BLOC1S2

Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the BLOC1S2 gene.^[5][6][7]

AliasesBLOC1S2, BLOS2, CEAP, CEAP11, BORCS2, biogenesis of lysosomal organelles complex 1 subunit 2

External IDsOMIM: 609768; MGI: 1920939; HomoloGene: 45479; GeneCards: BLOC1S2; OMA:BLOC1S2 - orthologs

Chr.Chromosome 10 (human)^[1]

End100,286,680 bp^[1]

Quick facts Identifiers, Aliases ...

BLOC1S2
Identifiers
Aliases	BLOC1S2, BLOS2, CEAP, CEAP11, BORCS2, biogenesis of lysosomal organelles complex 1 subunit 2
External IDs	OMIM: 609768; MGI: 1920939; HomoloGene: 45479; GeneCards: BLOC1S2; OMA:BLOC1S2 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q24.31 Start 100,273,280 bp[1] End 100,286,680 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19|19 C3 Start 44,127,685 bp[2] End 44,134,885 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibialis anterior muscle skin of arm pons pars compacta Brodmann area 46 pars reticulata skin of thigh skin of hip mucosa of ileum vulva Top expressed in yolk sac neural tube bone marrow spleen granulocyte mesencephalon thymus lens olfactory bulb epiblast More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding gamma-tubulin binding protein C-terminus binding oxidoreductase activity Cellular component cytoplasm cytosol BLOC-1 complex gamma-tubulin complex microtubule organizing center mitochondrion cytoskeleton axon cytoplasm nucleus centrosome lysosome lysosomal membrane membrane BORC complex Biological process platelet dense granule organization anterograde axonal transport positive regulation of transcription, DNA-templated melanosome organization positive regulation of cell population proliferation anterograde synaptic vesicle transport neuron projection development mitochondrial outer membrane permeabilization extrinsic apoptotic signaling pathway via death domain receptors microtubule nucleation lysosome localization endosomal transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 282991 73689 Ensembl ENSG00000196072 ENSMUSG00000057506 UniProt Q6QNY1 Q9CWG9 RefSeq (mRNA) NM_173809 NM_001001342 NM_001282436 NM_001282437 NM_001282438 NM_001282439 NM_028607 RefSeq (protein) NP_001001342 NP_001269365 NP_001269366 NP_001269367 NP_001269368 NP_776170 NP_082883 Location (UCSC) Chr 10: 100.27 – 100.29 Mb Chr 19: 44.13 – 44.13 Mb PubMed search [3] [4]
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