LOCUS       NM_012453               4344 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens transducin beta like 2 (TBL2), transcript variant 1,
            mRNA.
ACCESSION   NM_012453
VERSION     NM_012453.4
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 4344)
  AUTHORS   Kosai,K., Masuda,T., Kitagawa,A., Tobo,T., Ono,Y., Ando,Y.,
            Takahashi,J., Haratake,N., Kohno,M., Takenaka,T., Yoshizumi,T. and
            Mimori,K.
  TITLE     Transducin Beta-Like 2 is a Potential Driver Gene that Adapts to
            Endoplasmic Reticulum Stress to Promote Tumor Growth of Lung
            Adenocarcinoma
  JOURNAL   Ann Surg Oncol 30 (12), 7538-7548 (2023)
   PUBMED   37477745
  REMARK    GeneRIF: Transducin Beta-Like 2 is a Potential Driver Gene that
            Adapts to Endoplasmic Reticulum Stress to Promote Tumor Growth of
            Lung Adenocarcinoma.
REFERENCE   2  (bases 1 to 4344)
  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   3  (bases 1 to 4344)
  AUTHORS   Li,Y., Liu,S., Wang,Y.T., Min,H., Adi,D., Li,X.M., Yang,Y.N.,
            Fu,Z.Y. and Ma,Y.T.
  TITLE     TBL2 methylation is associated with hyper-low-density lipoprotein
            cholesterolemia: a case-control study
  JOURNAL   Lipids Health Dis 19 (1), 186 (2020)
   PUBMED   32811528
  REMARK    GeneRIF: TBL2 methylation is associated with hyper-low-density
            lipoprotein cholesterolemia: a case-control study.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4344)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 4344)
  AUTHORS   Tsukumo,Y., Tsukahara,S., Furuno,A., Iemura,S., Natsume,T. and
            Tomida,A.
  TITLE     TBL2 Associates With ATF4 mRNA Via Its WD40 Domain and Regulates
            Its Translation During ER Stress
  JOURNAL   J Cell Biochem 117 (2), 500-509 (2016)
   PUBMED   26239904
  REMARK    GeneRIF: TBL2 participates in ATF4 translation through its
            association with the mRNA.
REFERENCE   6  (bases 1 to 4344)
  AUTHORS   Willer,C.J., Sanna,S., Jackson,A.U., Scuteri,A., Bonnycastle,L.L.,
            Clarke,R., Heath,S.C., Timpson,N.J., Najjar,S.S., Stringham,H.M.,
            Strait,J., Duren,W.L., Maschio,A., Busonero,F., Mulas,A., Albai,G.,
            Swift,A.J., Morken,M.A., Narisu,N., Bennett,D., Parish,S., Shen,H.,
            Galan,P., Meneton,P., Hercberg,S., Zelenika,D., Chen,W.M., Li,Y.,
            Scott,L.J., Scheet,P.A., Sundvall,J., Watanabe,R.M., Nagaraja,R.,
            Ebrahim,S., Lawlor,D.A., Ben-Shlomo,Y., Davey-Smith,G.,
            Shuldiner,A.R., Collins,R., Bergman,R.N., Uda,M., Tuomilehto,J.,
            Cao,A., Collins,F.S., Lakatta,E., Lathrop,G.M., Boehnke,M.,
            Schlessinger,D., Mohlke,K.L. and Abecasis,G.R.
  TITLE     Newly identified loci that influence lipid concentrations and risk
            of coronary artery disease
  JOURNAL   Nat Genet 40 (2), 161-169 (2008)
   PUBMED   18193043
REFERENCE   7  (bases 1 to 4344)
  AUTHORS   Antonell,A., de Luis,O., Domingo-Roura,X. and Perez-Jurado,L.A.
  TITLE     Evolutionary mechanisms shaping the genomic structure of the
            Williams-Beuren syndrome chromosomal region at human 7q11.23
  JOURNAL   Genome Res 15 (9), 1179-1188 (2005)
   PUBMED   16140988
REFERENCE   8  (bases 1 to 4344)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   9  (bases 1 to 4344)
  AUTHORS   Perez Jurado,L.A., Wang,Y.K., Francke,U. and Cruces,J.
  TITLE     TBL2, a novel transducin family member in the WBS deletion:
            characterization of the complete sequence, genomic structure,
            transcriptional variants and the mouse ortholog
  JOURNAL   Cytogenet Cell Genet 86 (3-4), 277-284 (1999)
   PUBMED   10575226
REFERENCE   10 (bases 1 to 4344)
  AUTHORS   Meng,X., Lu,X., Li,Z., Green,E.D., Massa,H., Trask,B.J.,
            Morris,C.A. and Keating,M.T.
  TITLE     Complete physical map of the common deletion region in Williams
            syndrome and identification and characterization of three novel
            genes
  JOURNAL   Hum Genet 103 (5), 590-599 (1998)
   PUBMED   9860302
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL080162.1, AC005089.3 and
            BQ025092.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_012453.3.
            
            Summary: This gene encodes a member of the beta-transducin protein
            family. Most proteins of the beta-transducin family are involved in
            regulatory functions. This protein is possibly involved in some
            intracellular signaling pathway. This gene is deleted in
            Williams-Beuren syndrome, a developmental disorder caused by
            deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul
            2008].
            
            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 :: SRR1803611.81669.1,
                                           SRR1803614.178434.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305632.11/ ENSP00000307260.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1430              AL080162.1         65-1494
            1431-2329           AC005089.3         75490-76388
            2330-2937           BQ025092.1         14-621              c
            2938-4344           AC005089.3         76997-78403
FEATURES             Location/Qualifiers
     source          1..4344
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..4344
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /note="transducin beta like 2"
                     /db_xref="GeneID:26608"
                     /db_xref="HGNC:HGNC:11586"
                     /db_xref="MIM:605842"
     exon            1..160
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..1374
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     Williams-Beuren syndrome chromosome region 13; WS
                     beta-transducin repeats protein; transducin -like 2;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="transducin beta-like protein 2 isoform 1"
                     /protein_id="NP_036585.1"
                     /db_xref="CCDS:CCDS5551.1"
                     /db_xref="GeneID:26608"
                     /db_xref="HGNC:HGNC:11586"
                     /db_xref="MIM:605842"
                     /translation="MELSQMSELMGLSVLLGLLALMATAAVARGWLRAGEERSGRPAC
                     QKANGFPPDKSSGSKKQKQYQRIRKEKPQQHNFTHRLLAAALKSHSGNISCMDFSSNG
                     KYLATCADDRTIRIWSTKDFLQREHRSMRANVELDHATLVRFSPDCRAFIVWLANGDT
                     LRVFKMTKREDGGYTFTATPEDFPKKHKAPVIDIGIANTGKFIMTASSDTTVLIWSLK
                     GQVLSTINTNQMNNTHAAVSPCGRFVASCGFTPDVKVWEVCFGKKGEFQEVVRAFELK
                     GHSAAVHSFAFSNDSRRMASVSKDGTWKLWDTDVEYKKKQDPYLLKTGRFEEAAGAAP
                     CRLALSPNAQVLALASGSSIHLYNTRRGEKEECFERVHGECIANLSFDITGRFLASCG
                     DRAVRLFHNTPGHRAMVEEMQGHLKRASNESTRQRLQQQLTQAQETLKSLGALKK"
     exon            161..291
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /inference="alignment:Splign:2.1.0"
     exon            292..476
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /inference="alignment:Splign:2.1.0"
     exon            477..628
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /inference="alignment:Splign:2.1.0"
     exon            629..755
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /inference="alignment:Splign:2.1.0"
     exon            756..908
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /inference="alignment:Splign:2.1.0"
     exon            909..4344
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2189..2194
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /note="hexamer: AATAAA"
     polyA_site      2212
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /note="major polyA site"
     regulatory      2904..2909
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /note="hexamer: AATAAA"
     polyA_site      2937
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
     regulatory      4054..4059
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
                     /note="hexamer: AATGAA"
     polyA_site      4069
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
     polyA_site      4344
                     /gene="TBL2"
                     /gene_synonym="WBSCR13; WS-betaTRP"
ORIGIN      
        1 actagctgag gtggcagtgg ttccaccaac atggagctct cgcagatgtc ggagctcatg
       61 gggctgtcgg tgttgcttgg gctgctggcc ctgatggcga cggcggcggt agcgcggggg
      121 tggctgcgcg cgggggagga gaggagcggc cggcccgcct gccaaaaagc aaatggattt
      181 ccacctgaca aatcttcggg atccaagaag cagaaacaat atcagcggat tcggaaggag
      241 aagcctcaac aacacaactt cacccaccgc ctcctggctg cagctctgaa gagccacagc
      301 gggaacatat cttgcatgga ctttagcagc aatggcaaat acctggctac ctgtgcagat
      361 gatcgcacca tccgcatctg gagcaccaag gacttcctgc agcgagagca ccgcagcatg
      421 agagccaacg tggagctgga ccacgccacc ctggtgcgct tcagccctga ctgcagagcc
      481 ttcatcgtct ggctggccaa cggggacacc ctccgtgtct tcaagatgac caagcgggag
      541 gatgggggct acaccttcac agccacccca gaggacttcc ctaaaaagca caaggcgcct
      601 gtcatcgaca ttggcattgc taacacaggg aagtttatca tgactgcctc cagtgacacc
      661 actgtcctca tctggagcct gaagggtcaa gtgctgtcta ccatcaacac caaccagatg
      721 aacaacacac acgctgctgt atctccctgt ggcagatttg tagcctcgtg tggcttcacc
      781 ccagatgtga aggtttggga agtctgcttt ggaaagaagg gggagttcca ggaggtggtg
      841 cgagccttcg aactaaaggg ccactccgcg gctgtgcact cgtttgcttt ctccaacgac
      901 tcacggagga tggcttctgt ctccaaggat ggtacatgga aactgtggga cacagatgtg
      961 gaatacaaga agaagcagga cccctacttg ctgaagacag gccgctttga agaggcggcg
     1021 ggtgccgcgc cgtgccgcct ggccctctcc cccaacgccc aggtcttggc cttggccagt
     1081 ggcagtagta ttcatctcta caatacccgg cggggcgaga aggaggagtg ctttgagcgg
     1141 gtccatggcg agtgtatcgc caacttgtcc tttgacatca ctggccgctt tctggcctcc
     1201 tgtggggacc gggcggtgcg gctgtttcac aacactcctg gccaccgagc catggtggag
     1261 gagatgcagg gccacctgaa gcgggcctcc aacgagagca cccgccagag gctgcagcag
     1321 cagctgaccc aggcccaaga gaccctgaag agcctgggtg ccctgaagaa gtgactctgg
     1381 gagggcccgg cgcagaggat tgaggaggag ggatctggcc tcctcatggc actgctgcca
     1441 tctttcctcc caggtggaag cctttcagaa ggagtctcct ggttttctta ctggtggccc
     1501 tgcttcttcc cattgaaact actcttgtct acttaggtct ctctcttctt gctggctgtg
     1561 actcctccct gactagtggc caaggtgctt ttcttcctcc caggcccagt gggtggaatc
     1621 tgtccccacc tggcactgag gagaatggta gagaggagag gagagagaga gagaatgtga
     1681 tttttggcct tgtggcagca catcctcaca cccaaagaag tttgtaaatg ttccagaaca
     1741 acctagagaa cacctgagta ctaagcagca gttttgcaag gatgggagac tgggatagct
     1801 tcccatcaca gaactgtgtt ccatcaaaaa gacactaagg gatttccttc tgggcctcag
     1861 ttctatttgt aagatggaga ataatcctct ctgtgaactc cttgcaaaga tgatatgagg
     1921 ctaagagaat atcaagtccc caggtctgga agaaaagtag aaaagagtag tactattgtc
     1981 caatgtcatg aaagtggtaa aagtgggaac cagtgtgctt tgaaaccaaa ttagaaacac
     2041 attccttggg aaggcaaagt tttctgggac ttgatcatac attttatatg gttgggactt
     2101 ctctcttcgg gagatgatat cttgtttaag gagacctctt ttcagttcat caagttcatc
     2161 agatatttga gtgcccactc tgtgcccaaa taaatatgag ctggggatta aatacgaata
     2221 agacatggtt tctgccatca aagatggctg gtgggagaga gagatacacc cttattaagt
     2281 gctttgtgtt agtttattca tagctattgt tatatatgtc aaggcaagag aggaccagag
     2341 caggacagag gcaatgggta ttgaagttga aggggtacat ttgataagag agtcggtatt
     2401 gagaagttta aatttgtgaa tttgaaggct gcgtgggtgt ggcaggtaag ggaaatgagg
     2461 tatctgggaa ggcttgagtg taggcaaatt tattcatccc aagtcaaact cttgatctct
     2521 ctcacgaaaa ctatgacccc ccctggttgc ccctgacctc tcaatgttgg aacaagccac
     2581 aaccgtggag ttatccttga tgactcccca ttcattatcc cttctgtccc accaccacag
     2641 ctgtcatctg ttcaccagaa cgttcttttg gttacactcc atgtgacatc ctgaggctgt
     2701 tgcttctctc cagcttttct gttaccatcc tggtcctggc tactgtcacc tagtgggcca
     2761 ctataatatg gcttcctaat ggatcttcct gcttcctctg ttgcctcatt acttttctat
     2821 atagcagaat gatcttttga aaatgtgaac cagatcacat tattccctag ttaaaacccc
     2881 ccaaggcttc ccatcacact tggaataaaa tccaaaagaa tttttctaaa ccaaaaatag
     2941 taaaaacaat tttttttttc tgacaatctc ttgtcaccca ggctggagta caatggcgca
     3001 atctcggctc actgcaaccg ccgcctccta ggttcaagcg attctcctgc ctcagcctcc
     3061 agagtagctg ggattacagg catgtgccac cacgcctggc taatttttgt atttttagta
     3121 gagacagggt ttcacgatgt tggccaggct gctctcgaac tcctgacctc aaatgatcca
     3181 ccacccccct tggcctcccc aagtgctggg attacaggtg tgagccatcg tgcctagcta
     3241 aaaacactta atccaaaatt cttaccatgg cctgcaaggt cctgtgtaac ctggcttcgt
     3301 cccccctcta aatgctatga atgtcagatg ggcaccgtaa atgtgtgaag ggtcagttac
     3361 ctgggtgtaa ggcagtagaa ggtggggaca gaagtgagct ggagggcggg cttgtgtcct
     3421 gcctgcagga tggggggtgg ctgctactta ttcaggaatc cagcagaaat tgcttcacag
     3481 aagctagaag tgagcaactt aaataactaa acactatctg gaccaaacaa aacactaagg
     3541 tcggcccgat gcagtccact actctcttat tggcagcttc tggctcactg ttgaacccac
     3601 tggaatgaga gcaccaccgg gcagactcct ggaccatccc actgtcagct ctgtggtcca
     3661 ggcacagtac ctgggacagt gtaagcactc aatgtgaaac tcaagccagg ggcaagccac
     3721 agacctccca gtatcttctc cgcgcatctt cccactccca gtctccattg tggttttgta
     3781 tgttcctaac cacagacttt tggcaatgct gtgcacacaa ggcctgagga gtatttcctt
     3841 ggcaattgtc agaagaatga gactaaaaca cttcctttgc gcacctgttc ttagaagcag
     3901 ctctggcatt actcccgttg tgtatccagg acaggaagtg gcagtagaat gttgagttac
     3961 tgaagtcaga tgtcttcagt tccagttcca gctggagagc agatagtagg tccgttgacc
     4021 tctctgagct tgtttcctca gctgcaaaat aagaatgaat cctgtgctac ccaccttgcc
     4081 atgttgtgtt tcagtgagac gagaaaacac taccaaaaag tcattccaca gacttctgag
     4141 gacagaaagt gccctcactc aagcttctct tgtaaccaca gagaaggtgt ctggatatta
     4201 acatagagca gaggccacca aggtttttct tttttttaat caaaaatcct gcatgtgaag
     4261 gcagtaattg tatcttaata ttataatttc aacatctgtg ggtgtgaaat ttttcaaaaa
     4321 aaaaatttgg ggaaatattt taaa
//
