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    Bbs12 Bardet-Biedl syndrome 12 [ Mus musculus (house mouse) ]

    Gene ID: 241950, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Bbs12provided by MGI
    Official Full Name
    Bardet-Biedl syndrome 12provided by MGI
    Primary source
    MGI:MGI:2686651
    See related
    Ensembl:ENSMUSG00000051444 AllianceGenome:MGI:2686651
    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
    Gm407; Gm721; Gm1805
    Summary
    Predicted to enable ATP binding activity. Acts upstream of or within several processes, including intraciliary transport; negative regulation of cell differentiation; and photoreceptor cell maintenance. Predicted to be located in cilium. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 12. Orthologous to human BBS12 (Bardet-Biedl syndrome 12). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 1.2), CNS E11.5 (RPKM 1.0) and 23 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Bbs12 in Genome Data Viewer
    Location:
    3 B; 3 18.41 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (37366695..37383334)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (37312547..37321450)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 36168 Neighboring gene interleukin 21 Neighboring gene STARR-seq mESC enhancer starr_07435 Neighboring gene STARR-positive B cell enhancer ABC_E11181 Neighboring gene centrin 4 Neighboring gene 28S ribosomal protein S33, mitochondrial pseudogene Neighboring gene fibroblast growth factor 2, opposite strand Neighboring gene fibroblast growth factor 2 Neighboring gene STARR-positive B cell enhancer ABC_E1616 Neighboring gene nudix hydrolase 6 Neighboring gene AFG2 AAA ATPase homolog A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response. Marion V, et al. Cell Metab, 2012 Sep 5. PMID 22958920
    2. Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability. Mockel A, et al. J Biol Chem, 2012 Oct 26. PMID 22869374, Free PMC Article
    3. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. Seo S, et al. Proc Natl Acad Sci U S A, 2010 Jan 26. PMID 20080638, Free PMC Article
    4. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Collin GB, et al. Cells, 2020 Apr 10. PMID 32290105, Free PMC Article
    5. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Despite increased obesity, glucose tolerance was increased with specific enhanced insulin sensitivity in the adipocytes of Bbs12 knockout mice.
      Title: BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    Pathways from PubChem

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    General gene information

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    Homology

    Clone Names

    • MGC102209

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within chaperone-mediated protein complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within eating behavior IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within intraciliary transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of fat cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in photoreceptor cell maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of stem cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    chaperonin-containing T-complex member BBS12; Bardet-Biedl syndrome 12 protein homolog

    NCBI Reference Sequences (RefSeq)

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    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_001008502.2 → NP_001008502.2  chaperonin-containing T-complex member BBS12 isoform 1

      See identical proteins and their annotated locations for NP_001008502.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AL691478, BC085509
      Consensus CDS
      CCDS38417.1
      UniProtKB/Swiss-Prot
      A2AGT2, Q5SUD9
      UniProtKB/TrEMBL
      Q3U0J2
      Related
      ENSMUSP00000052179.8, ENSMUST00000057975.8
      Conserved Domains (1) summary
      pfam00118
      Location:372 → 548
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family

    2. NM_001255992.1 → NP_001242921.1  chaperonin-containing T-complex member BBS12 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AL691478
      Consensus CDS
      CCDS57209.1
      UniProtKB/TrEMBL
      Q3U0J2, Z4YKQ3
      Related
      ENSMUSP00000103756.4, ENSMUST00000108121.4
      Conserved Domains (1) summary
      pfam00118
      Location:257 → 433
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      37366695..37383334
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011249682.3 → XP_011247984.1  Bardet-Biedl syndrome 12 protein homolog isoform X1

      See identical proteins and their annotated locations for XP_011247984.1

      UniProtKB/Swiss-Prot
      A2AGT2, Q5SUD9
      UniProtKB/TrEMBL
      Q3U0J2
      Conserved Domains (1) summary
      pfam00118
      Location:372 → 548
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family

    2. XM_036163097.1 → XP_036018990.1  Bardet-Biedl syndrome 12 protein homolog isoform X1

      UniProtKB/Swiss-Prot
      A2AGT2, Q5SUD9
      UniProtKB/TrEMBL
      Q3U0J2
      Conserved Domains (1) summary
      pfam00118
      Location:372 → 548
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family

    3. XM_006535480.3 → XP_006535543.1  Bardet-Biedl syndrome 12 protein homolog isoform X1

      See identical proteins and their annotated locations for XP_006535543.1

      UniProtKB/Swiss-Prot
      A2AGT2, Q5SUD9
      UniProtKB/TrEMBL
      Q3U0J2
      Conserved Domains (1) summary
      pfam00118
      Location:372 → 548
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family

    4. XM_030252614.2 → XP_030108474.1  Bardet-Biedl syndrome 12 protein homolog isoform X2

      UniProtKB/TrEMBL
      Q3U0J2, Z4YKQ3
      Conserved Domains (1) summary
      pfam00118
      Location:257 → 433
      Cpn60_TCP1; TCP-1/cpn60 chaperonin family
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SUD9.2 GenPept UniProtKB/Swiss-Prot:Q5SUD9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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