BORCS8 Gene Summary [Human]

Involved in heart development. Part of BORC complex. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Nonsense Mediated Decay
Official Symbol
BORCS8
Official Name
BLOC-1 related complex subunit 8 [Source:HGNC Symbol;Acc:HGNC:37247]
Ensembl ID
ENSG00000254901
Bio databases IDs NCBI: 729991 Ensembl: ENSG00000254901
Aliases BLOC-1 related complex subunit 8
Synonyms 2310045N01Rik, BLOC-1 related complex subunit 8, LOC684626, MEF2BNB, NDOABA
Species
Human, Homo sapiens
OrthologiesMouseRat

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 human BORCS8 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding
  • BLOC-1-related complex sub-unit 8

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • infantile-onset neurodegeneration with optic atrophy and brain abnormalities

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

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human BORCS8 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • lysosome localization
  • heart development
  • organelle transport along microtubule
  • regulation of endosome size

Molecular Function

What the gene product does at the molecular level
  • protein binding

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.