LOCUS       NM_016111               3314 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens telomere maintenance 2 (TELO2), transcript variant 1,
            mRNA.
ACCESSION   NM_016111
VERSION     NM_016111.4
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 3314)
  AUTHORS   Albokhari,D., Pritchard,A.B., Beil,A., Muss,C., Bupp,C.,
            Grange,D.K., Delplancq,G., Heeley,J., Zuteck,M., Morrow,M.M.,
            Kuentz,P., Palculict,T.B. and Hoover-Fong,J.E.
  TITLE     TELO2-related syndrome (You-Hoover-Fong syndrome): Description of
            14 new affected individuals and review of the literature
  JOURNAL   Am J Med Genet A 191 (5), 1261-1272 (2023)
   PUBMED   36797513
  REMARK    GeneRIF: TELO2-related syndrome (You-Hoover-Fong syndrome):
            Description of 14 new affected individuals and review of the
            literature.
            Review article
REFERENCE   2  (bases 1 to 3314)
  AUTHORS   Kim,Y., Park,J., Joo,S.Y., Kim,B.G., Jo,A., Lee,H. and Cho,Y.
  TITLE     Structure of the Human TELO2-TTI1-TTI2 Complex
  JOURNAL   J Mol Biol 434 (2), 167370 (2022)
   PUBMED   34838521
  REMARK    GeneRIF: Structure of the Human TELO2-TTI1-TTI2 Complex.
REFERENCE   3  (bases 1 to 3314)
  AUTHORS   Guo,Z., Zhang,X., Zhu,H., Zhong,N., Luo,X., Zhang,Y., Tu,F.,
            Zhong,J., Wang,X., He,J. and Huang,L.
  TITLE     TELO2 induced progression of colorectal cancer by binding with
            RICTOR through mTORC2
  JOURNAL   Oncol Rep 45 (2), 523-534 (2021)
   PUBMED   33416177
  REMARK    GeneRIF: TELO2 induced progression of colorectal cancer by binding
            with RICTOR through mTORC2.
REFERENCE   4  (bases 1 to 3314)
  AUTHORS   Ciaccio,C., Duga,V., Pantaleoni,C., Esposito,S., Moroni,I.,
            Pinelli,M., Castello,R., Nigro,V., Chiapparini,L. and D'Arrigo,S.
  CONSRTM   TUDP Study Group
  TITLE     Milder presentation of TELO2-related syndrome in two sisters
            homozygous for the p.Arg609His pathogenic variant
  JOURNAL   Eur J Med Genet 64 (1), 104116 (2021)
   PUBMED   33307281
  REMARK    GeneRIF: Milder presentation of TELO2-related syndrome in two
            sisters homozygous for the p.Arg609His pathogenic variant.
REFERENCE   5  (bases 1 to 3314)
  AUTHORS   Del-Prado-Sanchez,C., Armstrong-Moron,J., Veiga,C.,
            Grixolli-Mazzon,S., Garcia-Cazorla,A., Julia-Palacios,N. and
            Morales-Ballus,M.
  TITLE     Cataract in You-Hoover-Fong syndrome: TELO2 deficiency
  JOURNAL   Ophthalmic Genet 41 (6), 656-658 (2020)
   PUBMED   32940098
  REMARK    GeneRIF: Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.
REFERENCE   6  (bases 1 to 3314)
  AUTHORS   Izumi,N., Yamashita,A., Iwamatsu,A., Kurata,R., Nakamura,H.,
            Saari,B., Hirano,H., Anderson,P. and Ohno,S.
  TITLE     AAA+ proteins RUVBL1 and RUVBL2 coordinate PIKK activity and
            function in nonsense-mediated mRNA decay
  JOURNAL   Sci Signal 3 (116), ra27 (2010)
   PUBMED   20371770
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3314)
  AUTHORS   Collis,S.J., Ciccia,A., Deans,A.J., Horejsi,Z., Martin,J.S.,
            Maslen,S.L., Skehel,J.M., Elledge,S.J., West,S.C. and Boulton,S.J.
  TITLE     FANCM and FAAP24 function in ATR-mediated checkpoint signaling
            independently of the Fanconi anemia core complex
  JOURNAL   Mol Cell 32 (3), 313-324 (2008)
   PUBMED   18995830
REFERENCE   8  (bases 1 to 3314)
  AUTHORS   Takai,H., Wang,R.C., Takai,K.K., Yang,H. and de Lange,T.
  TITLE     Tel2 regulates the stability of PI3K-related protein kinases
  JOURNAL   Cell 131 (7), 1248-1259 (2007)
   PUBMED   18160036
REFERENCE   9  (bases 1 to 3314)
  AUTHORS   Collis,S.J., Barber,L.J., Clark,A.J., Martin,J.S., Ward,J.D. and
            Boulton,S.J.
  TITLE     HCLK2 is essential for the mammalian S-phase checkpoint and impacts
            on Chk1 stability
  JOURNAL   Nat Cell Biol 9 (4), 391-401 (2007)
   PUBMED   17384638
REFERENCE   10 (bases 1 to 3314)
  AUTHORS   Jiang,N., Benard,C.Y., Kebir,H., Shoubridge,E.A. and Hekimi,S.
  TITLE     Human CLK2 links cell cycle progression, apoptosis, and telomere
            length regulation
  JOURNAL   J Biol Chem 278 (24), 21678-21684 (2003)
   PUBMED   12670948
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB494123.1, BC017188.2 and
            AK302103.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016111.3.
            
            Summary: This gene encodes a protein that functions as an S-phase
            checkpoint protein in the cell cycle. The protein may also play a
            role in DNA repair.[provided by RefSeq, Mar 2009].
            
            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 :: AL080126.1, AB014583.3 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262319.11/ ENSP00000262319.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-235               DB494123.1         10-244
            236-718             BC017188.2         1-483
            719-719             AK302103.1         466-466
            720-3314            BC017188.2         485-3079
FEATURES             Location/Qualifiers
     source          1..3314
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..3314
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /note="telomere maintenance 2"
                     /db_xref="GeneID:9894"
                     /db_xref="HGNC:HGNC:29099"
                     /db_xref="MIM:611140"
     exon            1..246
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            247..617
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     CDS             283..2796
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /note="protein clk-2 homolog; TEL2, telomere maintenance
                     2, homolog"
                     /codon_start=1
                     /product="telomere length regulation protein TEL2 homolog"
                     /protein_id="NP_057195.2"
                     /db_xref="CCDS:CCDS32363.1"
                     /db_xref="GeneID:9894"
                     /db_xref="HGNC:HGNC:29099"
                     /db_xref="MIM:611140"
                     /translation="MEPAPSEVRLAVREAIHALSSSEDGGHIFCTLESLKRYLGEMEP
                     PALPREKEEFASAHFSPVLRCLASRLSPAWLELLPHGRLEELWASFFLEGPADQAFLV
                     LMETIEGAAGPSFRLMKMARLLARFLREGRLAVLMEAQCRQQTQPGFILLRETLLGKV
                     VALPDHLGNRLQQENLAEFFPQNYFRLLGEEVVRVLQAVVDSLQGGLDSSVSFVSQVL
                     GKACVHGRQQEILGVLVPRLAALTQGSYLHQRVCWRLVEQVPDRAMEAVLTGLVEAAL
                     GPEVLSRLLGNLVVKNKKAQFVMTQKLLFLQSRLTTPMLQSLLGHLAMDSQRRPLLLQ
                     VLKELLETWGSSSAIRHTPLPQQRHVSKAVLICLAQLGEPELRDSRDELLASMMAGVK
                     CRLDSSLPPVRRLGMIVAEVVSARIHPEGPPLKFQYEEDELSLELLALASPQPAGDGA
                     SEAGTSLVPATAEPPAETPAEIVDGGVPQAQLAGSDSDLDSDDEFVPYDMSGDRELKS
                     SKAPAYVRDCVEALTTSEDIERWEAALRALEGLVYRSPTATREVSVELAKVLLHLEEK
                     TCVVGFAGLRQRALVAVTVTDPAPVADYLTSQFYALNYSLRQRMDILDVLTLAAQELS
                     RPGCLGRTPQPGSPSPNTPCLPEAAVSQPGSAVASDWRVVVEERIRSKTQRLSKGGPR
                     QGPAGSPSRFNSVAGHFFFPLLQRFDRPLVTFDLLGEDQLVLGRLAHTLGALMCLAVN
                     TTVAVAMGKALLEFVWALRFHIDAYVRQGLLSAVSSVLLSLPAARLLEDLMDELLEAR
                     SWLADVAEKDPDEDCRTLALRALLLLQRLKNRLLPPASP"
     exon            618..895
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            896..964
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            965..1112
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1113..1215
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1216..1284
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1285..1426
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1427..1563
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1564..1643
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1644..1754
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1755..1843
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1844..1935
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..2052
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            2053..2124
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            2125..2316
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            2317..2408
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            2409..2508
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            2509..2573
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            2574..2689
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     exon            2690..3314
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3295..3300
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /note="hexamer: AATAAA"
     polyA_site      3314
                     /gene="TELO2"
                     /gene_synonym="CLK2; TEL2; YHFS"
                     /note="major polyA site"
ORIGIN      
        1 gcagatgcgc cctcccgcct ggcgtcctcc gcagattcgc gctgagaggc ccgcggagac
       61 ccgccccaga ggctcaagaa aacccgcggg agcctcgccc ggacccagga actcgtgctc
      121 ggggccaacc ggctgggccg cgatcgcgtt tcgtccgggg ccgcggcggc cgtggggaat
      181 cggctgcagc gaatcggtgg cgcgcggcgc ctgagcgcgc tgcagtcacc cgggagccgg
      241 gtccaggtcg tcttcccgtg acgcccagat ctgtcctgca ggatggagcc agcaccctca
      301 gaggttcgac tcgccgtccg ggaagccatt catgccctct cgtcttcgga ggatggcggc
      361 cacatcttct gcaccctgga gtccctgaag cggtatctcg gtgagatgga gcctccagcg
      421 ctcccgaggg agaaggagga gtttgcctcg gcccacttct cgcctgtcct cagatgtctt
      481 gccagcaggc tgagcccagc ctggctggag ctgctgcccc atggccgcct ggaggagctg
      541 tgggccagct tcttcctgga gggcccggcg gaccaagcct tcctggtgtt gatggagacc
      601 atcgagggtg ctgcgggccc cagcttccgg ctgatgaaga tggcgcggct gctggccaga
      661 ttcctgcgcg agggccggct ggcagtgctg atggaggcgc agtgtcggca gcagacgcag
      721 cccggcttca tcctgctccg ggagacgctg ctgggcaagg tggtggccct gcccgatcac
      781 ctgggcaacc gcctgcagca ggagaacttg gccgagttct tcccccagaa ctacttccgc
      841 ctgctcggcg aggaggtcgt ccgggtgctg caggcggttg tggactctct ccaaggtggc
      901 ctggattcct ccgtgtcctt cgtgtctcag gtccttggga aagcctgtgt ccacgggagg
      961 cagcaggaga tcctgggcgt gctggtaccc cggctggcag cgctcaccca gggcagctac
     1021 ctgcaccagc gcgtctgctg gcgcctggtg gagcaagtgc cggaccgggc catggaggct
     1081 gtgctgaccg ggctggtgga ggccgcactg gggcctgagg tcctttcgag actgctgggg
     1141 aacctggtgg tgaagaacaa gaaggcccag tttgtgatga cccagaagct tctgttctta
     1201 cagtcccggc tcacgacgcc catgctgcag agcctgctgg gccatctggc catggacagc
     1261 cagcggcgcc cgctcctgct gcaggtgctg aaggagctgt tggagacgtg gggcagcagc
     1321 agtgccatcc gccacactcc cctgccgcag cagcgccacg tcagcaaggc tgtcctcatc
     1381 tgcctggcgc aactcgggga gccggaactg cgggacagcc gggatgaact gctggccagc
     1441 atgatggcgg gcgtgaagtg ccgcctggac agtagcctgc cccccgtgcg acgcctgggc
     1501 atgatcgtgg cagaggtcgt tagtgcccgg atccaccccg aggggcctcc cctgaaattc
     1561 cagtacgaag aggatgaact gagcctcgag ctgctggcct tggcctcccc ccagcctgcg
     1621 ggtgacggcg cctcggaggc gggcacgtcc ctcgttccag ccacggcaga gccccctgca
     1681 gagacccccg cagagatcgt ggatggcggc gtcccccaag cacagctggc gggctctgac
     1741 tcggacctgg acagcgatga tgagtttgtc ccctacgaca tgtcggggga cagagagctg
     1801 aagagcagca aggctcctgc ctacgtccgg gactgcgtgg aagccctgac cacgtctgag
     1861 gacatagagc gctgggaggc agccctgcgg gcccttgagg gcctggtcta caggagcccc
     1921 acagccactc gggaggtgag cgtggagctg gccaaggtgc ttctgcatct ggaggagaag
     1981 acctgtgtgg tgggatttgc agggctgcgc cagagagccc tggtggccgt cacggtcaca
     2041 gacccggccc cggtggccga ctatctgacc tcacagttct atgccctcaa ctacagcctc
     2101 cggcagcgca tggacatcct ggatgtgctg actctggctg cccaggagct gtctaggcct
     2161 gggtgcctcg ggaggactcc ccaacctggc tccccaagtc ccaacacccc gtgcctgcca
     2221 gaggcagccg tctctcagcc tggcagtgcc gtggcgtctg actggcgggt ggtggtggag
     2281 gagcggatca gaagcaagac ccagcggctc tccaagggtg gcccgaggca gggcccggca
     2341 ggcagcccca gcagattcaa ctccgtggcc ggccacttct tcttccccct ccttcagcgc
     2401 tttgacaggc ctctggtgac cttcgacctc ttgggagaag accagctggt tctcggaagg
     2461 ctggcgcaca ccttaggggc cctgatgtgc ctggctgtta acaccacggt ggctgtggcc
     2521 atgggcaagg ccctgctgga attcgtgtgg gcccttcgct tccacatcga tgcctacgtg
     2581 cgccaggggc tgttgtcggc cgtctcctcc gtcctgctca gcctgcctgc tgcgcgcctg
     2641 ctggaggacc tgatggacga gctgctggaa gcccggtcct ggctggcgga cgtggctgag
     2701 aaagacccgg acgaggactg caggacgctg gcactgaggg ccctgctgct tctgcagaga
     2761 ctcaagaaca ggctcctccc acccgcgtct ccctagtccc tggaggcctc cccaggacca
     2821 ccctcgccga cagcaaggca ggcggctgag cagcggcctg gagcagcaga gccaggcttt
     2881 gtagcgaggc caggtcttcg gccgcatccg gtacggagag tgcagatgca ggaaggcccg
     2941 gcctgccgct atttatagtg cagccagtcc gctaaaaata cactgggcct gggcactgcc
     3001 cgccgggaca tggcagcctg gacgtggggc tggggctgtg ggcgctgctg gcggggttga
     3061 ctcttccagt gagggcagaa ccaggctggc aggaggggag gacggtgtac ctgctgctca
     3121 gagcccccaa ggctctcctc tgagagccac caagcaggac agagcagctc ttgtcccagg
     3181 tccctcgggc tgagcgccgt gtcaccagga gaatagtgct cacagcccag gcagggtgtg
     3241 tggctcctgg atgggctcgt ggggcgggat gggacagggc acgggctctc agaaaataaa
     3301 ctgctttatt ggaa
//
