Gene Gene information from NCBI Gene database.
Entrez ID 282991
Gene name Biogenesis of lysosomal organelles complex 1 subunit 2
Gene symbol BLOC1S2
Synonyms (NCBI Gene)
BLOS2BORCS2CEAPCEAP11
Chromosome 10
Chromosome location 10q24.31
Summary This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the form
miRNA miRNA information provided by mirtarbase database.
464
miRTarBase ID miRNA Experiments Reference
MIRT021994 hsa-miR-128-3p Sequencing 20371350
MIRT023471 hsa-miR-23b-3p Sequencing 20371350
MIRT480807 hsa-miR-4422 PAR-CLIP 20371350
MIRT480806 hsa-miR-548m PAR-CLIP 20371350
MIRT480805 hsa-miR-595 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
GO ID Ontology Definition Evidence Reference
GO:0000930 Component Gamma-tubulin complex IBA
GO:0000930 Component Gamma-tubulin complex IDA 15381421
GO:0005515 Function Protein binding IPI 15102850, 18188704, 18329849, 22203680, 23414517, 25416956, 25898167, 28514442, 32296183, 33961781
GO:0005634 Component Nucleus IDA 18329849
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609768 20984 ENSG00000196072
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6QNY1
Protein name Biogenesis of lysosome-related organelles complex 1 subunit 2 (BLOC-1 subunit 2) (Centrosome-associated protein)
Protein function Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes (PubMed:15102850, PubMed:17182842). In concert with the AP-3 complex, the BLO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10046 BLOC1_2 42 137 Biogenesis of lysosome-related organelles complex-1 subunit 2 Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level). {ECO:0000269|PubMed:15381421}.
Sequence
Sequence length 142
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Central visual impairment Central Visual Impairment BEFREE 16967306, 19560950, 29377939
★☆☆☆☆
Found in Text Mining only
Chronic myeloproliferative disorder Myeloproliferative disorder BEFREE 10688839
★☆☆☆☆
Found in Text Mining only
Chronic venous insufficiency Venous Insufficiency BEFREE 26137554
★☆☆☆☆
Found in Text Mining only
mosaic variegated aneuploidy Mosaic Variegated Aneuploidy BEFREE 30035751
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma BEFREE 21816470
★☆☆☆☆
Found in Text Mining only
Myeloproliferative disease Myeloproliferative disorder BEFREE 10688839
★☆☆☆☆
Found in Text Mining only
Psoriasis Psoriasis GWASCAT_DG 28537254
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thrombophilia Thrombophilia BEFREE 19307088
★☆☆☆☆
Found in Text Mining only
Varicosity Vulval varices BEFREE 19307088, 25081746, 29145758, 30468494
★☆☆☆☆
Found in Text Mining only
Venous Insufficiency Venous Insufficiency BEFREE 28214491
★☆☆☆☆
Found in Text Mining only