LOCUS       NM_001271893            1342 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens twist family bHLH transcription factor 2 (TWIST2),
            transcript variant 1, mRNA.
ACCESSION   NM_001271893
VERSION     NM_001271893.4
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 1342)
  AUTHORS   Gaulton,N., Wakelin,G., Young,L.V., Wotherspoon,S., Kamal,M.,
            Parise,G., Nederveen,J.P., Holwerda,A., Verdijk,L.B., van
            Loon,L.J.C., Snijders,T. and Johnston,A.P.
  TITLE     Twist2-expressing cells reside in human skeletal muscle and are
            responsive to aging and resistance exercise training
  JOURNAL   FASEB J 36 (12), e22642 (2022)
   PUBMED   36374263
  REMARK    GeneRIF: Twist2-expressing cells reside in human skeletal muscle
            and are responsive to aging and resistance exercise training.
REFERENCE   2  (bases 1 to 1342)
  AUTHORS   Yang,C.C., Dai,C.Y., Luo,K.H., Lee,K.W., Wu,C.H., Hung,C.H.,
            Chuang,H.Y. and Kuo,C.H.
  TITLE     Single Nucleotide Polymorphism of TWIST2 May Be a Modifier for the
            Association between High-Density Lipoprotein Cholesterol and Blood
            Lead (Pb) Level
  JOURNAL   Int J Environ Res Public Health 19 (3), 1352 (2022)
   PUBMED   35162374
  REMARK    GeneRIF: Single Nucleotide Polymorphism of TWIST2 May Be a Modifier
            for the Association between High-Density Lipoprotein Cholesterol
            and Blood Lead (Pb) Level.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1342)
  AUTHORS   Wang,X., Yu,X., Long,X. and Pu,Q.
  TITLE     MIR205 host gene (MIR205HG) drives osteosarcoma metastasis via
            regulating the microRNA 2114-3p (miR-2114-3p)/twist family bHLH
            transcription factor 2 (TWIST2) axis
  JOURNAL   Bioengineered 12 (1), 1576-1586 (2021)
   PUBMED   33949284
  REMARK    GeneRIF: MIR205 host gene (MIR205HG) drives osteosarcoma metastasis
            via regulating the microRNA 2114-3p (miR-2114-3p)/twist family bHLH
            transcription factor 2 (TWIST2) axis.
REFERENCE   4  (bases 1 to 1342)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 1342)
  AUTHORS   Zhang,Y., Ge,X., Li,Y., Zhang,B., Wang,P., Hao,M., Gao,P., Zhao,Y.,
            Sun,T., Lu,S. and Ma,W.
  TITLE     TWIST2 and the PPAR signaling pathway are important in the
            progression of nonalcoholic steatohepatitis
  JOURNAL   Lipids Health Dis 20 (1), 39 (2021)
   PUBMED   33879188
  REMARK    GeneRIF: TWIST2 and the PPAR signaling pathway are important in the
            progression of nonalcoholic steatohepatitis.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1342)
  AUTHORS   Lee,Y.S., Lee,H.H., Park,J., Yoo,E.J., Glackin,C.A., Choi,Y.I.,
            Jeon,S.H., Seong,R.H., Park,S.D. and Kim,J.B.
  TITLE     Twist2, a novel ADD1/SREBP1c interacting protein, represses the
            transcriptional activity of ADD1/SREBP1c
  JOURNAL   Nucleic Acids Res 31 (24), 7165-7174 (2003)
   PUBMED   14654692
REFERENCE   7  (bases 1 to 1342)
  AUTHORS   Gong,X.Q. and Li,L.
  TITLE     Dermo-1, a multifunctional basic helix-loop-helix protein,
            represses MyoD transactivation via the HLH domain, MEF2
            interaction, and chromatin deacetylation
  JOURNAL   J Biol Chem 277 (14), 12310-12317 (2002)
   PUBMED   11809751
REFERENCE   8  (bases 1 to 1342)
  AUTHORS   Lee,M.S., Lowe,G., Flanagan,S., Kuchler,K. and Glackin,C.A.
  TITLE     Human Dermo-1 has attributes similar to twist in early bone
            development
  JOURNAL   Bone 27 (5), 591-602 (2000)
   PUBMED   11062344
REFERENCE   9  (bases 1 to 1342)
  AUTHORS   Perrin-Schmitt,F., Bolcato-Bellemin,A.L., Bourgeois,P., Stoetzel,C.
            and Danse,J.M.
  TITLE     The locations of the H-twist and H-dermo-1 genes are distinct on
            the human genome
  JOURNAL   Biochim Biophys Acta 1360 (1), 1-2 (1997)
   PUBMED   9061034
REFERENCE   10 (bases 1 to 1342)
  AUTHORS   Li,L., Cserjesi,P. and Olson,E.N.
  TITLE     Dermo-1: a novel twist-related bHLH protein expressed in the
            developing dermis
  JOURNAL   Dev Biol 172 (1), 280-292 (1995)
   PUBMED   7589808
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC017907.1 and AC142117.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001271893.3.
            
            Summary: The protein encoded by this gene is a basic
            helix-loop-helix type transcription factor and shares similarity
            with Twist. This protein may inhibit osteoblast maturation and
            maintain cells in a preosteoblast phenotype during osteoblast
            development. This gene may be upregulated in certain cancers.
            Mutations in this gene cause focal facial dermal dysplasia 3,
            Setleis type. Two transcript variants encoding the same protein
            have been found. [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 both encode the same protein.
            
            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 :: BC017907.1, BU631564.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000612363.2/ ENSP00000482581.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1208              BC017907.1         1-1208
            1209-1209           AC142117.2         119-119
            1210-1342           BC017907.1         1210-1342
FEATURES             Location/Qualifiers
     source          1..1342
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..1342
                     /gene="TWIST2"
                     /gene_synonym="AMS; BBRSAY; bHLHa39; DERMO1; FFDD3;
                     SETLSS"
                     /note="twist family bHLH transcription factor 2"
                     /db_xref="GeneID:117581"
                     /db_xref="HGNC:HGNC:20670"
                     /db_xref="MIM:607556"
     exon            1..649
                     /gene="TWIST2"
                     /gene_synonym="AMS; BBRSAY; bHLHa39; DERMO1; FFDD3;
                     SETLSS"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..614
                     /gene="TWIST2"
                     /gene_synonym="AMS; BBRSAY; bHLHa39; DERMO1; FFDD3;
                     SETLSS"
                     /note="dermis-expressed protein 1; twist-related bHLH
                     protein Dermo1; class A basic helix-loop-helix protein 39;
                     twist homolog 2; twist basic helix-loop-helix
                     transcription factor 2"
                     /codon_start=1
                     /product="twist-related protein 2"
                     /protein_id="NP_001258822.1"
                     /db_xref="CCDS:CCDS46558.1"
                     /db_xref="GeneID:117581"
                     /db_xref="HGNC:HGNC:20670"
                     /db_xref="MIM:607556"
                     /translation="MEEGSSSPVSPVDSLGTSEEELERQPKRFGRKRRYSKKSSEDGS
                     PTPGKRGKKGSPSAQSFEELQSQRILANVRERQRTQSLNEAFAALRKIIPTLPSDKLS
                     KIQTLKLAARYIDFLYQVLQSDEMDNKMTSCSYVAHERLSYAFSVWRMEGAWSMSASH
                     "
     exon            650..1342
                     /gene="TWIST2"
                     /gene_synonym="AMS; BBRSAY; bHLHa39; DERMO1; FFDD3;
                     SETLSS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1325..1330
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TWIST2"
                     /gene_synonym="AMS; BBRSAY; bHLHa39; DERMO1; FFDD3;
                     SETLSS"
                     /note="hexamer: AATAAA"
     polyA_site      1342
                     /gene="TWIST2"
                     /gene_synonym="AMS; BBRSAY; bHLHa39; DERMO1; FFDD3;
                     SETLSS"
                     /note="major polyA site"
ORIGIN      
        1 gcacaagccg gccttgaaat cagagccttt ccagcaactc cgagagcgtg tgctcggcga
       61 ccgcgggctt ggccagcggc gcgcgctcgg cgccccggcg cccccagccc cacgcgcgcc
      121 gggcgggcgc catggaggag ggctccagct cgcccgtgtc ccccgtggac agcctgggca
      181 ccagcgagga ggagctcgag aggcagccca agcgcttcgg ccggaagcgg cgctacagca
      241 agaagtcgag cgaagatggc agcccgaccc cgggcaagcg cggcaagaag ggcagcccca
      301 gcgcgcagtc cttcgaggag ctgcagagcc agcgcatcct ggccaacgtg cgcgagcgcc
      361 agcgcaccca gtcgctcaac gaggccttcg cggcgctgcg caagatcatc cccacgctgc
      421 cctctgacaa gctgagcaag atccagacgc tcaagctggc cgccaggtac atagacttcc
      481 tctaccaggt cctgcagagc gacgagatgg acaataagat gaccagctgc agctacgtgg
      541 cccacgagcg cctcagctac gccttctccg tgtggcgcat ggagggcgcg tggtccatgt
      601 ccgcctccca ctagcgccgc gccacccacc tccggaccgg cgcgccaggg ctgtccgtcg
      661 cgtcggcggc gcaagtggaa ttgggatgca ttcgagtctg taacttctga aacctgaaca
      721 acctcaggag gcccccacct ctgccctcca ccagcgtcga gagaagggac agcagtgaca
      781 tcggacagaa gacccgggct cccgtcctcc cccaggacgg tccccacata ggaagggcac
      841 tcccagccct cttgctggtg acattgtcat ggtcatcttg tttctgtttg gatttttctt
      901 ctgggtctta tgtttggggg gaggtttatt ctttctgaaa atgtctagat tcaggaacac
      961 atttatgagg atttggattt tgaatttgta tttccctcta agtgcctttt ttaatgtcta
     1021 tttttttaat aaaacagaaa tgcattcttg tacaattctg ttgaaactgg accaaggctc
     1081 tcagaagagg acccccgagt tccttcccct cccccgagcc tctgcatgat tgtttcaagt
     1141 cagcctggaa ttcttacttt cacgccgcta ttcttttcct ttctccgtga ttgcttggct
     1201 agccatttaa aaaaaaatat tctctgttca gtgtatatgt tgcttgtttg ttttatttat
     1261 tgagatattt ttacaagcta agtgactgca gtgtggctgt gtatcctgct ccccacccag
     1321 gaaaaataaa gacgtccgcg ca
//
