LOCUS       NP_080392                721 aa            linear   ROD 20-OCT-2024
DEFINITION  BBSome complex member BBS2 [Mus musculus].
ACCESSION   NP_080392
VERSION     NP_080392.1
DBSOURCE    REFSEQ: accession NM_026116.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (residues 1 to 721)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (residues 1 to 721)
  AUTHORS   Bedogni,F. and Hevner,R.F.
  TITLE     Cell-Type-Specific Gene Expression in Developing Mouse Neocortex:
            Intermediate Progenitors Implicated in Axon Development
  JOURNAL   Front Mol Neurosci 14, 686034 (2021)
   PUBMED   34321999
  REMARK    Publication Status: Online-Only
REFERENCE   3  (residues 1 to 721)
  AUTHORS   Husson,H., Bukanov,N.O., Moreno,S., Smith,M.M., Richards,B.,
            Zhu,C., Picariello,T., Park,H., Wang,B., Natoli,T.A., Smith,L.A.,
            Zanotti,S., Russo,R.J., Madden,S.L., Klinger,K.W., Modur,V. and
            Ibraghimov-Beskrovnaya,O.
  TITLE     Correction of cilia structure and function alleviates multi-organ
            pathology in Bardet-Biedl syndrome mice
  JOURNAL   Hum Mol Genet 29 (15), 2508-2522 (2020)
   PUBMED   32620959
  REMARK    GeneRIF: Correction of cilia structure and function alleviates
            multi-organ pathology in Bardet-Biedl syndrome mice.
REFERENCE   4  (residues 1 to 721)
  AUTHORS   Hsu,Y., Garrison,J.E., Seo,S. and Sheffield,V.C.
  TITLE     The absence of BBSome function decreases synaptogenesis and causes
            ectopic synapse formation in the retina
  JOURNAL   Sci Rep 10 (1), 8321 (2020)
   PUBMED   32433491
  REMARK    Publication Status: Online-Only
REFERENCE   5  (residues 1 to 721)
  AUTHORS   Collin,G.B., Gogna,N., Chang,B., Damkham,N., Pinkney,J., Hyde,L.F.,
            Stone,L., Naggert,J.K., Nishina,P.M. and Krebs,M.P.
  TITLE     Mouse Models of Inherited Retinal Degeneration with Photoreceptor
            Cell Loss
  JOURNAL   Cells 9 (4), 931 (2020)
   PUBMED   32290105
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 721)
  AUTHORS   Laurier,V., Stoetzel,C., Muller,J., Thibault,C., Corbani,S.,
            Jalkh,N., Salem,N., Chouery,E., Poch,O., Licaire,S., Danse,J.M.,
            Amati-Bonneau,P., Bonneau,D., Megarbane,A., Mandel,J.L. and
            Dollfus,H.
  TITLE     Pitfalls of homozygosity mapping: an extended consanguineous
            Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10),
            three mutations, but no triallelism
  JOURNAL   Eur J Hum Genet 14 (11), 1195-1203 (2006)
   PUBMED   16823392
REFERENCE   7  (residues 1 to 721)
  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
  REMARK    GeneRIF: mice lacking Bbs2 gene expression have phenotypes
            associated with cilia dysfunction, including retinopathy, renal
            cysts, male infertility, and a deficit in olfaction
REFERENCE   8  (residues 1 to 721)
  AUTHORS   Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R. and
            Katsanis,N.
  TITLE     Identification of a novel Bardet-Biedl syndrome protein, BBS7, that
            shares structural features with BBS1 and BBS2
  JOURNAL   Am J Hum Genet 72 (3), 650-658 (2003)
   PUBMED   12567324
REFERENCE   9  (residues 1 to 721)
  AUTHORS   Mykytyn,K., Nishimura,D.Y., Searby,C.C., Beck,G., Bugge,K.,
            Haines,H.L., Cornier,A.S., Cox,G.F., Fulton,A.B., Carmi,R.,
            Iannaccone,A., Jacobson,S.G., Weleber,R.G., Wright,A.F., Riise,R.,
            Hennekam,R.C., Luleci,G., Berker-Karauzum,S., Biesecker,L.G.,
            Stone,E.M. and Sheffield,V.C.
  TITLE     Evaluation of complex inheritance involving the most common
            Bardet-Biedl syndrome locus (BBS1)
  JOURNAL   Am J Hum Genet 72 (2), 429-437 (2003)
   PUBMED   12524598
REFERENCE   10 (residues 1 to 721)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC131733.3 and AC138118.4.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AF342737.1, AK010779.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164131 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..721
                     /organism="Mus musculus"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="8"
                     /map="8 46.14 cM"
     Protein         1..721
                     /product="BBSome complex member BBS2"
                     /note="Bardet-Biedl syndrome 2 protein homolog"
                     /calculated_mol_wt=79801
     Region          20..126
                     /region_name="BBS2_N"
                     /note="Ciliary BBSome complex subunit 2, N-terminal;
                     pfam14781"
                     /db_xref="CDD:464314"
     Region          165..272
                     /region_name="BBS2_Mid"
                     /note="Ciliary BBSome complex subunit 2, middle region;
                     pfam14783"
                     /db_xref="CDD:405473"
     Region          276..715
                     /region_name="BBS2_C"
                     /note="Ciliary BBSome complex subunit 2, C-terminal;
                     pfam14782"
                     /db_xref="CDD:464315"
     CDS             1..721
                     /gene="Bbs2"
                     /gene_synonym="2410125H22Rik"
                     /coded_by="NM_026116.3:158..2323"
                     /db_xref="CCDS:CCDS40434.1"
                     /db_xref="GeneID:67378"
                     /db_xref="MGI:MGI:2135267"
ORIGIN      
        1 mllpvftlkl rhkisprmva igrydgthpc laaatqagkv fihnphtrsq hfsasrvfqs
       61 plesdvslln inqtvsclgs gvlnpelgyd tllvgtqtsl laydiynnsd lfyrevsdga
      121 naivlgtlgd iapplaiigg ncalqgfdhe gndlfwtvtg dnvhslalcd fdgdgktell
      181 vgsedfdirv fkedeivaem teteivtslc pmygsrfgya lsngtvgvyd ktarywriks
      241 knhamsihaf dinsdgvcel itgwsngkvd arsdrtgevi fkdnfssava gvvegdyrmd
      301 ghvqliccsv dgeirgylpg taemkgnlld tsveqdlire lsqkkqnlll elrnyeestk
      361 aelssplnea dgqkgiipan trlhtalsvn mgndlqdaha elgistsndt iiravlifae
      421 gifvgeshvv hpsihnlsss lrvpitppkd vpvdlhlktf vgyrsstqfh vfeltrqlpr
      481 ftmyaltspd aasepvsyvn fsvaertqrm vtwlnqnfll pedsnvqnsp fhvcftslrn
      541 ggqlyikmkq sgeitvntdd idlagdiiqs iasffaiedl qveadfpvyf eelrkvlvkv
      601 deyhsvhqkl sadmadnsnl irsllvraed arlmrdmktm ksrymelydl nkdllngyki
      661 rcnnhtellg nlkavnqaiq ragrlrvgkp knqvisacrd airsnnintl frimrvgtap
      721 s
//
