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BCL2A1 (BCL2 related protein A1)

Identity

Alias (NCBI)ACC-1
ACC-2
ACC1
ACC2
BCL2L5
BFL1
GRS
HBPA1
HGNC (Hugo) BCL2A1
HGNC Alias symbGRS
BFL1
BCL2L5
ACC-1
ACC-2
ACC2
ACC1
HGNC Previous nameHBPA1
LocusID (NCBI) 597
Atlas_Id 770
Location 15q25.1  [Link to chromosome band 15q25]
Location_base_pair Starts at 79960892 and ends at 79971196 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)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;18)(p11;q21)IGK::BCL2 and IGK::KDSR
t(14;15)(q32;q25) IGH::BCL2A1


External links

 

Nomenclature
HGNC (Hugo)BCL2A1   991
Cards
Entrez_Gene (NCBI)BCL2A1    BCL2 related protein A1
AliasesACC-1; ACC-2; ACC1; ACC2; 
BCL2L5; BFL1; GRS; HBPA1
GeneCards (Weizmann)BCL2A1
Ensembl hg19 (Hinxton)ENSG00000140379 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140379 [Gene_View]  ENSG00000140379 [Sequence]  chr15:79960892-79971196 [Contig_View]  BCL2A1 [Vega]
ICGC DataPortalENSG00000140379
TCGA cBioPortalBCL2A1
AceView (NCBI)BCL2A1
Genatlas (Paris)BCL2A1
SOURCE (Princeton)BCL2A1
Genetics Home Reference (NIH)BCL2A1
Genomic and cartography
GoldenPath hg38 (UCSC)BCL2A1  -     chr15:79960892-79971196 -  15q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BCL2A1  -     15q25.1   [Description]    (hg19-Feb_2009)
GoldenPathBCL2A1 - 15q25.1 [CytoView hg19]  BCL2A1 - 15q25.1 [CytoView hg38]
ImmunoBaseENSG00000140379
Genome Data Viewer NCBIBCL2A1 [Mapview hg19]  
OMIM601056   
Gene and transcription
Genbank (Entrez)AL110097 AY234180 BC016281 BG198875 BG204033
RefSeq transcript (Entrez)NM_001114735 NM_004049
Consensus coding sequences : CCDS (NCBI)BCL2A1
Gene ExpressionBCL2A1 [ NCBI-GEO ]   BCL2A1 [ EBI - ARRAY_EXPRESS ]   BCL2A1 [ SEEK ]   BCL2A1 [ MEM ]
Gene Expression Viewer (FireBrowse)BCL2A1 [ Firebrowse - Broad ]
GenevisibleExpression of BCL2A1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)597
GTEX Portal (Tissue expression)BCL2A1
Human Protein AtlasENSG00000140379-BCL2A1 [pathology]   [cell]   [tissue]
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
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-like_sf    Blc2_fam   
Domain families : Pfam (Sanger)Bcl-2 (PF00452)   
Domain families : Pfam (NCBI)pfam00452   
Domain families : Smart (EMBL)BCL (SM00337)  
Conserved Domain (NCBI)BCL2A1
PDB (RSDB)2VM6    3I1H    3MQP    4ZEQ    5UUK    5UUL    5UUP    5WHH    5WHI    6E3I    6E3J    6MBB    6MBC    6RJP    6VO4   
PDB Europe2VM6    3I1H    3MQP    4ZEQ    5UUK    5UUL    5UUP    5WHH    5WHI    6E3I    6E3J    6MBB    6MBC    6RJP    6VO4   
PDB (PDBSum)2VM6    3I1H    3MQP    4ZEQ    5UUK    5UUL    5UUP    5WHH    5WHI    6E3I    6E3J    6MBB    6MBC    6RJP    6VO4   
PDB (IMB)2VM6    3I1H    3MQP    4ZEQ    5UUK    5UUL    5UUP    5WHH    5WHI    6E3I    6E3J    6MBB    6MBC    6RJP    6VO4   
Structural Biology KnowledgeBase2VM6    3I1H    3MQP    4ZEQ    5UUK    5UUL    5UUP    5WHH    5WHI    6E3I    6E3J    6MBB    6MBC    6RJP    6VO4   
SCOP (Structural Classification of Proteins)2VM6    3I1H    3MQP    4ZEQ    5UUK    5UUL    5UUP    5WHH    5WHI    6E3I    6E3J    6MBB    6MBC    6RJP    6VO4   
CATH (Classification of proteins structures)2VM6    3I1H    3MQP    4ZEQ    5UUK    5UUL    5UUP    5WHH    5WHI    6E3I    6E3J    6MBB    6MBC    6RJP    6VO4   
SuperfamilyQ16548
AlphaFold pdb e-kbQ16548   
Human Protein Atlas [tissue]ENSG00000140379-BCL2A1 [tissue]
HPRD03034
Protein Interaction databases
DIP (DOE-UCLA)Q16548
IntAct (EBI)Q16548
BioGRIDBCL2A1
STRING (EMBL)BCL2A1
ZODIACBCL2A1
Ontologies - Pathways
QuickGOQ16548
Ontology : AmiGOprotein binding  mitochondrial outer membrane  cytosol  intrinsic apoptotic signaling pathway in response to DNA damage  protein homodimerization activity  negative regulation of apoptotic process  protein heterodimerization activity  extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBIprotein binding  mitochondrial outer membrane  cytosol  intrinsic apoptotic signaling pathway in response to DNA damage  protein homodimerization activity  negative regulation of apoptotic process  protein heterodimerization activity  extrinsic apoptotic signaling pathway in absence of ligand  
NDEx NetworkBCL2A1
Atlas of Cancer Signalling NetworkBCL2A1
Wikipedia pathwaysBCL2A1
Orthology - Evolution
OrthoDB597
GeneTree (enSembl)ENSG00000140379
Phylogenetic Trees/Animal Genes : TreeFamBCL2A1
Homologs : HomoloGeneBCL2A1
Homology/Alignments : Family Browser (UCSC)BCL2A1
Gene fusions - Rearrangements
Fusion : MitelmanEPB41L1::BCL2A1 [20q11.23/15q25.1]  
Fusion : MitelmanMTHFS::BCL2A1 [15q25.1/15q25.1]  
Fusion : QuiverBCL2A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBCL2A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BCL2A1
dbVarBCL2A1
ClinVarBCL2A1
MonarchBCL2A1
1000_GenomesBCL2A1 
Exome Variant ServerBCL2A1
GNOMAD BrowserENSG00000140379
Varsome BrowserBCL2A1
ACMGBCL2A1 variants
VarityQ16548
Genomic Variants (DGV)BCL2A1 [DGVbeta]
DECIPHERBCL2A1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DBCL2A1
Mutations and Diseases : HGMDBCL2A1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBCL2A1
DgiDB (Drug Gene Interaction Database)BCL2A1
DoCM (Curated mutations)BCL2A1
CIViC (Clinical Interpretations of Variants in Cancer)BCL2A1
Cancer3DBCL2A1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601056   
Orphanet
DisGeNETBCL2A1
MedgenBCL2A1
Genetic Testing Registry BCL2A1
NextProtQ16548 [Medical]
GENETestsBCL2A1
Target ValidationBCL2A1
Huge Navigator BCL2A1 [HugePedia]
ClinGenBCL2A1
Clinical trials, drugs, therapy
MyCancerGenomeBCL2A1
Protein Interactions : CTDBCL2A1
Pharm GKB GenePA25303
PharosQ16548
Clinical trialBCL2A1
Miscellaneous
canSAR (ICR)BCL2A1
HarmonizomeBCL2A1
ARCHS4BCL2A1
DataMed IndexBCL2A1
Probes
Litterature
PubMed102 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBCL2A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 12:24:19 CET 2022

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