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BCL2A1 Gene

protein-coding   GIFtS: 64
GCID: GC15M080256

BCL2-Related Protein A1


(Previous symbol: HBPA1)
  See BCL2A1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BCL2-Related Protein A11 2     ACC-12
HBPA11 2 3     ACC-22
Bcl-2-Like Protein 52 3     Bcl-2-Related Protein A12
Hemopoietic-Specific Early Response Protein2 3     bcl2-L-52
Protein BFL-12 3     Hematopoietic BCL2-Related Protein A12
BCL2L52 3     Bcl2-L-53
BFL12 3     Protein GRS3
GRS2 3     

External Ids:    HGNC: 9911   Entrez Gene: 5972   Ensembl: ENSG000001403797   OMIM: 6010565   UniProtKB: Q165483   

Export aliases for BCL2A1 gene to outside databases

Previous GC identifers: GC15M076214 GC15M073410 GC15M077829 GC15M077969 GC15M078040 GC15M057011


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BCL2A1 Gene:
This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and
act as anti- and pro-apoptotic regulators that are involved in a wide variety of cellular activities such as
embryonic development, homeostasis and tumorigenesis. The protein encoded by this gene is able to reduce the
release of pro-apoptotic cytochrome c from mitochondria and block caspase activation. This gene is a direct
transcription target of NF-kappa B in response to inflammatory mediators, and is up-regulated by different
extracellular signals, such as granulocyte-macrophage colony-stimulating factor (GM-CSF), CD40, phorbol ester and
inflammatory cytokine TNF and IL-1, which suggests a cytoprotective function that is essential for lymphocyte
activation as well as cell survival. Alternatively spliced transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for BCL2A1 Gene:
BCL2A1 (BCL2-related protein A1) is a protein-coding gene. Diseases associated with BCL2A1 include cortisol resistance, and glucocorticoid resistance.

UniProtKB/Swiss-Prot: B2LA1_HUMAN, Q16548
Function: Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to
external signals and in maintaining endothelial survival during infection (By similarity)

Gene Wiki entry for BCL2A1 (BCL2-related protein A1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the BCL2A1 gene promoter:
         CREB   c-Fos   TBP   C/EBPbeta   AP-1   ATF-2   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCL2A1 promoter sequence
   Search Chromatin IP Primers for BCL2A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCL2A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q24.3   Ensembl cytogenetic band:  15q25.1   HGNC cytogenetic band: 15q24.3

BCL2A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCL2A1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M080256:  view genomic region     (about GC identifiers)

Start:
80,253,231 bp from pter      End:
80,263,788 bp from pter
Size:
10,558 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: B2LA1_HUMAN, Q16548 (See protein sequence)
Recommended Name: Bcl-2-related protein A1  
Size: 175 amino acids; 20132 Da
Subunit: Interacts directly with BAK1, BID, BMF and BBC3 (By similarity). Interacts directly with BCL2L11/BIM.
Interacts with BAX isoform Sigma. Interacts directly with PMAIP1. Interacts with BOP/C22orf29
3 PDB 3D structures from and Proteopedia for BCL2A1:
2VM6 (3D)        3I1H (3D)        3MQP (3D)    
Secondary accessions: Q6FGZ4 Q6FH19 Q86W13 Q99524
Alternative splicing: 2 isoforms:  Q16548-1   Q16548-2   

Explore the universe of human proteins at neXtProt for BCL2A1: NX_Q16548

Explore proteomics data for BCL2A1 at MOPED


See BCL2A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001108207.1  NP_004040.1  

ENSEMBL proteins: 
 ENSP00000267953   ENSP00000335250  

BCL2A1 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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5 InterPro protein domains:
 IPR013282 Bcl2A1
 IPR020717 Bcl2_BH1_motif_CS
 IPR020726 Bcl2_BH2_motif_CS
 IPR002475 Bcl2-like
 IPR026298 Blc2_fam

Graphical View of Domain Structure for InterPro Entry Q16548

ProtoNet protein and cluster: Q16548

1 Blocks protein domain: IPB000712 Apoptosis regulator Bcl-2 protein

UniProtKB/Swiss-Prot: B2LA1_HUMAN, Q16548
Similarity: Belongs to the Bcl-2 family


Find genes that share domains with BCL2A1           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: B2LA1_HUMAN, Q16548
Function: Retards apoptosis induced by IL-3 deprivation. May function in the response of hemopoietic cells to
external signals and in maintaining endothelial survival during infection (By similarity)
Induction: By phorbol ester and inflammatory cytokines, such as TNF or IL1B/interleukin-1 beta, but not by growth
factors

     Genatlas biochemistry entry for BCL2A1:
BCL2 related gene,isolated from a fetal liver,predominantly expressed in bone marrow,involved in regulation of
apoptosis,murine A1 homolog

     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI10753914
GO:0042803protein homodimerization activity IBA--
GO:0046982protein heterodimerization activity IBA--
GO:0051400BH domain binding IEA--
     
Find genes that share ontologies with BCL2A1           About GenesLikeMe


Phenotypes:
     1 GenomeRNAi human phenotype for BCL2A1:
 Decreased cell number 

     4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bcl2a1a):
 hematopoietic system  immune system  integument  mortality/aging 

Find genes that share phenotypes with BCL2A1           About GenesLikeMe

Animal Models:
     MGI mouse knock-outs for BCL2A1: Bcl2a1atm1Orlf Bcl2a1atm1Sen

   genOway: Develop your customized and physiologically relevant rodent model for BCL2A1

miRNA
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miRTarBase miRNAs that target BCL2A1:
hsa-mir-146a-5p (MIRT021264), hsa-mir-335-5p (MIRT017218)

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1 qRT-PCR Assays for microRNA that regulate BCL2A1:
hsa-miR-664
SwitchGear 3'UTR luciferase reporter plasmidBCL2A1 3' UTR sequence
Inhib. RNA
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Addgene plasmids for BCL2A1 

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
B2LA1_HUMAN, Q16548: Cytoplasm
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
nucleus2
extracellular1
mitochondrion1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005741mitochondrial outer membrane IBA--

Find genes that share ontologies with BCL2A1           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for BCL2A1 About   (see all 10)  
See pathways by source

SuperPathContained pathways About
1Apoptotic Pathways in Synovial Fibroblasts
DHA Signaling0.74
2TNF Signaling
Death Receptor Signaling0.50
3Apoptosis and survival Anti apoptotic TNFs NF kB Bcl 2 pathway
Apoptosis and survival Anti apoptotic TNFs NF kB Bcl 2 pathway0.46
4B cell receptor signaling pathway (KEGG)
BCR signaling pathway0.42
5RANK Signaling in Osteoclasts
Apoptosis and survival APRIL and BAFF signaling0.39


Find genes that share SuperPaths with BCL2A1           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for BCL2A1
    DHA Signaling

3 GeneGo (Thomson Reuters) Pathways for BCL2A1
    Apoptosis and survival APRIL and BAFF signaling
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

3 BioSystems Pathways for BCL2A1
    Apoptosis Modulation and Signaling
Direct p53 effectors
BCR signaling pathway

1 Sino Biological Pathway for BCL2A1
    Death Receptor Signaling


2 Kegg Pathways  (Kegg details for BCL2A1):
    NF-kappa B signaling pathway
Transcriptional misregulation in cancer

    Pathway & Disease-focused RT2 Profiler PCR Arrays including BCL2A1 (see all 8): 
          NFKB Signaling Targets in human mouse rat
          Apoptosis in human mouse rat
          Atherosclerosis in human mouse rat
          NFKB Signaling Pathway in human mouse rat
          p53 Signaling Pathway in human mouse rat

Interactions:

    GeneGlobe Interaction Network for BCL2A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

Selected Interacting proteins for BCL2A1 (Q165482, 3 ENSP000002679534) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
InteractantInteraction Details
GeneCardExternal ID(s)
BAXQ078123, ENSP000002932884I2D: score=4 STRING: ENSP00000293288
BBC3Q9BXH13, ENSP000004045034I2D: score=4 STRING: ENSP00000404503
PMAIP1Q137943, ENSP000003261194I2D: score=4 STRING: ENSP00000326119
BADQ929343, ENSP000003091034I2D: score=3 STRING: ENSP00000309103
BAK1Q166113, ENSP000003635914I2D: score=2 STRING: ENSP00000363591
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Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage IBA--
GO:0042981regulation of apoptotic process ----
GO:0043066negative regulation of apoptotic process IBA--
GO:0097192extrinsic apoptotic signaling pathway in absence of ligand IBA--
GO:2001243negative regulation of intrinsic apoptotic signaling pathway IBA--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
Selected ApexBio Compounds for BCL2A1 (see all 19)     About this table
CompoundAction CAS #
2,3-DCPE hydrochlorideSelectively induces apoptosis and downregulates Bcl-XL protein expression in various human cancer cells versus normal cells in vitro[418788-90-6]
ABT-199Selective Bcl-2 inhibitor[1257044-40-8]
ABT-263 (Navitoclax)orally sellecitive inhibitor of Bcl-2 family proteins[923564-51-6]
ABT-737novel and potent inhibitor of BCL-2 family proteins[852808-04-9]
Apogossypolone (ApoG2)pan Bcl-2 inhibitor[886578-07-0]
AT-101R-(-) enantiomer of Gossypol acetic acid, binds with Bcl-2, Bcl-xL and Mcl-1[90141-22-3]
Bax channel blockerPotent inhibitor of Bax-mediated mitochondrial cytochrome c release[335165-68-9]
Bax inhibitor peptide P5Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria[579492-83-4]
Bax inhibitor peptide V5Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria[579492-81-2]
Bax inhibitor peptide, negative controlNegative control peptide for the Bax inhibitor peptides V5 and P5[1315378-74-5]

Browse Tocris compounds for BCL2A1 (B2LA1)

Selected Novoseek inferred chemical compound relationships for BCL2A1 gene (see all 20)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
mifepristone 67.8 9 15736964 (2), 9880517 (1), 19048455 (1), 15564339 (1) (see all 6)
dexamethasone 63.1 13 12657604 (2), 18515658 (2), 16543270 (1), 19048455 (1) (see all 6)
corticosterone 56.4 16 9626555 (4), 19261881 (2), 8274434 (1), 19202080 (1) (see all 5)
dexamethasone sodium phosphate 56.3 1 17307208 (1)
steroid 54.7 6 15358110 (1), 17116691 (1), 15736964 (1), 8190832 (1) (see all 6)
molybdate 37.2 2 8838140 (1)
retinoid 35 3 15774497 (1), 15016838 (1)
clenbuterol 33.5 1 17307208 (1)
progesterone 29 12 15736964 (2), 15774497 (1), 18215457 (1), 17571860 (1) (see all 8)
acth 12.9 1 9629309 (1)



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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for BCL2A1 gene (2 alternative transcripts): 
NM_001114735.1  NM_004049.3  

Unigene Cluster for BCL2A1:

BCL2-related protein A1
Hs.227817  [show with all ESTs]
Unigene Representative Sequence: AK304026
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000267953(uc002bfd.4 uc002bfc.4) ENST00000335661
miRNA
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hsa-miR-664
SwitchGear 3'UTR luciferase reporter plasmidBCL2A1 3' UTR sequence
Inhib. RNA
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Addgene plasmids for BCL2A1 
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  QuantiFast Probe-based Assays in human, mouse, rat BCL2A1

Additional mRNA sequence: 

AK304026.1 AL110097.1 AY234180.1 BC016281.1 BT007103.1 CR541937.1 CR541962.1 U27467.1 
U29680.1 Y09397.1 

3 DOTS entries:

DT.111931  DT.97836197  DT.95264169 

Selected AceView cDNA sequences (see all 66):

BC016281 CR541937 R29263 AI202978 U27467 BT007103 BU532682 BG191711 
NM_004049 BE891853 BG204033 U29680 AA255905 BF677029 AV716118 AY234180 
D20314 AI470744 AL110097 CD641380 BG216703 AI654170 CD522849 AA256018 

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for BCL2A1    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:                              
SP2:              -               


ECgene alternative splicing isoforms for BCL2A1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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BCL2A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAATGAATAA
BCL2A1 Expression
About this image


BCL2A1 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 6) fully expand
 
 Blood (Hematopoietic System)
         Granulocytes Peripheral Blood
 
 Thymus (Hematopoietic System)
         Thymus
 
 Heart (Cardiovascular System)
         Cardiac Fibroblasts Myocardium
 
 Fibroblasts
         Cardiac Fibroblasts Myocardium
 
 Endothelium (Cardiovascular System)
         Human umbilical vein endothelial cells (HUVEC)
BCL2A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

BCL2A1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.227817

UniProtKB/Swiss-Prot: B2LA1_HUMAN, Q16548
Tissue specificity: Seems to be restricted to the hematopoietic compartment. Expressed in peripheral blood,
spleen, and bone marrow, at moderate levels in lung, small intestine and testis, at a minimal levels in other
tissues. Also found in vascular smooth muscle cells and hematopoietic malignancies

    Pathway & Disease-focused RT2 Profiler PCR Arrays including BCL2A1 (see all 8): 
          NFKB Signaling Targets in human mouse rat
          Apoptosis in human mouse rat
          Atherosclerosis in human mouse rat
          NFKB Signaling Pathway in human mouse rat
          p53 Signaling Pathway in human mouse rat

Primer
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QuantiFast Probe-based Assays in human, mouse, rat BCL2A1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCL2A1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for BCL2A1 gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Bcl2a1a5
Bcl2a1d1
B cell leukemia/lymphoma 2 related protein A1a5
B cell leukemia/lymphoma 2 related protein A1d1
78.49(n)1
72.67(a)1
  9 (47.24 cM)5
120471  NM_007536.21  NP_031562.11 
 889569205 
chicken
(Gallus gallus)
Aves BCL2A11 BCL2-related protein A1 60.89(n)
46.24(a)
  395673  NM_204866.1  NP_990197.1 


ENSEMBL Gene Tree for BCL2A1 (if available)
TreeFam Gene Tree for BCL2A1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for BCL2A1 (see all 272)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 15 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1882140161,2
--60291018(+) CCAAAC/TGTCAA 2 -- ds50010--------
rs1396103081,2
--60291020(+) AAATGG/TCAAGC 2 -- ds50010--------
rs1497537801,2
--60291220(+) ACACCC/TGAAAG 2 -- ds50010--------
rs1929427791,2
C--60291278(+) ATAATC/TAATTG 2 -- ds50010--------
rs761898831,2
C--60291324(+) ATTTCC/TAGCCA 2 -- ds50013Minor allele frequency- T:0.10CSA WA EA 240
rs1846329371,2
--60291393(+) ACATGA/GGGACA 2 -- ut310--------
rs29575701,2
H--60291406(+) ATTTCC/TATAAC 2 -- ut31 ese34Minor allele frequency- T:0.00NS EA 420
rs1478209251,2
--60291447(+) GTTTAC/TTTAAA 2 -- ut310--------
rs2010304011,2
--60291498(+) AAAAAG/TTAGGC 2 -- ut310--------
rs2006076891,2
--60291501(+) AATTAC/GGCCGG 2 -- ut310--------

HapMap Linkage Disequilibrium report for BCL2A1 (80253231 - 80263788 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for BCL2A1:    About this table    
Variant IDTypeSubtypePubMed ID
nsv833065CNV Loss17160897
nsv833066CNV Loss17160897
nsv904435CNV Gain21882294

Human Gene Mutation Database (HGMD): BCL2A1
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing BCL2A1
DNA2.0 Custom Variant and Variant Library Synthesis for BCL2A1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 601056    OMIM disorders: --

4 diseases for BCL2A1:    
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cortisol resistance    glucocorticoid resistance    stomach cancer    non-hodgkin lymphoma


Find genes that share disorders with BCL2A1           About GenesLikeMe

Selected Novoseek inferred disease relationships for BCL2A1 gene (see all 20)    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
lymphocytic leukemia chronic b-cell 36 2 19595676 (1), 15499630 (1)
hypercortisolism 25.4 1 9629309 (1)
major depression 20.5 1 18037007 (1)
depressive disorder 18.5 3 12655328 (1), 8543464 (1)
osteosarcoma 17.6 1 9494579 (1)
myeloma 10.3 1 18515658 (1)
stress disorders posttraumatic 9.28 2 14666121 (1), 18037007 (1)
leukemia 0 3 20185581 (2), 9494579 (1)
necrosis 0 2 17724464 (1), 8669484 (1)
shock 0 1 8838140 (1)

Genetic Association Database (GAD): BCL2A1
Human Genome Epidemiology (HuGE) Navigator: BCL2A1 (16 documents)

Export disorders for BCL2A1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for BCL2A1 gene, integrated from 10 sources (see all 236):
(articles sorted by number of sources associating them with BCL2A1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Polymorphisms of the Bcl-2 family member bfl-1 in children with atopic dermatitis. (PubMed id 17121585)1, 4, 9 Gray A....Arkwright P.D. (Pediatr Allergy Immunol 2006)
  2. A novel Bcl-2 related gene, Bfl-1, is overexpressed in stomach cancer and preferentially expressed in bone marrow. (PubMed id 7478596)1, 2, 9 Choi S.S.... Shin H.-S. (Oncogene 1995)
  3. Identification of a polymorphic gene, BCL2A1, encoding two novel hematopoietic lineage-specific minor histocompatibility antigens. (PubMed id 12771180)1, 3, 9 Akatsuka Y....Takahashi T. (J. Exp. Med. 2003)
  4. Completing the family portrait of the anti-apoptotic Bcl-2 proteins: crystal structure of human Bfl-1 in complex with Bim. (PubMed id 18812174)1, 2, 9 Herman M.D.... Nordlund P. (FEBS Lett. 2008)
  5. Degree of predicted minor histocompatibility antigen mismatch correlates with poorer clinical outcomes in nonmyeloablative allogeneic hematopoietic cell transplantation. (PubMed id 20353833)1, 4 Larsen M.E....Vindelov L. (Biol. Blood Marrow Transplant. 2010)
  6. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (Mutat. Res. 2010)
  7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
  8. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PubMed id 20855536)1, 4 Kelly J.L....Cerhan J.R. (amp 2010)
  9. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
  10. Common genetic variants in candidate genes and risk of familial lymphoid malignancies. (PubMed id 19573080)1, 4 Liang X.S....Goldin L.R. (Br. J. Haematol. 2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 597 HGNC: 991 AceView: BCL2A1 Ensembl:ENSG00000140379 euGenes: HUgn597
ECgene: BCL2A1 Kegg: 597 H-InvDB: BCL2A1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for BCL2A1 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BCL2A1 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for BCL2A1 gene:
Search GeneIP for patents involving BCL2A1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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