Tbc1d8b Gene Summary [Mouse]

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, Apr 2025]

Details

Type
Protein Coding
Official Symbol
Tbc1d8b
Official Name
TBC1 domain family, member 8B [Source:MGI Symbol;Acc:MGI:1918101]
Ensembl ID
ENSMUSG00000042473
Bio databases IDs NCBI: 245638 Ensembl: ENSMUSG00000042473
Aliases TBC1 domain family, member 8B
Synonyms 4921505D17RIK, 9030605E16Rik, GRAMD8B, NPHS20, RGD1563084, TBC1 domain family member 8B, TBC1 domain family, member 8B
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Tbc1d8b often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Rab-GTPase-TBC domain
  • Domain in Tre-2, BUB2p, and Cdc16p
  • protein binding
  • Pleckstrin homology-like domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • epithelial neoplasia
  • cancer
  • liver neoplasia
  • liver cancer
  • digestive system cancer
  • abdominal cancer
  • nephrotic syndrome type 20
  • aortic valve calcification
  • alcoholic pancreatitis
regulated by
  • EAhy926 cells

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Tbc1d8b gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • vesicle-mediated transport
  • glomerular filtration

Cellular Component

Where in the cell the gene product is active
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • calcium ion binding
  • GTPase activator activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.