LOCUS       NM_001069               1616 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens tubulin beta 2A class IIa (TUBB2A), transcript variant
            1, mRNA.
ACCESSION   NM_001069
VERSION     NM_001069.3
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 1616)
  AUTHORS   Schroter,J., Syring,H., Gohring,G., Kolker,S., Opladen,T.,
            Hoffmann,G.F., Syrbe,S. and Jung-Klawitter,S.
  TITLE     Generation of an induced pluripotent stem cell line (DHMCi009-A)
            from an individual with TUBB2A tubulinopathy
  JOURNAL   Stem Cell Res 64, 102879 (2022)
   PUBMED   35930870
  REMARK    GeneRIF: Generation of an induced pluripotent stem cell line
            (DHMCi009-A) from an individual with TUBB2A tubulinopathy.
REFERENCE   2  (bases 1 to 1616)
  AUTHORS   Salokas,K., Liu,X., Ohman,T., Chowdhury,I., Gawriyski,L.,
            Keskitalo,S. and Varjosalo,M.
  TITLE     Physical and functional interactome atlas of human receptor
            tyrosine kinases
  JOURNAL   EMBO Rep 23 (6), e54041 (2022)
   PUBMED   35384245
REFERENCE   3  (bases 1 to 1616)
  AUTHORS   Ragoussis,V., Pagnamenta,A.T., Haines,R.L., Giacopuzzi,E.,
            McClatchey,M.A., Sampson,J.R., Suri,M., Gardham,A., Cobben,J.M.,
            Osio,D., Fry,A.E. and Taylor,J.C.
  CONSRTM   Genomics England Research Consortium
  TITLE     Using data from the 100,000 Genomes Project to resolve conflicting
            interpretations of a recurrent TUBB2A mutation
  JOURNAL   J Med Genet 59 (4), 366-369 (2022)
   PUBMED   33547136
  REMARK    GeneRIF: Using data from the 100,000 Genomes Project to resolve
            conflicting interpretations of a recurrent TUBB2A mutation.
REFERENCE   4  (bases 1 to 1616)
  AUTHORS   Jin,Y., Zhang,S. and Liu,L.
  TITLE     Circular RNA circ_C16orf62 Suppresses Cell Growth in Gastric Cancer
            by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis
  JOURNAL   Med Sci Monit 26, e924343 (2020)
   PUBMED   33006960
  REMARK    GeneRIF: Circular RNA circ_C16orf62 Suppresses Cell Growth in
            Gastric Cancer by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1616)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 1616)
  AUTHORS   Takahashi,M., Tomizawa,K., Sato,K., Ohtake,A. and Omori,A.
  TITLE     A novel tau-tubulin kinase from bovine brain
  JOURNAL   FEBS Lett 372 (1), 59-64 (1995)
   PUBMED   7556643
REFERENCE   7  (bases 1 to 1616)
  AUTHORS   Bahi-Buisson,N. and Maillard,C.
  TITLE     Tubulinopathies Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27010057
REFERENCE   8  (bases 1 to 1616)
  AUTHORS   Horisberger,M.A.
  TITLE     Interferon-induced human protein MxA is a GTPase which binds
            transiently to cellular proteins
  JOURNAL   J Virol 66 (8), 4705-4709 (1992)
   PUBMED   1629950
REFERENCE   9  (bases 1 to 1616)
  AUTHORS   Wang,D., Villasante,A., Lewis,S.A. and Cowan,N.J.
  TITLE     The mammalian beta-tubulin repertoire: hematopoietic expression of
            a novel, heterologous beta-tubulin isotype
  JOURNAL   J Cell Biol 103 (5), 1903-1910 (1986)
   PUBMED   3782288
REFERENCE   10 (bases 1 to 1616)
  AUTHORS   Lee,M.G., Lewis,S.A., Wilde,C.D. and Cowan,N.J.
  TITLE     Evolutionary history of a multigene family: an expressed human
            beta-tubulin gene and three processed pseudogenes
  JOURNAL   Cell 33 (2), 477-487 (1983)
   PUBMED   6688039
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL031963.40, X79535.1 and
            AL038778.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001069.2.
            
            Summary: Microtubules, key participants in processes such as
            mitosis and intracellular transport, are composed of heterodimers
            of alpha- and beta-tubulins. The protein encoded by this gene is a
            beta-tubulin. Defects in this gene are associated with complex
            cortical dysplasia with other brain malformations-5. Two transcript
            variants encoding distinct isoforms have been found for this gene.
            [provided by RefSeq, Jul 2015].
            
            Transcript Variant: This variant (1) encodes the longer 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 :: SRR1803616.53490.1,
                                           SRR3476690.1019106.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2154405, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333628.4/ ENSP00000369703.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-18                AL031963.40        119921-119938       c
            19-644              X79535.1           1-626
            645-1607            AL031963.40        116069-117031       c
            1608-1616           AL038778.2         224-232
FEATURES             Location/Qualifiers
     source          1..1616
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p25.2"
     gene            1..1616
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="tubulin beta 2A class IIa"
                     /db_xref="GeneID:7280"
                     /db_xref="HGNC:HGNC:12412"
                     /db_xref="MIM:615101"
     exon            1..138
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /inference="alignment:Splign:2.1.0"
     exon            139..247
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /inference="alignment:Splign:2.1.0"
     exon            248..358
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /inference="alignment:Splign:2.1.0"
     exon            359..1616
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1594..1599
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="hexamer: AATAAA"
     polyA_site      1616
                     /gene="TUBB2A"
                     /gene_synonym="CDCBM5; TUBB; TUBB2"
                     /note="major polyA site"
ORIGIN      
        1 aggtctctgc gcagcccagc ccgccggtcc acgccgcgca ccgctccgag ggccagcgcc
       61 acccgctccg cagccggcac catgcgcgag atcgtgcaca tccaggcggg ccagtgcggc
      121 aaccagatcg gcgccaagtt ttgggaggtc atcagcgatg agcatgggat cgaccccaca
      181 ggcagttacc atggagacag tgacttgcag ctggagagaa tcaacgtgta ctacaatgag
      241 gctgctggta acaaatatgt acctcgggcc atcctggtgg atctggagcc tggcaccatg
      301 gactctgtca ggtctggacc cttcggccag atcttcagac cagacaactt cgtgttcggc
      361 cagagtggag ccgggaataa ctgggccaag ggccactaca cagagggagc cgagctggtc
      421 gactcggtcc tggatgtggt gaggaaggag tcagagagct gtgactgtct ccagggcttc
      481 cagctgaccc actctctggg gggcggcacg gggtccggga tgggcaccct gctcatcagc
      541 aagatccggg aagagtaccc agaccgcatc atgaacacct tcagcgtcat gccctcaccc
      601 aaggtgtcag acacggtggt ggagccctac aacgccaccc tctctgtcca ccagctggtg
      661 gaaaacacag atgaaaccta ctccattgat aacgaggccc tgtatgacat ctgcttccgc
      721 accctgaagc tgaccacccc cacctacggg gacctcaacc acctggtgtc ggccaccatg
      781 agcggggtca ccacctgcct gcgcttcccg ggccagctga acgcagacct gcgcaagctg
      841 gcggtgaaca tggtgccctt ccctcgcctg cacttcttca tgcccggctt cgcgcccctg
      901 accagccggg gcagccagca gtaccgggcg ctcacggtgc ccgagctcac ccagcagatg
      961 ttcgactcca agaacatgat ggccgcctgc gacccgcgcc acggccgcta cctgacggtg
     1021 gctgccatct tccggggccg catgtccatg aaggaggtgg acgagcagat gctcaacgtg
     1081 cagaacaaga acagcagcta cttcgtggag tggatcccca acaacgtgaa gacggccgtg
     1141 tgcgacatcc cgccccgcgg cctgaagatg tcggccacct tcatcggcaa cagcacggcc
     1201 atccaggagc tgttcaagcg catctccgag cagttcacgg ccatgttccg gcgcaaggcc
     1261 ttcctgcact ggtacacggg cgagggcatg gacgagatgg agttcaccga ggccgagagc
     1321 aacatgaacg acctggtgtc cgagtaccag cagtaccagg acgccacggc cgacgaacaa
     1381 ggggagttcg aggaggagga gggcgaggac gaggcttaaa aacttctcag atcaatcgtg
     1441 catccttagt gaacttctgt tgtcctcaag catggtcttt ctacttgtaa actatggtgc
     1501 tcagttttgc ctctgttaga aattcacact gttgatgtaa tgatgtggaa ctcctctaaa
     1561 aattacagta ttgtctgtga aggtatctat actaataaaa aagcatgtgt agaaaa
//
