LOCUS       NM_012412               3026 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens H2A.Z variant histone 2 (H2AZ2), transcript variant 1,
            mRNA.
ACCESSION   NM_012412
VERSION     NM_012412.5
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 3026)
  AUTHORS   Seal,R.L., Denny,P., Bruford,E.A., Gribkova,A.K., Landsman,D.,
            Marzluff,W.F., McAndrews,M., Panchenko,A.R., Shaytan,A.K. and
            Talbert,P.B.
  TITLE     A standardized nomenclature for mammalian histone genes
  JOURNAL   Epigenetics Chromatin 15 (1), 34 (2022)
   PUBMED   36180920
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3026)
  AUTHORS   Lubin,E., Bryant,L., Aicher,J., Li,D. and Bhoj,E.
  TITLE     Analysis of histone variant constraint and tissue expression
            suggests five potential novel human disease genes: H2AFY2, H2AFZ,
            H2AFY, H2AFV, H1F0
  JOURNAL   Hum Genet 141 (8), 1409-1421 (2022)
   PUBMED   35072799
  REMARK    GeneRIF: Analysis of histone variant constraint and tissue
            expression suggests five potential novel human disease genes:
            H2AFY2, H2AFZ, H2AFY, H2AFV, H1F0.
REFERENCE   3  (bases 1 to 3026)
  AUTHORS   Kujirai,T. and Kurumizaka,H.
  TITLE     Transcription through the nucleosome
  JOURNAL   Curr Opin Struct Biol 61, 42-49 (2020)
   PUBMED   31790919
  REMARK    Review article
REFERENCE   4  (bases 1 to 3026)
  AUTHORS   Shaytan,A.K., Landsman,D. and Panchenko,A.R.
  TITLE     Nucleosome adaptability conferred by sequence and structural
            variations in histone H2A-H2B dimers
  JOURNAL   Curr Opin Struct Biol 32, 48-57 (2015)
   PUBMED   25731851
  REMARK    Review article
REFERENCE   5  (bases 1 to 3026)
  AUTHORS   Sadakierska-Chudy,A., Kostrzewa,R.M. and Filip,M.
  TITLE     A comprehensive view of the epigenetic landscape part I: DNA
            methylation, passive and active DNA demethylation pathways and
            histone variants
  JOURNAL   Neurotox Res 27 (1), 84-97 (2015)
   PUBMED   25362550
  REMARK    Review article
REFERENCE   6  (bases 1 to 3026)
  AUTHORS   Horikoshi,N., Sato,K., Shimada,K., Arimura,Y., Osakabe,A.,
            Tachiwana,H., Hayashi-Takanaka,Y., Iwasaki,W., Kagawa,W.,
            Harata,M., Kimura,H. and Kurumizaka,H.
  TITLE     Structural polymorphism in the L1 loop regions of human H2A.Z.1 and
            H2A.Z.2
  JOURNAL   Acta Crystallogr D Biol Crystallogr 69 (Pt 12), 2431-2439 (2013)
   PUBMED   24311584
  REMARK    GeneRIF: A mutational analysis revealed that the amino-acid
            difference at position 38 is at least partially responsible for the
            structural polymorphism in the L1 loop region of H2A.Z.1 and
            H2A.Z.2.
REFERENCE   7  (bases 1 to 3026)
  AUTHORS   Lusic,M., Marcello,A., Cereseto,A. and Giacca,M.
  TITLE     Regulation of HIV-1 gene expression by histone acetylation and
            factor recruitment at the LTR promoter
  JOURNAL   EMBO J 22 (24), 6550-6561 (2003)
   PUBMED   14657027
REFERENCE   8  (bases 1 to 3026)
  AUTHORS   Deng,L., Wang,D., de la Fuente,C., Wang,L., Li,H., Lee,C.G.,
            Donnelly,R., Wade,J.D., Lambert,P. and Kashanchi,F.
  TITLE     Enhancement of the p300 HAT activity by HIV-1 Tat on chromatin DNA
  JOURNAL   Virology 289 (2), 312-326 (2001)
   PUBMED   11689053
REFERENCE   9  (bases 1 to 3026)
  AUTHORS   Deng,L., de la Fuente,C., Fu,P., Wang,L., Donnelly,R., Wade,J.D.,
            Lambert,P., Li,H., Lee,C.G. and Kashanchi,F.
  TITLE     Acetylation of HIV-1 Tat by CBP/P300 increases transcription of
            integrated HIV-1 genome and enhances binding to core histones
  JOURNAL   Virology 277 (2), 278-295 (2000)
   PUBMED   11080476
REFERENCE   10 (bases 1 to 3026)
  AUTHORS   El Kharroubi,A., Piras,G., Zensen,R. and Martin,M.A.
  TITLE     Transcriptional activation of the integrated chromatin-associated
            human immunodeficiency virus type 1 promoter
  JOURNAL   Mol Cell Biol 18 (5), 2535-2544 (1998)
   PUBMED   9566873
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC004854.3.
            
            On Dec 3, 2019 this sequence version replaced NM_012412.4.
            
            Summary: Histones are basic nuclear proteins that are responsible
            for the nucleosome structure of the chromosomal fiber in
            eukaryotes. Nucleosomes consist of approximately 146 bp of DNA
            wrapped around a histone octamer composed of pairs of each of the
            four core histones (H2A, H2B, H3, and H4). The chromatin fiber is
            further compacted through the interaction of a linker histone, H1,
            with the DNA between the nucleosomes to form higher order chromatin
            structures. This gene encodes a replication-independent histone
            that is a member of the histone H2A family. Several transcript
            variants encoding different isoforms, have been identified for this
            gene. [provided by RefSeq, Oct 2015].
            
            Transcript Variant: This variant (1) encodes the longest protein
            (isoform 1).
            
            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 :: SRR11853559.29457.1,
                                           SRR11853567.27155.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142853, SAMEA2147975
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match              :: ENST00000308153.9/
                                               ENSP00000308405.5
            RefSeq Select criteria          :: based on manual assertion,
                                               conservation, expression,
                                               longest protein
            replication-independent histone :: PMID: 25731851
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-119               AC004854.3         72589-72707
            120-197             AC004854.3         77322-77399
            198-311             AC004854.3         79664-79777
            312-441             AC004854.3         85018-85147
            442-3026            AC004854.3         86114-88698
FEATURES             Location/Qualifiers
     source          1..3026
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p13"
     gene            1..3026
                     /gene="H2AZ2"
                     /gene_synonym="H2A.Z-2; H2AFV; H2AV"
                     /note="H2A.Z variant histone 2"
                     /db_xref="GeneID:94239"
                     /db_xref="HGNC:HGNC:20664"
                     /db_xref="MIM:620008"
     exon            1..119
                     /gene="H2AZ2"
                     /gene_synonym="H2A.Z-2; H2AFV; H2AV"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..503
                     /gene="H2AZ2"
                     /gene_synonym="H2A.Z-2; H2AFV; H2AV"
                     /note="isoform 1 is encoded by transcript variant 1;
                     purine-rich binding element protein B; histone H2A.V;
                     histone H2A.F/Z; H2A histone family member V"
                     /codon_start=1
                     /product="histone H2A.V isoform 1"
                     /protein_id="NP_036544.1"
                     /db_xref="CCDS:CCDS5496.1"
                     /db_xref="GeneID:94239"
                     /db_xref="HGNC:HGNC:20664"
                     /db_xref="MIM:620008"
                     /translation="MAGGKAGKDSGKAKAKAVSRSQRAGLQFPVGRIHRHLKTRTTSH
                     GRVGATAAVYSAAILEYLTAEVLELAGNASKDLKVKRITPRHLQLAIRGDEELDSLIK
                     ATIAGGGVIPHIHKSLIGKKGQQKTA"
     exon            120..197
                     /gene="H2AZ2"
                     /gene_synonym="H2A.Z-2; H2AFV; H2AV"
                     /inference="alignment:Splign:2.1.0"
     exon            198..311
                     /gene="H2AZ2"
                     /gene_synonym="H2A.Z-2; H2AFV; H2AV"
                     /inference="alignment:Splign:2.1.0"
     exon            312..441
                     /gene="H2AZ2"
                     /gene_synonym="H2A.Z-2; H2AFV; H2AV"
                     /inference="alignment:Splign:2.1.0"
     exon            442..3026
                     /gene="H2AZ2"
                     /gene_synonym="H2A.Z-2; H2AFV; H2AV"
                     /inference="alignment:Splign:2.1.0"
     regulatory      752..757
                     /regulatory_class="polyA_signal_sequence"
                     /gene="H2AZ2"
                     /gene_synonym="H2A.Z-2; H2AFV; H2AV"
                     /note="hexamer: GATAAA"
     polyA_site      776
                     /gene="H2AZ2"
                     /gene_synonym="H2A.Z-2; H2AFV; H2AV"
                     /note="major polyA site"
     regulatory      3004..3009
                     /regulatory_class="polyA_signal_sequence"
                     /gene="H2AZ2"
                     /gene_synonym="H2A.Z-2; H2AFV; H2AV"
                     /note="hexamer: TATAAA"
     polyA_site      3026
                     /gene="H2AZ2"
                     /gene_synonym="H2A.Z-2; H2AFV; H2AV"
ORIGIN      
        1 acggggtatt gtccggctcc ggcggcggcg gtcggtgctg cgagagcggc ggcggcggcg
       61 cgggtcggca gcgggagggc gcgcggccga gcggaggcgg agtcggcgcc gagaacatgg
      121 ctggaggcaa agctggaaag gacagtggga aggccaaggc taaggcagta tctcgctcac
      181 agagagctgg gctacagttt cctgtgggcc gcatccacag acacttgaag actcgcacca
      241 caagccatgg aagggtgggt gccactgctg ccgtgtacag tgctgcgatt ctggagtacc
      301 tcactgcaga ggtgctggag ctggcaggta atgcttctaa ggatctcaaa gtaaagcgta
      361 tcactccgcg tcacttgcag cttgcaatcc gtggtgatga agagttggat tctcttatca
      421 aggctaccat agctgggggt ggtgtgatcc ctcacatcca caaatctctg attggaaaga
      481 agggacagca gaaaactgct tagagggatg ctttaaccaa ccctcttcct ccccgtcatt
      541 gtactgtaac tgggacagaa gaaataatgg ggatatgtgg aatttttaac aacagttaaa
      601 tggaaaagca tagacaatta ctgtagacat gataaaagaa acatttgtat gttcttagac
      661 tcgaagtttg ataaaagtac cttttcatgt ggtgacagtt gtgtgttgat tggctaggtt
      721 tctcccgtgt gttttataca aaaatggaat tgataaacca ttttttacaa aattaatttg
      781 tctcaaaact gttctgttca tgatgtatta gaaatatttt actcagactt taaatatttt
      841 aaatctcaga ttggttattc agagtaacct tagaacagaa attgggaata tatctttaca
      901 atgattgata ccatggtata ttgactctta gatgctattg atctgtagca ccatttttta
      961 caaacgacta aggaaaaaac ctgccaatta aatcatgata tgccatcaat tatgagacat
     1021 cccaatttga gagatgttag attatagaaa agtatgcatt tatgactgaa atggtagtgg
     1081 aattatttga attctacacc aagcacttac catgtgccag gccctttgca gagtgctcta
     1141 ctgaccaaga aagttgttgc tgccacatta tagatgtgga gcctaagggt cacagaaatt
     1201 gtgtgctatg ccaaaaaaca ttgaactggt agatagaaaa tgacagagct aggattcaaa
     1261 cctagatctg gctgactcca gagcctagtt ttacctggaa ttgatgttca gtttatcaaa
     1321 ggtttctcct tttggtttaa aatcccaatt tttggcctgg cattgtggtt tacgcctgta
     1381 atcccaacac ttcgggagac cgaggctggt ggaacacttg aggtcaggag tttgagacca
     1441 gcctggccaa catggtaaaa cgccgtctcg gccaggcgcg gtggctcacg cctgtaatcc
     1501 cagcactttg ggaggccaag gtgggtgaat cacgaggtca ggaaatcgag accatcctgg
     1561 ctaacatggt gaaaccccgt ctctatttaa aaaaatacaa aaaattagcc gggtgtggtg
     1621 gcacgcgcct gtagtcccag ctactcagga ggctgaggca tgagaatgac gtgaacccgg
     1681 gaggcggagc ttgcagtgag ccaagatggc gccactgcac tccagcttgg cgactgagca
     1741 agactccctc tcaaaacaaa caaaaaaaag tctctactaa aaatacagaa attagccagg
     1801 catggtacac acatgttgtc ccaactactt ggggcactgg ggcacaaaaa atcacttgaa
     1861 cccaggaggc agaggttgca gtgagccaag atcacgccac tacactccag cctaggtgac
     1921 agagtgtgac tctgtctcaa aaaaaaaaat cccaactttt agtagtctct tagtcatgca
     1981 ataacagtaa tttgtacaat cttttaaaaa ttatatttat ttatcagttt ctaagaaact
     2041 tttttgtttg ttttgagaca ggctcttgct cttttgccca ggttgaagtg cagtggcatg
     2101 atcctggctc actgcagcct ccacctctca ggcccaagca atcctcttac ctcagccctg
     2161 caaatagctg ggaccacagg cacatgccac catacctggc taattttttt tatttatgta
     2221 agagacagag gtctccctat gttgcccagg ttggtattga actcctggct caagccatcc
     2281 tcccaccttg gcctcccaaa gtactgggat tataggcata agccaccatg ccctgcgcta
     2341 agtaactgtt acttgagtta atgtactagt taattgaccc ttagaaaatt atatttttct
     2401 gcttgcaagt cttcattaaa gaaggaaatt ttaaaatatt ttatagtata atgctatcca
     2461 aactcatttt taaaaacatt ttattatgga aattttcaca aatgcacaaa aagaatagca
     2521 gaatgaagct ctgtgtaccc atcctccaac agctgtcctg tggtcagtct tgtttacctg
     2581 catccccacc tatcccctgc cccaacccac agggatcagt ttgagtccca ttaacaggca
     2641 tagtattttc atgtctgtgt gatcagagac attcaaatat aactccaaag atagggtact
     2701 tttttgaaca taaccacaat accattgtgt aagactgcta aaacattttt tgatgccaag
     2761 taccagtcaa tattcaaact tcctgattgt ctcgtaagtt ttttttaaca gttggtttat
     2821 tcgagtcaag atccaggcaa gatctagatc ttgcattttg ttaatataat ctatagattt
     2881 aactttcctg tttttaattt ttgaagaaac taagttgttt gtcctataga attgtccttc
     2941 agtggatttt actgaatgta tcctaatggg atcatgtaca ccttttctgt cccctatatg
     3001 ttctataaac tgacagatct agaggg
//
