2024-05-08 12:14:42, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024875 4131 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 2, mRNA. ACCESSION NM_024875 VERSION NM_024875.3 GI:166706866 KEYWORDS RefSeq. 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 4131) AUTHORS Ellinor,P.T., Lunetta,K.L., Albert,C.M., Glazer,N.L., Ritchie,M.D., Smith,A.V., Arking,D.E., Muller-Nurasyid,M., Krijthe,B.P., Lubitz,S.A., Bis,J.C., Chung,M.K., Dorr,M., Ozaki,K., Roberts,J.D., Smith,J.G., Pfeufer,A., Sinner,M.F., Lohman,K., Ding,J., Smith,N.L., Smith,J.D., Rienstra,M., Rice,K.M., Van Wagoner,D.R., Magnani,J.W., Wakili,R., Clauss,S., Rotter,J.I., Steinbeck,G., Launer,L.J., Davies,R.W., Borkovich,M., Harris,T.B., Lin,H., Volker,U., Volzke,H., Milan,D.J., Hofman,A., Boerwinkle,E., Chen,L.Y., Soliman,E.Z., Voight,B.F., Li,G., Chakravarti,A., Kubo,M., Tedrow,U.B., Rose,L.M., Ridker,P.M., Conen,D., Tsunoda,T., Furukawa,T., Sotoodehnia,N., Xu,S., Kamatani,N., Levy,D., Nakamura,Y., Parvez,B., Mahida,S., Furie,K.L., Rosand,J., Muhammad,R., Psaty,B.M., Meitinger,T., Perz,S., Wichmann,H.E., Witteman,J.C., Kao,W.H., Kathiresan,S., Roden,D.M., Uitterlinden,A.G., Rivadeneira,F., McKnight,B., Sjogren,M., Newman,A.B., Liu,Y., Gollob,M.H., Melander,O., Tanaka,T., Stricker,B.H., Felix,S.B., Alonso,A., Darbar,D., Barnard,J., Chasman,D.I., Heckbert,S.R., Benjamin,E.J., Gudnason,V. and Kaab,S. TITLE Meta-analysis identifies six new susceptibility loci for atrial fibrillation JOURNAL Nat. Genet. 44 (6), 670-675 (2012) PUBMED 22544366 REMARK Publication Status: Online-Only REFERENCE 2 (bases 1 to 4131) AUTHORS Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S., Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M., Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G., Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J., Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L., Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A. TITLE A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease JOURNAL Am. J. Hum. Genet. 78 (1), 78-88 (2006) PUBMED 16385451 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (bases 1 to 4131) AUTHORS Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M., French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S., Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G., Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P., Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D., Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K., Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P., Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N., Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A., Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C., Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E., Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E., Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M., Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M., Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J., Lovell,J., McLaren,S., McLay,K.E., McMurray,A., Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T., Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I., Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A., Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D., Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A., Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J., Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L., Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C., Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R., Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J. TITLE The DNA sequence and comparative analysis of human chromosome 10 JOURNAL Nature 429 (6990), 375-381 (2004) PUBMED 15164054 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK022983.1, BC142635.1, AA176924.1 and AB188489.1. On Feb 1, 2008 this sequence version replaced gi:50301231. ##Evidence-Data-START## Transcript exon combination :: AK022983.1, BC142635.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025083, ERS025084 [ECO:0000348] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-8 AK022983.1 1-8 9-2699 BC142635.1 1-2691 2700-3088 AA176924.1 62-450 3089-4131 AB188489.1 3889-4931 FEATURES Location/Qualifiers source 1..4131 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10q22.2" gene 1..4131 /gene="SYNPO2L" /note="synaptopodin 2-like" /db_xref="GeneID:79933" /db_xref="HGNC:23532" /db_xref="HPRD:15457" exon 1..122 /gene="SYNPO2L" /inference="alignment:Splign:1.39.8" CDS 23..2284 /gene="SYNPO2L" /note="isoform b is encoded by transcript variant 2; synaptopodin 2-like protein" /codon_start=1 /product="synaptopodin 2-like protein isoform b" /protein_id="NP_079151.2" /db_xref="GI:50301232" /db_xref="CCDS:CCDS7331.1" /db_xref="GeneID:79933" /db_xref="HGNC:23532" /db_xref="HPRD:15457" /translation="
METFEPISQEPLSQASYDKAPDPVPELQDSFYAELQRAESLQEKSIKEAKTKCRTIASLLTAAPNPHSKGVLMFKKRRQRAKKYTLVSFGAAAGTGAEEEDGVPPTSESELDEEAFSDARSLTNQSDWDSPYLDMELARAGSRASEGQGSGLGGQLSEVSGRGVQLFEQQRQRADSSTQELARVEPAAMLNGEGLQSPPRAQSAPPEAAVLPPSPLPAPVASPRPFQPGGGAPTPAPSIFNRSARPFTPGLQGQRPTTTSVIFRPLAPKRANDSLGGLSPAPPPFLSSQGPTPLPSFTSGVPSHAPVSGSPSTPRSSGPVTATSSLYIPAPSRPVTPGGAPEPPAPPSAAAMTSTASIFLSAPLRPSARPEAPAPGPGAPEPPSAREQRISVPAARTGILQEARRRGTRKQMFRPGKEETKNSPNPELLSLVQNLDEKPRAGGAESGPEEDALSLGAEACNFMQPVGARSYKTLPHVTPKTPPPMAPKTPPPMTPKTPPPVAPKPPSRGLLDGLVNGAASSAGIPEPPRLQGRGGELFAKRQSRADRYVVEGTPGPGLGPRPRSPSPTPSLPPSWKYSPNIRAPPPIAYNPLLSPFFPQAARTLPKAQSQGPRATPKQGIKALDFMRHQPYQLKTAMFCFDEVPPTPGPIASGSPKTARVQEIRRFSTPAPQPTAEPLAPTVLAPRAATTLDEPIWRTELASAPVPSPAPPPEAPRGLGASPSSCGFQVARPRFSATRTGLQAHVWRPGAGHQ
" exon 123..4116 /gene="SYNPO2L" /inference="alignment:Splign:1.39.8" STS 2751..2845 /gene="SYNPO2L" /standard_name="D10S463" /db_xref="UniSTS:148059" STS 2759..2881 /gene="SYNPO2L" /standard_name="D10S188" /db_xref="UniSTS:48962" STS 2764..2859 /gene="SYNPO2L" /standard_name="D10S188" /db_xref="UniSTS:70051" STS 2937..3137 /gene="SYNPO2L" /standard_name="sY3084" /db_xref="UniSTS:515126" STS 3034..3136 /gene="SYNPO2L" /standard_name="D11S2921" /db_xref="UniSTS:152074" STS 3217..3346 /gene="SYNPO2L" /standard_name="RH102916" /db_xref="UniSTS:97250" variation 3443 /gene="SYNPO2L" /replace="a" /replace="g" /db_xref="dbSNP:1061859" STS 3758..3933 /gene="SYNPO2L" /standard_name="D10S1313E" /db_xref="UniSTS:151345" ORIGIN
agccaacaccgcctttctcagcatggagacctttgagcccatcagccaagagcccctcagccaagccagctatgacaaagccccagacccagttcctgagctccaagactcgttctatgcagaactgcaacgtgcagagagcctccaagagaagagcataaaagaggccaagaccaaatgcaggacaattgcatccctgctcactgcagcccccaacccccactccaaaggggtacttatgtttaagaaacggcggcagagagccaagaagtacaccctggtgagcttcggggctgctgctgggacaggcgctgaggaggaggacggcgttccccccacgagtgagtccgagctggacgaagaagccttctctgacgcccgcagcctcaccaatcaatctgactgggacagtccctatctggacatggagcttgccagggcgggctcaagagcatcagagggccagggctctgggctgggagggcagctgagtgaggtctctgggcgaggggtgcagctctttgaacagcagcgccagcgcgcagactccagcacccaggaactggcacgggtcgaaccagcagccatgctcaacggggaaggcctgcagtcaccacctcgggcccagagtgctcccccagaggcagctgtgctcccacccagccccttgccggcgcctgtagccagccccagacccttccaaccaggtggtggagccccgaccccagctccaagcatctttaaccggtcagccaggccctttaccccgggcctacaagggcagcggccaactaccacctcggttattttccggcctttagcccccaaaagggcgaacgacagcctggggggcctcagccccgccccaccccccttcttgtcttcgcaggggcccacccctctgcccagcttcacttcaggggttcccagccacgcgccagtctctggttcccccagcaccccacgctcctcgggccctgtgacagccaccagctccctgtacatcccagcccctagtcggcctgtcaccccaggtggagctccagagccccccgctcctcctagcgcagctgccatgacctccaccgcttctatcttcctatctgcgcctttgcgaccctctgcgcgcccagaggcgcctgccccaggcccaggggctcctgagccccccagcgctcgcgagcagcgcatctctgtgccagctgcccgcacgggtatcctgcaggaggcccggcgccgggggacccggaagcagatgttccggccgggaaaggaggagacgaagaactcgcccaaccccgagctgctatcgctggtacagaacctggatgaaaagcctcgggccgggggtgcagaatctggtcctgaagaagatgctctgagcctcggggctgaagcctgcaacttcatgcagccagtaggggccaggagttacaagaccctgcctcacgtgacacctaagaccccccctccaatggctcccaagaccccgccccctatgactcctaagactccacccccagtggctcctaagcccccatctcgagggctccttgatgggctcgtgaatggggcagcctcttcggctggaatccctgagccaccaaggctgcagggcaggggtggggagctgtttgctaagcggcagagccgtgcggacaggtatgtggtggaaggtacacctggtcctggtcttggccctcggcctagaagtccttctcctaccccgtctctgcccccttcctggaaatattcacccaacatccgtgccccgcctcctattgcttacaacccactgctctctccctttttcccccaggcggcccgaactctccctaaggcccaatcccaggggcctcgggcaacacccaagcagggcatcaaggctctagattttatgcggcatcagccctatcaacttaaaactgccatgttctgttttgatgaggttcccccgactcctggccctatcgcctcagggtcccccaaaactgcccgagtccaggagattcgccggttttccactccggcaccccagcccactgcagaacccctggctcccactgtgcttgccccccgagcagccactacactggatgagcccatctggagaacagaactggcctcagcccctgttcctagcccagcccctcctccagaggctcccaggggccttggggcttctcccagctcctgcggtttccaggtagccaggccccgattttcagccaccagaacaggattgcaagctcatgtgtggaggcctggggcagggcaccagtgaacaggcacaggtcccaggaccaaggagaggtggaacatccagttcctaaagttgcttctcctaccctatcccatcccctgtcacgcatctggaagctaaattgcctcctgccagagatggtttccaagttgatgtccccttcccccaccttcctcctcactctctacctccctgccgctttccaaccaagtatgtctgctttggtatctttgcctctctttgtctctgcatttcctttcctggatctctgtctttatttccaggcttctccacccatattcctccacagatctctcttccttgacatttgtgcttttctccctgggcctcattttaatgttcagtgagaagtaaacagagcagaagtgaccactgggacttcaggcaagaagctcaccaccaggcacacagcaaagggactgaactgacccctgtttgcactaagccacccccaccccccactctgctttcccaagcttgactggcatatacctaggcctgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgctcttccgtctaaggcatgaataagaggggaggtcaaaataaagacccaatctgaggccgggcacggtggctcacgccggtaatcccagcactttgggaggccgaggcgggcggatcacgaggtcaggagatcgagaccatcctggctaacacggtgaaaccccatttccactaaaaatacaaaaaattagctgggcgtggtggcgagcgcctgtagtcccagctactcgggaggctgaggcaggagaatggcatgaacctggaaggcggagcttgcagtgagctgagattgcgccactgcactccagcctgggcgacggagcgagactctgtctcaaaacaaacaaacaaacaaaagacccaatctgagtcttatcgttgtactgatagaagggtcagatatccccacatggagttgagtgggagaaagagattcactagagaataactccttagagaccaatgtctgtagcaggtgtacagcatcttgtgaaagttatggagcatgaaaagactgaagggccaggacagtttgcatgggctgagttataccagctagaccaggaatagaacaaagaattctatacctcaggatttcaaaaagttagcaacttgagaggccagtgctgagcaacccagtacccaggaaatgaaaaaaagaaagaaaattccctccgagaatgaacaaatcattggcttcattgcctcatgagcttgagagaaaggagaagagagccagagtgtggcaagtgaggccaaaatcagaagcatggcagaaatgagtgtaagtgattgagccacagacagaagtgtggcgagggacaatgccatattgggagaaggtaaagttgagtaacaagaaaccaaccgtgtgtgagagggggattggaaaaaaatttgagggagaagaatgttagaatggaagggaatgatggtggaagggaggtgtgagggtgtgtgctgagtgttgaaagaacggttggtgtctgtgtgattttccttgagtctgttcttcagtgtgtcttctgcagcttgccatgactgcctgggaaagagtagggaaatacccagagccaaaacctcctttcagtcccaccccatccctcaaaaccccagctattgcttcttttcagcttcaggtcctgatctccaatcttagtatggactcccttctcaccaagaccaccaccagctacgtttgctgtgtaatctggaaagtgataatttcctttgcttgttgggtgtgagtcacaatactttggtttgtgcacaagaataaatttatgccccataaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:79933 -> Molecular function: GO:0003779 [actin binding] evidence: IEA GeneID:79933 -> Cellular component: GO:0005634 [nucleus] evidence: IEA GeneID:79933 -> Cellular component: GO:0005856 [cytoskeleton] evidence: IEA GeneID:79933 -> Cellular component: GO:0030018 [Z disc] evidence: IEA
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