA_site      5009
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="major polyA site"
ORIGIN      
        1 aagtctcttg tgccccagcc tcctccacgg cttcgcatcc cctctgcccg ctctctccgg
       61 agcgtgcgga tgagtggaga gctgggctgt gcgcgcacgg ctctctgcct ccctctcccc
      121 cgccgcggcc gcctcctccc actctgcgtt ctcgcgctca ctgtgccctg cccgggctcg
      181 caccttgccc gtgcccttca ctcgctcttc cgcgtgattt ccccgccgtc tttctctacc
      241 aactgggaat gctaaaacgg gactgatgga cgtgtccgaa ctctgcatcc cggaccccct
      301 cggctaccac aaccagctgc tgaacaggat gtcctcggac gacaggcacc tgggctccag
      361 ctgcggctcc ttcatcaaga ctgagccgtc cagcccgtcc tcgggcatcg atgccctcag
      421 ccaccacagc cccagtggct cgtccgacgc cagcggcggc tttggcctgg ccctgggcac
      481 ccacgccaac ggtctggact cgccacccat gtttgcaggc gccgggctgg gaggcacccc
      541 atgccgcaag agctacgagg actgtgccag cggcatcatg gaggactcgg ccatcaagtg
      601 cgagtacatg ctcaacgcca tccccaagcg cctgtgcctc gtgtgcgggg acattgcctc
      661 tggctaccac tacggcgtgg cctcctgcga ggcttgcaag gccttcttca agaggactat
      721 ccaagggaac attgagtaca gctgcccggc caccaacgag tgcgagatca ccaaacggag
      781 gcgcaagtcc tgccaggcct gccgcttcat gaaatgcctc aaagtgggga tgctgaagga
      841 aggtgtgcgc cttgatcgag tgcgtggagg ccgtcagaaa tacaagcgac ggctggactc
      901 agagagcagc ccatacctga gcttacaaat ttctccacct gctaaaaagc cattgaccaa
      961 gattgtctca tacctactgg tggctgagcc ggacaagctc tatgccatgc ctccccctgg
     1021 tatgcctgag ggggacatca aggccctgac cactctctgt gacctggcag accgagagct
     1081 tgtggtcatc attggctggg ccaagcacat cccaggcttc tcaagcctct ccctggggga
     1141 ccagatgagc ctgctgcaga gtgcctggat ggaaatcctc atcctgggca tcgtgtaccg
     1201 ctcgctgccc tatgacgaca agctggtgta cgctgaggac tacatcatgg atgaggagca
     1261 ctcccgcctc gcggggctgc tggagctcta ccgggccatc ctgcagctgg tacgcaggta
     1321 caagaagctc aaggtggaga aggaggagtt tgtgacgctc aaggccctgg ccctcgccaa
     1381 ctccgattcc atgtacatcg aggatctaga ggctgtccag aagctgcagg acctgctgca
     1441 cgaggcactg caggactacg agctgagcca gcgccatgag gagccctgga ggacgggcaa
     1501 gctgctgctg acactgccgc tgctgcggca gacggccgcc aaggccgtgc agcacttcta
     1561 tagcgtcaaa ctgcagggca aagtgcccat gcacaaactc ttcctggaga tgctggaggc
     1621 caaggtgtga tggccccgca cacggaccaa tgcccaccta cagacagaca aacggacaga
     1681 ccgaggtgga gacctccaca gccaccagcc tccaccttca acccctgtat catggctctg
     1741 agctgtccca gaggcggggg tttctcacct cctggctgtg tgcagactcc cgggtgcagt
     1801 ggggtggggg acggggatgg gggggcaggg gtgtggggct cgactgtaac tggctttttc
     1861 tttggtatgt ctttccttct ccatggacgg tgcggaggcc tgggccaggg ctgactccct
     1921 tcaggagtgg aggccactgg agcaagtgcc ctctcccctc caccgagcca ccaagaggca
     1981 gcatgtgcat ttcctaactc ccttgccccc tcccccatct gtggcctggg tgggcactgc
     2041 tcaggctgga taccacctgg aggttttcct tccgcagagg gcaggtacgc aagggacaac
     2101 agtatctttc ttccagaggt cctacctgct ctgagatcct ctggggccgg tcaagaggcc
     2161 ccataccttc cacagtttcc actcagcttt cagccagggg gtacccacag gagagcagcg
     2221 gctagagctc aagtgcttcc tgggcacccc acccctcggg gcctaccccc ctgcctgtca
     2281 cccaccgcgc cggtgtccac ctgtcctcct cctcttctcc tccccccggg agtcccccgc
     2341 tacttcctga ccctacctca gagctcactc acccagtggg ttcagccagc cacagcgact
     2401 ccaggggctg tagacaggaa cgcgctggca cagagaagag cggggaccac accatcctcc
     2461 caagaaccct ctccctcttc ctgccttccc cctctccctg aagggcaggt ccaggccaag
     2521 tgagcctgtg agaagctcag gagcctggct ccatccaaga gcaccccggg gggaggatca
     2581 ggacaggatg gacagaggcc cagactcatc tttgccaagc acagaaaggc cgagcagctg
     2641 agataagtag gcaggggagc cccaaaggga gggaactcag cggggtggcc tgcctcatcc
     2701 ttcctggctt cccttccctg cactcagcat catgccacag ggctagtgta ccagtgccac
     2761 aggaggggtg ccctcctacc acacttgggc taccagaggt ttggtgtagc tcccctgggc
     2821 accgcgagca cgccagctct ctggcaggac ccctgcagtc cccctggctg tgccaggtaa
     2881 ccaaccgtct tggtttgtcc aggacgtttc tttatcccag gaaactcctc taccccaggc
     2941 acacggggac agtgggtcac tctatttctg tggatggccg tgaaagtttt cactaactca
     3001 aggggcagcc ctgaacaccc atttgtgctc acaggttggc caagagcagc ttagaggatc
     3061 tcccaaggat gaaagaatgt caagccatga tggaaaatgc cccttccaat cagctgcctt
     3121 cacaagcagg gatcagagca actccccggg gatccccaat ccacgccctt ctagtccaac
     3181 ccccctcaat gagagaggca ggcagatctc acccagcact aggacaccag gaggccaggt
     3241 aactttctgc agcttttcca tagaagccct ggtcccacct ccttggctct accccaggaa
     3301 cctcccggcc tgggcttctg ggctgggacg tgctgaggtc atcccagaca ggagggaggg
     3361 ctggctgaaa tccacaaact gcagagcagc tctctgatgg tgtcccacac agaaaatgtt
     3421 aaggatttca agagccctcc cagaccagtg atgtgtccct ccggctcccc ttgcctgtgg
     3481 ggaatcgggt ctgagtcact tgatgagtag gcactggagc cgttacccag gatgctgcgg
     3541 ccctagccct ccatgcagcc catcttccct catttgggtg gaggcacaca tttggggcaa
     3601 aggccccttc ttggcatcaa ggaacaccag ctacaaacca agtctagcac agtgtttaga
     3661 ggctctgccc tgaggttctg ctccggagaa accttcacag tagagacctt ggggtgtgtg
     3721 ctttgggact ccctcagtct ctcactgtgc tgtgtccttg cagcggggcc gaggtagcac
     3781 cctgctctgt cacttcctgc tcaagctgga ggacccaggc ggcagggcat catgcccagc
     3841 tggcatctgc tgtctgtctt ttctagggaa agcatctctg gctcaccatg taacatctgg
     3901 cttggagcaa gtgggtgttc tgcacaccag gcagctgcac ctcactggat ctagtgttgc
     3961 tgcgagtgac ctcacttcag agcccctcta gcagagtggg gcggaagtcc tgatggttgg
     4021 tgtccatgag gtggaagctg cttttatact taaaactcag atcacaacag gaaatgtgtc
     4081 agtaacaatg gaactccatc caatgggaaa gttcctggta ctgaaggggt ccattggaca
     4141 ctcagaaaag aagttcaggg gccaacttct tagctggaat cctggccaga tgaggaccct
     4201 ctccggggaa gggagaggac tgacttagtg gaaggtggtg aagtgaggag agtttagggg
     4261 aaccttcccc cagtggaaca gatctcaagt ttaccctaaa cctgccattt ctggaaaatc
     4321 tgtaaagagg aaacagcctg tctcagctgt actctcatga tacaggtcat ttgaaatgaa
     4381 ccaagaaata aaacatgaaa atccaaccat ggagaaggtg gtatggctgg gttttgtttg
     4441 gtccccttgt ccttatacgt tctaaagttt ccagactggc tttgtcactt tgtgaactcg
     4501 tcatgtgtga aaaccaatct ttgcatatag ggaacttcct cgggccacac tttaagaacc
     4561 aagtaagagg ctctcaagac tccagcagag tcgggaggcc atggcagcgc cttagaggag
     4621 ctggaacctg cacccacctg tgtcggtggg gggggcctcc tttccccata gactctgccc
     4681 tccctctgtg cagatggaag tggcagggga gggtgaccag cttgtgacaa gaagactgaa
     4741 gggtccagag tccatgctca cggaacagca ccaaagaaaa gcactatgtg gaaagattgt
     4801 tttattttct aataatgata atatggctgg aatggcttct taagatgtat atatttttta
     4861 aaatggcagt tccccattgc agcatcacct acttgtatgt ctttctgcct ctgtatatgt
     4921 tctcccagaa acccccatgt aaatcaaatg ccctaggatg cttccatcct ggtcccatgt
     4981 atctggaatc taataaataa ggaaaggaa
//
