Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2)

Identity

Alias (NCBI)BLOS2
BORCS2
CEAP
CEAP11
HGNC (Hugo) BLOC1S2
HGNC Alias symbMGC10120
FLJ30135
BLOS2
BORCS2
HGNC Alias namecentrosome protein oncogene
 Biogenesis of Lysosome-related Organelles complex-1 Subunit 2
 BLOC-1 subunit 2
LocusID (NCBI) 282991
Atlas_Id 50464
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 100273293 and ends at 100286680 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EHBP1 (2p15) / BLOC1S2 (10q24.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)BLOC1S2   20984
Cards
Entrez_Gene (NCBI)BLOC1S2    biogenesis of lysosomal organelles complex 1 subunit 2
AliasesBLOS2; BORCS2; CEAP; CEAP11
GeneCards (Weizmann)BLOC1S2
Ensembl hg19 (Hinxton)ENSG00000196072 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196072 [Gene_View]  ENSG00000196072 [Sequence]  chr10:100273293-100286680 [Contig_View]  BLOC1S2 [Vega]
ICGC DataPortalENSG00000196072
TCGA cBioPortalBLOC1S2
AceView (NCBI)BLOC1S2
Genatlas (Paris)BLOC1S2
SOURCE (Princeton)BLOC1S2
Genetics Home Reference (NIH)BLOC1S2
Genomic and cartography
GoldenPath hg38 (UCSC)BLOC1S2  -     chr10:100273293-100286680 -  10q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BLOC1S2  -     10q24.31   [Description]    (hg19-Feb_2009)
GoldenPathBLOC1S2 - 10q24.31 [CytoView hg19]  BLOC1S2 - 10q24.31 [CytoView hg38]
ImmunoBaseENSG00000196072
Genome Data Viewer NCBIBLOC1S2 [Mapview hg19]  
OMIM609768   
Gene and transcription
Genbank (Entrez)AB593084 AK054697 AK298969 AY278457 AY531265
RefSeq transcript (Entrez)NM_001001342 NM_001282436 NM_001282437 NM_001282438 NM_001282439 NM_173809
Consensus coding sequences : CCDS (NCBI)BLOC1S2
Gene ExpressionBLOC1S2 [ NCBI-GEO ]   BLOC1S2 [ EBI - ARRAY_EXPRESS ]   BLOC1S2 [ SEEK ]   BLOC1S2 [ MEM ]
Gene Expression Viewer (FireBrowse)BLOC1S2 [ Firebrowse - Broad ]
GenevisibleExpression of BLOC1S2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)282991
GTEX Portal (Tissue expression)BLOC1S2
Human Protein AtlasENSG00000196072-BLOC1S2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6QNY1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6QNY1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6QNY1
PhosPhoSitePlusQ6QNY1
Domains : Interpro (EBI)BLOC1_su2   
Domain families : Pfam (Sanger)BLOC1_2 (PF10046)   
Domain families : Pfam (NCBI)pfam10046   
Conserved Domain (NCBI)BLOC1S2
SuperfamilyQ6QNY1
AlphaFold pdb e-kbQ6QNY1   
Human Protein Atlas [tissue]ENSG00000196072-BLOC1S2 [tissue]
HPRD12526
Protein Interaction databases
DIP (DOE-UCLA)Q6QNY1
IntAct (EBI)Q6QNY1
BioGRIDBLOC1S2
STRING (EMBL)BLOC1S2
ZODIACBLOC1S2
Ontologies - Pathways
QuickGOQ6QNY1
Ontology : AmiGOgamma-tubulin complex  gamma-tubulin complex  protein binding  mitochondrion  lysosomal membrane  anterograde axonal transport  extrinsic apoptotic signaling pathway via death domain receptors  endosomal transport  BLOC-1 complex  BLOC-1 complex  neuron projection development  lysosome localization  lysosome localization  melanosome organization  gamma-tubulin binding  gamma-tubulin binding  anterograde synaptic vesicle transport  platelet dense granule organization  mitochondrial outer membrane permeabilization  BORC complex  BORC complex  axon cytoplasm  
Ontology : EGO-EBIgamma-tubulin complex  gamma-tubulin complex  protein binding  mitochondrion  lysosomal membrane  anterograde axonal transport  extrinsic apoptotic signaling pathway via death domain receptors  endosomal transport  BLOC-1 complex  BLOC-1 complex  neuron projection development  lysosome localization  lysosome localization  melanosome organization  gamma-tubulin binding  gamma-tubulin binding  anterograde synaptic vesicle transport  platelet dense granule organization  mitochondrial outer membrane permeabilization  BORC complex  BORC complex  axon cytoplasm  
NDEx NetworkBLOC1S2
Atlas of Cancer Signalling NetworkBLOC1S2
Wikipedia pathwaysBLOC1S2
Orthology - Evolution
OrthoDB282991
GeneTree (enSembl)ENSG00000196072
Phylogenetic Trees/Animal Genes : TreeFamBLOC1S2
Homologs : HomoloGeneBLOC1S2
Homology/Alignments : Family Browser (UCSC)BLOC1S2
Gene fusions - Rearrangements
Fusion : QuiverBLOC1S2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBLOC1S2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BLOC1S2
dbVarBLOC1S2
ClinVarBLOC1S2
MonarchBLOC1S2
1000_GenomesBLOC1S2 
Exome Variant ServerBLOC1S2
GNOMAD BrowserENSG00000196072
Varsome BrowserBLOC1S2
ACMGBLOC1S2 variants
VarityQ6QNY1
Genomic Variants (DGV)BLOC1S2 [DGVbeta]
DECIPHERBLOC1S2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBLOC1S2 
Mutations
ICGC Data PortalBLOC1S2 
TCGA Data PortalBLOC1S2 
Broad Tumor PortalBLOC1S2
OASIS PortalBLOC1S2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBLOC1S2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBLOC1S2
Mutations and Diseases : HGMDBLOC1S2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBLOC1S2
DgiDB (Drug Gene Interaction Database)BLOC1S2
DoCM (Curated mutations)BLOC1S2
CIViC (Clinical Interpretations of Variants in Cancer)BLOC1S2
Cancer3DBLOC1S2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609768   
Orphanet
DisGeNETBLOC1S2
MedgenBLOC1S2
Genetic Testing Registry BLOC1S2
NextProtQ6QNY1 [Medical]
GENETestsBLOC1S2
Target ValidationBLOC1S2
Huge Navigator BLOC1S2 [HugePedia]
ClinGenBLOC1S2
Clinical trials, drugs, therapy
MyCancerGenomeBLOC1S2
Protein Interactions : CTDBLOC1S2
Pharm GKB GenePA134936108
PharosQ6QNY1
Clinical trialBLOC1S2
Miscellaneous
canSAR (ICR)BLOC1S2
HarmonizomeBLOC1S2
DataMed IndexBLOC1S2
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBLOC1S2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:01:15 CEST 2021

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