ENSG00000196072


Homo sapiens

Features
Gene ID: ENSG00000196072
  
Biological name :BLOC1S2
  
Synonyms : biogenesis of lysosomal organelles complex 1 subunit 2 / BLOC1S2 / Q6QNY1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q24.31
Gene start: 100273280
Gene end: 100286712
  
Corresponding Affymetrix probe sets: 225049_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000359398
Ensembl peptide - ENSP00000464387
Ensembl peptide - ENSP00000481847
Ensembl peptide - ENSP00000484340
Ensembl peptide - ENSP00000410865
NCBI entrez gene - 282991     See in Manteia.
OMIM - 609768
RefSeq - XM_017016102
RefSeq - NM_001001342
RefSeq - NM_001282436
RefSeq - NM_001282437
RefSeq - NM_001282438
RefSeq - NM_001282439
RefSeq - NM_173809
RefSeq Peptide - NP_001269366
RefSeq Peptide - NP_001269367
RefSeq Peptide - NP_001269368
RefSeq Peptide - NP_776170
RefSeq Peptide - NP_001001342
RefSeq Peptide - NP_001269365
swissprot - J3QRU7
swissprot - A0A087X1N6
swissprot - F1T0F0
swissprot - Q6QNY1
Ensembl - ENSG00000196072
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 bloc1s2ENSDARG00000046081Danio rerio
 BLOC1S2ENSGALG00000005794Gallus gallus
 Q9CWG9ENSMUSG00000057506Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR019269  Biogenesis of lysosome-related organelles complex-1, subunit 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008089 anterograde axonal transport ISS
 biological_processGO:0008625 extrinsic apoptotic signaling pathway via death domain receptors IDA
 biological_processGO:0031175 neuron projection development ISS
 biological_processGO:0032418 lysosome localization IMP
 biological_processGO:0032438 melanosome organization NAS
 biological_processGO:0048490 anterograde synaptic vesicle transport ISS
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060155 platelet dense granule organization NAS
 biological_processGO:0097345 mitochondrial outer membrane permeabilization IDA
 cellular_componentGO:0000930 gamma-tubulin complex IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031083 BLOC-1 complex IDA
 cellular_componentGO:0099078 BORC complex IDA
 cellular_componentGO:1904115 axon cytoplasm IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016491 oxidoreductase activity IBA
 molecular_functionGO:0043015 gamma-tubulin binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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