LOCUS       NM_145166               5494 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens zinc finger and BTB domain containing 47 (ZBTB47),
            transcript variant 2, mRNA.
ACCESSION   NM_145166
VERSION     NM_145166.4
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 5494)
  AUTHORS   Ward,S.K., Wadley,A., Tsai,C.A., Benke,P.J., Emrick,L., Fisher,K.,
            Houck,K.M., Dai,H., Guillen Sacoto,M.J., Craigen,W., Glaser,K.,
            Murdock,D.R., Rohena,L., Diderich,K.E.M., Bruggenwirth,H.T.,
            Lee,B., Bacino,C., Burrage,L.C. and Rosenfeld,J.A.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     De novo missense variants in ZBTB47 are associated with
            developmental delays, hypotonia, seizures, gait abnormalities, and
            variable movement abnormalities
  JOURNAL   Am J Med Genet A 194 (1), 17-30 (2024)
   PUBMED   37743782
  REMARK    GeneRIF: De novo missense variants in ZBTB47 are associated with
            developmental delays, hypotonia, seizures, gait abnormalities, and
            variable movement abnormalities.
            Erratum:[Am J Med Genet A. 2024 Jun;194(6):e63558. doi:
            10.1002/ajmg.a.63558.. PMID: 38327012]
REFERENCE   2  (bases 1 to 5494)
  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   3  (bases 1 to 5494)
  AUTHORS   Kumar,R., Cheney,K.M., Neilsen,P.M., Schulz,R.B. and Callen,D.F.
  TITLE     CBFA2T3-ZNF651, like CBFA2T3-ZNF652, functions as a transcriptional
            corepressor complex
  JOURNAL   FEBS Lett 584 (5), 859-864 (2010)
   PUBMED   20116376
  REMARK    GeneRIF: Data show that ZNF651 is a ZNF652 paralogue that shares a
            common DNA binding sequence with ZNF652 and represses target gene
            expression through the formation of a CBFA2T3-ZNF651 corepressor
            complex.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC006059.3, AK127065.1, AB033016.1 and BF509106.1.
            
            On Nov 23, 2018 this sequence version replaced NM_145166.3.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968540,
                              SAMEA1968832 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000232974.11/ ENSP00000232974.6
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-187               AC006059.3         114591-114777       c
            188-1561            AC006059.3         108826-110199       c
            1562-4065           AK127065.1         1269-3772
            4066-4460           AB033016.1         2081-2475
            4461-5147           AB033016.1         2477-3163
            5148-5494           BF509106.1         18-364              c
FEATURES             Location/Qualifiers
     source          1..5494
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     gene            1..5494
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /note="zinc finger and BTB domain containing 47"
                     /db_xref="GeneID:92999"
                     /db_xref="HGNC:HGNC:26955"
                     /db_xref="MIM:619969"
     exon            1..187
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /inference="alignment:Splign:2.1.0"
     exon            188..1741
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /inference="alignment:Splign:2.1.0"
     CDS             269..2512
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /note="isoform 2 is encoded by transcript variant 2; zinc
                     finger protein 651; zinc finger and BTB domain-containing
                     protein 47"
                     /codon_start=1
                     /product="zinc finger and BTB domain-containing protein 47
                     isoform 2"
                     /protein_id="NP_660149.2"
                     /db_xref="CCDS:CCDS46805.2"
                     /db_xref="GeneID:92999"
                     /db_xref="HGNC:HGNC:26955"
                     /db_xref="MIM:619969"
                     /translation="MGRLNEQRLFQPDLCDVDLVLVPQRSVFPAHKGVLAAYSQFFHS
                     LFTQNKQLQRVELSLEALAPGGLQQILNFIYTSKLLVNAANVHEVLSAASLLQMADIA
                     ASCQELLDARSLGPPGPGTVALAQPAASCTPAAPPYYCDIKQEADTPGLPKIYAREGP
                     DPYSVRVEDGAGTAGGTVPATIGPAQPFFKEEKEGGVEEAGGPPASLCKLEGGEELEE
                     ELGGSGTYSRREQSQIIVEVNLNNQTLHVSTGPEGKPGAGPSPATVVLGREDGLQRHS
                     DEEEEDDEEEEEEEEEEEGGGSGREEEEEEEGGSQGEEEEEEEDGHSEQEEEEEEEEE
                     EGPSEQDQESSEEEEGEEGEAGGKQGPRGSRSSRADPPPHSHMATRSRENARRRGTPE
                     PEEAGRRGGKRPKPPPGVASASARGPPATDGLGAKVKLEEKQHHPCQKCPRVFNNRWY
                     LEKHMNVTHSRMQICDQCGKRFLLESELLLHRQTDCERNIQCVTCGKAFKKLWSLHEH
                     NKIVHGYAEKKFSCEICEKKFYTMAHVRKHMVAHTKDMPFTCETCGKSFKRSMSLKVH
                     SLQHSGEKPFRCENCNERFQYKYQLRSHMSIHIGHKQFMCQWCGKDFNMKQYFDEHMK
                     THTGEKPYICEICGKSFTSRPNMKRHRRTHTGEKPYPCDVCGQRFRFSNMLKAHKEKC
                     FRVSHTLAGDGVPAAPGLPPTQPQAHALPLLPGLPQTLPPPPHLPPPPPLFPTTASPG
                     GRMNANN"
     exon            1742..1889
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /inference="alignment:Splign:2.1.0"
     exon            1890..2005
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /inference="alignment:Splign:2.1.0"
     exon            2006..2150
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /inference="alignment:Splign:2.1.0"
     exon            2151..5494
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4042..4047
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /note="hexamer: AATAAA"
     polyA_site      4066
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /note="major polyA site"
     regulatory      5473..5478
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /note="hexamer: AATAAA"
     polyA_site      5494
                     /gene="ZBTB47"
                     /gene_synonym="ZNF651"
                     /note="major polyA site"
ORIGIN      
        1 actcagcagt ggtcaggtca cacggctaga ggggcacagt ggggcctggg cctctggtcc
       61 ctactcctct ggtccctctg tctcctggcc ctgggccagt caccttagat gatttgatcg
      121 ctgcggttgt agtcctggga tttaaatctc ctgccctggg tggccctatg cagcatgagg
      181 ccgccagttg ctggttgaga agacaactga ctccccggcg gctgagttct cgctggtgga
      241 ggacgtggcg ctgcactttg cctgcttgat gggccgcctg aacgagcagc gcctcttcca
      301 gcctgacctc tgcgacgtgg acttggtgct ggtgccccag cgcagcgtct ttccggcaca
      361 caagggtgtg ctagccgcct acagccagtt cttccactca ctcttcaccc agaacaagca
      421 gctgcagcgt gtggagctgt ccctggaggc actggcacct ggtggcctgc agcagatcct
      481 caacttcatc tatacgtcca agctgctggt caacgcggcc aacgtccacg aggtgctcag
      541 cgccgcctca ttgctgcaga tggctgacat cgctgcgtcc tgccaagagc tgctggacgc
      601 ccgctctcta ggcccaccag gtccgggcac tgtggccctg gcccagccgg ctgccagctg
      661 cactccagct gcgccgccct actactgtga catcaagcag gaggccgaca ccccaggcct
      721 gcccaagatc tatgcccgcg agggccctga cccttactcg gtgcgtgttg aggacggggc
      781 agggactgct ggtggcacag tgcctgccac cattgggcca gcccagccct tctttaagga
      841 ggagaaggag ggtggtgtcg aggaggccgg tgggccccca gccagcttgt gcaagctgga
      901 gggtggagaa gagttggagg aagagcttgg gggttctggc acctacagcc gcagggagca
      961 atcccagatc atcgtggagg tgaacctcaa caaccagaca ctgcacgtgt ccacggggcc
     1021 agaggggaag ccaggtgccg ggccaagccc agccaccgtg gttctgggcc gggaggacgg
     1081 gctgcagaga cactcggacg aggaggagga ggacgacgag gaggaggagg aggaagaaga
     1141 ggaagaggaa ggtggtggca gtggacggga ggaggaggag gaggaagagg gtggcagtca
     1201 gggagaagag gaagaagagg aggaggacgg gcacagtgag caggaagagg aagaggagga
     1261 ggaagaggag gaagggccta gtgagcagga tcaagagagc tctgaggagg aggaggggga
     1321 ggagggggag gctgggggca agcaggggcc acggggaagc cgaagcagcc gggcagaccc
     1381 ccctccccac agtcacatgg ccacacggtc ccgggagaac gcccggcgcc ggggtacccc
     1441 tgaacctgaa gaagctgggc ggcggggtgg gaagaggcca aagccacccc ctggagtggc
     1501 ctctgcatcg gcccgagggc cgccagccac tgatgggctg ggggccaagg tgaagctgga
     1561 ggagaagcag caccatccat gccagaagtg cccacgagtt ttcaacaacc gctggtacct
     1621 ggagaaacac atgaatgtga cccacagccg catgcagatc tgcgaccagt gcggcaagcg
     1681 cttcctgctg gagagcgagc tgctgctgca caggcagaca gactgcgagc gcaacatcca
     1741 gtgtgtgaca tgtggcaaag ctttcaagaa gctttggtcc ctccatgagc ataacaagat
     1801 tgtgcacggc tacgcagaga agaagttctc atgcgagatc tgtgagaaga agttctacac
     1861 catggcccac gtgcgtaagc acatggttgc ccacaccaag gacatgccct tcacctgcga
     1921 gacctgcgga aagtccttca agcgcagcat gtccctcaag gtgcactcac tgcagcactc
     1981 aggggagaag ccgttcagat gtgagaactg caatgagcgc ttccagtaca agtaccagct
     2041 gcggtcacac atgagcatcc acattggcca caagcagttc atgtgccaat ggtgcggcaa
     2101 ggacttcaac atgaagcagt acttcgatga gcacatgaag acccacacag gagagaagcc
     2161 gtacatctgc gagatctgtg gcaagagctt caccagccgg cccaacatga agcggcaccg
     2221 gcgcacgcac acgggcgaga agccgtaccc gtgcgacgtg tgtggccagc gcttccgctt
     2281 ctccaacatg ctcaaggccc acaaggagaa gtgcttccgc gtcagccaca ccctggccgg
     2341 cgacggcgtc cccgctgccc caggcctgcc cccaacccag ccccaggcgc acgcactgcc
     2401 cctgctcccg gggctgcccc agaccctgcc gcccccgccc cacctgccgc ccccgcctcc
     2461 gctcttcccc accactgcca gccccggcgg gaggatgaac gccaacaact agctgccgag
     2521 ctgcacccgt gcacccgctg gggcctggag tcagggccca ctccaggagg gacccactgc
     2581 cttcccgggg agcacagtag tgcgggcctg ggccctgctc cacctccaga agtggctgga
     2641 tgtaccctgc ctgaggcccc gacgaggagg ggtatgcagg ctggcaggcc ccagagctgg
     2701 tggagggcat ctcactccca agtgcccccc ctttctgtga ctccttgaag cctttacttt
     2761 tttttttttt tggaagtgaa ggaaaaagaa actatttaca gcactcccct ccaggtgagg
     2821 ggggtgctgg gggtctgcag cagaaagaaa ggggcctggg cagcaggtgt ggccagtccc
     2881 tctgccaagg cctgtgccag aggggttggc cagttggagc ctgggtcagc ctcagcagcc
     2941 tatccccatg tcctctatgc ccctaatttg cttcctcatc ttggagggtt tggggagaag
     3001 ttggcgtgcc acccccacaa cccctgagga ggtgtagacc cagtctgaga gccgcaagca
     3061 ctgaggcagg gcctgagact ggacctgggt gagcgtgggg ggtggagggt ggcgaggtgc
     3121 ggagactgca gaccagtgct tcactgtgtg gagtggggca ggcaggggct ggaccccagg
     3181 gacttgcctt ccccacccac tctgctgcca gcaggcccag ggatccctga cctgcaccag
     3241 gtggcaccaa gggtcctgag tcctggagat gtccccagaa gctgctgtgc ctcacagcgc
     3301 tgtgagccag accctccttg ggcagacagg ctgactggca gcaccagctt tgggggcaga
     3361 gtcctaggat gaggcttggg cagtgctggt agggtttcaa ggtgctatta gtggggcagg
     3421 ggcagggcgg ctgctcacag agcaccccag ttcctcacca gctactctgg ccatatatcc
     3481 cacaccagaa ggaacaagtg tggctgtgtc catctctgct cccccaaagg cccgctctag
     3541 gccttatcct ccctctaggt cctgccacaa cctgtccctg gctggctcca gcgtcctcgt
     3601 ccctcctggg cctgtgcacc ggtgggtggg gcgcccatag cactgccggt aaaggagcct
     3661 gcatgttcag gcccctcggg ggattggggg gactggggag gcgcagccta gacccaattg
     3721 cttgccccca tgaggctagc actaatagga aacccttttt tgttgtcatt taatgtcttt
     3781 attcctgcct ttaatatggg gaggaaggtt ccataagcta catgtttcct agttaagctc
     3841 tttcctattg tgtttataca gttttgtttg ttatactctt tgcaccttaa acccccacca
     3901 ctccccgaca ctattgcctt cccagcatgg ctggagtggg aagaggcttg ggccccgggg
     3961 gaatggttag ggggactgaa cccctctgac cttatgaggc ccatggcact ggggcaggga
     4021 gctggggaca ttttaatcat caataaacga agcactttat tctgtacaga tttgggcagg
     4081 cccaaggtgc ccgagtgatc tgaggattta taatccaagc cacaccaccc tggttgttct
     4141 ctgggcttgg agggtacagt gccagcagct tccttgccca attgatgttg gagctgtaga
     4201 cgtacgctca ggcgctcctg ctgtcctggg ggagagaagg ttcgcccctc cccgaggaag
     4261 aaggcttctg gtcaggaccc ccaccccaag gctggggact ccaggctcct gctttactgt
     4321 agctcttttt cttccttgca ctccttgatc tttgggcttc cgtgatgtcc tcagggtccc
     4381 cccctccctg ttgctatttt taatctctag tcccagtgcc tggcagctct ttggagctgg
     4441 ctcacatttt cccaaaaaaa gttgatctct cccagtgggc tgtaggcagg gtcctccatg
     4501 ggtttccaac ccccatcact ggcaccagga tctcccacag gcactggtgg tgtcatcacc
     4561 tgctggcccc actacagcct gagtaggcct gagtggccgt ggccaggctg agacctgtca
     4621 ggccatactg acaagcagag gtcagagaca ctggtgggga gctggcaatg aaaccctgtc
     4681 ctgggacatg ggtttcatgt tcttgtacac ttcccctctg ggatcaggtg aggggtccag
     4741 acagctgacc agacagcttg acagctggtc aagacggtca cgggagctct aggtgggcac
     4801 aaccaacccc tctcctggga ggcccctgcc ccactgggga taggagcctg tgtccctggt
     4861 gctaagcact ctcttcactt gggccattgt tggtgggggc tcctttccgg ccagaccaca
     4921 aggccagaag caataatggc acctcagcag ttccagtatg gataggggtt cctgttttac
     4981 tagcttttac atctttttat ttaaaacaaa acaacacaaa aaaacaatgt gcccccagat
     5041 gtcagaatga ggcgactagg gcaccatact cactttccag ggctggggga agggggacgc
     5101 aggatcatcc cctcccaagg agatctgtgg gggtcccacc gtccatctgg acttctcagc
     5161 ctgtttggct agaactcagg cctggagtct gggtctgccc cctccccggc tccttggggc
     5221 tctctggtct caggccagct ggcgatgggt ggctagagtg atgaactcaa gccctgtggc
     5281 cacagttctg ggagccttca accctggctc atgctgccat agtctccacg gtgcccttca
     5341 cagagggctt ggtagtggca gaatggccat gcccaggtgt gtgttgagac cattgacaac
     5401 tgctcgtgta caggcacccc acagccccag agcatggggc acagcaggca tgcgagtgag
     5461 aggatgaagg ggaataaagt cagtacaact cgtg
//
