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

    Gene ID: 67378, updated on 31-Jan-2019

    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

    Genomic context

    See Bbs2 in Genome Data Viewer
    Location:
    8; 8 C5
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (94067954..94099370, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (96591854..96622711, complement)

    Chromosome 8 - NC_000074.6Genomic 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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

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

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

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

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 2 protein homolog

    NCBI Reference Sequences (RefSeq)

    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
      ENSMUSP00000034206.4, ENSMUST00000034206.5
      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 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      94067954..94099370 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006531304.2XP_006531367.1  Bardet-Biedl syndrome 2 protein homolog isoform X1

      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:277510
      BBS2_C; Ciliary BBSome complex subunit 2, C-terminal
      pfam14783
      Location:163272
      BBS2_Mid; Ciliary BBSome complex subunit 2, middle region

    RNA

    1. XR_001778463.1 RNA Sequence

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