BORCS8 (BLOC-1 related complex subunit 8)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 729991
Gene name BLOC-1 related complex subunit 8
Gene symbol BORCS8
Synonyms (NCBI Gene)
MEF2BNBNDOABA
Chromosome 19
Chromosome location 19p13.11
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 25416956, 25898167, 27107012, 32296183
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
GO:0007507 Process Heart development IEP 10458488
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616601 37247 ENSG00000254901
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96FH0
Protein name BLOC-1-related complex subunit 8 (MEF2B neighbor)
Protein function As part of the BLOC-one-related complex (BORC), it plays a role in the movement and localization of lysosomes at the cell periphery (PubMed:25898167, PubMed:38128568). Associated with the cytosolic face of lysosomes, BORC recruits ARL8B to the l
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10167 BORCS8 3 → 113 BLOC-1-related complex sub-unit 8 Family
Sequence
Sequence length 119
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities Uncertain significance rs970544693 RCV004765381
Show/Hide Text Mining Associations (2)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Celiac Disease Associate 33362776
Obsessive Compulsive Disorder Associate 26859814