ZFIN ID: ZDB-GENE-020801-1
Gene Name: Bardet-Biedl syndrome 2
Gene Symbol: bbs2    Nomenclature History

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Previous Names: fb80a05, wu:fb80a05 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 18 Mapping Details/Browsers
Description: Involved in several processes, including Kupffer's vesicle development; cilium assembly; and establishment of pigment granule localization. Predicted to localize to several cellular components, including BBSome; ciliary basal body; and motile cilium. Is expressed in retina and retinal photoreceptor layer. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 2; obesity; and retinitis pigmentosa 74. Orthologous to human BBS2 (Bardet-Biedl syndrome 2).
Genome Resources: Alliance (1),  Gene:259187 (1),  Ensembl(GRCz11):ENSDARG00000041621 (1)
GENE EXPRESSION
All Expression Data: 8 figures from 2 publications
Directly Submitted Expression Data: 7 figures (11 images) from Thisse et al., 2004 [MGC:73041]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Larval:Day 5 (120.0h-144.0h, 3.9mm, 6 teeth)
 
High Throughput Expression: GEO (1) , Expression Atlas (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa172 Point Mutation Unknown Premature Stop ENU
sa248 Point Mutation Unknown Premature Stop ENU
sa2952 Point Mutation Unknown Premature Stop ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-bbs2 N/A 2
    MO2-bbs2 N/A 1
    MO3-bbs2 N/A 2
    MO4-bbs2 N/A 1
    DISEASE ASSOCIATED WITH bbs2 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Bardet-Biedl syndrome 2 Alliance Bardet-Biedl syndrome 2 615981
    retinitis pigmentosa 74 Alliance Retinitis pigmentosa 74 616562
    DISEASE ASSOCIATED WITH bbs2 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process determination of left/right symmetry (more)
    Cellular Component BBSome (more)
    GO Terms (all 19)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA bbs2-201 (1)    Ensembl 2577
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM bbs2 No data available
    MARKER RELATIONSHIPS
    bbs2 Contained in: [BAC] DKEY-102F14 (1) (order this)
    bbs2 Encodes: [EST] fb80a05 (1)
    [cDNA] MGC:73041 (1), MGC:86590 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_152887 (1) 2589 nt
    Genomic GenBank:BX908765 (1) 155120 nt
    Select Tool
    Polypeptide UniProtKB:Q6DI45 (1) 715 aa
    Sequence Information (all 19)
    ORTHOLOGY for bbs2 ( Chr: 18 )
    CITATIONS (36)