LOCUS       NM_006842               3272 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens splicing factor 3b subunit 2 (SF3B2), mRNA.
ACCESSION   NM_006842 XM_290506
VERSION     NM_006842.3
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 3272)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3272)
  AUTHORS   Yang,F., Bian,T., Zhan,X., Chen,Z., Xing,Z., Larsen,N.A., Zhang,X.
            and Shi,Y.
  TITLE     Mechanisms of the RNA helicases DDX42 and DDX46 in human U2 snRNP
            assembly
  JOURNAL   Nat Commun 14 (1), 897 (2023)
   PUBMED   36797247
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3272)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 3272)
  AUTHORS   Tholen,J., Razew,M., Weis,F. and Galej,W.P.
  TITLE     Structural basis of branch site recognition by the human
            spliceosome
  JOURNAL   Science 375 (6576), 50-57 (2022)
   PUBMED   34822310
REFERENCE   5  (bases 1 to 3272)
  AUTHORS   Timberlake,A.T., Griffin,C., Heike,C.L., Hing,A.V.,
            Cunningham,M.L., Chitayat,D., Davis,M.R., Doust,S.J., Drake,A.F.,
            Duenas-Roque,M.M., Goldblatt,J., Gustafson,J.A., Hurtado-Villa,P.,
            Johns,A., Karp,N., Laing,N.G., Magee,L., Mullegama,S.V.,
            Pachajoa,H., Porras-Hurtado,G.L., Schnur,R.E., Slee,J.,
            Singer,S.L., Staffenberg,D.A., Timms,A.E., Wise,C.A., Zarante,I.,
            Saint-Jeannet,J.P. and Luquetti,D.V.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Haploinsufficiency of SF3B2 causes craniofacial microsomia
  JOURNAL   Nat Commun 12 (1), 4680 (2021)
   PUBMED   34344887
  REMARK    GeneRIF: Haploinsufficiency of SF3B2 causes craniofacial
            microsomia.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3272)
  AUTHORS   Das,B.K., Xia,L., Palandjian,L., Gozani,O., Chyung,Y. and Reed,R.
  TITLE     Characterization of a protein complex containing spliceosomal
            proteins SAPs 49, 130, 145, and 155
  JOURNAL   Mol Cell Biol 19 (10), 6796-6802 (1999)
   PUBMED   10490618
REFERENCE   7  (bases 1 to 3272)
  AUTHORS   Neubauer,G., King,A., Rappsilber,J., Calvio,C., Watson,M., Ajuh,P.,
            Sleeman,J., Lamond,A. and Mann,M.
  TITLE     Mass spectrometry and EST-database searching allows
            characterization of the multi-protein spliceosome complex
  JOURNAL   Nat Genet 20 (1), 46-50 (1998)
   PUBMED   9731529
REFERENCE   8  (bases 1 to 3272)
  AUTHORS   Agell,N., Aligue,R., Alemany,V., Castro,A., Jaime,M., Pujol,M.J.,
            Rius,E., Serratosa,J., Taules,M. and Bachs,O.
  TITLE     New nuclear functions for calmodulin
  JOURNAL   Cell Calcium 23 (2-3), 115-121 (1998)
   PUBMED   9601606
  REMARK    Review article
REFERENCE   9  (bases 1 to 3272)
  AUTHORS   Gozani,O., Feld,R. and Reed,R.
  TITLE     Evidence that sequence-independent binding of highly conserved U2
            snRNP proteins upstream of the branch site is required for assembly
            of spliceosomal complex A
  JOURNAL   Genes Dev 10 (2), 233-243 (1996)
   PUBMED   8566756
REFERENCE   10 (bases 1 to 3272)
  AUTHORS   Champion-Arnaud,P. and Reed,R.
  TITLE     The prespliceosome components SAP 49 and SAP 145 interact in a
            complex implicated in tethering U2 snRNP to the branch site
  JOURNAL   Genes Dev 8 (16), 1974-1983 (1994)
   PUBMED   7958871
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BF311442.1, BC053577.1,
            BC014125.2, BE677116.1 and AP006287.2.
            
            On May 17, 2019 this sequence version replaced NM_006842.2.
            
            Summary: This gene encodes subunit 2 of the splicing factor 3b
            protein complex. Splicing factor 3b, together with splicing factor
            3a and a 12S RNA unit, forms the U2 small nuclear
            ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a
            complex binds pre-mRNA upstream of the intron's branch site in a
            sequence-independent manner and may anchor the U2 snRNP to the
            pre-mRNA. Splicing factor 3b is also a component of the minor
            U12-type spliceosome. Subunit 2 associates with pre-mRNA upstream
            of the branch site at the anchoring site. Subunit 2 also interacts
            directly with subunit 4 of the splicing factor 3b complex. Subunit
            2 is a highly hydrophilic protein with a proline-rich N-terminus
            and a glutamate-rich stretch in the C-terminus. [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 :: SRR7410570.488926.1,
                                           SRR7410570.488925.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000322535.11/ ENSP00000318861.6
            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
            1-14                BF311442.1         21-34
            15-2637             BC053577.1         1-2623
            2638-2856           BC014125.2         1045-1263
            2857-2875           BE677116.1         9-27                c
            2876-3272           AP006287.2         184163-184559
FEATURES             Location/Qualifiers
     source          1..3272
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..3272
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /note="splicing factor 3b subunit 2"
                     /db_xref="GeneID:10992"
                     /db_xref="HGNC:HGNC:10769"
                     /db_xref="MIM:605591"
     exon            1..154
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     CDS             22..2709
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /note="spliceosome associated protein 145; pre-mRNA
                     splicing factor SF3b 145 kDa subunit; SAP 145; splicing
                     factor 3b, subunit 2, 145kD; splicing factor 3b, subunit
                     2, 145kDa"
                     /codon_start=1
                     /product="splicing factor 3B subunit 2"
                     /protein_id="NP_006833.2"
                     /db_xref="CCDS:CCDS31612.1"
                     /db_xref="GeneID:10992"
                     /db_xref="HGNC:HGNC:10769"
                     /db_xref="MIM:605591"
                     /translation="MATEHPEPPKAELQLPPPPPPGHYGAWAAQELQAKLAEIGAPIQ
                     GNREELVERLQSYTRQTGIVLNRPVLRGEDGDKAAPPPMSAQLPGIPMPPPPLGLPPL
                     QPPPPPPPPPPGLGLGFPMAHPPNLGPPPPLRVGEPVALSEEERLKLAQQQAALLMQQ
                     EERAKQQGDHSLKEHELLEQQKRAAVLLEQERQQEIAKMGTPVPRPPQDMGQIGVRTP
                     LGPRVAAPVGPVGPTPTVLPMGAPVPRPRGPPPPPGDENREMDDPSVGPKIPQALEKI
                     LQLKESRQEEMNSQQEEEEMETDARSSLGQSASETEEDTVSVSKKEKNRKRRNRKKKK
                     KPQRVRGVSSESSGDREKDSTRSRGSDSPAADVEIEYVTEEPEIYEPNFIFFKRIFEA
                     FKLTDDVKKEKEKEPEKLDKLENSAAPKKKGFEEEHKDSDDDSSDDEQEKKPEAPKLS
                     KKKLRRMNRFTVAELKQLVARPDVVEMHDVTAQDPKLLVHLKATRNSVPVPRHWCFKR
                     KYLQGKRGIEKPPFELPDFIKRTGIQEMREALQEKEEQKTMKSKMREKVRPKMGKIDI
                     DYQKLHDAFFKWQTKPKLTIHGDLYYEGKEFETRLKEKKPGDLSDELRISLGMPVGPN
                     AHKVPPPWLIAMQRYGPPPSYPNLKIPGLNSPIPESCSFGYHAGGWGKPPVDETGKPL
                     YGDVFGTNAAEFQTKTEEEEIDRTPWGELEPSDEESSEEEEEEESDEDKPDETGFITP
                     ADSGLITPGGFSSVPAGMETPELIELRKKKIEEAMDGSETPQLFTVLPEKRTATVGGA
                     MMGSTHIYDMSTVMSRKGPAPELQGVEVALAPEELELDPMAMTQKYEEHVREQQAQVE
                     KEDFSDMVAEHAAKQKQKKRKAQPQDSRGGSKKYKEFKF"
     exon            155..201
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            202..279
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            280..519
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            520..570
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            571..688
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            689..798
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            799..895
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            896..987
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1203
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1341
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..1422
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            1423..1650
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            1651..1800
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            1801..1890
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            1891..1998
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            1999..2106
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            2107..2249
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            2250..2351
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            2352..2451
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            2452..2637
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     exon            2638..3272
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2834..2839
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /note="hexamer: AATAAA"
     polyA_site      2856
                     /gene="SF3B2"
                     /gene_synonym="CFM; Cus1; HFM; SAP145; SF3b1; SF3B145;
                     SF3b150"
                     /note="major polyA site"
ORIGIN      
        1 gcgcgccttc ctgcggctaa gatggcgacg gagcatcccg agcctcccaa agcagaattg
       61 cagctgccgc cgccgccacc tccaggccac tatggcgcct gggctgccca ggagcttcag
      121 gccaagttgg cagagatcgg agctccgatc cagggtaatc gcgaggagct ggtggagcgg
      181 ctgcagagct acacccgcca gactggcatc gtgctgaatc ggccggtttt gagaggggaa
      241 gatggggaca aagccgctcc acctcccatg tcggcacagc tccctggaat tcccatgcca
      301 ccaccacctt tgggactccc ccctctgcag cctcctccgc cacccccacc acctccacca
      361 ggccttggcc ttggctttcc tatggcccac ccaccaaatt tggggccccc gcctcctctc
      421 cgtgtgggtg agccagtggc actgtcagag gaggagcggc tgaagttggc tcagcagcag
      481 gcggcattgc tgatgcagca ggaggagcgt gccaagcagc agggagatca ttcgctgaag
      541 gaacatgagc tcttggagca gcagaagcgg gcagctgtgt tactggagca ggaacgacag
      601 caggagattg ccaagatggg caccccagtc cctcggcccc cacaagacat gggccagatt
      661 ggtgtgcgca ctcctctggg tcctcgagta gctgctccag tgggcccagt gggccccact
      721 cctacagttt tgcccatggg agcccctgtt ccccggcctc gtggtccccc accgccccct
      781 ggagatgaga acagagagat ggatgacccc tctgtgggcc ccaagatccc ccaggctttg
      841 gagaagatcc tgcagctgaa ggagagccgc caggaagaga tgaattctca gcaggaggaa
      901 gaggaaatgg aaacagatgc tcgctcgtcc ctgggccagt cagcgtcaga gactgaggag
      961 gacacagtgt ccgtatctaa aaaggagaaa aaccggaagc gtaggaaccg aaagaagaag
     1021 aaaaagcccc agcgggtgcg aggggtgtcc tctgagagct ctggggaccg ggagaaagac
     1081 tcaacccggt cccgtggctc tgattcccca gcagctgatg ttgagattga gtatgtgact
     1141 gaagaacctg aaatttacga gcccaacttt atcttcttta agaggatctt tgaggctttt
     1201 aagctcactg atgatgtgaa gaaggagaaa gagaaggagc cagagaaact tgacaaactg
     1261 gagaactctg cagcccccaa gaagaaggga tttgaagagg agcacaagga cagtgatgat
     1321 gacagcagtg atgacgagca ggaaaagaag ccagaagccc ccaagctgtc caagaagaag
     1381 ttgcgccgaa tgaaccgctt cactgtggct gaactcaagc agctggtggc tcggcccgat
     1441 gtcgtggaga tgcacgatgt gacagcgcag gaccctaagc tcttggttca cctcaaggcc
     1501 actcggaact ctgtgcctgt gccacgccac tggtgtttta agcgcaaata cctgcagggc
     1561 aaacggggca ttgagaagcc ccccttcgag ctgccagact tcatcaaacg cacaggcatc
     1621 caggagatgc gagaggccct gcaggagaag gaagaacaga agaccatgaa gtcaaaaatg
     1681 cgagagaaag ttcggcctaa gatgggcaaa attgacatcg actaccagaa actgcatgat
     1741 gccttcttca agtggcagac caagccaaag ctgaccatcc atggggacct gtactatgag
     1801 gggaaggagt tcgagacacg actgaaggag aagaagccag gagatctgtc tgatgagcta
     1861 aggatttcct tggggatgcc agtaggacca aatgcccaca aggtccctcc cccatggctg
     1921 attgccatgc agcgatatgg accaccccca tcgtatccca acctgaaaat ccctgggctg
     1981 aactcgccca tccctgagag ctgttccttt gggtaccatg ctggtggctg gggcaaacct
     2041 ccagtggatg agactgggaa accgctctat ggggacgtgt ttggaaccaa tgctgctgaa
     2101 tttcagacca agactgagga agaagagatt gatcggaccc cttgggggga actggaacca
     2161 tctgatgaag aatcctcaga agaagaggaa gaggaagaaa gtgatgaaga caaaccagat
     2221 gagacaggct ttattacccc tgcagacagt ggccttatca ctcctggagg cttttcatca
     2281 gtgcctgctg gaatggagac ccctgaactc attgagctga ggaagaagaa gattgaggag
     2341 gcgatggacg gaagtgagac acctcagctc ttcactgtgt tgccagagaa gagaacagcc
     2401 actgttggag gggccatgat gggatcaacc cacatttatg acatgtccac ggttatgagc
     2461 cggaagggcc cggctcctga gctgcaaggt gtggaagtgg cgctggcgcc tgaagagttg
     2521 gagctggatc ctatggccat gacccagaag tatgaggagc atgtgcggga gcagcaggct
     2581 caagtagaga aggaggactt cagtgacatg gtggctgagc acgctgccaa acagaagcaa
     2641 aaaaaacgga aagctcagcc ccaggacagc cgtgggggca gcaagaaata taaggagttc
     2701 aagttttagg tcccctcaca ctagcccttt ttttggccct acgtctggat gcctgggctt
     2761 cacacaagaa ccacctctcc cgcagttccc aaggacttgt catttcatgt tcttatttta
     2821 gacctgtttt gtaaataaag ctgtttccca aggaaagaga tgaatattta acactcctga
     2881 gcctccctca tctcctttta gccccttctt gcaaaaggac taaaatagtc tctttctaca
     2941 atcactgggc tgccccagta accacgaaca taaactggga ttagacggcg catttgactg
     3001 gtggtgacgc caaccccagg ctgaaatctg tgtttcacca ctgccctgct ttgtaggaag
     3061 gcttggggga agtacctcta ggtctggttt gaccttacta ctttgtcctt ggggagtaaa
     3121 aatagccaga ttagcgccct agcgcggcag aggaagtaac agtgggcttg ggaagtaggc
     3181 cagggcaggc cttcccaact gaccttgtga ccagaagttc aagtccttac ctgtgcgaca
     3241 acatagctca aaagctaaat tgtcttgagt cc
//
