LOCUS Y08262 4163 bp mRNA linear HUM 18-APR-2005 DEFINITION H.sapiens mRNA for SCA2 protein. ACCESSION Y08262 VERSION Y08262.1 KEYWORDS SCA2 gene. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 AUTHORS Imbert G., Saudou F., Yvert G., Devys D., Trottier Y., Garnier J.M., Weber C., Mandel J.L., Cancel G., Abbas N., Duerr A., Didierjean O., Stevanin G., Agid Y., Brice A. TITLE Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats JOURNAL Nat Genet 14(3), 285-291(1996). PUBMED 8896557 REFERENCE 2 (bases 1 to 4163) AUTHORS Imbert G. JOURNAL Submitted (20-SEP-1996) to the INSDC. G. Imbert, I.G.B.M.C., Departement Of Genetics, B.P. 163, 67404 Illkirch Cedex, FRANCE FEATURES Location/Qualifiers source 1..4163 /db_xref="H-InvDB:HIT000325426" /organism="Homo sapiens" /isolate="DAN patient" /mol_type="mRNA" /dev_stage="adult" /clone_lib="DAN" /cell_line="lymphoblastoid" /db_xref="taxon:9606" CDS <1..2747 /codon_start=3 /gene="SCA2" /db_xref="GOA:Q99700" /db_xref="H-InvDB:HIT000325426.14" /db_xref="HGNC:HGNC:10555" /db_xref="InterPro:IPR009604" /db_xref="InterPro:IPR009818" /db_xref="InterPro:IPR010920" /db_xref="InterPro:IPR025852" /db_xref="InterPro:IPR033093" /db_xref="PDB:3KTR" /db_xref="UniProtKB/Swiss-Prot:Q99700" /protein_id="CAA69589.1" /translation="GNGGGAFRPGSRRLLGLGGPPRPFVVVLLPLASPGAPPAAPTRA SPLGARASPPRSGVSLARPAPGCPRPACEPVYGPLTMSLKPQQQQQQQQQQQQQQQQQ QQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSSVVAATSGGGRPG LGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKCEVQVKNGGIYEGVFKTYSP KCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSA ISAKVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTY DSSLSSYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEEKYTA VQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSH TSDFNPNSGSDQRVVNGGVPWPSPCPSPSSRPPSRYQSGPNSLPPRAATPTRPPSRPP SRPSRPPSHPSAHGSPAPVSTMPKRMSSEGPPRMSPKAQRHPRNHRVSAGRGSISSGL EFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGP VLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNK ENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRLQPSSTSESMDQLLNK NREGEKSRDLIKDKIEPSAKDSFIENSSSNCTSGSSKPNSPSISPSILSNTEHKRGPE VTSQGVQTSSPACKQEKDDKEEKKDAAEQVRKSTLNPNAKEFNPRSFSQPKPSTTPTS PRPQAQPSPSMVGHQQPTPVYTQPVCFAPNMMYPVPVSPGVQYQICPNSGKTSIIRVP " BASE COUNT 1136 a 1196 c 908 g 923 t ORIGIN 1 acggcaacgg cggcggcgcg tttcggcccg gctcccggcg gctccttggt ctcggcgggc 61 ctccccgccc cttcgtcgtc gtccttctcc ccctcgccag cccgggcgcc cctccggccg 121 cgccaacccg cgcctccccg ctcggcgccc gtgcgtcccc gccgcgttcc ggcgtctcct 181 tggcgcgccc ggctcccggc tgtccccgcc cggcgtgcga gccggtgtat gggcccctca 241 ccatgtcgct gaagccccag cagcagcagc agcagcagca gcaacagcag cagcagcaac 301 agcagcagca gcagcagcag cagccgccgc ccgcggctgc caatgtccgc aagcccggcg 361 gcagcggcct tctagcgtcg cccgccgccg cgccttcgcc gtcctcgtcc tcggtctcct 421 cgtcctcggc cacggctccc tcctcggtgg tcgcggcgac ctccggcggc gggaggcccg 481 gcctgggcag aggtcgaaac agtaacaaag gactgcctca gtctacgatt tcttttgatg 541 gaatctatgc aaatatgagg atggttcata tacttacatc agttgttggc tccaaatgtg 601 aagtacaagt gaaaaatgga ggtatatatg aaggagtttt taaaacttac agtccgaagt 661 gtgatttggt acttgatgcc gcacatgaga aaagtacaga atccagttcg gggccgaaac 721 gtgaagaaat aatggagagt attttgttca aatgttcaga ctttgttgtg gtacagttta 781 aagatatgga ctccagttat gcaaaaagag atgcttttac tgactctgct atcagtgcta 841 aagtgaatgg cgaacacaaa gagaaggacc tggagccctg ggatgcaggt gaactcacag 901 ccaatgagga acttgaggct ttggaaaatg acgtatctaa tggatgggat cccaatgata 961 tgtttcgata taatgaagaa aattatggtg tagtgtctac gtatgatagc agtttatctt 1021 cgtatacagt gcccttagaa agagataact cagaagaatt tttaaaacgg gaagcaaggg 1081 caaaccagtt agcagaagaa attgagtcaa gtgcccagta caaagctcga gtggccctgg 1141 aaaatgatga taggagtgag gaagaaaaat acacagcagt tcagagaaat tccagtgaac 1201 gtgaggggca cagcataaac actagggaaa ataaatatat tcctcctgga caaagaaata 1261 gagaagtcat atcctgggga agtgggagac agaattcacc gcgtatgggc cagcctggat 1321 cgggctccat gccatcaaga tccacttctc acacttcaga tttcaacccg aattctggtt 1381 cagaccaaag agtagttaat ggaggtgttc cctggccatc gccttgccca tctccttcct 1441 ctcgcccacc ttctcgctac cagtcaggtc ccaactctct tccacctcgg gcagccaccc 1501 ctacacggcc gccctccagg cccccctcgc ggccatccag acccccgtct cacccctctg 1561 ctcatggttc tccagctcct gtctctacta tgcctaaacg catgtcttca gaagggcctc 1621 caaggatgtc cccaaaggcc cagcgacatc ctcgaaatca cagagtttct gctgggaggg 1681 gttccatatc cagtggccta gaatttgtat cccacaaccc acccagtgaa gcagctactc 1741 ctccagtagc aaggaccagt ccctcggggg gaacgtggtc atcagtggtc agtggggttc 1801 caagattatc ccctaaaact catagaccca ggtctcccag acagaacagt attggaaata 1861 cccccagtgg gccagttctt gcttctcccc aagctggtat tattccaact gaagctgttg 1921 ccatgcctat tccagctgca tctcctacgc ctgctagtcc tgcatcgaac agagctgtta 1981 ccccttctag tgaggctaaa gattccaggc ttcaagatca gaggcagaac tctcctgcag 2041 ggaataaaga aaatattaaa cccaatgaaa catcacctag cttctcaaaa gctgaaaaca 2101 aaggtatatc accagttgtt tctgaacata gaaaacagat tgatgattta aagaaattta 2161 agaatgattt taggttacag ccaagttcta cttctgaatc tatggatcaa ctactaaaca 2221 aaaatagaga gggagaaaaa tcaagagatt tgatcaaaga caaaattgaa ccaagtgcta 2281 aggattcttt cattgaaaat agcagcagca actgtaccag tggcagcagc aagccgaata 2341 gccccagcat ttccccttca atacttagta acacggagca caagagggga cctgaggtca 2401 cttcccaagg ggttcagact tccagcccag catgtaaaca agagaaagac gataaggaag 2461 agaagaaaga cgcagctgag caagttagga aatcaacatt gaatcccaat gcaaaggagt 2521 tcaacccacg ttccttctct cagccaaagc cttctactac cccaacttca cctcggcctc 2581 aagcacaacc tagcccatct atggtgggtc atcaacagcc aactccagtt tatactcagc 2641 ctgtttgttt tgcaccaaat atgatgtatc cagtcccagt gagcccaggc gtgcaatacc 2701 aaatatgccc caacagcggc aagaccagca tcatcagagt gccatgatgc acccagcgtc 2761 agcagcgggc ccaccgattg cagccacccc accagcttac tccacgcaat atgttgccta 2821 cagtcctcag cagttcccaa atcagcccct tgttcagcat gtgccacatt atcagtctca 2881 gcatcctcat gtctatagtc ctgtaataca gggtaatgct agaatgatgg caccaccaac 2941 acacgcccag cctggtttag tatcttcttc agcaactcag tacggggctc atgagcagac 3001 gcatgcgatg tatgcatgtc ccaaattacc atacaacaag gagacaagcc cttctttcta 3061 ctttgccatt tccacgggct cccttgctca gcagtatgcg caccctaacg ctaccctgca 3121 cccacatact ccacaccctc agccttcagc tacccccact ggacagcagc aaagccaaca 3181 tggtggaagt catcctgcac ccagtcctgt tcagcaccat cagcaccagg ccgcccaggc 3241 tctccatctg gccagtccac agcagcagtc agccatttac cacgcggggc ttgcgccaac 3301 tccaccctcc atgacacctg cctccaacac gcagtcgcca cagaatagtt tcccagcagc 3361 acaacagact gtctttacga tccatccttc tcacgttcag ccggcgtata ccaacccacc 3421 ccacatggcc cacgtacctc aggctcatgt acagtcagga atggttcctt ctcatccaac 3481 tgcccatgcg ccaatgatgc taatgacgac acagccaccc ggcggtcccc aggccgccct 3541 cgctcaaagt gcactacagc ccattccagt ctcgacaaca gcgcatttcc cctatatgac 3601 gcacccttca gtacaagccc accaccaaca gcagttgtaa ggctgccctg gaggaaccga 3661 aaggccaaat tccctcctcc cttctactgc ttctaccaac tggaagcaca gaaaactaga 3721 atttcattta ttttgttttt aaaatatata tgttgatttc ttgtaacatc caataggaat 3781 gctaacagtt cacttgcagt ggaagatact tggaccgagt agaggcattt aggaacttgg 3841 gggctattcc ataattccat atgctgtttc agagtcccgc aggtacccca gctctgcttg 3901 ccgaaactgg aagttattta ttttttaata acccttgaaa gtcatgaaca catcagctag 3961 caaaagaagt aacaagagtg attcttgctg ctattactgc taaaaaaaaa aaaaaaaaaa 4021 aaaaaaaaat caagacttgg aacgcccttt tactaaactt gacaaagttt cagtaaattc 4081 ttaccgtcaa actgacggat tattatttat aaatcaagtt tgatgaggtg atcactgtct 4141 acagtggttc aacttttaag tta //