LOCUS       NM_001098426            2464 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens SWI/SNF related BAF chromatin remodeling complex
            subunit D2 (SMARCD2), transcript variant 1, mRNA.
ACCESSION   NM_001098426
VERSION     NM_001098426.2
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 2464)
  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   2  (bases 1 to 2464)
  AUTHORS   Kim,M., Park,J., Bouhaddou,M., Kim,K., Rojc,A., Modak,M.,
            Soucheray,M., McGregor,M.J., O'Leary,P., Wolf,D., Stevenson,E.,
            Foo,T.K., Mitchell,D., Herrington,K.A., Munoz,D.P., Tutuncuoglu,B.,
            Chen,K.H., Zheng,F., Kreisberg,J.F., Diolaiti,M.E., Gordan,J.D.,
            Coppe,J.P., Swaney,D.L., Xia,B., van 't Veer,L., Ashworth,A.,
            Ideker,T. and Krogan,N.J.
  TITLE     A protein interaction landscape of breast cancer
  JOURNAL   Science 374 (6563), eabf3066 (2021)
   PUBMED   34591612
REFERENCE   3  (bases 1 to 2464)
  AUTHORS   Schim van der Loeff,I., Sprenkeler,E.G.G., Tool,A.T.J., Abinun,M.,
            Grainger,A., Engelhardt,K.R., van Houdt,M., Janssen,H.,
            Kuijpers,T.W. and Hambleton,S.
  TITLE     Defective neutrophil development and specific granule deficiency
            caused by a homozygous splice-site mutation in SMARCD2
  JOURNAL   J Allergy Clin Immunol 147 (6), 2381-2385 (2021)
   PUBMED   33279574
  REMARK    GeneRIF: Defective neutrophil development and specific granule
            deficiency caused by a homozygous splice-site mutation in SMARCD2.
REFERENCE   4  (bases 1 to 2464)
  AUTHORS   Yucel,E., Karakus,I.S., Krolo,A., Kiykim,A., Heredia,R.J.,
            Tamay,Z., Cipe,F.E., Karakoc-Aydiner,E., Ozen,A., Karaman,S.,
            Boztug,K. and Baris,S.
  TITLE     Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in
            SMARCD2 Encoding a Chromatin Remodeling Factor Mediates
            Granulopoiesis
  JOURNAL   J Clin Immunol 41 (1), 59-65 (2021)
   PUBMED   33025377
  REMARK    GeneRIF: Novel Frameshift Autosomal Recessive Loss-of-Function
            Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates
            Granulopoiesis.
            Review article
REFERENCE   5  (bases 1 to 2464)
  AUTHORS   Fasci,D., van Ingen,H., Scheltema,R.A. and Heck,A.J.R.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   6  (bases 1 to 2464)
  AUTHORS   Phelan,M.L., Sif,S., Narlikar,G.J. and Kingston,R.E.
  TITLE     Reconstitution of a core chromatin remodeling complex from SWI/SNF
            subunits
  JOURNAL   Mol Cell 3 (2), 247-253 (1999)
   PUBMED   10078207
REFERENCE   7  (bases 1 to 2464)
  AUTHORS   Ring,H.Z., Vameghi-Meyers,V., Wang,W., Crabtree,G.R. and Francke,U.
  TITLE     Five SWI/SNF-related, matrix-associated, actin-dependent regulator
            of chromatin (SMARC) genes are dispersed in the human genome
  JOURNAL   Genomics 51 (1), 140-143 (1998)
   PUBMED   9693044
REFERENCE   8  (bases 1 to 2464)
  AUTHORS   Reyes,J.C., Muchardt,C. and Yaniv,M.
  TITLE     Components of the human SWI/SNF complex are enriched in active
            chromatin and are associated with the nuclear matrix
  JOURNAL   J Cell Biol 137 (2), 263-274 (1997)
   PUBMED   9128241
REFERENCE   9  (bases 1 to 2464)
  AUTHORS   Wang,W., Cote,J., Xue,Y., Zhou,S., Khavari,P.A., Biggar,S.R.,
            Muchardt,C., Kalpana,G.V., Goff,S.P., Yaniv,M., Workman,J.L. and
            Crabtree,G.R.
  TITLE     Purification and biochemical heterogeneity of the mammalian SWI-SNF
            complex
  JOURNAL   EMBO J 15 (19), 5370-5382 (1996)
   PUBMED   8895581
REFERENCE   10 (bases 1 to 2464)
  AUTHORS   Wang,W., Xue,Y., Zhou,S., Kuo,A., Cairns,B.R. and Crabtree,G.R.
  TITLE     Diversity and specialization of mammalian SWI/SNF complexes
  JOURNAL   Genes Dev 10 (17), 2117-2130 (1996)
   PUBMED   8804307
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC015651.18.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001098426.1.
            
            Summary: The protein encoded by this gene is a member of the
            SWI/SNF family of proteins, whose members display helicase and
            ATPase activities and which are thought to regulate transcription
            of certain genes by altering the chromatin structure around those
            genes. The encoded protein is part of the large ATP-dependent
            chromatin remodeling complex SNF/SWI and has sequence similarity to
            the yeast Swp73 protein. Alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [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 :: BC142963.1, SRR14038196.157195.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000448276.7/ ENSP00000392617.2
            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
            1-227               AC015651.18        31485-31711
            228-412             AC015651.18        36545-36729
            413-455             AC015651.18        36933-36975
            456-578             AC015651.18        37126-37248
            579-734             AC015651.18        38603-38758
            735-830             AC015651.18        39370-39465
            831-932             AC015651.18        39595-39696
            933-1094            AC015651.18        39842-40003
            1095-1192           AC015651.18        40164-40261
            1193-1328           AC015651.18        40448-40583
            1329-1451           AC015651.18        40750-40872
            1452-1553           AC015651.18        41000-41101
            1554-2464           AC015651.18        41179-42089
FEATURES             Location/Qualifiers
     source          1..2464
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q23.3"
     gene            1..2464
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /note="SWI/SNF related BAF chromatin remodeling complex
                     subunit D2"
                     /db_xref="GeneID:6603"
                     /db_xref="HGNC:HGNC:11107"
                     /db_xref="MIM:601736"
     exon            1..227
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..1607
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mammalian chromatin remodeling complex BRG1-associated
                     factor 60B; Swp73-like protein; chromatin remodeling
                     complex BAF60B subunit; SWI/SNF complex 60 kDa subunit B;
                     SWI/SNF related, matrix associated, actin dependent
                     regulator of chromatin, subfamily d, member 2;
                     SWI/SNF-related matrix-associated actin-dependent
                     regulator of chromatin subfamily D member 2; 60 kDa
                     BRG-1/Brm-associated factor subunit B"
                     /codon_start=1
                     /product="SWI/SNF-related matrix-associated
                     actin-dependent regulator of chromatin subfamily D member
                     2 isoform 1"
                     /protein_id="NP_001091896.1"
                     /db_xref="CCDS:CCDS45756.1"
                     /db_xref="GeneID:6603"
                     /db_xref="HGNC:HGNC:11107"
                     /db_xref="MIM:601736"
                     /translation="MSGRGAGGFPLPPLSPGGGAVAAALGAPPPPAGPGMLPGPALRG
                     PGPAGGVGGPGAAAFRPMGPAGPAAQYQRPGMSPGNRMPMAGLQVGPPAGSPFGAAAP
                     LRPGMPPTMMDPFRKRLLVPQAQPPMPAQRRGLKRRKMADKVLPQRIRELVPESQAYM
                     DLLAFERKLDQTIARKRMEIQEAIKKPLTQKRKLRIYISNTFSPSKAEGDSAGTAGTP
                     GGTPAGDKVASWELRVEGKLLDDPSKQKRKFSSFFKSLVIELDKELYGPDNHLVEWHR
                     MPTTQETDGFQVKRPGDLNVKCTLLLMLDHQPPQYKLDPRLARLLGVHTQTRAAIMQA
                     LWLYIKHNQLQDGHEREYINCNRYFRQIFSCGRLRFSEIPMKLAGLLQHPDPIVINHV
                     ISVDPNDQKKTACYDIDVEVDDPLKAQMSNFLASTTNQQEIASLDVKIHETIESINQL
                     KTQRDFMLSFSTDPQDFIQEWLRSQRRDLKIITDVIGNPEEERRAAFYHQPWAQEAVG
                     RHIFAKVQQRRQELEQVLGIRLT"
     exon            228..412
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     exon            413..455
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     exon            456..578
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     exon            579..734
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     exon            735..830
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     exon            831..932
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     exon            933..1094
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1192
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1193..1328
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1329..1451
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..1553
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     exon            1554..2464
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2444..2449
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /note="hexamer: AATAAA"
     polyA_site      2464
                     /gene="SMARCD2"
                     /gene_synonym="BAF60B; CRACD2; PRO2451; Rsc6p; SGD2"
                     /note="major polyA site"
ORIGIN      
        1 gggacggagc gatgtcgggc cgaggcgcgg gcgggttccc gctgcccccg ctaagccctg
       61 gcggcggcgc cgtggctgcg gccctgggag cgccgcctcc ccccgcggga cccggcatgc
      121 tgcccggacc ggcgctccgg ggaccgggtc cggcaggagg cgtggggggc cccggggccg
      181 ccgccttccg ccccatgggc cccgcgggcc ccgcggcgca gtaccagcga cctggcatgt
      241 caccagggaa ccggatgccc atggctggct tgcaggtggg accccctgct ggctccccat
      301 ttggtgcagc agctccgctt cgacctggca tgccacccac catgatggat ccattccgaa
      361 aacgcctgct tgtgccccag gcgcagcctc ccatgcctgc ccagcgccgg gggttaaaga
      421 ggaggaagat ggcagataag gttctacctc agcgaatccg ggagcttgtt ccagagtctc
      481 aggcgtacat ggatctcttg gcttttgagc ggaagctgga ccagaccatt gctcgcaagc
      541 ggatggagat ccaggaggcc atcaaaaagc ctctgacaca aaagcgaaag cttcggatct
      601 acatttccaa tacgttcagt cccagcaagg cggaaggcga tagtgcagga actgcaggga
      661 cccctggggg aaccccagca ggggacaagg tggcttcctg ggaactccga gtggaaggaa
      721 aactgctgga tgatcctagc aaacagaaga ggaagttttc ttcattcttt aagagcctcg
      781 tcattgagct ggacaaggag ctgtacgggc ctgacaatca cctggtggag tggcaccgga
      841 tgcccaccac ccaggagaca gatggcttcc aagtaaaacg gcctggagac ctcaacgtca
      901 agtgcaccct cctgctcatg ctggatcatc agcctcccca gtacaaattg gacccccgat
      961 tggcaaggct gctgggagtg cacacgcaga cgagggccgc catcatgcag gccctgtggc
     1021 tttacatcaa gcacaaccag ctgcaggatg ggcacgagcg ggagtacatc aactgcaacc
     1081 gttacttccg ccagatcttc agttgtggcc gactccgttt ctccgagatt cccatgaagc
     1141 tggcagggtt gctgcagcat ccagacccca ttgtcatcaa ccatgtcatt agtgtcgacc
     1201 ctaacgacca gaagaagaca gcctgttacg acatcgatgt ggaggtggac gacccactga
     1261 aggcccaaat gagcaatttt ctggcctcta ccaccaatca gcaggagatc gcctcccttg
     1321 atgtcaagat ccatgagacc attgagtcca tcaaccagct gaagacccag agagatttca
     1381 tgctcagttt tagcaccgac ccccaggact tcatccagga atggctccgt tcccagcgcc
     1441 gagacctcaa gatcatcact gatgtgattg gaaatcctga ggaggagaga cgagctgctt
     1501 tctaccacca gccctgggcc caggaagcag taggcaggca catctttgcc aaggtgcagc
     1561 agcgaaggca ggaactggaa caggtgctgg gaattcgcct gacctaactg ctcagggatc
     1621 tttcttccca gccctggagc ctggagggag accaccctct gggtccttgc tggggccgca
     1681 gacacgtagg ctggggtgag gagtgtctgc tgtcaccctc tactctccag ctttagtctt
     1741 ataaatgtag tgataggatt ccttgttgct tggtccccaa agccttatac tttttgcatt
     1801 ggctttaatt gggttcagca gatgcctcct ctgcccccct gcaggcaggc ccaagtagga
     1861 ctgctggagg ctgtgctttg acattgtaag acatttccga accaaaggct gctgggtttg
     1921 catgtttaca gactccccct ggggcgaggg tcagagctgg ctctggggag ctgggctagg
     1981 aagaggaggt gcagcccaga ctcttcctag cctttctaaa ccaaagttct ttgccattcc
     2041 tacaagccca gccttgctgc tggttttttc ctttcctttg ggtatttgca ctattttggg
     2101 agcaagtttt ctatgtggga gccacttttt ttgtacaggg gtaagttggg ggttttcagg
     2161 gagcctgtta ggtgcctcct tcttttcttt cctcaatcta tgcaagcggc tctggccgcc
     2221 atcatctcct gggatgccag agggctgcct ctccagcggc ttgggccggg gaggggacac
     2281 tccagttctc tagcatggcc tgaggtatgg ggtatgtgca tgtggaggcc agggtaaggt
     2341 gaatggggag gctgggagga ctggtgttgc cctttggagc ttggtgagga gggtgggcct
     2401 agggcttggc gagtgccaca tctggcaggt ttggaaattt ccaaataaat ccttttgtct
     2461 attg
//
