LOCUS AF119817 10126 bp mRNA linear HUM 31-JUL-2002 DEFINITION Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2) mRNA, alternatively spliced, complete cds. ACCESSION AF119817 VERSION AF119817.1 KEYWORDS . 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 10126) AUTHORS Ranta,S., Zhang,Y., Ross,B., Takkunen,E., Hirvasniemi,A., de la Chapelle,A., Gilliam,T.C. and Lehesjoki,A.E. TITLE Positional cloning and characterisation of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation JOURNAL Eur. J. Hum. Genet. 8 (5), 381-384 (2000) PUBMED 10854099 REFERENCE 2 (bases 1 to 10126) AUTHORS Ranta,S., Zhang,Y., Ross,B., Takkunen,E., Hirvasniemi,A., de la Chapelle,A., Gilliam,T.C. and Lehesjoki,A.-E. TITLE Direct Submission JOURNAL Submitted (13-JAN-1999) Medical Genetics, University of Helsinki, PO Box 21 (Haartmaninkatu 3), University of Helsinki 00014, Finland FEATURES Location/Qualifiers source 1..10126 /db_xref="H-InvDB:HIT000070221" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="8" /map="8p23; between D8S264 and D8S504" /tissue_type="testis" gene 1..10126 /gene="DLGAP2" CDS 120..3047 /gene="DLGAP2" /note="alternatively spliced" /codon_start=1 /product="discs, large (Drosophila) homolog-associated protein 2" /protein_id="AAF34344.1" /translation="MKGLSGSRTQPPLCSGHTCGLAPPEDCEHLHHGPDARPPYLLSP ADSCPGGRHRCSPRSSVHSECVMMPVVLGDHVSSSTFPRMHYSSHYDTRDDCAVAHAG AKINRIPANLLDQFEKQLPLHRDGFHTLQYQRTSAAAEQRSESPGRIRHLVHSVQKLF TKSHSLEGSSKSNANGTKADGRADDHHHAHHAKHSKRSKSKERKPEGKPRPGMSSWWS SDDNLDSDSTYRTPSVLNRHHLGPVAHCYPDALQSPFGDLSLKTSKSNNDVKCSACEG LALTPDAKYLKRSSWSTLTVSQAKEAYRKSSLNLDKPLLHQDAKPALRPCHYLQVPQD EWGGYPTGGKDEEIPCRRMRSGSYIKAMGDEESGESDSSPKTSPKSAILXEPLLKSIG QRPLGEHQTQTYLQAASDVPVGHSLDPAANYNSPKFRSRNQSYMRAVSTLSQASCVSQ VSEAEINGQFESVCESVFSEVESQAMDALDLPGCFRTRSHSYLRAIQAGYSQDDECIP MMTPSDITSTIRSTAAVSYTNYKKTPPPVPPRTTSKPLISVTAQSSTESTQDAYQDSR AQRMSPWPQDSRGLYNSTDSLDSNKAMNLALETAAAQRHLPESQSSSVRTSDKAILVS KAEELLKSRCSSIGIQDSEFPEHQPYPRSDVETATDSDTESXGLREYHSVGVQVEDEK RHGRFKRSNSVTAAVQADLELEGFPGHITTEDKGLQFGSSFQRHSEPSTPTQYSAVRT VRTQGLFSYREDYRTQVDTSTLPPPDPWLEPAIDTVETGRMSPCRRDGSWFLKLLHAE TKRMEGWCKEMEREAEENDLSEEILGKIRSAVGSAQLLMSQKFQQFYWLCQQNMDPSA MPRPTSQDLAGYWDMLQLSIEDVSMKFDELQRLRLNDWKMMESPERKEERKVPPPIPK KPPKGKFPITREKSLDLPDRQRQEARRRLMAAKRAASFRQNSASERADSIEIYIPEAQ TRL" BASE COUNT 2677 a 2592 c 2363 g 2488 t ORIGIN 1 ttcagcggcc tgaattctag aactttccgg ggccggcaga ggaggatcta gacccgcagt 61 actcatggtc gcccacgcag cacttcaatg aggagcgcta ctcgcccgcg cccaggagca 121 tgaagggcct ttccggaagt cggacccagc cgccgctgtg ttccgggcac acgtgtggtc 181 tggcgccccc ggaggactgc gagcacctgc accacgggcc cgacgcgcgg ccgccctacc 241 tgctgagccc cgccgacagc tgccccgggg ggcgccaccg ctgctcgccg cgcagctcgg 301 tgcactcgga gtgcgtgatg atgccggtgg tgctgggcga ccacgtgtcc agcagcacct 361 tcccgcggat gcactacagc tcgcactacg acacgcgcga cgactgcgct gtggcccacg 421 cgggcgccaa gatcaaccgc atcccggcca acctgctgga ccagttcgag aagcagctgc 481 cgctgcaccg ggacggcttc cacacgctgc agtaccagag gacgtccgcg gccgccgagc 541 agcgcagcga gagccccggg cggatccgcc acctggtaca ctccgtgcag aagctcttca 601 ccaagtcgca ctcgctggag ggctcctcca aaagcaacgc caacggcacc aaggcggacg 661 gccgggcgga cgaccaccac cacgcccacc acgccaagca cagcaagagg agcaagagca 721 aggagcgcaa gccggagggc aagccccggc ccggcatgag cagctggtgg agctcggacg 781 acaacctgga cagcgacagc acctatcgga cgcccagcgt gctcaaccgg caccacctgg 841 gccccgtggc ccactgctac cccgacgcgc tgcagagccc cttcggggac ctgtccctca 901 agacctccaa gagcaacaac gacgtcaagt gctcggcctg tgaggggttg gcgctgacgc 961 ccgacgccaa gtacctgaag cgcagctcct ggtctacgct gacggtcagc caggccaagg 1021 aggcctaccg caagagctcg ctgaacctgg acaagccgct gctgcaccag gacgccaagc 1081 ccgccctgag gccgtgccac tacctccagg tacctcagga tgagtgggga gggtacccca 1141 ccggtggcaa agatgaggag attccctgca ggagaatgag aagtgggagt tacattaaag 1201 ccatggggga cgaggagagc ggagagtcag actccagccc caagacatca ccaaagtcgg 1261 caatcctacm agagccgctg ctgaagtcca tcggacagag accgcttgga gagcaccaga 1321 cccagaccta cctgcaagct gcaagcgatg tgcctgtggg acacagcctg gaccccgctg 1381 cgaactacaa ctccccgaaa ttccgctccc ggaaccagag ctacatgagg gccgtcagca 1441 ccctgagcca ggccagctgc gtgagccagg tgagcgaggc ggagatcaat gggcaattcg 1501 agtccgtgtg cgagtccgtc ttcagtgaag ttgaatctca ggccatggat gccctcgacc 1561 tcccgggatg tttccgaaca aggagtcaca gctaccttcg agccattcaa gccggctact 1621 cccaagatga cgaatgtatt cccatgatga caccctctga catcacctcc accatcaggt 1681 caacagcagc tgtctcatat acaaattaca agaaaacgcc cccaccggtg ccccctcgga 1741 ccacctccaa gcctctgatc tcggtgacgg cgcagagcag caccgaatcc acccaggacg 1801 cctaccagga cagccgcgca cagaggatgt ccccgtggcc ccaggacagc cgcggcctct 1861 acaactccac ggacagcctg gacagcaaca aggccatgaa cctcgcgctg garacggccg 1921 ctgcccagcg ccacctgcca gagagccaga gcagctctgt gcggaccagc gacaaggcca 1981 tcctggtgtc caaggcggag gagctcctca agagccgctg ctcctccatc gggattcagg 2041 attctgaatt cccagagcat cagccatacc caaggtcaga tgtggaaacg gccacagatt 2101 ctgacacgga gagcygcggt ctgcgggaat accactctgt cggggtgcaa gtggaagatg 2161 agaagcgaca cggacgtttt aaacgttcta acagcgtcac ggccgccgtc caagctgacc 2221 tggagctgga ggggttccca ggccacatca ccacggagga caaaggcctt cagttcggct 2281 catccttcca gcggcactcc gagcccagca cccccaccca gtacagcgcg gtgagaactg 2341 tacggaccca ggggctcttc agctatagag aagactatcg gacccaagtg gacacctcca 2401 ccctgccccc tccagacccc tggctggagc ccgccatcga cacggtagag actgggagga 2461 tgtctccgtg ccgcagggat ggctcgtggt ttttgaagct gctgcacgca gagacaaaga 2521 ggatggaagg ctggtgcaaa gagatggaga gagaggcgga ggagaacgac ctctcggagg 2581 aaattctcgg taaaatcagg agtgctgttg ggagtgccca gcttctcatg tcccagaaat 2641 tccagcagtt ttattggctt tgccaacaga atatggaccc cagcgccatg ccgaggccga 2701 cgtcgcagga cctggccggc tactgggaca tgctgcagct ctccattgag gacgtcagca 2761 tgaagttcga cgagctgcag cggctgcggc tcaacgactg gaagatgatg gagtccccgg 2821 aaagaaagga agaaagaaag gtcccgcctc caataccaaa gaagcctccc aaggggaagt 2881 ttcccatcac aagagaaaaa tccctggacc tgcccgacag acaacgccag gaagcccgga 2941 ggcgcctcat ggccgccaag cgagcggcgt ccttccggca gaattccgcc tccgagcgcg 3001 cggacagcat cgagatctac atccccgagg cccagacccg gctctgaggg cggaggccgg 3061 cgccttcccc tcgtcgcttc cgctttcccg gacgcttgtg cagcgcggcg ccgccctggt 3121 ggtttctgtc tcctcctccc gctgaacacg tcctcgctcc cgcgctcccc gcgccccgga 3181 cacagcggga cgcggccggc ggcctcagag tccacggagc tcgcggcgag gacgacttct 3241 gcttttgttg ttgttgttgt tgttcacggg tggcctggct cacacttggc tctgagggac 3301 aggtgtggcg agacctgatt tctcctgcgt gttctcagag gacggcgaga aatgcctctg 3361 gagctggaac ccagcttaca ttttgttatt tctattttta taaattgtgt gataattaga 3421 ggtaagaata acaartaact ataaacgggt gcatcccacc actccctgga ggcattagac 3481 acccaagtgg aaggtgctac aacctgaagc gcaggaaaga aaggcccatt cccctcgcac 3541 agccgagctt ttactccctg agcacgggcc gctccgctcc cctgctcctg tctgtctcgg 3601 acagaaaaca cgaggctcct tgtgtcaagc ttcctgtgat ggaaagcgac ctctccaacc 3661 accacactcc ccgccgtaca gttctccaga atcccaggcg atgacaagtc tgaacccacg 3721 aaaataccca gcgcagcatc tacacattca aaagataagc tgagtgttcc caccaggaag 3781 tcacgcgcag agaggagagt cttacggagg gctgggagct taaaaggaaa acaatgtcct 3841 tacttgtaaa cagttattgt attttttatt tctttctaac ttaaaatacg acacccagta 3901 ttttctttaa gtttcaccat ttacgctaca tgtgattttt ttaatgtatg tatatatata 3961 tattctcaaa ttgctctatc agctgacttt tcagggtatc cttaaaaaaa aacacacacg 4021 aaaaacaaaa gtttgcttgt ttaaaatgac agttgtgatg taaaaagttt aagaaatatg 4081 aatgtgagtg gtaagtatat ctcagtttaa atggtaaaga agaaatgtag tttacatttg 4141 tatttttcca gaattctttt gtcctatgca gtattgctaa agtcgagaat atattccttg 4201 cctgtgttag acatgaaggg aaaaagaggt cacatattgt gatttccagc tgtagcattc 4261 aaaaaaaaaa ttggtgttca tgactctgtg gtcggtgcca gaggaaaata ggaacgactc 4321 taattaatag gctttctgtg tatataatta aatttagctg ctgcaaccat tgttctgaca 4381 cgacttctgt ttcacagttc agaccggtct tcaaaggaaa agcctgtccg atttttccat 4441 gggttccagt ttcagagttc tcattattac tcaaagtaaa agcggactgc gatttaagat 4501 gtttccaccc caatacctgg tcttccttcc cggcttaagg agtaccatgt acttagccac 4561 aggcagaata gctttcgatg accccatagc actttgtttc ttcaccttga tttgcacttt 4621 acaatgtccc cagcccctct gcagcccgtg gctggcaggg cgttcgatgt gcggttggcc 4681 cccagcgcgc cctccagagm tgcggtgtct ccctgcctca ttccccacat cccactgagc 4741 atgggaccat tgggagcaga gctgatatta aagcatgttt agcttcgaag ttttactttt 4801 ttaaagctga gtagttaaga attccctgta aaaacaaaac cctgtaaatt gagcctcatg 4861 tctggtatat attttaccaa acagccttaa aatatatttg gaagcaaaaa tcagtacgaa 4921 tgtatctcct tgaaaaatgc aaaaaaaaaa aaaatcctgg aatatcttct ataatgaatc 4981 ctaattcccc ccagagtgtt caaggcattt tttttaacta atgaatacct aaatcttgag 5041 tagtgtacgg taatgacgct tcttccctat atccactctt attatgttaa aacaaatgta 5101 tttgcgagta ttggcatttt aggactttaa aaatgctgta tgatttccag gtgaactctg 5161 ctgtttagaa gtaaccacag aaaagcaaag tcagtgtaca ctctgagtga aaggaaatgt 5221 aatgtggata aaggcccgcc acctcctcac attggtctat ctactggcag ctgatacgtt 5281 taactcattt ccttgagctt atacaaaaca tagaaaagca aactgttaaa gtagtcaata 5341 attatttgtc tcagatccca gattctatga tccctgctta aaagaaaatg ttcactgcat 5401 gtaggttgat ttcttatgtt ttgtagactc attgttattt ttcaatcccc aaaagtcttg 5461 gcctaaacca tccctagggg agcagattaa cctaccaata cattgcacag ggttggtgac 5521 tcgacgtggt gaatgtgcac acgccctgcc tggtccgcca tgttccaaag aagatgattt 5581 aatggtagaa cggatacctg ctgctagacc tgatggaatg ttacctgtcc gtgttacata 5641 atcaagtgca atatactcag ttctcatgca ggtgacattc taccatgaaa cgcagaagat 5701 aagccatgtt tctgtattgt acatgtaaag aaaaataaaa ctgtttatga tacttgtgtt 5761 agtcactcga gctagcttat ttcagccact tctagcagat catgccatgg agctcacgac 5821 gtgtgaccat ttcgtcatat ttaaaatata acttcaagaa aagagtaaac atccattgga 5881 gaacacggct gaaaattatt gtgctgttct aggaacatca tcctagagag tgtgatgttc 5941 actataaccc catacctaca ttccctaatg atacagccaa tgacaggtga aacccagaca 6001 ctctccttag agccgacagg ttgatcctgc tgtgttgaag gctgtggtta ataaaacaca 6061 agtatgataa acaggaccta gcgtttagcc cgggaaagga gaatgctgct tgtcacctag 6121 agtgctttcc ttgtgatgcg tctctcgcat cttcacgtgt tgttgtgttt gaagtaaaac 6181 tagttgttat cgatgacaat ttttaccata gttttctcag caaatttata tcaccatctt 6241 agaatggtat ataaaaaaat tgaactgttt atgataccaa aaaaattaca gttttgttta 6301 aaaggaaatg ttgatgtttt caactccaaa tcaattctaa aaacttcaag cacttaatgg 6361 aaaggtaaat ggtcagataa aaatataatt acctgtaagg ttatctggtt ttaaaagaaa 6421 aaaaaaaagc ctacaaactc agtgacctac tacgcagagg gaatttttcc ctgctgcttc 6481 ttatgaaagt ggccaggttt attattagaa gacacagtgg cagagcacac atgtgcacag 6541 gttctgatta tttctcttgg agcatatgtc cttgtcttga tttttgcctt ttcgatgcca 6601 tattaagcag ccaccgtttc cacccctttc attagaaggc cctgcatccg taaattcgcg 6661 catctctgtt tttgttagat ccttgtaagc atcgctaccc gagtccagga tggaatttca 6721 caggaaagtg aagggatact gcaggcctgt gtttgcagcg cctgtggtaa ctgtggaatg 6781 agctctgtta gggacagttg tctggtttgt gccaaacctt cgaggggcga gtagggagtg 6841 ggggaggtgg gtccaagtct cccctcagga aggccttttc tatcggcagc aattccatca 6901 agccaagcct cctgtggtcc tgagcatgaa ggggccaggg gacctcctgg gagatgcagc 6961 ttttgtttcc gctgcgtttc atcagtcagc cttgcttgga attctggcag gttccccggg 7021 gtgtttcagt ggacaggagg cccccgtgcc gtggctgagt cagcctgggt accccagtca 7081 ccagcagggc cacccttgat gacagggccc cccacgaacc tgggaaaggc agcgggaaat 7141 gtgtgagagg gtgtgcgctg gtacggacat aaaagcattg tccaaaacag cgctggttcg 7201 gggagggccc ctggatactg cctttggccc acactgaaaa ctgaaattgc cccacctgtg 7261 agcacagaaa cacgcttctc caacacgggc cgaaataact aaactccaca tggttcctgc 7321 ctgctcattt cccagccctc ttcttctcaa gcctgaactt catttttttt tttagctgca 7381 aatttaacag gctaatttaa aactgcagtt ttcagacgac agcccctggg aatgttccag 7441 ggttctcttg ttttgatctg catgtctgtt tacacttctc tgtaggcgtg ggttgaatac 7501 aagtttccaa aactttaaaa tagaaaacca cgagcttaag aggtgaaaaa gatgacccct 7561 ttctgattag gatctgtaac tctgtgggct gggtcaatgc agtgtgcttc attcagggcc 7621 atgtggcagc catgacacac accacataag gtcagctcag agcccatggc ttccctgcag 7681 gagccccatc ttgtcgctat tagttgggag ttgcaataca ttgttggcca taaacaaagt 7741 gctaaaggaa agggtttgct tctacacatt cggctgaatg tcccccagtg cagggtggca 7801 gcagaatgtt ctggaaatga aggagatatt gctaggaatc tctaggctgt taggcaacct 7861 ggcttttatt catcctcagc cggcaactca tctcaagttt atgtctcagt ttttttcctc 7921 tagaaagggg attacagttc ctgtccctgt cttcctccag gacacactgt gaggattaat 7981 gacatattgg ctctaaagtc ctttgagctc ctgggaacag gtggtgaaag tgtgcgttac 8041 tgctaaggat tagtcctggc tcttctagaa tgccgccctc ccagctctgc agggcacgct 8101 gccagaatcc aggctggtcg taaacatctc agagataatc agggaccacc agaggcagag 8161 gccatgagac tgtctttgga aaggtttgga aatgcagaaa taactacaag ggccattctc 8221 cttagcttct ggctttcaac tgtttctaga tgcttccaag aacaagaacc cagcaccaac 8281 cagaattagg ccacattttc accattactt aagctcaatc gcctcttaga tgaaatgagg 8341 agataaacta aacattaaaa tgatgaagga aaaaaaatta tttggaagca gaaaaccaca 8401 tgggtgggga aacatcagga acgaaatcag acacactgac tcaaaccacg caagggtttg 8461 agaagcccac ccctctaatt ccaggtgttt gtaatttctg cacttcgcac ttgagagaag 8521 gcagaggtgg tccgtgggaa agctccggga aacagccgtc tttcatcctt gccacattga 8581 aaaatgtcca caattttatg aattgctgtc ctaaccctgg cgtttttatc cagtgttaaa 8641 ataaattatt tcaagtttca atgtaaacac ttaacagatg acttctttgc agaagaaatg 8701 ttcgttacct actatcaaac tactttttaa cagattttgt atatacacac acaagttgac 8761 agaggtttac ctccctactt tcttagattt tatgtaactc ttttcattgg tgcttattca 8821 gaacctgaaa gccttgggca tccaagcttt cacctactca atggaggaga ggtgataatg 8881 aatgaaaaga ttgacaccag gtttcttgga caaatttaag ttcaaattta tctctttcaa 8941 gtagaccatg gtctccctag agagtgtgtt ggcttgtgtc tgccagtacg acaaaggacg 9001 ctcccagctt gatcgtggta ccttatggaa gccactcacg cattctctga tttaccccca 9061 aaacactacc atgccccagc cccactcatt taaataatac aatcatatca ctttcaaagg 9121 gctcagcacg aatgttcccc tcactccact ttttaactcg tttgctgaac tcgacaaggc 9181 ttccccttac gagcagtgag acctaggcta ctttcgaacg cttccttccg aacggtaagc 9241 cacttcgctc tcgggcagga caggtcctcc ctgcagagag agacaactca tcccccgacc 9301 ttccatacta cagaccaaaa tacccaggtg tggcctaagg actatattaa atgcctccta 9361 tagaaattca aggaatgtta gaaccaggaa actagctgtt taaagtttta aagaagtata 9421 taaatatata tataaatata aatatgaaat catatcgagt gtgaggatga gcagagtgcc 9481 aaatattcag catctgtaca aagtcattca ctggaattca actattttat gtcattctct 9541 ttctcacgct tttatggttc ttttgataaa ttctatttag tagcatgcag gatacctaat 9601 ctgaatgtgc aatatgctat tcatcaccac gacaatttct tacttcctct taataactta 9661 ccagaatgtt ggtcattcct ttaaggcagt taaggattgc tttatttgtg ttcttttttc 9721 ccatgacttt ttttcactct cagctgactg taagaaactg tgcaccgttt ccgccataac 9781 cgtcctgtga cgatgcctcc atttgacttc tgtatcgctg atgttcacct cctgtaaata 9841 gtttggcaat taaatttttt gagaaaagta atgtttactt ttttattgga gtgaattctc 9901 gtgttatttt aatctcagaa aaattatata gaccaaagag ttttatccga aaaaaaatta 9961 cactcttcct ccattatata tttcattgtt gaaatatcct caatttctct atattttaag 10021 aagtaatgga catttattaa ggttacagat ttaatatgta tgcaaaatgg tatagattaa 10081 atgagttttt aattaataaa tcctacagta tttagttmaa aaaaaa //