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    Tbc1d8b TBC1 domain family member 8B [ Rattus norvegicus (Norway rat) ]

    Gene ID: 315912, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tbc1d8bprovided by RGD
    Official Full Name
    TBC1 domain family member 8Bprovided by RGD
    Primary source
    RGD:1563084
    See related
    EnsemblRapid:ENSRNOG00000054011 AllianceGenome:RGD:1563084
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1563084
    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, Dec 2024]
    Expression
    Biased expression in Kidney (RPKM 108.9), Liver (RPKM 59.8) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Tbc1d8b in Genome Data Viewer
    Location:
    Xq32
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (108107796..108195744)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (103319181..103407137)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (110894831..110983269)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene RPA1 related single stranded DNA binding protein, X-linked Neighboring gene ring finger protein 128 Neighboring gene ribosomal protein S4, X-linked, pseudogene 12 Neighboring gene ripply transcriptional repressor 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. Dorval G, et al. Am J Hum Genet, 2019 Feb 7. PMID 30661770, Free PMC Article
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    3. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    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 vesicle-mediated transport ISO
    Inferred from Sequence Orthology
    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
    		  

    General protein information

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    Preferred Names
    TBC1 domain family member 8B
    Names
    TBC1 domain family, member 8B (with GRAM domain)

    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_001401137.1 → NP_001388066.1  TBC1 domain family member 8B

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000021
      UniProtKB/TrEMBL
      A0A0G2K9M5, A0A8I6A9P8
      Related
      ENSRNOP00000075054.2, ENSRNOT00000080072.3

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086039.1 Reference GRCr8

      Range
      108107796..108195744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039100636.2 → XP_038956564.1  TBC1 domain family member 8B isoform X1

      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

    2. XM_039100637.2 → XP_038956565.1  TBC1 domain family member 8B isoform X3

      Conserved Domains (3) summary
      COG5210
      Location:402 → 572
      COG5210; GTPase-activating protein [General function prediction only]
      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

    3. XM_063280009.1 → XP_063136079.1  TBC1 domain family member 8B isoform X2

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

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