BLOC1S2
Sign in to saveAlso known as BLOS2, CEAP, CEAP11, BORCS2, biogenesis of lysosomal organelles complex 1 subunit 2
Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the BLOC1S2 gene.
Gene data
BLOC1S2- Name
- biogenesis of lysosomal organelles complex 1 subunit 2
- Type
- protein-coding
- Position
- 100,272,797–100,286,708 (−)
- Aliases
- BLOS2, BORCS2, CEAP, CEAP11
- Ensembl
- ENSG00000196072
- RefSeq RNA
- NM_001001342.2, NM_001282436.2, NM_001282437.2, NM_001282438.1, NM_001282439.2
- RefSeq protein
- NP_001001342.1, NP_001269365.1, NP_001269366.1, NP_001269367.1, NP_001269368.1
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 formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
biogenesis of lysosomal organelles complex 1 subunit 2
- Symbol
- BLOC1S2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 10:100,272,797-100,286,708
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 45479
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/282991
- genomic end
- 100286680
- genomic start
- 102033713
- chromosome
- human chromosome 10
- cytogenetic location
- 10q24.31
- expressed in
- Vulva
Sources (4)
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- Interactions
- References
- External links
- Further reading
Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the BLOC1S2 gene.
==Interactions== BLOC1S2 has been shown to interact with BLOC1S1, SNAPAP, MUTED, CNO and PLDN.
Excerpted from Wikipedia’s “BLOC1S2” article, available under the CC BY-SA 4.0 licence.