BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 282991 |
| Gene name | Biogenesis of lysosomal organelles complex 1 subunit 2 |
| Gene symbol | BLOC1S2 |
| Synonyms (NCBI Gene) |
BLOS2BORCS2CEAPCEAP11
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
464
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
43
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| 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 |
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| Sequence length | 142 | ||||||||||
| Interactions | View interactions | ||||||||||
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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)
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