LOCUS       NM_006268               3714 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens double PHD fingers 2 (DPF2), transcript variant 1,
            mRNA.
ACCESSION   NM_006268
VERSION     NM_006268.5
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 3714)
  AUTHORS   Kolokotronis,K., Suter,A.A., Ivanovski,I., Frey,T., Bahr,A.,
            Rauch,A. and Steindl,K.
  TITLE     DPF2-related Coffin-Siris syndrome type 7 in two generations
  JOURNAL   Eur J Med Genet 69, 104945 (2024)
   PUBMED   38697389
  REMARK    GeneRIF: DPF2-related Coffin-Siris syndrome type 7 in two
            generations.
REFERENCE   2  (bases 1 to 3714)
  AUTHORS   Liu,Z., Liu,L., Sun,R. and Liu,C.
  TITLE     BAF45D knockdown decreases cell viability, inhibits colony
            formation, induces cell apoptosis and S-phase arrest in human
            pancreatic cancer cells
  JOURNAL   Biosci Biotechnol Biochem 84 (6), 1146-1152 (2020)
   PUBMED   32024442
  REMARK    GeneRIF: BAF45D knockdown decreases cell viability, inhibits colony
            formation, induces cell apoptosis and S-phase arrest in human
            pancreatic cancer cells.
REFERENCE   3  (bases 1 to 3714)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3714)
  AUTHORS   Vasileiou,G., Vergarajauregui,S., Endele,S., Popp,B., Buttner,C.,
            Ekici,A.B., Gerard,M., Bramswig,N.C., Albrecht,B.,
            Clayton-Smith,J., Morton,J., Tomkins,S., Low,K., Weber,A.,
            Wenzel,M., Altmuller,J., Li,Y., Wollnik,B., Hoganson,G.,
            Plona,M.R., Cho,M.T., Thiel,C.T., Ludecke,H.J., Strom,T.M.,
            Calpena,E., Wilkie,A.O.M., Wieczorek,D., Engel,F.B. and Reis,A.
  CONSRTM   Deciphering Developmental Disorders Study
  TITLE     Mutations in the BAF-Complex Subunit DPF2 Are Associated with
            Coffin-Siris Syndrome
  JOURNAL   Am J Hum Genet 102 (3), 468-479 (2018)
   PUBMED   29429572
  REMARK    GeneRIF: de novo variants in DPF2 cause Coffin-Siris syndrome and
            propose a dominant-negative mechanism of pathogenicity.
REFERENCE   5  (bases 1 to 3714)
  AUTHORS   Huber,F.M., Greenblatt,S.M., Davenport,A.M., Martinez,C., Xu,Y.,
            Vu,L.P., Nimer,S.D. and Hoelz,A.
  TITLE     Histone-binding of DPF2 mediates its repressive role in myeloid
            differentiation
  JOURNAL   Proc Natl Acad Sci U S A 114 (23), 6016-6021 (2017)
   PUBMED   28533407
  REMARK    GeneRIF: Authors show that DPF2 interacts with the acetylated tails
            of both histones 3 and 4 via bipartite binding pockets on the DPF2
            surface. Blocking these interactions through targeted mutagenesis
            of DPF2 abolishes its recruitment to target chromatin regions as
            well as its ability to prevent myeloid differentiation in vivo.
REFERENCE   6  (bases 1 to 3714)
  AUTHORS   Guru,S.C., Agarwal,S.K., Manickam,P., Olufemi,S.E., Crabtree,J.S.,
            Weisemann,J.M., Kester,M.B., Kim,Y.S., Wang,Y., Emmert-Buck,M.R.,
            Liotta,L.A., Spiegel,A.M., Boguski,M.S., Roe,B.A., Collins,F.S.,
            Marx,S.J., Burns,L. and Chandrasekharappa,S.C.
  TITLE     A transcript map for the 2.8-Mb region containing the multiple
            endocrine neoplasia type 1 locus
  JOURNAL   Genome Res 7 (7), 725-735 (1997)
   PUBMED   9253601
REFERENCE   7  (bases 1 to 3714)
  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
REFERENCE   8  (bases 1 to 3714)
  AUTHORS   Chestkov,A.V., Baka,I.D., Kost,M.V., Georgiev,G.P. and Buchman,V.L.
  TITLE     The d4 gene family in the human genome
  JOURNAL   Genomics 36 (1), 174-177 (1996)
   PUBMED   8812431
REFERENCE   9  (bases 1 to 3714)
  AUTHORS   Gabig,T.G., Mantel,P.L., Rosli,R. and Crean,C.D.
  TITLE     Requiem: a novel zinc finger gene essential for apoptosis in
            myeloid cells
  JOURNAL   J Biol Chem 269 (47), 29515-29519 (1994)
   PUBMED   7961935
REFERENCE   10 (bases 1 to 3714)
  AUTHORS   Schrier Vergano,S., Santen,G., Wieczorek,D., Wollnik,B.,
            Matsumoto,N. and Deardorff,M.A.
  TITLE     Coffin-Siris Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23556151
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK313408.1, BC014889.2 and
            AP000944.4.
            
            On Nov 23, 2018 this sequence version replaced NM_006268.4.
            
            Summary: The protein encoded by this gene is a member of the d4
            domain family, characterized by a zinc finger-like structural
            motif. This protein functions as a transcription factor which is
            necessary for the apoptotic response following deprivation of
            survival factors. It likely serves a regulatory role in rapid
            hematopoietic cell growth and turnover. This gene is considered a
            candidate gene for multiple endocrine neoplasia type I, an
            inherited cancer syndrome involving multiple parathyroid,
            enteropancreatic, and pituitary tumors. [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 :: SRR1660805.205101.1,
                                           SRR1803616.78227.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000528416.6/ ENSP00000436901.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-24                AK313408.1         13-36
            25-2432             BC014889.2         1-2408
            2433-3714           AP000944.4         93829-95110
FEATURES             Location/Qualifiers
     source          1..3714
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..3714
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /note="double PHD fingers 2"
                     /db_xref="GeneID:5977"
                     /db_xref="HGNC:HGNC:9964"
                     /db_xref="MIM:601671"
     exon            1..67
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..1211
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /note="isoform 1 is encoded by transcript variant 1;
                     apoptosis response zinc finger protein; D4, zinc and
                     double PHD fingers family 2; requiem, apoptosis response
                     zinc finger; zinc finger protein ubi-d4; BAF45D;
                     BRG1-associated factor 45D; protein requiem"
                     /codon_start=1
                     /product="zinc finger protein ubi-d4 isoform 1"
                     /protein_id="NP_006259.1"
                     /db_xref="CCDS:CCDS8100.1"
                     /db_xref="GeneID:5977"
                     /db_xref="HGNC:HGNC:9964"
                     /db_xref="MIM:601671"
                     /translation="MAAVVENVVKLLGEQYYKDAMEQCHNYNARLCAERSVRLPFLDS
                     QTGVAQSNCYIWMEKRHRGPGLASGQLYSYPARRWRKKRRAHPPEDPRLSFPSIKPDT
                     DQTLKKEGLISQDGSSLEALLRTDPLEKRGAPDPRVDDDSLGEFPVTNSRARKRILEP
                     DDFLDDLDDEDYEEDTPKRRGKGKSKGKGVGSARKKLDASILEDRDKPYACDICGKRY
                     KNRPGLSYHYAHSHLAEEEGEDKEDSQPPTPVSQRSEEQKSKKGPDGLALPNNYCDFC
                     LGDSKINKKTGQPEELVSCSDCGRSGHPSCLQFTPVMMAAVKTYRWQCIECKCCNICG
                     TSENDDQLLFCDDCDRGYHMYCLTPSMSEPPEGSWSCHLCLDLLKEKASIYQNQNSS"
     exon            68..228
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /inference="alignment:Splign:2.1.0"
     exon            229..336
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /inference="alignment:Splign:2.1.0"
     exon            337..500
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /inference="alignment:Splign:2.1.0"
     exon            501..593
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /inference="alignment:Splign:2.1.0"
     exon            594..672
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /inference="alignment:Splign:2.1.0"
     exon            673..810
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /inference="alignment:Splign:2.1.0"
     exon            811..939
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /inference="alignment:Splign:2.1.0"
     exon            940..1052
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1134
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /inference="alignment:Splign:2.1.0"
     exon            1135..3714
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2413..2418
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /note="hexamer: AATAAA"
     polyA_site      2432
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /note="major polyA site"
     regulatory      3692..3697
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
                     /note="hexamer: AATAAA"
     polyA_site      3714
                     /gene="DPF2"
                     /gene_synonym="CSS7; REQ; SMARCG2; ubi-d4; UBID4"
ORIGIN      
        1 ggggcttctc ggcccgaggc agaggaacag ggaagatggc ggctgtggtg gagaatgtag
       61 tgaagctcct tggggagcag tactacaaag atgccatgga gcagtgccac aattacaatg
      121 ctcgcctctg tgctgagcgc agcgtgcgcc tgcctttctt ggactcacag accggagtag
      181 cccagagcaa ttgttacatc tggatggaaa agcgacaccg gggtccagga ttggcctccg
      241 gacagctgta ctcctaccct gcccggcgct ggcggaaaaa gcggcgagcc catccccctg
      301 aggatccacg actttccttc ccatctatta agccagacac agaccagacc ctgaagaagg
      361 aggggctgat ctctcaggat ggcagtagtt tagaggctct gttgcgcact gaccccctgg
      421 agaagcgagg tgccccggat ccccgagttg atgatgacag cctgggcgag tttcctgtga
      481 ccaacagtcg agcgcgaaag cggatcctag aaccagatga cttcctggat gacctcgatg
      541 atgaagacta tgaagaagat actcccaagc gtcggggaaa ggggaaatcc aagggtaagg
      601 gtgtgggcag tgcccgtaag aagctggatg cttccatcct ggaggaccgg gataagccct
      661 atgcctgtga catttgtgga aaacgttaca agaaccgacc aggcctcagt taccactatg
      721 cccactccca cttggctgag gaggagggcg aggacaagga agactctcaa ccacccactc
      781 ctgtttccca gaggtctgag gagcagaaat ccaaaaaggg tcctgatgga ttggccttgc
      841 ccaacaacta ctgtgacttc tgcctggggg actcaaagat taacaagaag acgggacaac
      901 ccgaggagct ggtgtcctgt tctgactgtg gccgctcagg gcatccatct tgcctccaat
      961 ttacccccgt gatgatggcg gcagtgaaga cataccgctg gcagtgcatc gagtgcaaat
     1021 gttgcaatat ctgcggcacc tccgagaatg acgaccagtt gctcttctgt gatgactgcg
     1081 atcgtggcta ccacatgtac tgtctcaccc cgtccatgtc tgagccccct gaaggaagtt
     1141 ggagctgcca cctgtgtctg gacctgttga aagagaaagc ttccatctac cagaaccaga
     1201 actcctcttg atgtggccac ccacctgctc cccgacatat ctaaggctgt ttctctcctc
     1261 cacttcatat ttcataccca tctttccctt cttcctcctc tccttcacaa atccagagaa
     1321 ccttggggtg gttgtgccag cctgcctttg gcagctgcaa gctgaggtgg cagctctgac
     1381 cacctctggc cccaggccct cagggagaaa ggagcaacac actgccccta ggcgtgcgtg
     1441 tggcccagtt tctctctgct ctccattaag tgcattcact ctgcttgcct tgggcccagc
     1501 ccctggtgat cacagggttc aaacagtgtc ctcctagaaa gagtgggaga gcagctcact
     1561 tctctgtgtt ctgcctcccc tctggtctcc agagttttcc tgtcctctag aggcaagcca
     1621 ggccagggag ctgggagcga gcaagctgag gccacgtcca caaggagctt ttcatgcccc
     1681 tgtgccgcat agcctcacct ctttcctcca gagtggctct ctgcggccct gtgttcctgc
     1741 tacagagtgt tcttttctgg agtcaggatg ttctcggtca ccctcctggt tctgccctgt
     1801 cccattccac cccaccccag ggggaacagt agcttcacct tgttattccc attgctctcc
     1861 tggctcactc ttacggtcgg tctccagtga ctgaagcatt ccccaccctt ggaatttctc
     1921 atcttctgcc tcccttccta ctccttttgg ttttgtgggg agaggggaag gatcaggggg
     1981 ccaggccagc agctcggggg ccacaaggag atggataatg tgcctgtttt ttaacacaac
     2041 aaaaaagcct acctccaaaa tccccttttt gttcttcctg gacctgggca ttcagcctcc
     2101 tgctcttaac tgaattggga gcctctgcca cctgccccgt gtatcctggc tctcagctca
     2161 tggggaagcc acatagacat ccctttcttc ccttgcacgc tcgctagcag ctggtaaggt
     2221 cttcacaccc tgattcctca agttttctgc ttagtggcac tgacattaag tagtgggggg
     2281 acagtccatg ccaggacacc ctggagtagc cttccccctt ggccgtgggc aggccctaac
     2341 tcactgtcgc tttggagttg aggtgtcttt tttttttctt tctttagttc ctgtattcta
     2401 aacattagta aaaataaatg tttttacaca gagccctctg ctggatggtt tatctcctgc
     2461 ctttctccat taagaaggcc atttcatcct aagatttcca tgatggtggt tttttttttt
     2521 aatgttttga aatacagctt ttttcccccc aaattaaaat ttttttgtgg aaccccaata
     2581 tgtaaagcga atataaaatt ggttattttg ttttgttaca taaattcaag tttataacaa
     2641 ttctttgtta taaagaacaa tgaagctgtt ttgatcaata caaaatttgg gttaaaatca
     2701 actttaacat ctatttttat gtttcagttg atttggagaa ttctcctagt cttggataca
     2761 tagatggaag tgatgacagg tttataacag ttgaccttgc aatctcagac atttaaaaca
     2821 ggaccagaag tttatataaa tataattaat aagcaaacta atgacatcac catgggacac
     2881 acacaaaagt tcttgcagga gcagggtctg tgtggcttca gttgcctgca gcgctcccag
     2941 gccagagcaa gtgctctagg atctgaactg cccgcagtgc agccctgcag cctttcccag
     3001 ggcacgttga tgtgcacaca gtttccctga aggcaaagtg aacatgtgga gagcttacgt
     3061 ggcagcgcgt atgtcttcag tgtgtgtttt agaagtccaa ctgttgtttt tatgttttta
     3121 aaggaaagat ttgaatcaag cagttatggg ccccctgaag tatccttttt tctagaacat
     3181 tctgaaagtc atccttgcct atgggaagcc taggccggcc tgcactgtta tgttcaataa
     3241 ataagcaggg tgctctgggc tggggattgt gtgaggagca gagcgcagcc cgtcctcatg
     3301 cttttccact gaagtaggcc aggcagagag ggagtacagc aatggatgcg ctttggcagc
     3361 tgagtagtcc gagagccaga aaagaaatgt ggaaaataag aacgctgtag caggcctagg
     3421 tgaggaaatt taggaagggt ttgcgggagg taggatttga gatgggtctt ggagagttgg
     3481 acagtgtcag ccggtaggac gggggtgcgg acggaagcct gtgaggaagg cagaggatgc
     3541 ggagctgtga gcggagggag cagcgaggct ggagagcagc tgggctgcgg gtcaagacgt
     3601 ctgcgtttaa ttcgggactg aaggttagca gggaagggaa cgatgccaga tcttgagttt
     3661 aagaacttga atcttgtaaa gtaccaaatc taataaaata ctcgtcctaa atca
//
