LOCUS       NM_001330305            2299 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens NGFI-A binding protein 2 (NAB2), transcript variant 2,
            mRNA.
ACCESSION   NM_001330305 XM_005268894
VERSION     NM_001330305.2
KEYWORDS    RefSeq.
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 2299)
  AUTHORS   Eschbacher,K.L., Tran,Q.T., Moskalev,E.A., Jenkins,S., Fritchie,K.,
            Stoehr,R., Caron,A., Link,M.J., Brown,P.D., Guajardo,A., Brat,D.J.,
            Wu,A., Santagata,S., Louis,D.N., Brastianos,P.K., Kaplan,A.B.,
            Alexander,B., Rossi,S., Ferrarese,F., Raleigh,D.R., Nguyen,M.P.,
            Gross,J., Velazquez Vega,J., Rodriguez,F., Perry,A.,
            Martinez-Lage,M., Orr,B.A., Haller,F. and Giannini,C.
  TITLE     NAB2::STAT6 fusions and genome-wide DNA methylation profiling:
            Predictors of patient outcomes in meningeal solitary fibrous tumors
  JOURNAL   Brain Pathol 34 (6), e13256 (2024)
   PUBMED   38523251
  REMARK    GeneRIF: NAB2::STAT6 fusions and genome-wide DNA methylation
            profiling: Predictors of patient outcomes in meningeal solitary
            fibrous tumors.
REFERENCE   2  (bases 1 to 2299)
  AUTHORS   Shirakura,T., Yamada,Y., Nakata,S., Asayama,B., Seo,Y.,
            Tanikawa,S., Kato,T., Komoribayashi,N., Kubo,N., Monma,N.,
            Okura,N., Tanaka,S., Oda,Y., Hirato,J., Yokoo,H. and Nobusawa,S.
  TITLE     Analysis of clinicopathological features and NAB2-STAT6 fusion
            variants of meningeal solitary fibrous tumor with ectopic salivary
            gland components in the cerebellopontine angle
  JOURNAL   Virchows Arch 481 (6), 913-923 (2022)
   PUBMED   36056239
  REMARK    GeneRIF: Analysis of clinicopathological features and NAB2-STAT6
            fusion variants of meningeal solitary fibrous tumor with ectopic
            salivary gland components in the cerebellopontine angle.
REFERENCE   3  (bases 1 to 2299)
  AUTHORS   Stevens,T.M., Rooper,L.M., Bacchi,C.E., Fernandes,I.L.,
            Antonescu,C.R., Gagan,J. and Bishop,J.A.
  TITLE     Teratocarcinosarcoma-Like and Adamantinoma-Like Head and Neck
            Neoplasms Harboring NAB2::STAT6: Unusual Variants of Solitary
            Fibrous Tumor or Novel Tumor Entities?
  JOURNAL   Head Neck Pathol 16 (3), 746-754 (2022)
   PUBMED   35303277
  REMARK    GeneRIF: Teratocarcinosarcoma-Like and Adamantinoma-Like Head and
            Neck Neoplasms Harboring NAB2::STAT6: Unusual Variants of Solitary
            Fibrous Tumor or Novel Tumor Entities?
REFERENCE   4  (bases 1 to 2299)
  AUTHORS   Georgiesh,T., Namlos,H.M., Sharma,N., Lorenz,S., Myklebost,O.,
            Bjerkehagen,B., Meza-Zepeda,L.A. and Boye,K.
  TITLE     Clinical and molecular implications of NAB2-STAT6 fusion variants
            in solitary fibrous tumour
  JOURNAL   Pathology 53 (6), 713-719 (2021)
   PUBMED   33745702
  REMARK    GeneRIF: Clinical and molecular implications of NAB2-STAT6 fusion
            variants in solitary fibrous tumour.
REFERENCE   5  (bases 1 to 2299)
  AUTHORS   Haller,F., Schlieben,L.D., Ferrazzi,F., Michal,M., Stohr,R.,
            Moskalev,E.A., Bieg,M., Bovee,J.V.M.G., Strobel,P., Ishaque,N.,
            Grutzmann,R., Meidenbauer,N., Eils,R., Wiemann,S., Hartmann,A.,
            Michal,M. and Agaimy,A.
  TITLE     Lipomatous Solitary Fibrous Tumors Harbor Rare NAB2-STAT6 Fusion
            Variants and Show Up-Regulation of the Gene PPARG, Encoding for a
            Regulator of Adipocyte Differentiation
  JOURNAL   Am J Pathol 191 (7), 1314-1324 (2021)
   PUBMED   33887215
  REMARK    GeneRIF: Lipomatous Solitary Fibrous Tumors Harbor Rare NAB2-STAT6
            Fusion Variants and Show Up-Regulation of the Gene PPARG, Encoding
            for a Regulator of Adipocyte Differentiation.
REFERENCE   6  (bases 1 to 2299)
  AUTHORS   Svaren,J., Sevetson,B.R., Golda,T., Stanton,J.J., Swirnoff,A.H. and
            Milbrandt,J.
  TITLE     Novel mutants of NAB corepressors enhance activation by Egr
            transactivators
  JOURNAL   EMBO J 17 (20), 6010-6019 (1998)
   PUBMED   9774344
REFERENCE   7  (bases 1 to 2299)
  AUTHORS   Qu,Z., Wolfraim,L.A., Svaren,J., Ehrengruber,M.U., Davidson,N. and
            Milbrandt,J.
  TITLE     The transcriptional corepressor NAB2 inhibits NGF-induced
            differentiation of PC12 cells
  JOURNAL   J Cell Biol 142 (4), 1075-1082 (1998)
   PUBMED   9722618
REFERENCE   8  (bases 1 to 2299)
  AUTHORS   Svaren,J., Apel,E.D., Simburger,K.S., Jenkins,N.A., Gilbert,D.J.,
            Copeland,N.A. and Milbrandt,J.
  TITLE     The Nab2 and Stat6 genes share a common transcription termination
            region
  JOURNAL   Genomics 41 (1), 33-39 (1997)
   PUBMED   9126479
REFERENCE   9  (bases 1 to 2299)
  AUTHORS   Svaren,J., Sevetson,B.R., Apel,E.D., Zimonjic,D.B., Popescu,N.C.
            and Milbrandt,J.
  TITLE     NAB2, a corepressor of NGFI-A (Egr-1) and Krox20, is induced by
            proliferative and differentiative stimuli
  JOURNAL   Mol Cell Biol 16 (7), 3545-3553 (1996)
   PUBMED   8668170
REFERENCE   10 (bases 1 to 2299)
  AUTHORS   Kirsch,K.H., Korradi,Y. and Johnson,J.P.
  TITLE     Mader: a novel nuclear protein over expressed in human melanomas
  JOURNAL   Oncogene 12 (5), 963-971 (1996)
   PUBMED   8649813
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC065931.1 and BQ956141.1.
            
            On May 31, 2019 this sequence version replaced NM_001330305.1.
            
            Summary: This gene encodes a member of the family of NGFI-A binding
            (NAB) proteins, which function in the nucleus to repress
            transcription induced by some members of the EGR (early growth
            response) family of transactivators. NAB proteins can homo- or
            hetero-multimerize with other EGR or NAB proteins through a
            conserved N-terminal domain, and repress transcription through two
            partially redundant C-terminal domains. Transcriptional repression
            by the encoded protein is mediated in part by interactions with the
            nucleosome remodeling and deactylase (NuRD) complex. Alternatively
            spliced transcript variants have been described, but their
            biological validity has not been determined. [provided by RefSeq,
            Jul 2008].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 3' coding region compared to variant 1. The encoded
            isoform (2) is shorter, but has the same N- and C-termini as
            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 :: SRR6380199.63762.27,
                                           SRR1163655.239375.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-891               BC065931.1         8-898
            892-1661            BQ956141.1         1-770
            1662-2299           BC065931.1         1861-2498
FEATURES             Location/Qualifiers
     source          1..2299
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12q13.3"
     gene            1..2299
                     /gene="NAB2"
                     /gene_synonym="MADER"
                     /note="NGFI-A binding protein 2"
                     /db_xref="GeneID:4665"
                     /db_xref="HGNC:HGNC:7627"
                     /db_xref="MIM:602381"
     exon            1..241
                     /gene="NAB2"
                     /gene_synonym="MADER"
                     /inference="alignment:Splign:2.1.0"
     CDS             159..1544
                     /gene="NAB2"
                     /gene_synonym="MADER"
                     /note="isoform 2 is encoded by transcript variant 2;
                     melanoma-associated delayed early response protein; EGR1
                     binding protein 2"
                     /codon_start=1
                     /product="NGFI-A-binding protein 2 isoform 2"
                     /protein_id="NP_001317234.1"
                     /db_xref="CCDS:CCDS81701.1"
                     /db_xref="GeneID:4665"
                     /db_xref="HGNC:HGNC:7627"
                     /db_xref="MIM:602381"
                     /translation="MHRAPSPTAEQPPGGGDSARRTLQPRLKPSARAMALPRTLGELQ
                     LYRVLQRANLLSYYETFIQQGGDDVQQLCEAGEEEFLEIMALVGMATKPLHVRRLQKA
                     LREWATNPGLFSQPVPAVPVSSIPLFKISETAGTRKGSMSNGHGSPGEKAGSARSFSP
                     KSPLELGEKLSPLPGGPGAGDPRIWPGRSTPESDVGAGGEEEAGSPPFSPPAGGGVPE
                     GTGAGGLAAGGTGGGPDRLEPEMVRMVVESVERIFRSFPRGDAGEVTSLLKLNKKLAR
                     SVGHIFEMDDNDSQKEEEIRKYSIIYGRFDSKRREGKQLSLHELTINEAAAQFCMRDN
                     TLLLRRVELFSLSRQVARESTYLSSLKGSRLHPEELGGPPLKKLKQEVGEQSHPEIQQ
                     PPPGPESYVPPYRPSLEEDSASLSGESLDGHLQEFEEGLLDRCPAPGPHPALVEGRRS
                     SVKVEAEASRQ"
     exon            242..1115
                     /gene="NAB2"
                     /gene_synonym="MADER"
                     /inference="alignment:Splign:2.1.0"
     exon            1116..1249
                     /gene="NAB2"
                     /gene_synonym="MADER"
                     /inference="alignment:Splign:2.1.0"
     exon            1250..1301
                     /gene="NAB2"
                     /gene_synonym="MADER"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..1434
                     /gene="NAB2"
                     /gene_synonym="MADER"
                     /inference="alignment:Splign:2.1.0"
     exon            1435..2299
                     /gene="NAB2"
                     /gene_synonym="MADER"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2274..2279
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NAB2"
                     /gene_synonym="MADER"
                     /note="hexamer: AATAAA"
     polyA_site      2299
                     /gene="NAB2"
                     /gene_synonym="MADER"
                     /note="major polyA site"
ORIGIN      
        1 agacagaggc gcggaggctc ggagagagaa gacgtggagg gagggacaga gcctggacag
       61 cggtggacac ggcatcgtgc gcggggaaga gggcagcacg cagcaggcgc cgagcgccgg
      121 gcaccgagaa gggcagcccg ggtgatctcc ggccgtccat gcacagagcg ccttccccca
      181 cagccgagca gccgccgggc ggaggggaca gcgcccgccg gaccctgcag cccagactca
      241 agcccagtgc ccgagccatg gcactgcctc ggacgctggg ggagctgcag ctgtaccggg
      301 tcctgcagcg cgccaacctc ctttcctact atgagacctt catccagcag ggaggggacg
      361 acgtgcagca gctgtgtgag gcgggtgagg aggagtttct ggagatcatg gcacttgtgg
      421 gcatggccac caagcccctc catgtccggc gcctgcagaa ggcactgaga gagtgggcca
      481 ccaatccagg gctcttcagt caaccagtgc ctgctgttcc cgtctccagc atcccgctct
      541 tcaagatctc tgagactgcg ggtacccgga aagggagcat gagcaatggg catggcagcc
      601 caggggaaaa ggcaggcagt gcccgcagtt ttagccccaa gagccccctt gaacttggag
      661 agaagctatc accactgcct gggggacctg gggcagggga cccccggatc tggccaggcc
      721 ggagcactcc agagtcggac gttggggcag gaggagaaga ggaggctggc tcgcccccct
      781 tctccccccc tgcaggggga ggagtccctg aggggactgg ggctgggggg ctggcagcag
      841 gtgggactgg gggtggtcca gaccgactgg agccagagat ggtacgcatg gtggtggaaa
      901 gtgtggagag gatcttccgg agcttcccaa ggggggatgc tggggaggtc acatccctgc
      961 taaagctgaa taagaagctg gcacggagcg ttgggcacat ctttgagatg gatgataatg
     1021 acagccagaa ggaagaggag atccgcaaat acagcatcat ctatggccgt ttcgactcta
     1081 agcggcggga gggcaagcag ctcagcctgc acgagctcac catcaacgag gctgctgccc
     1141 agttctgcat gagggacaac acgctcttat tacggagagt ggagctcttc tctttgtccc
     1201 gccaagtagc ccgagagagc acctacttgt cctccttgaa gggctccagg cttcaccctg
     1261 aagaactggg aggccctcca ctgaagaagc tgaaacaaga ggttggagaa cagagtcacc
     1321 ctgaaatcca gcagcctccc ccaggccctg agtcctatgt acccccatac cgccccagcc
     1381 tggaggagga cagcgccagc ctgtctgggg agagtctgga tggacatttg caggagttcg
     1441 aggaagggct gctggacaga tgtcctgccc caggacccca tcccgcgctg gtggagggtc
     1501 gcaggagcag cgtgaaagtg gaggctgagg ccagccggca gtgagggttg gactggtgtc
     1561 ttcagaccca ggacctcaga cttctggctc acacagaccc ccacgctctc catccccgga
     1621 atctagtcac aaccctggat ccttcctctg cccttctcct gcctccccac ctgctccatg
     1681 ggcataagac tgtggggctt caagcaataa caagcagagg cctggagaga ggacacaagg
     1741 agggtgcgtg gtgccctcac ccctgcccag agcgaggggg caaggactct gcctccaggg
     1801 catctggggt tttcccctcc ctcacacaac acactcccat tctctttagg tttgcaccag
     1861 tggtgtgagc agttggactc agtttggaca agggggaaag ggggacttcc ctgggaaggt
     1921 ccagctaaaa gtggcaacat ttgcccccag aattgggggc ctgggaacac tggacctgct
     1981 ccttctcccc tctccttccc cgtttttgtg cttctggttt gtttctttaa ttaatttaac
     2041 aagtgctgca gtttgccctc ccattcccat ctatccccca agtcctttgc aatttcttcc
     2101 ctgccctaca taggggcggt gggtgtggga tcccttcact ggccccctcg ggaggcctgg
     2161 gttggactca gggtctcctc cagctggggg ctggaccgca gcacctatct gagcagttag
     2221 agcgtctttc ttttcagatt gtgtacagta gattatttat tttgttattt tggaataaaa
     2281 tttattttat ggcttagga
//
