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    Tbc1d8b TBC1 domain family, member 8B [ Mus musculus (house mouse) ]

    Gene ID: 245638, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tbc1d8bprovided by MGI
    Official Full Name
    TBC1 domain family, member 8Bprovided by MGI
    Primary source
    MGI:MGI:1918101
    See related
    Ensembl:ENSMUSG00000042473 AllianceGenome:MGI:1918101
    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
    4921505D17Rik; 9030605E16Rik
    Summary
    Predicted to enable GTPase activator activity. Predicted to be involved in glomerular filtration and vesicle-mediated transport. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in nephrotic syndrome type 20. Orthologous to human TBC1D8B (TBC1 domain family member 8B). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in bladder adult (RPKM 3.2), limb E14.5 (RPKM 3.1) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tbc1d8b in Genome Data Viewer
    Location:
    X F1; X 61.35 cM
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (138585730..138654970)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (139684964..139754221)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene ring finger protein 128 Neighboring gene STARR-seq mESC enhancer starr_47996 Neighboring gene STARR-seq mESC enhancer starr_47997 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene STARR-seq mESC enhancer starr_47998 Neighboring gene ribosomal protein S4, X-linked pseudogene Neighboring gene STARR-seq mESC enhancer starr_47999 Neighboring gene ripply transcriptional repressor 1 Neighboring gene claudin 2

    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. TBX2 and TBX3 act downstream of canonical WNT signaling in patterning and differentiation of the mouse ureteric mesenchyme. Aydoğdu N, et al. Development, 2018 Nov 26. PMID 30478225
    2. USP7 represses lineage differentiation genes in mouse embryonic stem cells by both catalytic and noncatalytic activities. Liu C, et al. Sci Adv, 2023 May 19. PMID 37196079, Free PMC Article
    3. ATG5 is required for B cell polarization and presentation of particulate antigens. Arbogast F, et al. Autophagy, 2019 Feb. PMID 30196744, Free PMC Article
    4. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    5. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in glomerular filtration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in glomerular filtration ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in glomerular filtration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in vesicle-mediated transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 8B

    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_001081499.2 → NP_001074968.1  TBC1 domain family member 8B

      See identical proteins and their annotated locations for NP_001074968.1

      Status: VALIDATED

      Source sequence(s)
      AL672243, AL731648
      Consensus CDS
      CCDS41146.1
      UniProtKB/Swiss-Prot
      A3KGB4, B9EJW4
      UniProtKB/TrEMBL
      B9EKQ1
      Related
      ENSMUSP00000094036.4, ENSMUST00000096313.4
      Conserved Domains (3) summary
      smart00164
      Location:485 → 693
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13352
      Location:296 → 388
      PH-GRAM2_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
      cd13350
      Location:156 → 254
      PH-GRAM1_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1

    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_000086.8 Reference GRCm39 C57BL/6J

      Range
      138585730..138654970
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006528546.4 → XP_006528609.1  TBC1 domain family member 8B isoform X1

      UniProtKB/TrEMBL
      B9EKQ1
      Conserved Domains (3) summary
      smart00164
      Location:448 → 656
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd13352
      Location:259 → 351
      PH-GRAM2_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 2
      cd13350
      Location:119 → 217
      PH-GRAM1_TBC1D8B; TBC1 domain family member 8B (TBC1D8B) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain, repeat 1
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A3KGB4.1 GenPept UniProtKB/Swiss-Prot:A3KGB4

    Gene LinkOut

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

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