LOCUS AF342736 2907 bp mRNA linear HUM 10-APR-2001 DEFINITION Homo sapiens BBS2 (BBS2) mRNA, complete cds. ACCESSION AF342736 VERSION AF342736.1 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 2907) AUTHORS Nishimura,D.Y., Searby,C.C., Carmi,R., Elbedour,K., Van Maldergem,L., Fulton,A.B., Lam,B.L., Powell,B.R., Swiderski,R.E., Bugge,K.E., Haider,N.B., Kwitek-Black,A.E., Ying,L., Duhl,D.M., Gorman,S.M., Heon,E., Iannaccone,A., Bonneau,D., Biesecker,L.G., Jacobson,S.G., Stone,E.M. and Sheffield,V.C. TITLE Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2) JOURNAL Hum. Mol. Genet. 10 (8), 865-874 (2001) PUBMED 11285252 REFERENCE 2 (bases 1 to 2907) AUTHORS Nishimura,D.Y., Searby,C.C., Carmi,R., Elbedour,K., Van Maldergem,L., Fulton,A.B., Lam,B.L., Powell,B.R., Swiderski,R.E., Bugge,K.E., Haider,N.B., Kwitek-Black,A.E., Ying,L., Duhl,D.M., Gorman,S.M., Heon,E., Iannaccone,A., Bonneau,D., Biesecker,L.G., Jacobson,S.G., Stone,E.M. and Sheffield,V.C. TITLE Direct Submission JOURNAL Submitted (26-JAN-2001) Pediatrics, University of Iowa, 440G EMRB, Iowa City, IA 52242, USA FEATURES Location/Qualifiers source 1..2907 /db_xref="H-InvDB:HIT000077994" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q21" gene 1..2907 /gene="BBS2" CDS 422..2587 /gene="BBS2" /codon_start=1 /product="BBS2" /protein_id="AAK28552.1" /translation="MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQTGKVFIHN PHTRNQHVSASRVFQSPLESDVSLLNINQAVSCLTAGVLNPELGYDALLVGTQTNLLA YDVYNNSDLFYREVADGANAIVLGTLGDISSPLAIIGGNCALQGFNHEGSDLFWTVTG DNVNSLALCDFDGDGKKELLVGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFG YALSNGTVGVYDKTSRYWRIKSKNHAMSIHAFDLNSDGVNELITGWSNGKVDARSDRT GEVIFKDNFSSAIAGVVEGDYRMDGHIQLICCSVDGEIRGYLPGTAEMRGNLMDTSAE QDLIRELSQKKQNLLLELRNYEENAKAELASPLNEADGHRGIIPANTRLHTTLSVSLG NETQTAHTELRISTSNDTIIRAVLIFAEGIFTGESHVVHPSIHNLSSSICIPIVPPKD VPVDLHLKAFVGYRSSTQFHVFESTRQLPRFSMYALTSLDPASEPISYVNFTIAERAQ RVVVWLGQNFLLPEDTHIQNAPFQVCFTSLRNGGHLHIKIKLSGEITINTDDIDLAGD IIQSMASFFAIEDLQVEADFPVYFEELRKVLVKVDEYHSVHQKLSADMADHSNLIRSL LVGAEDARLMRDMKTMKSRYMELYDLNRDLLNGYKIRCNNHTELLGNLKAVNQAIQRA GRLRVGKPKNQVITACRDAIRSNNINTLFKIMRVGTASS" BASE COUNT 769 a 649 c 739 g 750 t ORIGIN 1 tgtcaagtat gcagggtgca gcttggatgt ggtgctagaa ggggaagcct ctgggctgag 61 catgtaggct cgtcagtaga gttcaacccg caggagtaaa ttactgcagt gagaaacaac 121 cgcacccgcg gcccagcagg ggttccactg cgcagccgca aaaggcgccg aggctccacc 181 gcgcagccac agaaggcgcc gaggctccac cgcgcagccg caaaaagagc ggacgggtct 241 gcgccgccgc aggaggagca ggcggtacct ggacgggttc gtcccgggct gtttcgcgtc 301 cggcctgagg cggctggggc cgcgcaggta gtgtccctgc acttcttgcc cgggcgcgtg 361 aggccagctc cgctgcgctt gtctccagct tccagccctc ctcccctaag ccgccgccat 421 catgctgctg cctgtgttca ccctgaaact gcgccacaaa atcagccccc gaatggtggc 481 catagggcgc tacgacggga ctcacccgtg cctggcggcc gccacccaaa cgggcaaggt 541 ttttattcat aatcctcata cacggaacca gcatgtcagt gcatccaggg tcttccagag 601 ccccctggaa tctgatgttt ctcttctcaa cattaaccag gcagtcagct gtctgactgc 661 aggcgtattg aaccctgagc ttggctatga tgccctttta gtggggacac agactaatct 721 tttggcttat gatgtctaca ataattcgga tttgttctac agagaggtag cagatggggc 781 aaatgcaatt gtgctgggga cattgggaga catttcttcc cctcttgcga ttattggtgg 841 caattgtgct ctgcaaggtt tcaatcatga aggaagtgat ctcttttgga cggttactgg 901 agacaatgtt aattccttgg ccttgtgtga ctttgatggt gatggaaaga aagagcttct 961 tgttggatct gaggattttg atatccgagt ttttaaggaa gatgagattg tggcagaaat 1021 gacagaaaca gagatagtca cctctctttg tcccatgtat ggcagtcgat ttggttatgc 1081 cctttccaat ggcacagttg gagtttatga caaaacatcc cgatactgga gaattaaatc 1141 gaaaaatcat gccatgagca ttcatgcttt tgaccttaat tctgatggag tgaatgaact 1201 gataactggt tggtccaatg ggaaggttga tgctcgaagt gaccgaactg gggaggtcat 1261 ctttaaggac aatttttctt ctgcaattgc cggtgtggta gagggagatt accggatgga 1321 tggccacata cagttaatct gctgctcagt ggatggggaa atccggggct acctgcctgg 1381 cacggctgag atgaggggca acctcatgga caccagtgca gagcaggacc tgatccgaga 1441 gctgagtcag aagaagcaga atctgttgct ggaactccgt aactatgagg aaaatgccaa 1501 ggctgaattg gccagtccac tgaacgaggc tgatgggcat cggggcataa tcccagccaa 1561 taccaggctc cacaccacgc tctcagtcag cctggggaat gagacccaaa ctgctcatac 1621 agaattacgc atttccactt ctaatgacac catcatccga gcagtattga tttttgcaga 1681 aggaattttt acaggtgaaa gccacgtggt acatcccagc attcacaacc tctccagttc 1741 catctgcatc cctattgtgc ctcccaaaga tgtccctgtg gatctgcact tgaaggcatt 1801 cgtgggttac agaagcagca cccagtttca tgtatttgaa tcgacaagac agctccctcg 1861 attctccatg tatgcgctga ccagcctgga ccctgccagt gagccaatca gttatgttaa 1921 ctttaccatt gcagaacggg cacagagggt tgttgtatgg ctcggtcaga actttctgtt 1981 accagaagac actcacattc agaatgctcc atttcaagtg tgtttcacat ctttacggaa 2041 tggcggccac ctgcatataa aaataaaact tagtggagag atcactataa atactgatga 2101 tattgatttg gctggtgata tcatccagtc aatggcatca ttttttgcta ttgaagacct 2161 tcaagtagaa gcggattttc ctgtctattt tgaggaatta cgaaaggtgc tagttaaggt 2221 ggatgaatat cattcagtgc atcagaagct cagtgctgat atggctgatc attctaattt 2281 gatccgaagt ttgctggtcg gagctgagga tgctcgtctg atgagggaca tgaaaacaat 2341 gaagagtcgt tatatggaac tctatgacct taatagagac ttgctaaatg gatataaaat 2401 tcgctgtaac aatcacacag agctgttggg aaacctcaaa gcagtaaatc aagcaattca 2461 aagagcaggt cgtctgcggg ttggaaaacc aaagaaccag gtgatcactg cttgtcggga 2521 tgcaattcga agcaataaca tcaacacact gttcaaaatc atgcgagtgg ggacagcttc 2581 ttcctaggtg aggaaaatac aggtcatgaa gttcctggca aagattttct gttaaaaacc 2641 tatgctggtt tgctttggat cacaccctgg tgaaccccgg gtgctaagaa tgaaaataac 2701 cttggtgagt tgtacaaatt aaagacaaag aactacatgt gaagatagac ttgctttcta 2761 tttttaaatc agtagtagta ctgttgctga ataatactag gtttttatgg aataggatga 2821 atgcttttga agtattaggg cttcagagtc caattttgct tatttatggt atataaatac 2881 atattttttt cttgaaaaaa aaaaaaa //