BORCS7 (BLOC-1 related complex subunit 7)

Gene

• Entrez ID: 119032
• Gene name: BLOC-1 related complex subunit 7
• Gene symbol: BORCS7
• Synonyms (NCBI Gene): C10orf32
• Chromosome: 10
• Chromosome location: 10q24.32

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT663589	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT663585	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT663588	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT663587	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT663586	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT663585	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT663584	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT663583	hsa-miR-548s	HITS-CLIP	23824327
MIRT663581	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT663582	hsa-miR-588	HITS-CLIP	23824327
MIRT663580	hsa-miR-4435	HITS-CLIP	23824327
MIRT663579	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT663578	hsa-miR-5096	HITS-CLIP	23824327
MIRT663577	hsa-miR-1303	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25898167
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0032418	Process	Lysosome localization	IEA
GO:0032418	Process	Lysosome localization	NAS	25898167
GO:0046898	Process	Response to cycloheximide	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051036	Process	Regulation of endosome size	NAS	31314175
GO:0061564	Process	Axon development	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0062196	Process	Regulation of lysosome size	NAS	31314175
GO:0072384	Process	Organelle transport along microtubule	NAS	25898167
GO:0090659	Process	Walking behavior	IEA
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	NAS	25898167
GO:0099078	Component	BORC complex	IBA
GO:0099078	Component	BORC complex	IDA	25898167
GO:0099078	Component	BORC complex	IPI	25898167

Other IDs

• MIM: 616600
• HGNC: 23516
• e!Ensembl: ENSG00000166275

Protein

• UniProt ID: Q96B45
• Protein name: BLOC-1-related complex subunit 7 (Diaskedin)
• 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
  PF16088	BORCS7	1 → 104	BLOC-1-related complex sub-unit 7	Family

• Sequence:

  MMATGTPESQARFGQSVKGLLTEKVTTCGTDVIALTKQVLKGSRSSELLGQAARNMVLQE
  DAILHSEDSLRKMAIITTHLQYQQEAIQKNVEQSSDLQDQLNHLLK

• Sequence length: 106

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Hypertensive disease	Hypertension	GWASCAT_DG	25249183, 30487518		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	19915575		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27004590, 27158905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skin Diseases	Skin disease	Pubtator	22383894	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	27692299		★☆☆☆☆ Found in Text Mining only