LOCUS       NM_004452               3090 bp    mRNA    linear   PRI 30-AUG-2020
DEFINITION  Homo sapiens estrogen related receptor beta (ESRRB), transcript
            variant 1, mRNA.
ACCESSION   NM_004452
VERSION     NM_004452.4
KEYWORDS    RefSeq.
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 3090)
  AUTHORS   Zheng R, Li Z, He F, Liu H, Chen J, Chen J, Xie X, Zhou J, Chen H,
            Wu X, Wu J, Chen B, Liu Y, Cui H, Fan L, Sha W, Liu Y, Wang J,
            Huang X, Zhang L, Xu F, Wang J, Feng Y, Qin L, Yang H, Liu Z, Cui
            Z, Liu F, Chen X, Gao S, Sun S, Shi Y and Ge B.
  TITLE     Genome-wide association study identifies two risk loci for
            tuberculosis in Han Chinese
  JOURNAL   Nat Commun 9 (1), 4072 (2018)
   PUBMED   30287856
  REMARK    GeneRIF: rs12437118 associated with tuberculosis risk in Han
            Chinese
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3090)
  AUTHORS   Adachi K, Kopp W, Wu G, Heising S, Greber B, Stehling M,
            Arauzo-Bravo MJ, Boerno ST, Timmermann B, Vingron M and Scholer HR.
  TITLE     Esrrb Unlocks Silenced Enhancers for Reprogramming to Naive
            Pluripotency
  JOURNAL   Cell Stem Cell 23 (2), 266-275 (2018)
   PUBMED   29910149
  REMARK    GeneRIF: The orphan nuclear receptor Esrrb plays a pioneering role
            in recruiting the core pluripotency factors Oct4, Sox2, and Nanog
            to inactive enhancers in closed chromatin during the reprogramming
            of epiblast stem cells.
            Erratum:[Cell Stem Cell. 2018 Dec 6;23(6):900-904. PMID: 30526884]
REFERENCE   3  (bases 1 to 3090)
  AUTHORS   Kumari K, Adhya AK, Rath AK, Reddy PB and Mishra SK.
  TITLE     Estrogen-related receptors alpha, beta and gamma expression and
            function is associated with transcriptional repressor EZH2 in
            breast carcinoma
  JOURNAL   BMC Cancer 18 (1), 690 (2018)
   PUBMED   29940916
  REMARK    GeneRIF: EZH2 as a relevant coregulator for estrogen-related
            receptors alpha, beta and gamma in breast carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3090)
  AUTHORS   Madhu Krishna B, Chaudhary S, Mishra DR, Naik SK, Suklabaidya S,
            Adhya AK and Mishra SK.
  TITLE     Estrogen receptor alpha dependent regulation of estrogen related
            receptor beta and its role in cell cycle in breast cancer
  JOURNAL   BMC Cancer 18 (1), 607 (2018)
   PUBMED   29843638
  REMARK    GeneRIF: Study results indicate that ERRbeta is a negative
            regulator of cell cycle and a possible tumor suppressor in breast
            cancer.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3090)
  AUTHORS   Quinelato V, Bonato LL, Vieira AR, Granjeiro JM, Tesch R and Casado
            PL.
  TITLE     Association Between Polymorphisms in the Genes of Estrogen
            Receptors and the Presence of Temporomandibular Disorders and
            Chronic Arthralgia
  JOURNAL   J. Oral Maxillofac. Surg. 76 (2), 314 (2018)
   PUBMED   29175417
  REMARK    GeneRIF: For the ESRRB (rs1676303) gene, an association was
            observed between the CC (cytosine/cytosine) genotype and the
            presence of articular TMDs associated with other chronic arthralgia
            (P = .02).
REFERENCE   6  (bases 1 to 3090)
  AUTHORS   Chen F, Zhang Q, McDonald T, Davidoff MJ, Bailey W, Bai C, Liu Q
            and Caskey CT.
  TITLE     Identification of two hERR2-related novel nuclear receptors
            utilizing bioinformatics and inverse PCR
  JOURNAL   Gene 228 (1-2), 101-109 (1999)
   PUBMED   10072763
REFERENCE   7  (bases 1 to 3090)
  AUTHORS   Enmark E, Pelto-Huikko M, Grandien K, Lagercrantz S, Lagercrantz J,
            Fried G, Nordenskjold M and Gustafsson JA.
  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   8  (bases 1 to 3090)
  AUTHORS   Sladek R, Beatty B, Squire J, Copeland NG, Gilbert DJ, Jenkins NA
            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   9  (bases 1 to 3090)
  AUTHORS   Shearer,A.E., Hildebrand,M.S. and Smith,R.J.H.
  TITLE     Hereditary Hearing Loss and Deafness Overview
  JOURNAL   (in) Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens
            K and Amemiya A (Eds.);
            GENEREVIEWS((R));
            (1993)
   PUBMED   20301607
REFERENCE   10 (bases 1 to 3090)
  AUTHORS   Giguere V, Yang N, Segui P and Evans RM.
  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.
            On Mar 24, 2020 this sequence version replaced NM_004452.3.
            
            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].
            
            Sequence Note:.
            
            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##
            CDS exon combination :: AY451390.1, BC131517.1 [ECO:0000331]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-316               AC016543.6         76804-77119
            317-380             AC016543.6         109929-109992
            381-434             AC016543.6         113076-113129
            435-844             AC016543.6         144874-145283
            845-961             AC016543.6         168078-168194
            962-1072            AC016543.6         187549-187659
            1073-1234           AC016543.6         188131-188292
            1235-1504           AC008050.6         6324-6593
            1505-1743           AC008050.6         13091-13329
            1744-1947           AC008050.6         14740-14943
            1948-3090           AC008050.6         15572-16714
FEATURES             Location/Qualifiers
     source          1..3090
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q24.3"
     gene            1..3090
                     /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..316
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            317..380
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            381..434
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     misc_feature    397..399
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="upstream in-frame stop codon"
     exon            435..844
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     CDS             448..1974
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     steroid hormone receptor ERR2; estrogen receptor-like 2;
                     nuclear receptor ERRB2; orphan nuclear receptor; nuclear
                     receptor subfamily 3 group B member 2; estrogen-related
                     nuclear receptor beta"
                     /codon_start=1
                     /product="steroid hormone receptor ERR2 isoform 1"
                     /protein_id="NP_004443.3"
                     /db_xref="CCDS:CCDS9850.2"
                     /db_xref="GeneID:2103"
                     /db_xref="HGNC:HGNC:3473"
                     /db_xref="MIM:602167"
                     /translation="

MSSDDRHLGSSCGSFIKTEPSSPSSGIDALSHHSPSGSSDASGGFGLALGTHANGLDSPPMFAGAGLGGTPCRKSYEDCASGIMEDSAIKCEYMLNAIPKRLCLVCGDIASGYHYGVASCEACKAFFKRTIQGNIEYSCPATNECEITKRRRKSCQACRFMKCLKVGMLKEGVRLDRVRGGRQKYKRRLDSESSPYLSLQISPPAKKPLTKIVSYLLVAEPDKLYAMPPPGMPEGDIKALTTLCDLADRELVVIIGWAKHIPGFSSLSLGDQMSLLQSAWMEILILGIVYRSLPYDDKLVYAEDYIMDEEHSRLAGLLELYRAILQLVRRYKKLKVEKEEFVTLKALALANSDSMYIEDLEAVQKLQDLLHEALQDYELSQRHEEPWRTGKLLLTLPLLRQTAAKAVQHFYSVKLQGKVPMHKLFLEMLEAKVGQEQLRGSPKDERMSSHDGKCPFQSAAFTSRDQSNSPGIPNPRPSSPTPLNERGRQISPSTRTPGGQGKHLWLTM"

     mat_peptide     448..1746
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /product="Steroid hormone receptor ERR2.
                     /id=PRO_0000053662"
                     /note="propagated from UniProtKB/Swiss-Prot (O95718.3)"
     misc_feature    724..1080
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="propagated from UniProtKB/Swiss-Prot (O95718.3);
                     Region: Interaction with NANOG.
                     /evidence=ECO:0000250|UniProtKB:Q61539"
     misc_feature    739..1026
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="DNA-binding domain of estrogen related receptors
                     (ERR) is composed of two C4-type zinc fingers; Region:
                     NR_DBD_ERR; cd07170"
                     /db_xref="CDD:143544"
     misc_feature    order(748..750,784..795,808..813,817..825,829..834,
                     841..843,901..906,913..915,922..924,964..969,976..999)
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:143544"
     misc_feature    order(754..756,763..765,805..807,814..816,862..864,
                     880..882,910..912,919..921)
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="zinc binding site [ion binding]; other site"
                     /db_xref="CDD:143544"
     misc_feature    1000..1002
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="Important for stabilizing DNA-binding; propagated
                     from UniProtKB/Swiss-Prot (O95718.3); other site"
     misc_feature    1054..1746
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="propagated from UniProtKB/Swiss-Prot (O95718.3);
                     Region: Essential for ESRRB transcriptional activity and
                     interaction with NCOA3.
                     /evidence=ECO:0000250|UniProtKB:Q61539"
     misc_feature    1081..1740
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="The ligand binding domain of estrogen
                     receptor-related nuclear receptors; Region: NR_LBD_ERR;
                     cd06946"
                     /db_xref="CDD:132744"
     misc_feature    order(1165..1167,1174..1176,1186..1188,1195..1197,
                     1309..1311,1348..1350,1360..1362,1390..1398,1675..1677,
                     1684..1686,1690..1692)
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="ligand binding site [chemical binding]; other site"
                     /db_xref="CDD:132744"
     misc_feature    order(1210..1212,1252..1254,1261..1266,1273..1278,
                     1714..1719,1726..1731)
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="coactivator recognition site [polypeptide binding];
                     other site"
                     /db_xref="CDD:132744"
     misc_feature    1498..1500
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /note="dimer interface [polypeptide binding]; other site"
                     /db_xref="CDD:132744"
     exon            845..961
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            962..1072
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1073..1234
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1235..1504
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1505..1743
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..1947
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
     exon            1948..3090
                     /gene="ESRRB"
                     /gene_synonym="DFNB35; ERR beta-2; ERR2; ERRb; ERRbeta2;
                     ESRL2; NR3B2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      

gctagcagtctgctgaccatcactcagggatataactccacacccccaaattcaagcatgtaagaagacagcaggtccgcagagaggtgtggtcagggacatttcccctggccgggagcccatggagcactgtcctcagagatgcgcaggttaggctcactgtctaggccaggcccaccttagtcactgtggactggcaatggaagctcttcctggacacacctgccctagccctcaccctggggtggaagagaaatgagcttggcttgcaactcagaccattccacggaggcatcctccccttcctgggctggtgaataaaagtttcctgaggtcaaggacttccttttccctgccaaaatggtgtccagaactttgaggccagaggtgatccagtgatttgggagctgcaggtcacacaggctgctcagagggctgctgaacaggatgtcctcggacgacaggcacctgggctccagctgcggctccttcatcaagactgagccgtccagcccgtcctcgggcatcgatgccctcagccaccacagccccagtggctcgtccgacgccagcggcggctttggcctggccctgggcacccacgccaacggtctggactcgccacccatgtttgcaggcgccgggctgggaggcaccccatgccgcaagagctacgaggactgtgccagcggcatcatggaggactcggccatcaagtgcgagtacatgctcaacgccatccccaagcgcctgtgcctcgtgtgcggggacattgcctctggctaccactacggcgtggcctcctgcgaggcttgcaaggccttcttcaagaggactatccaagggaacattgagtacagctgcccggccaccaacgagtgcgagatcaccaaacggaggcgcaagtcctgccaggcctgccgcttcatgaaatgcctcaaagtggggatgctgaaggaaggtgtgcgccttgatcgagtgcgtggaggccgtcagaaatacaagcgacggctggactcagagagcagcccatacctgagcttacaaatttctccacctgctaaaaagccattgaccaagattgtctcatacctactggtggctgagccggacaagctctatgccatgcctccccctggtatgcctgagggggacatcaaggccctgaccactctctgtgacctggcagaccgagagcttgtggtcatcattggctgggccaagcacatcccaggcttctcaagcctctccctgggggaccagatgagcctgctgcagagtgcctggatggaaatcctcatcctgggcatcgtgtaccgctcgctgccctatgacgacaagctggtgtacgctgaggactacatcatggatgaggagcactcccgcctcgcggggctgctggagctctaccgggccatcctgcagctggtacgcaggtacaagaagctcaaggtggagaaggaggagtttgtgacgctcaaggccctggccctcgccaactccgattccatgtacatcgaggatctagaggctgtccagaagctgcaggacctgctgcacgaggcactgcaggactacgagctgagccagcgccatgaggagccctggaggacgggcaagctgctgctgacactgccgctgctgcggcagacggccgccaaggccgtgcagcacttctatagcgtcaaactgcagggcaaagtgcccatgcacaaactcttcctggagatgctggaggccaaggttggccaagagcagcttagaggatctcccaaggatgaaagaatgtcaagccatgatggaaaatgccccttccaatcagctgccttcacaagcagggatcagagcaactccccggggatccccaatccacgcccttctagtccaacccccctcaatgagagaggcaggcagatctcacccagcactaggacaccaggaggccagggaaagcatctctggctcaccatgtaacatctggcttggagcaagtgggtgttctgcacaccaggcagctgcacctcactggatctagtgttgctgcgagtgacctcacttcagagcccctctagcagagtggggcggaagtcctgatggttggtgtccatgaggtggaagctgcttttatacttaaaactcagatcacaacaggaaatgtgtcagtaacaatggaactccatccaatgggaaagttcctggtactgaaggggtccattggacactcagaaaagaagttcaggggccaacttcttagctggaatcctggccagatgaggaccctctccggggaagggagaggactgacttagtggaaggtggtgaagtgaggagagtttaggggaaccttcccccagtggaacagatctcaagtttaccctaaacctgccatttctggaaaatctgtaaagaggaaacagcctgtctcagctgtactctcatgatacaggtcatttgaaatgaaccaagaaataaaacatgaaaatccaaccatggagaaggtggtatggctgggttttgtttggtccccttgtccttatacgttctaaagtttccagactggctttgtcactttgtgaactcgtcatgtgtgaaaaccaatctttgcatatagggaacttcctcgggccacactttaagaaccaagtaagaggctctcaagactccagcagagtcgggaggccatggcagcgccttagaggagctggaacctgcacccacctgtgtcggtggggggggcctcctttccccatagactctgccctccctctgtgcagatggaagtggcaggggagggtgaccagcttgtgacaagaagactgaagggtccagagtccatgctcacggaacagcaccaaagaaaagcactatgtggaaagattgttttattttctaataatgataatatggctggaatggcttcttaagatgtatatattttttaaaatggcagttccccattgcagcatcacctacttgtatgtctttctgcctctgtatatgttctcccagaaacccccatgtaaatcaaatgccctaggatgcttccatcctggtcccatgtatctggaatctaataaataaggaaaggaa

//