LOCUS       NM_005089               1479 bp    mRNA    linear   PRI 28-OCT-2024
DEFINITION  Homo sapiens zinc finger CCCH-type, RNA binding motif and
            serine/arginine rich 2 (ZRSR2), mRNA.
ACCESSION   NM_005089
VERSION     NM_005089.4
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 1479)
  AUTHORS   Hannes,L., Atzori,M., Goldenberg,A., Argente,J., Attie-Bitach,T.,
            Amiel,J., Attanasio,C., Braslavsky,D.G., Bruel,A.L., Castanet,M.,
            Dubourg,C., Jacobs,A., Lyonnet,S., Martinez-Mayer,J., Perez
            Millan,M.I., Pezzella,N., Pelgrims,E., Aerden,M., Bauters,M.,
            Rochtus,A., Scaglia,P., Swillen,A., Sifrim,A., Tammaro,R.,
            Mau-Them,F.T., Odent,S., Thauvin-Robinet,C., Franco,B. and
            Breckpot,J.
  TITLE     Differential alternative splicing analysis links variation in ZRSR2
            to a novel type of oral-facial-digital syndrome
  JOURNAL   Genet Med 26 (4), 101059 (2024)
   PUBMED   38158857
  REMARK    GeneRIF: Differential alternative splicing analysis links variation
            in ZRSR2 to a novel type of oral-facial-digital syndrome.
REFERENCE   2  (bases 1 to 1479)
  AUTHORS   Kwon,Y.S., Jin,S.W. and Song,H.
  TITLE     Global analysis of binding sites of U2AF1 and ZRSR2 reveals RNA
            elements required for mutually exclusive splicing by the U2- and
            U12-type spliceosome
  JOURNAL   Nucleic Acids Res 52 (3), 1420-1434 (2024)
   PUBMED   38088204
  REMARK    GeneRIF: Global analysis of binding sites of U2AF1 and ZRSR2
            reveals RNA elements required for mutually exclusive splicing by
            the U2- and U12-type spliceosome.
REFERENCE   3  (bases 1 to 1479)
  AUTHORS   Togami,K., Chung,S.S., Madan,V., Booth,C.A.G., Kenyon,C.M.,
            Cabal-Hierro,L., Taylor,J., Kim,S.S., Griffin,G.K., Ghandi,M.,
            Li,J., Li,Y.Y., Angelot-Delettre,F., Biichle,S., Seiler,M.,
            Buonamici,S., Lovitch,S.B., Louissaint,A. Jr., Morgan,E.A.,
            Jardin,F., Piccaluga,P.P., Weinstock,D.M., Hammerman,P.S., Yang,H.,
            Konopleva,M., Pemmaraju,N., Garnache-Ottou,F., Abdel-Wahab,O.,
            Koeffler,H.P. and Lane,A.A.
  TITLE     Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair
            Plasmacytoid Dendritic Cell Activation and Apoptosis
  JOURNAL   Cancer Discov 12 (2), 522-541 (2022)
   PUBMED   34615655
  REMARK    GeneRIF: Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair
            Plasmacytoid Dendritic Cell Activation and Apoptosis.
REFERENCE   4  (bases 1 to 1479)
  AUTHORS   He,H., Hao,J., Dong,X., Wang,Y., Xue,H., Qu,S., Choi,S.Y.C., Ci,X.,
            Wang,Y., Wu,R., Shi,M., Zhao,X., Collins,C., Lin,D. and Wang,Y.
  TITLE     ZRSR2 overexpression is a frequent and early event in
            castration-resistant prostate cancer development
  JOURNAL   Prostate Cancer Prostatic Dis 24 (3), 775-785 (2021)
   PUBMED   33568749
  REMARK    GeneRIF: ZRSR2 overexpression is a frequent and early event in
            castration-resistant prostate cancer development.
REFERENCE   5  (bases 1 to 1479)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 1479)
  AUTHORS   Will,C.L., Schneider,C., Hossbach,M., Urlaub,H., Rauhut,R.,
            Elbashir,S., Tuschl,T. and Luhrmann,R.
  TITLE     The human 18S U11/U12 snRNP contains a set of novel proteins not
            found in the U2-dependent spliceosome
  JOURNAL   RNA 10 (6), 929-941 (2004)
   PUBMED   15146077
REFERENCE   7  (bases 1 to 1479)
  AUTHORS   Scanlan,M.J., Gordan,J.D., Williamson,B., Stockert,E., Bander,N.H.,
            Jongeneel,V., Gure,A.O., Jager,D., Jager,E., Knuth,A., Chen,Y.T.
            and Old,L.J.
  TITLE     Antigens recognized by autologous antibody in patients with
            renal-cell carcinoma
  JOURNAL   Int J Cancer 83 (4), 456-464 (1999)
   PUBMED   10508479
REFERENCE   8  (bases 1 to 1479)
  AUTHORS   Brunner,B., Todt,T., Lenzner,S., Stout,K., Schulz,U., Ropers,H.H.
            and Kalscheuer,V.M.
  TITLE     Genomic structure and comparative analysis of nine Fugu genes:
            conservation of synteny with human chromosome Xp22.2-p22.1
  JOURNAL   Genome Res 9 (5), 437-448 (1999)
   PUBMED   10330123
REFERENCE   9  (bases 1 to 1479)
  AUTHORS   Tronchere,H., Wang,J. and Fu,X.D.
  TITLE     A protein related to splicing factor U2AF35 that interacts with
            U2AF65 and SR proteins in splicing of pre-mRNA
  JOURNAL   Nature 388 (6640), 397-400 (1997)
   PUBMED   9237760
REFERENCE   10 (bases 1 to 1479)
  AUTHORS   Kitagawa,K., Wang,X., Hatada,I., Yamaoka,T., Nojima,H., Inazawa,J.,
            Abe,T., Mitsuya,K., Oshimura,M., Murata,A. et al.
  TITLE     Isolation and mapping of human homologues of an imprinted mouse
            gene U2af1-rs1
  JOURNAL   Genomics 30 (2), 257-263 (1995)
   PUBMED   8586425
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC113480.1.
            
            On Feb 27, 2020 this sequence version replaced NM_005089.3.
            
            Summary: This gene encodes an essential splicing factor. The
            encoded protein associates with the U2 auxiliary factor
            heterodimer, which is required for the recognition of a functional
            3' splice site in pre-mRNA splicing, and may play a role in network
            interactions during spliceosome assembly. [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 :: BC050451.1, D49677.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000307771.8/ ENSP00000303015.7
            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
            1-1479              BC113480.1         34-1512
FEATURES             Location/Qualifiers
     source          1..1479
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.2"
     gene            1..1479
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /note="zinc finger CCCH-type, RNA binding motif and
                     serine/arginine rich 2"
                     /db_xref="GeneID:8233"
                     /db_xref="HGNC:HGNC:23019"
                     /db_xref="MIM:300028"
     exon            1..53
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /inference="alignment:Splign:2.1.0"
     CDS             13..1461
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /note="U2AF35-related protein; zinc finger (CCCH type),
                     RNA binding motif and serine/arginine rich 2; U2(RNU2)
                     small nuclear RNA auxiliary factor 1-like 2; U2 small
                     nuclear ribonucleoprotein auxiliary factor, small subunit
                     2; renal carcinoma antigen NY-REN-20"
                     /codon_start=1
                     /product="U2 small nuclear ribonucleoprotein auxiliary
                     factor 35 kDa subunit-related protein 2"
                     /protein_id="NP_005080.1"
                     /db_xref="CCDS:CCDS14172.1"
                     /db_xref="GeneID:8233"
                     /db_xref="HGNC:HGNC:23019"
                     /db_xref="MIM:300028"
                     /translation="MAAPEKMTFPEKPSHKKYRAALKKEKRKKRRQELARLRDSGLSQ
                     KEEEEDTFIEEQQLEEEKLLERERQRLHEEWLLREQKAQEEFRIKKEKEEAAKKRQEE
                     QERKLKEQWEEQQRKEREEEEQKRQEKKEKEEALQKMLDQAENELENGTTWQNPEPPV
                     DFRVMEKDRANCPFYSKTGACRFGDRCSRKHNFPTSSPTLLIKSMFTTFGMEQCRRDD
                     YDPDASLEYSEEETYQQFLDFYEDVLPEFKNVGKVIQFKVSCNLEPHLRGNVYVQYQS
                     EEECQAALSLFNGRWYAGRQLQCEFCPVTRWKMAICGLFEIQQCPRGKHCNFLHVFRN
                     PNNEFWEANRDIYLSPDRTGSSFGKNSERRERMGHHDDYYSRLRGRRNPSPDHSYKRN
                     GESERKSSRHRGKKSHKRTSKSRERHNSRSRGRNRDRSRDRSRGRGSRSRSRSRSRRS
                     RRSRSQSSSRSRSRGRRRSGNRDRTVQSPKSK"
     exon            54..133
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /inference="alignment:Splign:2.1.0"
     exon            134..215
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /inference="alignment:Splign:2.1.0"
     exon            216..324
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /inference="alignment:Splign:2.1.0"
     exon            325..411
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /inference="alignment:Splign:2.1.0"
     exon            412..450
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /inference="alignment:Splign:2.1.0"
     exon            451..569
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /inference="alignment:Splign:2.1.0"
     exon            570..783
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /inference="alignment:Splign:2.1.0"
     exon            784..839
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /inference="alignment:Splign:2.1.0"
     exon            840..949
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /inference="alignment:Splign:2.1.0"
     exon            950..1479
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1457..1462
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /note="hexamer: AATAAA"
     polyA_site      1479
                     /gene="ZRSR2"
                     /gene_synonym="OFD21; U2AF1-RS2; U2AF1L2; U2AF1RS2; URP;
                     ZC3H22"
                     /note="major polyA site"
ORIGIN      
        1 ggtgccggca agatggctgc gcccgagaag atgacgtttc ccgagaaacc aagccacaaa
       61 aagtacaggg ccgccctgaa gaaggagaaa cgaaagaaac gtcggcagga acttgctcga
      121 ctgagagact caggactctc acagaaggag gaagaggagg acacttttat tgaagaacaa
      181 caactagaag aagagaagct attggaaaga gagaggcaaa gattacatga ggagtggttg
      241 ctaagagagc agaaggcaca agaagaattc agaataaaga aggaaaagga agaggcggct
      301 aaaaaacggc aagaagaaca agagagaaag ttaaaggaac aatgggaaga acagcagagg
      361 aaagagagag aagaggagga gcagaaacga caggagaaga aagaaaaaga ggaagctttg
      421 cagaagatgc tggatcaggc tgaaaatgag ttggaaaatg gtaccacatg gcaaaaccca
      481 gaaccacccg tggatttcag agtaatggag aaggatcgag ctaattgtcc cttctacagt
      541 aaaacaggag cttgcagatt tggagataga tgttcacgta aacataattt cccaacatcc
      601 agtcctaccc ttcttattaa gagcatgttt acgacgtttg gaatggagca gtgcaggagg
      661 gatgactatg accctgacgc aagcctggag tacagcgagg aagaaaccta ccaacagttc
      721 ctagacttct atgaggatgt gttgcccgag ttcaagaacg tggggaaagt gattcagttc
      781 aaggtcagct gcaatttgga acctcacctg aggggcaatg tatatgttca gtaccagtcg
      841 gaagaagaat gccaagcagc cctttctctg tttaacggac gatggtatgc aggacgacag
      901 ctgcagtgtg aattctgccc cgtgacccgg tggaaaatgg cgatttgtgg tttatttgaa
      961 atacaacaat gtccaagagg aaagcactgc aactttcttc atgtgttcag aaatcccaac
     1021 aatgaattct gggaagctaa tagagacatc tacttgtctc cagatcggac tggctcctcc
     1081 tttgggaaga actccgaaag gagggagagg atgggccacc acgacgacta ctacagcagg
     1141 ctgcggggaa ggagaaaccc tagtccagac cactcctaca aaagaaatgg ggaatccgag
     1201 aggaaaagta gtcgtcacag ggggaagaaa tctcacaaac gcacatcaaa gagtcgggag
     1261 aggcacaatt cacgaagcag aggaagaaat agggaccgca gcagggaccg cagccggggc
     1321 cggggcagcc ggagccggag ccggagccgg agccgcagga gccgccgcag ccggagccaa
     1381 agttcctcta ggtcccgaag tcgtggcagg aggaggtcgg gtaatagaga cagaactgtt
     1441 cagagtccca aatccaaata aactagtttt gttcttaaa
//
