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Q9BXC9

- BBS2_HUMAN

UniProt

Q9BXC9 - BBS2_HUMAN

Protein

Bardet-Biedl syndrome 2 protein

Gene

BBS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. RNA polymerase II repressing transcription factor binding Source: MGI

    GO - Biological processi

    1. adult behavior Source: BHF-UCL
    2. artery smooth muscle contraction Source: Ensembl
    3. brain morphogenesis Source: BHF-UCL
    4. cartilage development Source: Ensembl
    5. cerebral cortex development Source: BHF-UCL
    6. cilium morphogenesis Source: BHF-UCL
    7. fat cell differentiation Source: BHF-UCL
    8. Golgi to plasma membrane protein transport Source: MGI
    9. hippocampus development Source: BHF-UCL
    10. melanosome transport Source: BHF-UCL
    11. negative regulation of appetite by leptin-mediated signaling pathway Source: BHF-UCL
    12. negative regulation of gene expression Source: Ensembl
    13. negative regulation of multicellular organism growth Source: BHF-UCL
    14. nonmotile primary cilium assembly Source: InterPro
    15. photoreceptor cell maintenance Source: BHF-UCL
    16. positive regulation of multicellular organism growth Source: Ensembl
    17. protein localization Source: BHF-UCL
    18. protein localization to organelle Source: BHF-UCL
    19. regulation of cilium beat frequency involved in ciliary motility Source: BHF-UCL
    20. sperm axoneme assembly Source: BHF-UCL
    21. striatum development Source: BHF-UCL
    22. vasodilation Source: Ensembl
    23. visual perception Source: UniProtKB-KW

    Keywords - Biological processi

    Cilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Bardet-Biedl syndrome 2 protein
    Gene namesi
    Name:BBS2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:967. BBS2.

    Subcellular locationi

    GO - Cellular componenti

    1. BBSome Source: UniProtKB
    2. ciliary basal body Source: BHF-UCL
    3. ciliary membrane Source: UniProtKB-SubCell
    4. cytoplasm Source: UniProtKB-SubCell
    5. motile cilium Source: BHF-UCL

    Keywords - Cellular componenti

    Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti23 – 231R → P in BBS2. 1 Publication
    VAR_038889
    Natural varianti70 – 701N → S in BBS2. 1 Publication
    Corresponds to variant rs4784677 [ dbSNP | Ensembl ].
    VAR_013162
    Natural varianti75 – 751V → G in BBS2; in linkage disequilibrium with V-123 in a Bedouin kindred. 1 Publication
    VAR_013163
    Natural varianti81 – 811G → C in BBS2. 1 Publication
    VAR_066280
    Natural varianti104 – 1041D → A in BBS2. 2 Publications
    VAR_013164
    Natural varianti125 – 1251L → R in BBS2. 1 Publication
    VAR_066281
    Natural varianti136 – 1361A → P in BBS2. 1 Publication
    VAR_066282
    Natural varianti174 – 1741D → E in BBS2. 1 Publication
    VAR_038890
    Natural varianti307 – 3071C → W in BBS2. 1 Publication
    VAR_066283
    Natural varianti315 – 3151R → Q in BBS2. 2 Publications
    VAR_013166
    Natural varianti315 – 3151R → W in BBS2. 1 Publication
    VAR_013167
    Natural varianti317 – 3171Y → C in BBS2. 1 Publication
    VAR_066284
    Natural varianti349 – 3491L → W in BBS2; has a modifier effect on BBS. 1 Publication
    VAR_038891
    Natural varianti558 – 5581T → I in BBS2. 1 Publication
    VAR_013168
    Natural varianti632 – 6321R → P in BBS2. 2 Publications
    VAR_013169
    Natural varianti643 – 6431R → H in BBS2. 1 Publication
    VAR_038892

    Keywords - Diseasei

    Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

    Organism-specific databases

    MIMi209900. phenotype.
    Orphaneti110. Bardet-Biedl syndrome.
    PharmGKBiPA25276.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 721721Bardet-Biedl syndrome 2 proteinPRO_0000064843Add
    BLAST

    Proteomic databases

    MaxQBiQ9BXC9.
    PaxDbiQ9BXC9.
    PRIDEiQ9BXC9.

    PTM databases

    PhosphoSiteiQ9BXC9.

    Expressioni

    Tissue specificityi

    Widely expressed.

    Gene expression databases

    ArrayExpressiQ9BXC9.
    BgeeiQ9BXC9.
    CleanExiHS_BBS2.
    GenevestigatoriQ9BXC9.

    Organism-specific databases

    HPAiHPA041315.

    Interactioni

    Subunit structurei

    Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts (via C-terminus) with BBS7. Interacts (via coiled coil domain) with MKKS. Interacts with CCDC28B and ALDOB.5 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ALDOBP050624EBI-748297,EBI-1045507
    BBS1Q8NFJ96EBI-748297,EBI-1805484
    BBS7Q8IWZ611EBI-748297,EBI-1806001
    BBS9Q3SYG49EBI-748297,EBI-2826852
    MKKSQ9NPJ14EBI-748297,EBI-721319

    Protein-protein interaction databases

    BioGridi107059. 14 interactions.
    DIPiDIP-46563N.
    IntActiQ9BXC9. 29 interactions.
    MINTiMINT-1454659.
    STRINGi9606.ENSP00000245157.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BXC9.
    SMRiQ9BXC9. Positions 255-280.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili325 – 36945Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG87621.
    HOGENOMiHOG000007549.
    HOVERGENiHBG031114.
    InParanoidiQ9BXC9.
    KOiK16747.
    PhylomeDBiQ9BXC9.
    TreeFamiTF313236.

    Family and domain databases

    Gene3Di2.130.10.10. 2 hits.
    InterProiIPR016616. Bardet-Biedl_syndrome_2_prot.
    IPR029333. BBS2_C.
    IPR029429. BBS2_Mid.
    IPR029430. BBS2_N.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PANTHERiPTHR32465:SF0. PTHR32465:SF0. 1 hit.
    PfamiPF14782. BBS2_C. 1 hit.
    PF14783. BBS2_Mid. 1 hit.
    PF14781. BBS2_N. 1 hit.
    [Graphical view]
    PIRSFiPIRSF013684. BBS2. 1 hit.
    SUPFAMiSSF50978. SSF50978. 2 hits.

    Sequencei

    Sequence statusi: Complete.

    Q9BXC9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLLPVFTLKL RHKISPRMVA IGRYDGTHPC LAAATQTGKV FIHNPHTRNQ    50
    HVSASRVFQS PLESDVSLLN INQAVSCLTA GVLNPELGYD ALLVGTQTNL 100
    LAYDVYNNSD LFYREVADGA NAIVLGTLGD ISSPLAIIGG NCALQGFNHE 150
    GSDLFWTVTG DNVNSLALCD FDGDGKKELL VGSEDFDIRV FKEDEIVAEM 200
    TETEIVTSLC PMYGSRFGYA LSNGTVGVYD KTSRYWRIKS KNHAMSIHAF 250
    DLNSDGVNEL ITGWSNGKVD ARSDRTGEVI FKDNFSSAIA GVVEGDYRMD 300
    GHIQLICCSV DGEIRGYLPG TAEMRGNLMD TSAEQDLIRE LSQKKQNLLL 350
    ELRNYEENAK AELASPLNEA DGHRGIIPAN TRLHTTLSVS LGNETQTAHT 400
    ELRISTSNDT IIRAVLIFAE GIFTGESHVV HPSIHNLSSS ICIPIVPPKD 450
    VPVDLHLKAF VGYRSSTQFH VFESTRQLPR FSMYALTSLD PASEPISYVN 500
    FTIAERAQRV VVWLGQNFLL PEDTHIQNAP FQVCFTSLRN GGHLHIKIKL 550
    SGEITINTDD IDLAGDIIQS MASFFAIEDL QVEADFPVYF EELRKVLVKV 600
    DEYHSVHQKL SADMADHSNL IRSLLVGAED ARLMRDMKTM KSRYMELYDL 650
    NRDLLNGYKI RCNNHTELLG NLKAVNQAIQ RAGRLRVGKP KNQVITACRD 700
    AIRSNNINTL FKIMRVGTAS S 721
    Length:721
    Mass (Da):79,871
    Last modified:June 1, 2001 - v1
    Checksum:i8FA1CDAED725BEAF
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti63 – 631E → G in BAB55252. (PubMed:14702039)Curated
    Sequence conflicti169 – 1691C → R in BAB55252. (PubMed:14702039)Curated
    Sequence conflicti457 – 4571L → S in BAB55252. (PubMed:14702039)Curated
    Sequence conflicti648 – 6481Y → H in BAB55252. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti23 – 231R → P in BBS2. 1 Publication
    VAR_038889
    Natural varianti70 – 701N → S in BBS2. 1 Publication
    Corresponds to variant rs4784677 [ dbSNP | Ensembl ].
    VAR_013162
    Natural varianti75 – 751V → G in BBS2; in linkage disequilibrium with V-123 in a Bedouin kindred. 1 Publication
    VAR_013163
    Natural varianti81 – 811G → C in BBS2. 1 Publication
    VAR_066280
    Natural varianti104 – 1041D → A in BBS2. 2 Publications
    VAR_013164
    Natural varianti122 – 1221A → V.1 Publication
    Corresponds to variant rs17856449 [ dbSNP | Ensembl ].
    VAR_029747
    Natural varianti123 – 1231I → V Polymorphism in linkage disequilibrium with G-75 in a Bedouin kindred. 3 Publications
    Corresponds to variant rs11373 [ dbSNP | Ensembl ].
    VAR_013165
    Natural varianti125 – 1251L → R in BBS2. 1 Publication
    VAR_066281
    Natural varianti136 – 1361A → P in BBS2. 1 Publication
    VAR_066282
    Natural varianti174 – 1741D → E in BBS2. 1 Publication
    VAR_038890
    Natural varianti307 – 3071C → W in BBS2. 1 Publication
    VAR_066283
    Natural varianti315 – 3151R → Q in BBS2. 2 Publications
    VAR_013166
    Natural varianti315 – 3151R → W in BBS2. 1 Publication
    VAR_013167
    Natural varianti317 – 3171Y → C in BBS2. 1 Publication
    VAR_066284
    Natural varianti349 – 3491L → W in BBS2; has a modifier effect on BBS. 1 Publication
    VAR_038891
    Natural varianti504 – 5041A → V.
    Corresponds to variant rs16957538 [ dbSNP | Ensembl ].
    VAR_029748
    Natural varianti558 – 5581T → I in BBS2. 1 Publication
    VAR_013168
    Natural varianti629 – 6291E → K in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS10; uncertain pathological role. 1 Publication
    VAR_066285
    Natural varianti632 – 6321R → P in BBS2. 2 Publications
    VAR_013169
    Natural varianti643 – 6431R → H in BBS2. 1 Publication
    VAR_038892

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF342736 mRNA. Translation: AAK28552.1.
    AK027635 mRNA. Translation: BAB55252.1.
    BC014140 mRNA. Translation: AAH14140.1.
    CCDSiCCDS32451.1.
    RefSeqiNP_114091.3. NM_031885.3.
    UniGeneiHs.333738.

    Genome annotation databases

    EnsembliENST00000245157; ENSP00000245157; ENSG00000125124.
    GeneIDi583.
    KEGGihsa:583.
    UCSCiuc002ejd.2. human.

    Polymorphism databases

    DMDMi20454827.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Mutations of the BBS2 gene

    Retina International's Scientific Newsletter

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF342736 mRNA. Translation: AAK28552.1 .
    AK027635 mRNA. Translation: BAB55252.1 .
    BC014140 mRNA. Translation: AAH14140.1 .
    CCDSi CCDS32451.1.
    RefSeqi NP_114091.3. NM_031885.3.
    UniGenei Hs.333738.

    3D structure databases

    ProteinModelPortali Q9BXC9.
    SMRi Q9BXC9. Positions 255-280.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107059. 14 interactions.
    DIPi DIP-46563N.
    IntActi Q9BXC9. 29 interactions.
    MINTi MINT-1454659.
    STRINGi 9606.ENSP00000245157.

    PTM databases

    PhosphoSitei Q9BXC9.

    Polymorphism databases

    DMDMi 20454827.

    Proteomic databases

    MaxQBi Q9BXC9.
    PaxDbi Q9BXC9.
    PRIDEi Q9BXC9.

    Protocols and materials databases

    DNASUi 583.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000245157 ; ENSP00000245157 ; ENSG00000125124 .
    GeneIDi 583.
    KEGGi hsa:583.
    UCSCi uc002ejd.2. human.

    Organism-specific databases

    CTDi 583.
    GeneCardsi GC16M056569.
    GeneReviewsi BBS2.
    HGNCi HGNC:967. BBS2.
    HPAi HPA041315.
    MIMi 209900. phenotype.
    606151. gene.
    neXtProti NX_Q9BXC9.
    Orphaneti 110. Bardet-Biedl syndrome.
    PharmGKBi PA25276.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG87621.
    HOGENOMi HOG000007549.
    HOVERGENi HBG031114.
    InParanoidi Q9BXC9.
    KOi K16747.
    PhylomeDBi Q9BXC9.
    TreeFami TF313236.

    Miscellaneous databases

    GeneWikii BBS2.
    GenomeRNAii 583.
    NextBioi 2387.
    PROi Q9BXC9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BXC9.
    Bgeei Q9BXC9.
    CleanExi HS_BBS2.
    Genevestigatori Q9BXC9.

    Family and domain databases

    Gene3Di 2.130.10.10. 2 hits.
    InterProi IPR016616. Bardet-Biedl_syndrome_2_prot.
    IPR029333. BBS2_C.
    IPR029429. BBS2_Mid.
    IPR029430. BBS2_N.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    PANTHERi PTHR32465:SF0. PTHR32465:SF0. 1 hit.
    Pfami PF14782. BBS2_C. 1 hit.
    PF14783. BBS2_Mid. 1 hit.
    PF14781. BBS2_N. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF013684. BBS2. 1 hit.
    SUPFAMi SSF50978. SSF50978. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT BBS2 GLY-75, VARIANT VAL-123.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-122.
      Tissue: Placenta.
    4. Cited for: INTERACTION WITH CCDC28B.
    5. "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis."
      Nachury M.V., Loktev A.V., Zhang Q., Westlake C.J., Peraenen J., Merdes A., Slusarski D.C., Scheller R.H., Bazan J.F., Sheffield V.C., Jackson P.K.
      Cell 129:1201-1213(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBUNIT, FUNCTION, SUBCELLULAR LOCATION.
    6. Cited for: INTERACTION WITH ALDOB.
    7. "BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly."
      Seo S., Baye L.M., Schulz N.P., Beck J.S., Zhang Q., Slusarski D.C., Sheffield V.C.
      Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH BBS7 AND MKKS.
    8. "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
      Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
      PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, FUNCTION OF THE BBSOME COMPLEX, IDENTIFICATION IN THE BBSOME COMPLEX, SUBCELLULAR LOCATION.
    9. Cited for: VARIANTS BBS2 SER-70; ALA-104; GLN-315; TRP-315; ILE-558 AND PRO-632.
    10. "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome."
      Beales P.L., Badano J.L., Ross A.J., Ansley S.J., Hoskins B.E., Kirsten B., Mein C.A., Froguel P., Scambler P.J., Lewis R.A., Lupski J.R., Katsanis N.
      Am. J. Hum. Genet. 72:1187-1199(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS BBS2 GLN-315 AND TRP-349.
    11. "Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique."
      Hoskins B.E., Thorn A., Scambler P.J., Beales P.L.
      Hum. Mutat. 22:151-157(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BBS2 GLU-174.
    12. "Further support for digenic inheritance in Bardet-Biedl syndrome."
      Fauser S., Munz M., Besch D.
      J. Med. Genet. 40:E104-E104(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT BBS2 HIS-643.
    13. Cited for: VARIANT BBS2 PRO-23, VARIANT VAL-123.
    14. Cited for: VARIANT VAL-123.
    15. "Bardet-Biedl syndrome in Denmark -- report of 13 novel sequence variations in six genes."
      Hjortshoj T.D., Gronskov K., Philp A.R., Nishimura D.Y., Riise R., Sheffield V.C., Rosenberg T., Brondum-Nielsen K.
      Hum. Mutat. 31:429-436(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LYS-629.
    16. Cited for: VARIANTS BBS2 CYS-81; ALA-104; ARG-125; PRO-136; TRP-307; CYS-317 AND PRO-632.

    Entry informationi

    Entry nameiBBS2_HUMAN
    AccessioniPrimary (citable) accession number: Q9BXC9
    Secondary accession number(s): Q96CM0, Q96SN9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 2, 2002
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 116 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

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