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 mito... See more...

Aliases for BCL2A1 Gene

Aliases for BCL2A1 Gene

  • BCL2 Related Protein A1 2 3 5
  • BCL2L5 2 3 4
  • BFL1 2 3 4
  • GRS 2 3 4
  • Hemopoietic-Specific Early Response Protein 3 4
  • Bcl-2-Related Protein A1 3 4
  • Bcl-2-Like Protein 5 3 4
  • Protein BFL-1 3 4
  • Bcl2-L-5 3 4
  • ACC-1 2 3
  • ACC-2 2 3
  • HBPA1 3 4
  • ACC1 2 3
  • ACC2 2 3
  • Hematopoietic BCL2-Related Protein A1 3
  • Protein GRS 4
  • BCL2A1 5

External Ids for BCL2A1 Gene

Previous HGNC Symbols for BCL2A1 Gene

  • HBPA1

Previous GeneCards Identifiers for BCL2A1 Gene

  • GC15M076214
  • GC15M073410
  • GC15M077829
  • GC15M077969
  • GC15M078040
  • GC15M080256
  • GC15M057011

Summaries for BCL2A1 Gene

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 Gingival Recession and Conn's Syndrome. Among its related pathways are RANK Signaling in Osteoclasts and B Cell Receptor Signaling Pathway (sino). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and BH domain binding. An important paralog of this gene is BCL2L1.

UniProtKB/Swiss-Prot Summary for BCL2A1 Gene

  • 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). Can inhibit apoptosis induced by serum starvation in the mammary epithelial cell line HC11 (By similarity).

Gene Wiki entry for BCL2A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCL2A1 Gene

Genomics for BCL2A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BCL2A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J079964 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 281.5 +2.8 2801 7.6 SP1 BCL11A POLR2A HOMEZ SIN3A GABPA FOXA2 IRF4 TRIM22 MAFF BCL2A1 MTHFS ST20-MTHFS ST20 RNU6-667P ENSG00000259495 ZFAND6 RF00017-1865 NONHSAG017602.2
GH15J080058 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 260.7 -89.8 -89764 5.1 CHD2 TBP SP1 CEBPA MNT IKZF1 SMAD5 ETS1 IRF2 ZNF217 BCL2A1 NONHSAG017605.2 lnc-BCL2A1-4 ZFAND6 ENSG00000259649 FAH TLNRD1 HSALNG0107577
GH15J079974 Enhancer 0.9 ENCODE dbSUPER 250.7 -2.0 -1978 0.2 CEBPA FOXA2 SMAD4 RXRA RARA ZBTB33 THRB BCL6 JUND HNF4A BCL2A1 lnc-BCL2A1-2 ZFAND6
GH15J079976 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.6 -8.6 -8630 6 BCL11A CEBPA NONO HOMEZ KDM6A THAP11 SIN3A FOXA2 NBN IRF4 lnc-BCL2A1-3 BCL2A1 ST20 ZFAND6 lnc-BCL2A1-2 lnc-ZFAND6-5
GH15J079900 Enhancer 0.7 FANTOM5 ENCODE 45.9 +70.9 70918 0.3 ZNF687 CREM RUNX3 ETV6 MLLT1 ENSG00000288592 HSALNG0107565 BCL2A1 RNU6-667P ST20-MTHFS ZFAND6 MTHFS ST20 ENSG00000278600
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCL2A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCL2A1

Top Transcription factor binding sites by QIAGEN in the BCL2A1 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • C/EBPbeta
  • CREB
  • deltaCREB
  • TBP

Genomic Locations for BCL2A1 Gene

Latest Assembly
chr15:79,960,892-79,971,196
(GRCh38/hg38)
Size:
10,305 bases
Orientation:
Minus strand

Previous Assembly
chr15:80,253,234-80,263,538
(GRCh37/hg19 by Entrez Gene)
Size:
10,305 bases
Orientation:
Minus strand

chr15:80,253,231-80,263,788
(GRCh37/hg19 by Ensembl)
Size:
10,558 bases
Orientation:
Minus strand

Genomic View for BCL2A1 Gene

Genes around BCL2A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL2A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL2A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL2A1 Gene

Proteins for BCL2A1 Gene

  • Protein details for BCL2A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16548-B2LA1_HUMAN
    Recommended name:
    Bcl-2-related protein A1
    Protein Accession:
    Q16548
    Secondary Accessions:
    • Q6FGZ4
    • Q6FH19
    • Q86W13
    • Q99524

    Protein attributes for BCL2A1 Gene

    Size:
    175 amino acids
    Molecular mass:
    20132 Da
    Quaternary structure:
    • 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 RTL10/BOP. Interacts with ING4 (By similarity).

    Three dimensional structures from OCA and Proteopedia for BCL2A1 Gene

    Alternative splice isoforms for BCL2A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCL2A1 Gene

Post-translational modifications for BCL2A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BCL2A1 Gene

No data available for DME Specific Peptides for BCL2A1 Gene

Domains & Families for BCL2A1 Gene

Gene Families for BCL2A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for BCL2A1 Gene

InterPro:
Blocks:
  • Apoptosis regulator Bcl-2 protein, BH
ProtoNet:

Suggested Antigen Peptide Sequences for BCL2A1 Gene

GenScript: Design optimal peptide antigens:
  • Protein GRS (B2LA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16548

UniProtKB/Swiss-Prot:

B2LA1_HUMAN :
  • Belongs to the Bcl-2 family.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BCL2A1: view

Function for BCL2A1 Gene

Molecular function for BCL2A1 Gene

UniProtKB/Swiss-Prot 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). Can inhibit apoptosis induced by serum starvation in the mammary epithelial cell line HC11 (By similarity).
UniProtKB/Swiss-Prot Induction:
By phorbol ester and inflammatory cytokines, such as TNF or IL1B/interleukin-1 beta, but not by growth factors.
GENATLAS Biochemistry:
BCL2 related gene,isolated from a fetal liver,predominantly expressed in bone marrow,involved in regulation of apoptosis,murine A1 homolog

Phenotypes From GWAS Catalog for BCL2A1 Gene

Gene Ontology (GO) - Molecular Function for BCL2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10753914
GO:0042803 protein homodimerization activity IBA 21873635
GO:0044877 protein-containing complex binding IEA --
GO:0046982 protein heterodimerization activity IBA 21873635
GO:0051400 BH domain binding IEA --
genes like me logo Genes that share ontologies with BCL2A1: view
genes like me logo Genes that share phenotypes with BCL2A1: view

Animal Models for BCL2A1 Gene

MGI Knock Outs for BCL2A1:

Animal Models for research

miRNA for BCL2A1 Gene

miRTarBase miRNAs that target BCL2A1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCL2A1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCL2A1 Gene

Localization for BCL2A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL2A1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BCL2A1 gene
Compartment Confidence
mitochondrion 4
cytosol 4
nucleus 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BCL2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005741 mitochondrial outer membrane IBA 21873635
genes like me logo Genes that share ontologies with BCL2A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BCL2A1 Gene

Pathways & Interactions for BCL2A1 Gene

genes like me logo Genes that share pathways with BCL2A1: view

Pathways by source for BCL2A1 Gene

3 GeneGo (Thomson Reuters) pathways for BCL2A1 Gene
  • Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
  • Apoptosis and survival APRIL and BAFF signaling
  • Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins
1 Qiagen pathway for BCL2A1 Gene
  • DHA Signaling
1 Cell Signaling Technology pathway for BCL2A1 Gene

SIGNOR curated interactions for BCL2A1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BCL2A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007568 aging IEA --
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IBA 21873635
GO:0021987 cerebral cortex development IEA --
GO:0042981 regulation of apoptotic process IEA --
genes like me logo Genes that share ontologies with BCL2A1: view

Drugs & Compounds for BCL2A1 Gene

(16) Drugs for BCL2A1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for BCL2A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BCL2A1: view

Transcripts for BCL2A1 Gene

mRNA/cDNA for BCL2A1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCL2A1

Alternative Splicing Database (ASD) splice patterns (SP) for BCL2A1 Gene

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

Relevant External Links for BCL2A1 Gene

GeneLoc Exon Structure for
BCL2A1

Expression for BCL2A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCL2A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BCL2A1 Gene

This gene is overexpressed in Whole Blood (x26.8).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCL2A1

SOURCE GeneReport for Unigene cluster for BCL2A1 Gene:

Hs.227817

mRNA Expression by UniProt/SwissProt for BCL2A1 Gene:

Q16548-B2LA1_HUMAN
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.

Evidence on tissue expression from TISSUES for BCL2A1 Gene

  • Blood(4.7)
  • Liver(4.5)
  • Skin(4.4)
  • Bone marrow(3.2)
  • Nervous system(3)
  • Spleen(2.9)
  • Intestine(2.8)
  • Lung(2.8)
  • Lymph node(2.8)
  • Adrenal gland(2.5)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with BCL2A1: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL2A1 Gene

Orthologs for BCL2A1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCL2A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BCL2A1 30 31
  • 98.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BCL2A1 30 31
  • 81.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bcl2a1 30
  • 81.03 (n)
Mouse
(Mus musculus)
Mammalia Bcl2a1d 30 17 31
  • 78.49 (n)
OneToMany
Bcl2a1a 17 31
  • 72 (a)
OneToMany
Bcl2a1b 17 31
  • 72 (a)
OneToMany
Bcl2a1c 31
  • 56 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia BCL2A1 30 31
  • 77.07 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BCL2A1 31
  • 61 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BCL2A1 31
  • 56 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BCL2A1 30 31
  • 60.89 (n)
OneToOne
Species where no ortholog for BCL2A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for BCL2A1 Gene

ENSEMBL:
Gene Tree for BCL2A1 (if available)
TreeFam:
Gene Tree for BCL2A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCL2A1: view image

Paralogs for BCL2A1 Gene

Paralogs for BCL2A1 Gene

genes like me logo Genes that share paralogs with BCL2A1: view

Variants for BCL2A1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCL2A1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs112191286 Benign: not provided 79,961,182(-) A/C
NM_004049.4(BCL2A1):c.421-8T>G
INTRON
rs34505045 Benign: not provided 79,971,021(-) C/T
NM_004049.4(BCL2A1):c.99G>A (p.Thr33=)
SYNONYMOUS
rs1138357 - p.Cys19Tyr
rs1138358 - p.Asn39Lys
rs34080999 - p.Glu117Asp

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BCL2A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for BCL2A1 Gene

Variant ID Type Subtype PubMed ID
nsv833065 CNV loss 17160897
nsv833066 CNV loss 17160897
nsv952007 CNV duplication 24416366

Variation tolerance for BCL2A1 Gene

Residual Variation Intolerance Score: 57.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.84; 89.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCL2A1 Gene

Human Gene Mutation Database (HGMD)
BCL2A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL2A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL2A1 Gene

Disorders for BCL2A1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for BCL2A1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
gingival recession
  • gingival recession, localized
conn's syndrome
  • conn syndrome
endometrial cancer
  • endometrial cancer, familial
anxiety
  • anxiety disorder
human immunodeficiency virus type 1
  • human immunodeficiency virus type 1, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BCL2A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with BCL2A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCL2A1 Gene

Publications for BCL2A1 Gene

  1. Completing the family portrait of the anti-apoptotic Bcl-2 proteins: crystal structure of human Bfl-1 in complex with Bim. (PMID: 18812174) Herman MD … Nordlund P (FEBS letters 2008) 3 4 23
  2. Polymorphisms of the Bcl-2 family member bfl-1 in children with atopic dermatitis. (PMID: 17121585) Gray A … Arkwright PD (Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2006) 3 23 41
  3. Identification of a polymorphic gene, BCL2A1, encoding two novel hematopoietic lineage-specific minor histocompatibility antigens. (PMID: 12771180) Akatsuka Y … Takahashi T (The Journal of experimental medicine 2003) 2 3 23
  4. A novel Bcl-2 related gene, Bfl-1, is overexpressed in stomach cancer and preferentially expressed in bone marrow. (PMID: 7478596) Choi SS … Shin HS (Oncogene 1995) 3 4 23
  5. Defective ubiquitin-mediated degradation of antiapoptotic Bfl-1 predisposes to lymphoma. (PMID: 20185581) Fan G … Gélinas C (Blood 2010) 3 23

Products for BCL2A1 Gene

Sources for BCL2A1 Gene