BORCS6 (BLOC-1 related complex subunit 6)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 54785
Gene name BLOC-1 related complex subunit 6
Gene symbol BORCS6
Synonyms (NCBI Gene)
C17orf59PRO2472
Chromosome 17
Chromosome location 17p13.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 25898167, 28514442, 31515488, 32296183, 33961781
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
GO:0016020 Component Membrane IEA
GO:0032418 Process Lysosome localization IBA
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
616599 25939 ENSG00000196544
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.
Q96GS4
Protein name BLOC-1-related complex subunit 6 (Lysosome-dispersing protein) (Lyspersin)
Protein function As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed k
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10157 BORCS6 210 → 355 BLOC-1-related complex sub-unit 6 Family
Sequence 
MESSRGRPGPETDLLAVAEHQALVFGGGPGRTSSEPPAGLRVSGEEETENVGGANRHPRT
SPKTSSCGVVHRPEREALENEPGPQGTLSGAGSRRGAPGAEHEPSLSSRHKNPAPPEGKP
SSGRDCRRGGPGGGMDVEQQEEEDNDEEAAAGSRAGRSFSSRLQDSRSLDGLSEACGGAG
SSGSAESGAGGGRRATISSPLELEGTVSRHGDLTHFVANNLQLKIRLSGAPPPPPSAPAR
PCPAPAPTPTPAIPPIDPEVLRDLERLSRELGGRVDRLLRGLGGAVQELTALSVGCIQTY
RDAVDSLGEAVDMSIKGMYTLLARCEELERALQPVQGLARQVRDIRRTLEVLEALCK
Sequence length 357
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANXIETY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Fraser syndrome 3 Uncertain significance ClinVar
Disgenet
★★★★★
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
PANIC DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations