Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
282991
Gene name Gene Name - the full gene name approved by the HGNC.
Biogenesis of lysosomal organelles complex 1 subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BLOC1S2
Synonyms (NCBI Gene) Gene synonyms aliases
BLOS2, BORCS2, CEAP, CEAP11
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.31
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000930 Component Gamma-tubulin complex IBA 21873635
GO:0000930 Component Gamma-tubulin complex IDA 15381421
GO:0005515 Function Protein binding IPI 15102850, 18188704, 18329849, 22203680, 23414517, 25416956, 25898167, 28514442, 32296183
GO:0005739 Component Mitochondrion IDA 18188704
GO:0005765 Component Lysosomal membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609768 20984 ENSG00000196072
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

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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Psoriasis Psoriasis rs281875215, rs587777763, rs281875213, rs281875212 28537254