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    Bbs2 Bardet-Biedl syndrome 2 (human) [ Mus musculus (house mouse) ]

    Gene ID: 67378, updated on 4-Sep-2021

    Summary

    Official Symbol
    Bbs2provided by MGI
    Official Full Name
    Bardet-Biedl syndrome 2 (human)provided by MGI
    Primary source
    MGI:MGI:2135267
    See related
    Ensembl:ENSMUSG00000031755
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    AI447581; 2410125H22Rik
    Expression
    Ubiquitous expression in frontal lobe adult (RPKM 8.6), testis adult (RPKM 8.2) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Bbs2 in Genome Data Viewer
    Location:
    8; 8 C5
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (94794580..94825997, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (94067952..94099369, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (96591854..96622711, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene nudix (nucleoside diphosphate linked moiety X)-type motif 21 Neighboring gene 2-oxoglutarate and iron-dependent oxygenase domain containing 1 Neighboring gene predicted gene, 39226 Neighboring gene metallothionein 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA polymerase II-specific DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Golgi to plasma membrane protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within adult behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within artery smooth muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within brain morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell projection organization IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cerebral cortex development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within fat cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    acts_upstream_of_or_within hippocampus development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within leptin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of appetite by leptin-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    NOT involved_in non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization to ciliary membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cilium beat frequency involved in ciliary motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to leptin IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within striatum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within vasodilation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in visual perception ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of BBSome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of BBSome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in motile cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in motile cilium ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in stereocilium IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 2 protein homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_026116.3NP_080392.1  Bardet-Biedl syndrome 2 protein homolog

      See identical proteins and their annotated locations for NP_080392.1

      Status: VALIDATED

      Source sequence(s)
      AC131733, AC138118
      Consensus CDS
      CCDS40434.1
      UniProtKB/Swiss-Prot
      Q9CWF6
      Related
      ENSMUSP00000034206.5, ENSMUST00000034206.6
      Conserved Domains (4) summary
      COG2319
      Location:104317
      WD40; WD40 repeat [General function prediction only]
      pfam14781
      Location:20161
      BBS2_N; Ciliary BBSome complex subunit 2, N-terminal
      pfam14782
      Location:277715
      BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
      pfam14783
      Location:163272
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      94794580..94825997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030243735.2XP_030099595.1  Bardet-Biedl syndrome 2 protein homolog isoform X1

      Conserved Domains (2) summary
      pfam14783
      Location:173
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region
      pfam14782
      Location:78516
      BBS2_C; Ciliary BBSome complex subunit 2, C-terminal

    RNA

    1. XR_001778463.3 RNA Sequence

    2. XR_004934872.1 RNA Sequence

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