Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2)

Identity

Alias_symbol (synonym)MGC10120
FLJ30135
BLOS2
BORCS2
Other aliasCEAP
CEAP11
HGNC (Hugo) BLOC1S2
LocusID (NCBI) 282991
Atlas_Id 50464
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 100273278 and ends at 100286364 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
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  282991  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]  chr10:100273278-100286364 [Contig_View]  BLOC1S2 [Vega]
ICGC DataPortalENSG00000196072
TCGA cBioPortalBLOC1S2
AceView (NCBI)BLOC1S2
Genatlas (Paris)BLOC1S2
WikiGenes282991
SOURCE (Princeton)BLOC1S2
Genetics Home Reference (NIH)BLOC1S2
Genomic and cartography
GoldenPath hg38 (UCSC)BLOC1S2  -     chr10:100273278-100286364 -  10q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BLOC1S2  -     10q24.31   [Description]    (hg19-Feb_2009)
EnsemblBLOC1S2 - 10q24.31 [CytoView hg19]  BLOC1S2 - 10q24.31 [CytoView hg38]
Mapping of homologs : NCBIBLOC1S2 [Mapview hg19]  BLOC1S2 [Mapview hg38]
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
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BLOC1S2
Cluster EST : UnigeneHs.715064 [ NCBI ]
CGAP (NCI)Hs.715064
Alternative Splicing GalleryENSG00000196072
Gene ExpressionBLOC1S2 [ NCBI-GEO ]   BLOC1S2 [ EBI - ARRAY_EXPRESS ]   BLOC1S2 [ SEEK ]   BLOC1S2 [ MEM ]
Gene Expression Viewer (FireBrowse)BLOC1S2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)282991
GTEX Portal (Tissue expression)BLOC1S2
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
Splice isoforms : SwissVarQ6QNY1
PhosPhoSitePlusQ6QNY1
Domains : Interpro (EBI)BLOC1_su2   
Domain families : Pfam (Sanger)BLOC1_2 (PF10046)   
Domain families : Pfam (NCBI)pfam10046   
Conserved Domain (NCBI)BLOC1S2
DMDM Disease mutations282991
Blocks (Seattle)BLOC1S2
SuperfamilyQ6QNY1
Human Protein AtlasENSG00000196072
Peptide AtlasQ6QNY1
HPRD12526
IPIIPI00411983   IPI00163483   
Protein Interaction databases
DIP (DOE-UCLA)Q6QNY1
IntAct (EBI)Q6QNY1
FunCoupENSG00000196072
BioGRIDBLOC1S2
STRING (EMBL)BLOC1S2
ZODIACBLOC1S2
Ontologies - Pathways
QuickGOQ6QNY1
Ontology : AmiGOgamma-tubulin complex  protein binding  mitochondrion  lysosome  lysosomal membrane  anterograde axonal transport  extrinsic apoptotic signaling pathway via death domain receptors  BLOC-1 complex  neuron projection development  lysosome localization  melanosome organization  gamma-tubulin binding  anterograde synaptic vesicle transport  platelet dense granule organization  mitochondrial outer membrane permeabilization  BORC complex  axon cytoplasm  
Ontology : EGO-EBIgamma-tubulin complex  protein binding  mitochondrion  lysosome  lysosomal membrane  anterograde axonal transport  extrinsic apoptotic signaling pathway via death domain receptors  BLOC-1 complex  neuron projection development  lysosome localization  melanosome organization  gamma-tubulin binding  anterograde synaptic vesicle transport  platelet dense granule organization  mitochondrial outer membrane permeabilization  BORC complex  axon cytoplasm  
NDEx NetworkBLOC1S2
Atlas of Cancer Signalling NetworkBLOC1S2
Wikipedia pathwaysBLOC1S2
Orthology - Evolution
OrthoDB282991
GeneTree (enSembl)ENSG00000196072
Phylogenetic Trees/Animal Genes : TreeFamBLOC1S2
HOVERGENQ6QNY1
HOGENOMQ6QNY1
Homologs : HomoloGeneBLOC1S2
Homology/Alignments : Family Browser (UCSC)BLOC1S2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBLOC1S2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BLOC1S2
dbVarBLOC1S2
ClinVarBLOC1S2
1000_GenomesBLOC1S2 
Exome Variant ServerBLOC1S2
ExAC (Exome Aggregation Consortium)BLOC1S2 (select the gene name)
Genetic variants : HAPMAP282991
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]  
Mutations and Diseases : HGMDBLOC1S2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BLOC1S2
DgiDB (Drug Gene Interaction Database)BLOC1S2
DoCM (Curated mutations)BLOC1S2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BLOC1S2 (select a term)
intoGenBLOC1S2
Cancer3DBLOC1S2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609768   
Orphanet
MedgenBLOC1S2
Genetic Testing Registry BLOC1S2
NextProtQ6QNY1 [Medical]
TSGene282991
GENETestsBLOC1S2
Huge Navigator BLOC1S2 [HugePedia]
snp3D : Map Gene to Disease282991
BioCentury BCIQBLOC1S2
ClinGenBLOC1S2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD282991
Chemical/Pharm GKB GenePA134936108
Clinical trialBLOC1S2
Miscellaneous
canSAR (ICR)BLOC1S2 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBLOC1S2
EVEXBLOC1S2
GoPubMedBLOC1S2
iHOPBLOC1S2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:07:49 CEST 2017

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