BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2)
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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282991 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Biogenesis of lysosomal organelles complex 1 subunit 2 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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BLOC1S2 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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BLOS2, BORCS2, CEAP, CEAP11 |
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Chromosome
Chromosome number
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10 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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10q24.31 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||
| UniProt ID | 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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