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

Gene ID: 245638, updated on 11-Apr-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 several processes, including activation of GTPase activity; glomerular filtration; and intracellular protein transport. Predicted to be located 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, Apr 2022]
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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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. ATG5 is required for B cell polarization and presentation of particulate antigens. Arbogast F, et al. Autophagy, 2019 Feb. PMID 30196744, Free PMC Article
  3. 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
  4. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
  5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

See all (14) 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 (1) 

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 calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in activation of GTPase activity 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
located_in cytoplasm IEA
Inferred from Electronic Annotation
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

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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