LOCUS AAK28552.1 721 aa PRT HUM 10-APR-2001 DEFINITION Homo sapiens BBS2 protein. ACCESSION AF342736-1 PROTEIN_ID AAK28552.1 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 Qualifiers source /db_xref="H-InvDB:HIT000077994" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="16" /map="16q21" protein /gene="BBS2" BEGIN 1 MLLPVFTLKL RHKISPRMVA IGRYDGTHPC LAAATQTGKV FIHNPHTRNQ HVSASRVFQS 61 PLESDVSLLN INQAVSCLTA GVLNPELGYD ALLVGTQTNL LAYDVYNNSD LFYREVADGA 121 NAIVLGTLGD ISSPLAIIGG NCALQGFNHE GSDLFWTVTG DNVNSLALCD FDGDGKKELL 181 VGSEDFDIRV FKEDEIVAEM TETEIVTSLC PMYGSRFGYA LSNGTVGVYD KTSRYWRIKS 241 KNHAMSIHAF DLNSDGVNEL ITGWSNGKVD ARSDRTGEVI FKDNFSSAIA GVVEGDYRMD 301 GHIQLICCSV DGEIRGYLPG TAEMRGNLMD TSAEQDLIRE LSQKKQNLLL ELRNYEENAK 361 AELASPLNEA DGHRGIIPAN TRLHTTLSVS LGNETQTAHT ELRISTSNDT IIRAVLIFAE 421 GIFTGESHVV HPSIHNLSSS ICIPIVPPKD VPVDLHLKAF VGYRSSTQFH VFESTRQLPR 481 FSMYALTSLD PASEPISYVN FTIAERAQRV VVWLGQNFLL PEDTHIQNAP FQVCFTSLRN 541 GGHLHIKIKL SGEITINTDD IDLAGDIIQS MASFFAIEDL QVEADFPVYF EELRKVLVKV 601 DEYHSVHQKL SADMADHSNL IRSLLVGAED ARLMRDMKTM KSRYMELYDL NRDLLNGYKI 661 RCNNHTELLG NLKAVNQAIQ RAGRLRVGKP KNQVITACRD AIRSNNINTL FKIMRVGTAS 721 S //