LOCUS       NM_001350175            2448 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens ataxin 7 like 2 (ATXN7L2), transcript variant 1, mRNA.
ACCESSION   NM_001350175 XM_005270446
VERSION     NM_001350175.2
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 2448)
  AUTHORS   Shi,J., Potash,J.B., Knowles,J.A., Weissman,M.M., Coryell,W.,
            Scheftner,W.A., Lawson,W.B., DePaulo,J.R. Jr., Gejman,P.V.,
            Sanders,A.R., Johnson,J.K., Adams,P., Chaudhury,S., Jancic,D.,
            Evgrafov,O., Zvinyatskovskiy,A., Ertman,N., Gladis,M., Neimanas,K.,
            Goodell,M., Hale,N., Ney,N., Verma,R., Mirel,D., Holmans,P. and
            Levinson,D.F.
  TITLE     Genome-wide association study of recurrent early-onset major
            depressive disorder
  JOURNAL   Mol Psychiatry 16 (2), 193-201 (2011)
   PUBMED   20125088
REFERENCE   2  (bases 1 to 2448)
  AUTHORS   Kottgen,A., Pattaro,C., Boger,C.A., Fuchsberger,C., Olden,M.,
            Glazer,N.L., Parsa,A., Gao,X., Yang,Q., Smith,A.V., O'Connell,J.R.,
            Li,M., Schmidt,H., Tanaka,T., Isaacs,A., Ketkar,S., Hwang,S.J.,
            Johnson,A.D., Dehghan,A., Teumer,A., Pare,G., Atkinson,E.J.,
            Zeller,T., Lohman,K., Cornelis,M.C., Probst-Hensch,N.M.,
            Kronenberg,F., Tonjes,A., Hayward,C., Aspelund,T., Eiriksdottir,G.,
            Launer,L.J., Harris,T.B., Rampersaud,E., Mitchell,B.D.,
            Arking,D.E., Boerwinkle,E., Struchalin,M., Cavalieri,M.,
            Singleton,A., Giallauria,F., Metter,J., de Boer,I.H.,
            Haritunians,T., Lumley,T., Siscovick,D., Psaty,B.M.,
            Zillikens,M.C., Oostra,B.A., Feitosa,M., Province,M., de
            Andrade,M., Turner,S.T., Schillert,A., Ziegler,A., Wild,P.S.,
            Schnabel,R.B., Wilde,S., Munzel,T.F., Leak,T.S., Illig,T.,
            Klopp,N., Meisinger,C., Wichmann,H.E., Koenig,W., Zgaga,L.,
            Zemunik,T., Kolcic,I., Minelli,C., Hu,F.B., Johansson,A., Igl,W.,
            Zaboli,G., Wild,S.H., Wright,A.F., Campbell,H., Ellinghaus,D.,
            Schreiber,S., Aulchenko,Y.S., Felix,J.F., Rivadeneira,F.,
            Uitterlinden,A.G., Hofman,A., Imboden,M., Nitsch,D.,
            Brandstatter,A., Kollerits,B., Kedenko,L., Magi,R., Stumvoll,M.,
            Kovacs,P., Boban,M., Campbell,S., Endlich,K., Volzke,H.,
            Kroemer,H.K., Nauck,M., Volker,U., Polasek,O., Vitart,V.,
            Badola,S., Parker,A.N., Ridker,P.M., Kardia,S.L., Blankenberg,S.,
            Liu,Y., Curhan,G.C., Franke,A., Rochat,T., Paulweber,B.,
            Prokopenko,I., Wang,W., Gudnason,V., Shuldiner,A.R., Coresh,J.,
            Schmidt,R., Ferrucci,L., Shlipak,M.G., van Duijn,C.M., Borecki,I.,
            Kramer,B.K., Rudan,I., Gyllensten,U., Wilson,J.F., Witteman,J.C.,
            Pramstaller,P.P., Rettig,R., Hastie,N., Chasman,D.I., Kao,W.H.,
            Heid,I.M. and Fox,C.S.
  TITLE     New loci associated with kidney function and chronic kidney disease
  JOURNAL   Nat Genet 42 (5), 376-384 (2010)
   PUBMED   20383146
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355145.31.
            
            On Jun 23, 2020 this sequence version replaced NM_001350175.1.
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2170282.1,
                                           SRR14038197.703495.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000683729.1/ ENSP00000507259.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-176               AL355145.31        11962-12137
            177-242             AL355145.31        14114-14179
            243-347             AL355145.31        14563-14667
            348-558             AL355145.31        15064-15274
            559-845             AL355145.31        15575-15861
            846-928             AL355145.31        16440-16522
            929-1182            AL355145.31        16904-17157
            1183-1381           AL355145.31        17987-18185
            1382-1503           AL355145.31        18328-18449
            1504-2299           AL355145.31        18979-19774
            2300-2448           AL355145.31        20643-20791
FEATURES             Location/Qualifiers
     source          1..2448
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.3"
     gene            1..2448
                     /gene="ATXN7L2"
                     /note="ataxin 7 like 2"
                     /db_xref="GeneID:127002"
                     /db_xref="HGNC:HGNC:28713"
     exon            1..176
                     /gene="ATXN7L2"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..2314
                     /gene="ATXN7L2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ataxin 7-like 1; ataxin-7-like protein 2"
                     /codon_start=1
                     /product="ataxin-7-like protein 2 isoform 1"
                     /protein_id="NP_001337104.1"
                     /db_xref="CCDS:CCDS91019.1"
                     /db_xref="GeneID:127002"
                     /db_xref="HGNC:HGNC:28713"
                     /translation="MAVRERAAAAMAALERRVPSLDDFAGQSWSSWVERADLPAADGA
                     ELEESSKNTKKLDAMTLIKEDMSIFGHCPAHDDFYLVVCNHCSQVVKPQAFQKHCERR
                     HGPLSKLYGRAPPPPPAPASSQKCHVVNGQGPACRAPGSTKTSSREKGQGSRSRGHQP
                     PEKTQKDNLCLFVPVVNLEKMSSLPKPDGHGIRVAPPSAFLSQPGGLTKDSPGKPPMA
                     PPSKEPPGRENIEIIPSEGSSHWAEGSPPEKEPSGTRLPPKTHRKMARKECDLNRQCG
                     VINPETKKICTRLLTCKIHSVHQRREVQGRAKDFDVLVAELKANSRKGESPKEKSPGR
                     KEQVLERPSQELPSSVQVVAAVAAPSSTFSVRAKQTYPYCALPRSRASSESELDDEGP
                     CGGDGDPGLFPFPMPRGGTQASSEESEEEGTSDDLHPPPDCHYATRPPRPQAFCTFGS
                     RLVSPGCYVFSRRLDRFCSALSSMLERHLSTHMWKKIPPAAEPPAHLVNSPLSAPLSP
                     SSTGTCPRLPGPTLRPACPASMPPTKDNLVPSYPAGSPSVAAACSQAECMGGSQAITS
                     PLPANTPSPSFSKLPPSKASKSSKGKDGVEVEAPSRKRKLSPGPTTLKRTCILEPTGK
                     GKPSGCRGLSAKTKTALSMGLNGTMGPRVKRAGPLDCRGSPHQLPTPVKASQLENRGA
                     AGHPAKALPTNCLSEEEVAKKRKNLATYCRPVKAKHCQAGAPADVACSVRRKKPGPAL
                     AFEEKCSTLKSKAH"
     exon            177..242
                     /gene="ATXN7L2"
                     /inference="alignment:Splign:2.1.0"
     exon            243..347
                     /gene="ATXN7L2"
                     /inference="alignment:Splign:2.1.0"
     exon            348..558
                     /gene="ATXN7L2"
                     /inference="alignment:Splign:2.1.0"
     exon            559..845
                     /gene="ATXN7L2"
                     /inference="alignment:Splign:2.1.0"
     exon            846..928
                     /gene="ATXN7L2"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1182
                     /gene="ATXN7L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1381
                     /gene="ATXN7L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1382..1503
                     /gene="ATXN7L2"
                     /inference="alignment:Splign:2.1.0"
     exon            1504..2299
                     /gene="ATXN7L2"
                     /inference="alignment:Splign:2.1.0"
     exon            2300..2448
                     /gene="ATXN7L2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2420..2425
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ATXN7L2"
                     /note="hexamer: AAGAAA"
     polyA_site      2448
                     /gene="ATXN7L2"
                     /note="major polyA site"
ORIGIN      
        1 gggggccgcg cggcggcggc gccagggcgg gcgcgcgtcc gcggcggtga tggcggtgcg
       61 tgaacgcgcg gcggcagcaa tggccgctct ggagcggcgg gtgccgagtc tcgatgactt
      121 cgcgggacag agctggagct cgtgggtgga gcgggccgac ctgcccgcgg ctgacggggc
      181 tgagctggag gagagtagca aaaacacgaa gaagttggat gccatgaccc tcattaaaga
      241 agacatgtcc atcttcgggc actgccctgc ccatgatgac ttctacttgg ttgtgtgtaa
      301 ccactgcagc caagtggtga agcctcaagc tttccagaag cactgcgaaa gaagacatgg
      361 gcccctcagc aagctttatg gccgggcccc acccccacct ccagcccctg ccagctctca
      421 gaaatgccat gtagtgaatg ggcagggccc agcttgtagg gccccaggtt ccacgaaaac
      481 ctcctccagg gagaagggcc aggggtcccg gagccgtggc caccagcctc ctgagaagac
      541 ccagaaggac aacctctgcc ttttcgtgcc tgtggtgaat ctggagaaga tgtccagtct
      601 cccgaagcct gatggacatg gaatcagggt ggccccaccc tctgcttttc tcagccagcc
      661 agggggcctc accaaggact cccctggaaa acctcccatg gctccccctt ctaaagaacc
      721 tcctggcaga gagaacatcg agatcatccc cagtgagggg tccagtcact gggctgaagg
      781 cagccctcct gaaaaggagc ccagtgggac caggctgccc cctaaaaccc accggaagat
      841 ggctcggaag gagtgcgacc tcaacaggca gtgtggggta ataaatccag agaccaaaaa
      901 gatctgtacc cgcctgttga cctgcaagat ccactcagta caccagcgcc gggaagtcca
      961 gggccgggcc aaggactttg acgtgctggt ggcagagctg aaggccaact cccgcaaagg
     1021 ggagtctccc aaggagaaga gcccagggcg caaggagcaa gttctcgagc gcccctccca
     1081 ggagctcccc tcctcagtcc aggttgtagc agcggtggct gctcccagca gcaccttctc
     1141 tgttcgtgcc aagcagacct acccatactg tgcactgccc aggtcccggg cctcctccga
     1201 gagtgaattg gatgatgaag gcccctgtgg tggtgatggg gacccaggcc tgttcccctt
     1261 ccccatgccc cggggtggga cccaggcctc cagcgaagag agtgaggagg aggggacatc
     1321 tgacgacctc cacccacccc ctgactgcca ttatgcaacc cggcccccac ggccacaggc
     1381 gttctgcacc tttgggagcc ggctggtgag cccaggatgc tatgtgttta gccgccggct
     1441 ggaccggttc tgctcagcac tcagctccat gctggaacgg cacctcagca cacacatgtg
     1501 gaagaagatc ccaccggcag ctgaacctcc agctcacctt gtcaactccc cgttatctgc
     1561 tcccctgagc ccatcctcta caggcacctg cccccgcctt ccaggtccaa ccctgagacc
     1621 tgcctgccca gcctccatgc cccccaccaa ggacaacctt gtccccagct accctgcagg
     1681 ctcccccagc gtggcggctg cctgtagcca ggcagagtgc atgggcggga gccaggctat
     1741 cacctcacca ctgcctgcca acacgccatc cccgtccttc agcaagctgc cgccttccaa
     1801 ggccagcaag tcatccaaag gcaaggacgg ggtggaggtg gaggcccctt ctcgaaagcg
     1861 gaagttatcc cctggcccta ccactcttaa acggacctgc atcctggagc ccactggaaa
     1921 agggaaaccc tctggctgta ggggcctctc ggccaaaact aaaacagccc tgagcatggg
     1981 gcttaatggg acaatggggc caagagtgaa gcgggcaggg cccctggact gtcgtggctc
     2041 ccctcatcag ctccccacac cagtcaaggc ttctcagctg gagaaccggg gagcagctgg
     2101 acacccagcc aaggccctgc caaccaactg cctctctgag gaggaggtgg ccaagaagcg
     2161 gaaaaacctg gccacttatt gccggccagt gaaggccaag cactgtcagg ctggtgcccc
     2221 tgctgatgtg gcctgctctg tgcgccgcaa gaagccaggc ccggccctgg cctttgagga
     2281 gaagtgctct acactgaagt caaaagccca ttaacgagaa agtgcctgcc cactgcaacg
     2341 gagccgccag cacctcctcc cctccagatc cgggccccag gctgctgccg ctttttataa
     2401 ctttatatta ttttttttta agaaaaaaag ctctttaaaa tacctcaa
//
