LOCUS       NM_053618               2573 bp    mRNA    linear   ROD 20-OCT-2024
DEFINITION  Rattus norvegicus Bardet-Biedl syndrome 2 (Bbs2), mRNA.
ACCESSION   NM_053618
VERSION     NM_053618.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Rattus norvegicus (Norway rat)
  ORGANISM  Rattus norvegicus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Rattus.
REFERENCE   1  (bases 1 to 2573)
  AUTHORS   Shevach,E., Ali,M., Mizrahi-Meissonnier,L., McKibbin,M.,
            El-Asrag,M., Watson,C.M., Inglehearn,C.F., Ben-Yosef,T.,
            Blumenfeld,A., Jalas,C., Banin,E. and Sharon,D.
  TITLE     Association between missense mutations in the BBS2 gene and
            nonsyndromic retinitis pigmentosa
  JOURNAL   JAMA Ophthalmol 133 (3), 312-318 (2015)
   PUBMED   25541840
REFERENCE   2  (bases 1 to 2573)
  AUTHORS   May-Simera,H.L., Petralia,R.S., Montcouquiol,M., Wang,Y.X.,
            Szarama,K.B., Liu,Y., Lin,W., Deans,M.R., Pazour,G.J. and
            Kelley,M.W.
  TITLE     Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the
            cochlea
  JOURNAL   Development 142 (3), 555-566 (2015)
   PUBMED   25605782
REFERENCE   3  (bases 1 to 2573)
  AUTHORS   Chamling,X., Seo,S., Searby,C.C., Kim,G., Slusarski,D.C. and
            Sheffield,V.C.
  TITLE     The centriolar satellite protein AZI1 interacts with BBS4 and
            regulates ciliary trafficking of the BBSome
  JOURNAL   PLoS Genet 10 (2), e1004083 (2014)
   PUBMED   24550735
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2573)
  AUTHORS   Zhang,Q., Yu,D., Seo,S., Stone,E.M. and Sheffield,V.C.
  TITLE     Intrinsic protein-protein interaction-mediated and
            chaperonin-assisted sequential assembly of stable bardet-biedl
            syndrome protein complex, the BBSome
  JOURNAL   J Biol Chem 287 (24), 20625-20635 (2012)
   PUBMED   22500027
REFERENCE   5  (bases 1 to 2573)
  AUTHORS   Gascue,C., Tan,P.L., Cardenas-Rodriguez,M., Libisch,G.,
            Fernandez-Calero,T., Liu,Y.P., Astrada,S., Robello,C., Naya,H.,
            Katsanis,N. and Badano,J.L.
  TITLE     Direct role of Bardet-Biedl syndrome proteins in transcriptional
            regulation
  JOURNAL   J Cell Sci 125 (Pt 2), 362-375 (2012)
   PUBMED   22302990
REFERENCE   6  (bases 1 to 2573)
  AUTHORS   Forti,E., Aksanov,O. and Birk,R.Z.
  TITLE     Temporal expression pattern of Bardet-Biedl syndrome genes in
            adipogenesis
  JOURNAL   Int J Biochem Cell Biol 39 (5), 1055-1062 (2007)
   PUBMED   17379567
REFERENCE   7  (bases 1 to 2573)
  AUTHORS   Benzinou,M., Walley,A., Lobbens,S., Charles,M.A., Jouret,B.,
            Fumeron,F., Balkau,B., Meyre,D. and Froguel,P.
  TITLE     Bardet-Biedl syndrome gene variants are associated with both
            childhood and adult common obesity in French Caucasians
  JOURNAL   Diabetes 55 (10), 2876-2882 (2006)
   PUBMED   17003356
REFERENCE   8  (bases 1 to 2573)
  AUTHORS   Nishimura,D.Y., Fath,M., Mullins,R.F., Searby,C., Andrews,M.,
            Davis,R., Andorf,J.L., Mykytyn,K., Swiderski,R.E., Yang,B.,
            Carmi,R., Stone,E.M. and Sheffield,V.C.
  TITLE     Bbs2-null mice have neurosensory deficits, a defect in social
            dominance, and retinopathy associated with mislocalization of
            rhodopsin
  JOURNAL   Proc Natl Acad Sci U S A 101 (47), 16588-16593 (2004)
   PUBMED   15539463
REFERENCE   9  (bases 1 to 2573)
  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.W., 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   10 (bases 1 to 2573)
  AUTHORS   Kwitek-Black,A.E., Carmi,R., Duyk,G.M., Buetow,K.H., Elbedour,K.,
            Parvari,R., Yandava,C.N., Stone,E.M. and Sheffield,V.C.
  TITLE     Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for
            non-allelic genetic heterogeneity
  JOURNAL   Nat Genet 5 (4), 392-396 (1993)
   PUBMED   8298649
COMMENT     PROVISIONAL REFSEQ: This record has not yet been subject to final
            NCBI review. The reference sequence was derived from AF342738.1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF342738.1, SRR8487231.40588.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMD00132261, SAMD00132262
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2573
                     /organism="Rattus norvegicus"
                     /mol_type="mRNA"
                     /strain="Sprague-Dawley"
                     /db_xref="taxon:10116"
                     /chromosome="19"
                     /map="19p12"
     gene            1..2573
                     /gene="Bbs2"
                     /note="Bardet-Biedl syndrome 2"
                     /db_xref="GeneID:113948"
                     /db_xref="RGD:71091"
     exon            1..215
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..2264
                     /gene="Bbs2"
                     /note="bardet-Biedl syndrome 2 protein homolog;
                     Bardet-Biedl syndrome 2 homolog"
                     /codon_start=1
                     /product="BBSome complex member BBS2"
                     /protein_id="NP_446070.1"
                     /db_xref="GeneID:113948"
                     /db_xref="RGD:71091"
                     /translation="MLLPVFTLKLRHKISPRMVAIGRYDGTHPCLAAATQAGKVFIHN
                     PHMRSQHFSTSRVFQSPLESDVSLLNINQTVSCLGAGVLNPELGYDTLLVGTQTSLLA
                     YDIYNNSDLFYREVADGANALVLGTLGDIAPPLAIIGGNCALQGFDHEGNDLFWTVTG
                     DNVHSLALCDFDGDGKSELLVGSEDFDIRVFKEDEIVAEMTETEIVTSLCPMYGSRFG
                     YALSNGTVGVYDKTARYWRIKSKNHAMSIHAFDINSDGVCELITGWSNGKVDARSDRT
                     GEVIFKDNFSSAVAGVVEGDYRMDGHVQLICCSVDGEIRGYLPGTAEMKGNLLDTSVE
                     QGLIRELSQKKQNLLLELRNYEENTKAELSSPLNEADGQKGIIPANTKLHTALSVNLG
                     NDAQDAHAELRISTSNDTIIRAVLIFAEGIFAGESHVVHPSTHNLSSSIRVPITPPKD
                     VPVDLHLKTFVGYRSSTQFHVFELIRQLPRFTMYALTSPDAASEPVSFVNFIVVERAQ
                     RMVTWLNQNFLLPEDSNIQNAPFHVCFTSLRNGGQLYIKMKPSGEITVNTDDIDLAGD
                     IIQSMASFFAIEDLQVEADFPVYFEELRKVLLKVDEYHSVHQKLSANMADNSNLIRSL
                     LVRAEDARLMRDMKTMKTRYMELYDLNKDLLNGYKIRCNNHTELLGNLKAVNQAIQRA
                     GRLRVGKPKNQVISACRDAIRSNNINTLFRIMRVGTAPS"
     exon            216..443
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            444..569
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            570..632
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            633..710
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            711..815
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            816..902
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            903..1038
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            1039..1178
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            1179..1323
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            1324..1495
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            1496..1625
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            1626..1757
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            1758..1895
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            1896..2008
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            2009..2157
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
     exon            2158..2573
                     /gene="Bbs2"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 cctcgcacac tttatccgct gctaggcaac cggcctgcca agctgccaac cttgcgcctg
       61 cgtggggagt ctgtcttccg cccctagctg gcgccatcat gctgctgcct gtgttcaccc
      121 tgaaactgcg ccacaaaatc agcccccgca tggtggccat agggcgctac gacgggactc
      181 acccgtgctt ggcggccgcc acccaagcgg gcaaggtttt tattcataat cctcacatgc
      241 ggagccagca ttttagtaca tccagagtgt tccagagccc tcttgagtct gatgtgtccc
      301 tcctcaacat taaccagaca gtcagctgcc tcggcgccgg agtcttgaac cctgagcttg
      361 gctatgatac tctcttagtg gggacacaga ccagtctttt ggcttacgac atctacaata
      421 attcagattt gttctacaga gaggtcgcgg atggggcaaa tgcccttgtg ttggggactc
      481 tgggggacat tgccccgccc cttgcaatca tcggtggaaa ttgtgctctt cagggttttg
      541 atcacgaagg aaatgacctc ttttggacgg ttactggaga caatgttcat tccttggctc
      601 tgtgtgactt tgacggtgat gggaagtcag agcttcttgt tgggtctgaa gattttgaca
      661 ttcgagtttt taaagaagat gagattgtgg cagaaatgac agagacagag atagtcacct
      721 ctctgtgtcc catgtacggc agtcggtttg gttatgccct ttctaatggc acagttggag
      781 tttatgacaa aacagcccgg tactggagaa ttaaatccaa aaaccatgcc atgagcatcc
      841 atgcttttga catcaattct gatggagtgt gtgaattgat cactgggtgg tctaatggga
      901 aggttgacgc tcgcagtgac cggaccggag aggtcatatt taaagacaac ttctcttctg
      961 ccgttgctgg tgtggtggag ggagattacc ggatggatgg ccacgtacag ttaatctgct
     1021 gctcagtgga tggggaaatc cgaggctacc tgccaggcac agctgagatg aaggggaacc
     1081 tcctggacac aagtgtggag cagggcctga tccgagagct cagtcagaaa aagcagaacc
     1141 tgttgctaga actgcgcaac tacgaggaga acaccaaggc agaactgagc agtcccctga
     1201 atgaggccga tggacagaaa ggcataatcc cagccaatac caagctccac acagccctct
     1261 cagtcaatct ggggaatgat gcacaagacg cacatgcgga attacgcatt tccacttcta
     1321 atgacacaat catccgggca gtactcattt ttgcagaggg aatttttgcg ggtgaaagcc
     1381 acgtggtcca ccccagcact cacaaccttt ccagctccat ccgggtacca attacgcctc
     1441 ccaaagatgt ccctgtggat ctgcacttga aaaccttcgt gggttacaga agcagcaccc
     1501 agttccatgt gtttgaactg ataaggcagc tgcccagatt taccatgtat gcactgacaa
     1561 gcccagacgc agcgagcgag cctgtcagtt tcgtgaactt catcgtagta gagcgggcac
     1621 agaggatggt cacgtggctc aaccagaact tcttgttgcc agaagacagt aacattcaga
     1681 acgccccgtt tcacgtctgt ttcacgtcct tacgcaacgg tggccagctc tacataaaaa
     1741 tgaaaccaag tggtgagatc acggtgaata ctgatgatat tgatcttgct ggtgatatca
     1801 tccagtcgat ggcatccttt tttgctattg aagaccttca ggtagaagca gatttccctg
     1861 tctacttcga ggagttacgg aaagtgctgt tgaaggtaga tgagtaccat tcagtgcatc
     1921 aaaagctcag cgccaacatg gctgataatt ctaacctcat ccgaagtttg ctggtcagag
     1981 cggaggatgc tcgtctgatg agagacatga aaacaatgaa gactcgttat atggagctct
     2041 atgaccttaa taaagatttg ctaaatggat ataagattcg ttgtaacaac cacactgaac
     2101 tgctaggaaa cctgaaggcg gtgaaccaag caatccagag ggcaggccgt ctgcgagttg
     2161 gaaagccaaa gaaccaggtg atcagtgctt gtcgggatgc gattcgcagt aacaacatca
     2221 acacactctt cagaatcatg cgggtgggga ctgctccttc ctaggagaca ggcgagagga
     2281 aggaagctgc gaaaggtttg tgtctagaca tggaggctgg cttgctccca gtcccatctt
     2341 gatgaatgga gattgctaag gatgaaacca tgctaacgaa cacaactgaa gacagagcac
     2401 cccatctgaa agtctcctcg tctgacgtca gtattgatga gagagtgaga ctaaaagtaa
     2461 ctatttcccc atttcagagt ttaacttgtt tctgtacata aagttagtgt atgaatttat
     2521 ctcccccttg aaattgtaac tgaaatttaa agtggaatat ttactttttc att
//
