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BBS2_DANRE
ID   BBS2_DANRE              Reviewed;         715 AA.
AC   Q98SP7;
DT   02-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2001, sequence version 1.
DT   03-AUG-2022, entry version 117.
DE   RecName: Full=Bardet-Biedl syndrome 2 protein homolog;
GN   Name=bbs2;
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RX   PubMed=11285252; DOI=10.1093/hmg/10.8.865;
RA   Nishimura D.Y., Searby C.C., Carmi R., Elbedour K., Van Maldergem L.,
RA   Fulton A.B., Lam B.L., Powell B.R., Swiderski R.E., Bugge K.E.,
RA   Haider N.B., Kwitek-Black A.E., Ying L., Duhl D.M., Gorman S.M., Heon E.,
RA   Iannaccone A., Bonneau D., Biesecker L.G., Jacobson S.G., Stone E.M.,
RA   Sheffield V.C.;
RT   "Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl
RT   syndrome (BBS2).";
RL   Hum. Mol. Genet. 10:865-874(2001).
CC   -!- FUNCTION: Required for ciliogenesis. {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000250}.
CC       Cytoplasm, cytoskeleton, microtubule organizing center, centrosome,
CC       centriolar satellite {ECO:0000250}.
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DR   EMBL; AF342739; AAK28555.1; -; mRNA.
DR   RefSeq; NP_690843.1; NM_152887.1.
DR   AlphaFoldDB; Q98SP7; -.
DR   SMR; Q98SP7; -.
DR   BioGRID; 79798; 1.
DR   STRING; 7955.ENSDARP00000060999; -.
DR   PaxDb; Q98SP7; -.
DR   Ensembl; ENSDART00000061000; ENSDARP00000060999; ENSDARG00000041621.
DR   Ensembl; ENSDART00000182692; ENSDARP00000145245; ENSDARG00000110124.
DR   Ensembl; ENSDART00000191308; ENSDARP00000152776; ENSDARG00000041621.
DR   GeneID; 259187; -.
DR   KEGG; dre:259187; -.
DR   CTD; 583; -.
DR   ZFIN; ZDB-GENE-020801-1; bbs2.
DR   eggNOG; ENOG502QPWU; Eukaryota.
DR   GeneTree; ENSGT00390000017113; -.
DR   HOGENOM; CLU_023359_0_0_1; -.
DR   InParanoid; Q98SP7; -.
DR   OMA; IKVDEYH; -.
DR   OrthoDB; 327831at2759; -.
DR   PhylomeDB; Q98SP7; -.
DR   TreeFam; TF313236; -.
DR   Reactome; R-DRE-5620922; BBSome-mediated cargo-targeting to cilium.
DR   PRO; PR:Q98SP7; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Chromosome 18.
DR   Bgee; ENSDARG00000041621; Expressed in testis and 21 other tissues.
DR   GO; GO:0034464; C:BBSome; IBA:GO_Central.
DR   GO; GO:0036064; C:ciliary basal body; IBA:GO_Central.
DR   GO; GO:0060170; C:ciliary membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR   GO; GO:0016020; C:membrane; IBA:GO_Central.
DR   GO; GO:0031514; C:motile cilium; IBA:GO_Central.
DR   GO; GO:0043005; C:neuron projection; IBA:GO_Central.
DR   GO; GO:0060271; P:cilium assembly; IMP:BHF-UCL.
DR   GO; GO:0007368; P:determination of left/right symmetry; IGI:ZFIN.
DR   GO; GO:0007369; P:gastrulation; IMP:ZFIN.
DR   GO; GO:0046907; P:intracellular transport; IMP:ZFIN.
DR   GO; GO:0070121; P:Kupffer's vesicle development; IMP:ZFIN.
DR   GO; GO:0032402; P:melanosome transport; IMP:BHF-UCL.
DR   GO; GO:1905515; P:non-motile cilium assembly; IEA:InterPro.
DR   GO; GO:0051877; P:pigment granule aggregation in cell center; IMP:ZFIN.
DR   Gene3D; 2.130.10.10; -; 1.
DR   InterPro; IPR016616; Bardet-Biedl_syndrome_2_prot.
DR   InterPro; IPR029333; BBS2_C.
DR   InterPro; IPR029429; BBS2_Mid.
DR   InterPro; IPR029430; BBS2_N.
DR   InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR   InterPro; IPR036322; WD40_repeat_dom_sf.
DR   PANTHER; PTHR32465; PTHR32465; 1.
DR   Pfam; PF14782; BBS2_C; 1.
DR   Pfam; PF14783; BBS2_Mid; 1.
DR   Pfam; PF14781; BBS2_N; 1.
DR   PIRSF; PIRSF013684; BBS2; 1.
DR   SUPFAM; SSF50978; SSF50978; 1.
PE   2: Evidence at transcript level;
KW   Cell membrane; Cell projection; Cilium; Cytoplasm; Cytoskeleton; Membrane;
KW   Reference proteome.
FT   CHAIN           1..715
FT                   /note="Bardet-Biedl syndrome 2 protein homolog"
FT                   /id="PRO_0000064842"
SQ   SEQUENCE   715 AA;  79126 MW;  326770AC45B36C90 CRC64;
     MLVPIFTLKL NHKINPRMVA IGKYDGIHPC LTAATQAGKV FIHNPHTRAQ RPTAHRLSQS
     TQDSDISLLN INQSVSCLTA GTLGPKSTGD TLLVGSQTNL LAYDVHDNTD VFYKEVTDGA
     NAIVLGKLGD IQSPLAIIGG NCALQGFDYE GNDLFWTVTG DNVRSLVLCD FTADGKNELL
     VGSEDFDIRV FKEDELVTEM AENETVTSLC HMHGSRFGYA LANGTVGVYD RTARYWRIKS
     KNHAMSIHAF DLNADGVVEL ITGWSNGKID ARSDRTGEVI FKDNFSSSVA GVVEGDYRMD
     GQIQLICTSV EGEVRGYLPA SKEMKGNLMD SSIEQDLIRE LSQRKQNLML ELRNYEENAK
     ALPGLSEGES KMGVIPANTQ LQTALSVRRA SESQKAHIEL NISTPNETII RAVLIFAEGI
     FEGESHVVHP SAQNLSGCVR VPIIPPKDIP VDLHIKAFVG GKTSTQFHVF EITRQLPRFS
     MYDLNVDPSA PEPTGKVTFC INDRPQRVVM WLNQNFLLPE GIDSPDVTFS ALRGGGLLRI
     SLQTSGEITL RTDDIDLAGD LVQSLASFLA IEDLQAESDF PVYFKELRAT LTEVDEFHSV
     HQKLTAAMAD HSNYIRNMLV QAEDARLMGD WRNMKKRYIE LYDLNRDLVN EYKIRSNNHN
     ALLARLKSVN QAIQRAGRLR VGKPKSQVIT ACRDAIKNNN INALFKIMRA GTTSS
 
 
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