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BCL2A1 (BCL2 related protein A1)

Identity

Alias_namesHBPA1
Alias_symbol (synonym)GRS
BFL1
BCL2L5
ACC-1
ACC-2
ACC2
ACC1
Other alias
HGNC (Hugo) BCL2A1
LocusID (NCBI) 597
Atlas_Id 770
Location 15q25.1  [Link to chromosome band 15q25]
Location_base_pair Starts at 80253232 and ends at 80263643 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
EPB41L1 (20q11.23) / BCL2A1 (15q25.1)GPC4 (Xq26.2) / BCL2A1 (15q25.1)MTHFS (15q25.1) / BCL2A1 (15q25.1)
EPB41L1 20q11.23 / BCL2A1 15q25.1MTHFS 15q25.1 / BCL2A1 15q25.1

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)BCL2A1   991
Cards
Entrez_Gene (NCBI)BCL2A1  597  BCL2 related protein A1
AliasesACC-1; ACC-2; ACC1; ACC2; 
BCL2L5; BFL1; GRS; HBPA1
GeneCards (Weizmann)BCL2A1
Ensembl hg19 (Hinxton)ENSG00000140379 [Gene_View]  chr15:80253232-80263643 [Contig_View]  BCL2A1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000140379 [Gene_View]  chr15:80253232-80263643 [Contig_View]  BCL2A1 [Vega]
ICGC DataPortalENSG00000140379
TCGA cBioPortalBCL2A1
AceView (NCBI)BCL2A1
Genatlas (Paris)BCL2A1
WikiGenes597
SOURCE (Princeton)BCL2A1
Genetics Home Reference (NIH)BCL2A1
Genomic and cartography
GoldenPath hg19 (UCSC)BCL2A1  -     chr15:80253232-80263643 -  15q25.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BCL2A1  -     15q25.1   [Description]    (hg38-Dec_2013)
EnsemblBCL2A1 - 15q25.1 [CytoView hg19]  BCL2A1 - 15q25.1 [CytoView hg38]
Mapping of homologs : NCBIBCL2A1 [Mapview hg19]  BCL2A1 [Mapview hg38]
OMIM601056   
Gene and transcription
Genbank (Entrez)AL110097 AY234180 BC016281 BG198875 BG204033
RefSeq transcript (Entrez)NM_001114735 NM_004049
RefSeq genomic (Entrez)NC_000015 NC_018926 NG_029487 NT_010194 NW_004929398
Consensus coding sequences : CCDS (NCBI)BCL2A1
Cluster EST : UnigeneHs.227817 [ NCBI ]
CGAP (NCI)Hs.227817
Alternative Splicing GalleryENSG00000140379
Gene ExpressionBCL2A1 [ NCBI-GEO ]   BCL2A1 [ EBI - ARRAY_EXPRESS ]   BCL2A1 [ SEEK ]   BCL2A1 [ MEM ]
Gene Expression Viewer (FireBrowse)BCL2A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)597
GTEX Portal (Tissue expression)BCL2A1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16548   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16548  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16548
Splice isoforms : SwissVarQ16548
PhosPhoSitePlusQ16548
Domaine pattern : Prosite (Expaxy)BCL2_FAMILY (PS50062)    BH1 (PS01080)    BH2 (PS01258)   
Domains : Interpro (EBI)Bcl2-like    Bcl2_BH1_motif_CS    Bcl2_BH2_motif_CS    Bcl2A1    Blc2_fam   
Domain families : Pfam (Sanger)Bcl-2 (PF00452)   
Domain families : Pfam (NCBI)pfam00452   
Conserved Domain (NCBI)BCL2A1
DMDM Disease mutations597
Blocks (Seattle)BCL2A1
PDB (SRS)2VM6    3I1H    3MQP    4ZEQ   
PDB (PDBSum)2VM6    3I1H    3MQP    4ZEQ   
PDB (IMB)2VM6    3I1H    3MQP    4ZEQ   
PDB (RSDB)2VM6    3I1H    3MQP    4ZEQ   
Structural Biology KnowledgeBase2VM6    3I1H    3MQP    4ZEQ   
SCOP (Structural Classification of Proteins)2VM6    3I1H    3MQP    4ZEQ   
CATH (Classification of proteins structures)2VM6    3I1H    3MQP    4ZEQ   
SuperfamilyQ16548
Human Protein AtlasENSG00000140379
Peptide AtlasQ16548
HPRD03034
IPIIPI00002881   IPI00384353   
Protein Interaction databases
DIP (DOE-UCLA)Q16548
IntAct (EBI)Q16548
FunCoupENSG00000140379
BioGRIDBCL2A1
STRING (EMBL)BCL2A1
ZODIACBCL2A1
Ontologies - Pathways
QuickGOQ16548
Ontology : AmiGOrelease of cytochrome c from mitochondria  protein binding  mitochondrial outer membrane  mitochondrial fusion  intrinsic apoptotic signaling pathway in response to DNA damage  channel activity  protein homodimerization activity  positive regulation of apoptotic process  negative regulation of apoptotic process  protein heterodimerization activity  transmembrane transport  extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBIrelease of cytochrome c from mitochondria  protein binding  mitochondrial outer membrane  mitochondrial fusion  intrinsic apoptotic signaling pathway in response to DNA damage  channel activity  protein homodimerization activity  positive regulation of apoptotic process  negative regulation of apoptotic process  protein heterodimerization activity  transmembrane transport  extrinsic apoptotic signaling pathway in absence of ligand  
Pathways : KEGGNF-kappa B signaling pathway    Transcriptional misregulation in cancer   
NDEx NetworkBCL2A1
Atlas of Cancer Signalling NetworkBCL2A1
Wikipedia pathwaysBCL2A1
Orthology - Evolution
OrthoDB597
GeneTree (enSembl)ENSG00000140379
Phylogenetic Trees/Animal Genes : TreeFamBCL2A1
HOVERGENQ16548
HOGENOMQ16548
Homologs : HomoloGeneBCL2A1
Homology/Alignments : Family Browser (UCSC)BCL2A1
Gene fusions - Rearrangements
Fusion : MitelmanEPB41L1/BCL2A1 [20q11.23/15q25.1]  [t(15;20)(q25;q11)]  
Fusion : MitelmanMTHFS/BCL2A1 [15q25.1/15q25.1]  [t(15;15)(q25;q25)]  
Fusion: TCGAEPB41L1 20q11.23 BCL2A1 15q25.1 BRCA
Fusion: TCGAMTHFS 15q25.1 BCL2A1 15q25.1 KIRC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCL2A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCL2A1
dbVarBCL2A1
ClinVarBCL2A1
1000_GenomesBCL2A1 
Exome Variant ServerBCL2A1
ExAC (Exome Aggregation Consortium)BCL2A1 (select the gene name)
Genetic variants : HAPMAP597
Genomic Variants (DGV)BCL2A1 [DGVbeta]
DECIPHER (Syndromes)15:80253232-80263643  ENSG00000140379
CONAN: Copy Number AnalysisBCL2A1 
Mutations
ICGC Data PortalBCL2A1 
TCGA Data PortalBCL2A1 
Broad Tumor PortalBCL2A1
OASIS PortalBCL2A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBCL2A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBCL2A1
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 BCL2A1
DgiDB (Drug Gene Interaction Database)BCL2A1
DoCM (Curated mutations)BCL2A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BCL2A1 (select a term)
intoGenBCL2A1
Cancer3DBCL2A1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601056   
Orphanet
MedgenBCL2A1
Genetic Testing Registry BCL2A1
NextProtQ16548 [Medical]
TSGene597
GENETestsBCL2A1
Huge Navigator BCL2A1 [HugePedia]
snp3D : Map Gene to Disease597
BioCentury BCIQBCL2A1
ClinGenBCL2A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD597
Chemical/Pharm GKB GenePA25303
Clinical trialBCL2A1
Miscellaneous
canSAR (ICR)BCL2A1 (select the gene name)
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBCL2A1
EVEXBCL2A1
GoPubMedBCL2A1
iHOPBCL2A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:57:26 CET 2017

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