LOCUS       NM_001017420            3754 bp    mRNA    linear   PRI 07-OCT-2024
DEFINITION  Homo sapiens establishment of sister chromatid cohesion
            N-acetyltransferase 2 (ESCO2), mRNA.
ACCESSION   NM_001017420 XM_088331
VERSION     NM_001017420.3
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 3754)
  AUTHORS   Huang,Y., Chen,D., Bai,Y., Zhang,Y., Zheng,Z., Fu,Q., Yi,B.,
            Jiang,Y., Zhang,Z. and Zhu,J.
  TITLE     ESCO2's oncogenic role in human tumors: a pan-cancer analysis and
            experimental validation
  JOURNAL   BMC Cancer 24 (1), 452 (2024)
   PUBMED   38605349
  REMARK    GeneRIF: ESCO2's oncogenic role in human tumors: a pan-cancer
            analysis and experimental validation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3754)
  AUTHORS   Guo,F., Luo,Y., Ye,G. and Tang,W.
  TITLE     Circular RNA METTL15/miR-374a-5p/ESCO2 axis induces colorectal
            cancer development
  JOURNAL   Acta Biochim Pol 70 (3), 541-549 (2023)
   PUBMED   37715994
  REMARK    GeneRIF: Circular RNA METTL15/miR-374a-5p/ESCO2 axis induces
            colorectal cancer development.
REFERENCE   3  (bases 1 to 3754)
  AUTHORS   Zhang,J., Li,L., Miao,Y., Liu,X., Sun,H., Jiang,M., Li,X., Li,Z.,
            Liu,C., Liu,B., Xu,X., Cao,Q., Hou,W., Chen,C. and Lou,H.
  TITLE     Symmetric control of sister chromatid cohesion establishment
  JOURNAL   Nucleic Acids Res 51 (10), 4760-4773 (2023)
   PUBMED   36912084
  REMARK    GeneRIF: Symmetric control of sister chromatid cohesion
            establishment.
REFERENCE   4  (bases 1 to 3754)
  AUTHORS   Ghasemi,A., Farazmand,A., Hassanzadeh,V., Poursani,S., Soltani,S.,
            Akhtari,M., Akhlaghi,M., Farhadi,E., Jamshidi,A. and Mahmoudi,M.
  TITLE     Upregulation of KAT2B and ESCO2 gene expression level in patients
            with rheumatoid arthritis
  JOURNAL   Clin Rheumatol 42 (1), 253-259 (2023)
   PUBMED   36104638
  REMARK    GeneRIF: Upregulation of KAT2B and ESCO2 gene expression level in
            patients with rheumatoid arthritis.
REFERENCE   5  (bases 1 to 3754)
  AUTHORS   Zhang,G., Liu,S.L., Yi,W.T., Dong,Y.P. and Wan,Y.X.
  TITLE     Long noncoding RNA ZFPM2-AS1 regulates renal cell carcinoma
            progression via miR-130a-3p/ESCO2
  JOURNAL   Kaohsiung J Med Sci 38 (6), 530-541 (2022)
   PUBMED   35258173
  REMARK    GeneRIF: Long noncoding RNA ZFPM2-AS1 regulates renal cell
            carcinoma progression via miR-130a-3p/ESCO2.
REFERENCE   6  (bases 1 to 3754)
  AUTHORS   Hou,F. and Zou,H.
  TITLE     Two human orthologues of Eco1/Ctf7 acetyltransferases are both
            required for proper sister-chromatid cohesion
  JOURNAL   Mol Biol Cell 16 (8), 3908-3918 (2005)
   PUBMED   15958495
  REMARK    GeneRIF: EFO1 and EFO2 are targeted to different chromosome
            structures to help establish or maintain sister-chromatid cohesion
REFERENCE   7  (bases 1 to 3754)
  AUTHORS   Vega,H., Waisfisz,Q., Gordillo,M., Sakai,N., Yanagihara,I.,
            Yamada,M., van Gosliga,D., Kayserili,H., Xu,C., Ozono,K.,
            Jabs,E.W., Inui,K. and Joenje,H.
  TITLE     Roberts syndrome is caused by mutations in ESCO2, a human homolog
            of yeast ECO1 that is essential for the establishment of sister
            chromatid cohesion
  JOURNAL   Nat Genet 37 (5), 468-470 (2005)
   PUBMED   15821733
  REMARK    GeneRIF: required for the establishment of sister chromatid
            cohesion during S phase
REFERENCE   8  (bases 1 to 3754)
  AUTHORS   Fallone,C.A.
  TITLE     Epidemiology of the antibiotic resistance of Helicobacter pylori in
            Canada
  JOURNAL   Can J Gastroenterol 14 (10), 879-882 (2000)
   PUBMED   11111111
  REMARK    Review article
REFERENCE   9  (bases 1 to 3754)
  AUTHORS   Vega,H., Gordillo,M. and Jabs,E.W.
  TITLE     ESCO2 Spectrum Disorder
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301332
REFERENCE   10 (bases 1 to 3754)
  AUTHORS   Tomkins,D., Hunter,A. and Roberts,M.
  TITLE     Cytogenetic findings in Roberts-SC phocomelia syndrome(s)
  JOURNAL   Am J Med Genet 4 (1), 17-26 (1979)
   PUBMED   495649
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY882862.1, AF306679.1 and
            AC104997.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001017420.2.
            
            Summary: This gene encodes a protein that may have
            acetyltransferase activity and may be required for the
            establishment of sister chromatid cohesion during the S phase of
            mitosis. Mutations in this gene have been associated with Roberts
            syndrome. [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 :: AL832666.1, SRR1803612.162167.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305188.13/ ENSP00000306999.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2005              AY882862.1         14-2018
            2006-3346           AF306679.1         2018-3358
            3347-3754           AC104997.4         79007-79414         c
FEATURES             Location/Qualifiers
     source          1..3754
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.1"
     gene            1..3754
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /note="establishment of sister chromatid cohesion
                     N-acetyltransferase 2"
                     /db_xref="GeneID:157570"
                     /db_xref="HGNC:HGNC:27230"
                     /db_xref="MIM:609353"
     exon            1..54
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /inference="alignment:Splign:2.1.0"
     exon            55..123
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..1876
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /EC_number="2.3.1.-"
                     /note="ECO1 homolog 2; establishment factor-like protein
                     2"
                     /codon_start=1
                     /product="N-acetyltransferase ESCO2"
                     /protein_id="NP_001017420.1"
                     /db_xref="CCDS:CCDS34872.1"
                     /db_xref="GeneID:157570"
                     /db_xref="HGNC:HGNC:27230"
                     /db_xref="MIM:609353"
                     /translation="MAALTPRKRKQDSLKCDSLLHFTENLFPSPNKKHCFYQNSDKNE
                     ENLHCSQQEHFVLSALKTTEINRLPSANQGSPFKSALSTVSFYNQNKWYLNPLERKLI
                     KESRSTCLKTNDEDKSFPIVTEKMQGKPVCSKKNNKKPQKSLTAKYQPKYRHIKPVSR
                     NSRNSKQNRVIYKPIVEKENNCHSAENNSNAPRVLSQKIKPQVTLQGGAAFFVRKKSS
                     LRKSSLENEPSLGRTQKSKSEVIEDSDVETVSEKKTFATRQVPKCLVLEEKLKIGLLS
                     ASSKNKEKLIKDSSDDRVSSKEHKVDKNEAFSSEDSLGENKTISPKSTVYPIFSASSV
                     NSKRSLGEEQFSVGSVNFMKQTNIQKNTNTRDTSKKTKDQLIIDAGQKHFGATVCKSC
                     GMIYTASNPEDEMQHVQHHHRFLEGIKYVGWKKERVVAEFWDGKIVLVLPHDPSFAIK
                     KVEDVQELVDNELGFQQVVPKCPNKIKTFLFISDEKRVVGCLIAEPIKQAFRVLSEPI
                     GPESPSSTECPRAWQCSDVPEPAVCGISRIWVFRLKRRKRIARRLVDTLRNCFMFGCF
                     LSTDEIAFSDPTPDGKLFATKYCNTPNFLVYNFNS"
     exon            124..931
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1025
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1083
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /inference="alignment:Splign:2.1.0"
     exon            1084..1201
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1333
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..1423
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1567
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /inference="alignment:Splign:2.1.0"
     exon            1568..1743
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..3754
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3318..3323
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /note="hexamer: ATTAAA"
     polyA_site      3346
                     /gene="ESCO2"
                     /gene_synonym="2410004I17Rik; EFO2; EFO2p; hEFO2; JHS;
                     RBS"
                     /note="major polyA site"
ORIGIN      
        1 gctcacggag cggctggcta ggctgaggag agctcgccgg gctctgaggc gcaggaattc
       61 aataaagaaa atggcagctc ttactccaag gaagaggaag caggattctt tgaagtgtga
      121 cagcctttta cacttcactg aaaatctgtt tccatcacct aataaaaagc actgttttta
      181 tcaaaacagt gataaaaatg aagaaaacct gcattgctct caacaagagc attttgtttt
      241 aagtgcgctc aaaacaactg aaataaatag actgccatca gcaaatcaag gctcaccatt
      301 taaatctgcg ctctccactg tatcttttta caaccaaaat aagtggtacc tcaatccact
      361 ggagagaaag ctgataaaag agagtagatc tacttgtcta aaaactaatg atgaagataa
      421 atcttttccc attgtgacag aaaaaatgca aggaaaacca gtctgctcca agaagaacaa
      481 caaaaaacca cagaagagtt taactgctaa gtatcaacca aagtatagac acatcaagcc
      541 tgtatcaagg aattctagaa attccaagca aaatcgagtg atctataagc caattgtgga
      601 gaaggaaaat aattgtcatt cagctgaaaa taattccaat gctcctcggg ttctgagcca
      661 aaaaataaaa ccacaagtta cactccaggg tggagcagca ttttttgtta gaaaaaaatc
      721 ttctcttaga aaatcgtccc tggaaaatga gccgtcactg ggacgcaccc aaaagagtaa
      781 atcagaagtc attgaagatt ctgatgtaga gactgtcagt gaaaaaaaaa cttttgcgac
      841 aaggcaagtg ccaaagtgct tggtcctaga agagaaattg aaaattggac tactgagtgc
      901 aagcagtaaa aataaagaga aattaataaa ggattcatca gatgacagag tttcttcaaa
      961 ggaacataaa gttgataaaa atgaggcttt ttcttcagag gattctcttg gtgagaataa
     1021 gacaatttct cctaagtcca ctgtctatcc aatcttcagt gcatcttcag tcaattcaaa
     1081 aagatcttta ggtgaagaac agttttctgt gggatctgtc aacttcatga aacagaccaa
     1141 tatccagaaa aatactaata ccagagatac aagtaaaaaa acaaaagacc agctcatcat
     1201 cgacgctggt cagaaacatt ttggggctac tgtgtgcaag tcttgtggta tgatatatac
     1261 tgcttccaac cctgaagatg aaatgcagca tgtacagcat caccacaggt ttctggaagg
     1321 aatcaaatat gtgggttgga agaaagaacg tgtagtagca gagttttggg atgggaaaat
     1381 cgtgttggtt ctgccacatg atccaagctt tgctatcaaa aaggtagaag atgtccaaga
     1441 acttgttgat aatgaattgg gcttccagca agttgttcct aaatgtccaa acaaaataaa
     1501 aacttttctt tttatatctg atgaaaagag agtagttggg tgtttaattg cagaacccat
     1561 caaacaggca tttcgtgtcc tgtctgaacc aattggtcca gaatccccaa gctctacgga
     1621 atgtcctagg gcttggcaat gttcagatgt accagaacct gcagtctgtg ggataagtag
     1681 aatctgggtt ttcagactga agagaagaaa gcgcattgca agacgactgg ttgataccct
     1741 caggaattgc ttcatgtttg gctgttttct cagcactgat gaaatagcat tttctgaccc
     1801 aacaccagat ggcaagttat ttgcaaccaa gtactgcaac acccctaatt tcctcgtata
     1861 taattttaat agttaaagct gatttcagtt ataaaggagt tactatctgg ataagttcaa
     1921 agagctcctt attataaaat acaaactatt taatatcaaa ataaaaaata ccgagactca
     1981 cactcataca cacacacaca cacacgcaca cacacatatc acagttttgt tccttatgag
     2041 ttgaaaagtc aggaataaat ttgttgaaaa ttatctgggg attcaaagga aaaatctttg
     2101 ggtgattccc tgattagcac tctgaatgtt taattatgaa actttgtagc tataactgga
     2161 aaattacctg actctttgta agagtattaa atacaaagtg atttttctct agaaatgtga
     2221 cctggtcttt tataaagccc actcttagac caggattatc taatgccaca tcagaagcaa
     2281 acaggcaaat ttaaacttgg gcaagtaatt tctgtgccca atttgtaaag ggaattcctg
     2341 aatttttttt tttttttaat agaggcatgg gtctcactgt gttgcccagg ctggtctgaa
     2401 acttttgggc tcaagcgatc ctcccaaaac gctgggatta cagtcatgag ccaccgtgcc
     2461 cagcctaatt cctgacttct ctatacagag tcttcacttg ataggcactc gtctgtagta
     2521 actcagtttg aatatcttta gaaaatgttt agaatttatt tgtaacaaga tggtaaggaa
     2581 taagattatc ccatatgcat ttctgtagag cagaatttga tagcttagtg ttcaatcttt
     2641 ttgaaaataa atgtttacct gtcatcagat ttaattaaaa ttatacttag taattgcact
     2701 attacttagt taatttttgt tgtatggaaa tattggtagt actactttgg gaacctgtta
     2761 ctgacaattg atgtcattaa caaaatgcct agttggatta gatgttttca ttttctaatt
     2821 ttttgcttgt ttaaaatgca ccttacttgt tctgagatac ctggcaaaag tctttacaaa
     2881 atgtatggta atagaaccaa ggttagtaaa tatacatagg ctggtggatg agagaccatg
     2941 gaactgtgta aatacactta aatgttcaca catttttcta gtgtaattct tggatacttt
     3001 aaaaagcaaa acattgttca aattgttttg attctgaaaa atcattcaac tgctaactgg
     3061 caataagact ctaggcaagt cgttttccag attgtaatta tatgtagaaa ctattcatct
     3121 gcattcattt tatttgcctg taagttaaca tgtttccaaa atttaaaagc ctgggtcccc
     3181 aaaagaatgt ggaagtatta aaatgtatgt aattatgcaa acattttaat gctattttct
     3241 gcacttattt cttttaaata ttttatttaa aatttttaat taacattttg tttgcttaat
     3301 gcttttgtta tgaatcaatt aaaattcttt attttataca actaaatctg attttaatta
     3361 ttttattatg aaaatagtat atgttaaata aaattcagat aatacagaaa tagagattgc
     3421 caaaagaaga ggcttcccgg ccgggcgcgg tggctcacgc ctgtaatccc agcactttgg
     3481 gaggccgagg cgggtggatc atgaggtcag gagatcgaga ccatcctggc taacaaggtg
     3541 aaaccccgtc tctactaaaa atacaaaaaa ttagccgggc gcggtggcgg gcgcctgtag
     3601 tcccagctac tcgggaggct gaggcaggag aatggcgtga acccgggagg cgagcttgca
     3661 gtgagccgag attgcgccac tgcagtccgc agtccggcct gggcgacaga gcgagactcc
     3721 gtctcaaaaa aaaaaaaaaa aaaaaaaaaa aaaa
//
