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Aliases for BCL2A1 Gene

Aliases for BCL2A1 Gene

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

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 Glucocorticoid Resistance and Robinow Syndrome, Autosomal Recessive. Among its related pathways are RANK Signaling in Osteoclasts and B Cell Receptor Signaling Pathway (sino). GO annotations related to this gene include protein homodimerization activity and BH domain binding.

UniProtKB/Swiss-Prot 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

Additional gene information for BCL2A1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCL2A1 Gene

Genomics for BCL2A1 Gene

Regulatory Elements for BCL2A1 Gene

Enhancers for BCL2A1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15H079964 1.6 FANTOM5 ENCODE dbSUPER 31.6 +3.1 3124 7.5 HDGF PKNOX1 FOXA2 SIN3A ZNF143 ZNF207 FOS ATF7 RUNX3 JUNB BCL2A1 MTHFS ST20-MTHFS ST20 RNU6-667P LOC101929560 ZFAND6 GC15P079945
GH15H079900 0.9 FANTOM5 ENCODE 45.9 +71.2 71169 0.3 ZNF687 MLLT1 ETV6 RUNX3 CREM BCL2A1 RNU6-667P ST20-MTHFS ZFAND6 MTHFS ST20 GC15M079918
GH15H079961 1.6 FANTOM5 Ensembl ENCODE dbSUPER 25 +9.2 9209 1.3 ZNF687 L3MBTL2 ZBED1 MAX ELF1 ZNF592 ZNF217 POLR2A IKZF1 NBN BCL2A1 RNU6-667P ZFAND6 ST20-MTHFS MTHFS ST20 GC15P079945
GH15H079976 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.6 -8.4 -8380 6 HDGF PKNOX1 FOXA2 ATF1 MLX SIN3A ZNF766 ZNF207 ATF7 RUNX3 BCL2A1 ST20 ZFAND6 LOC100420205
GH15H079973 1.5 FANTOM5 Ensembl ENCODE dbSUPER 25.8 -2.4 -2358 0.8 ZNF687 DPF2 ZNF592 BCL11A IKZF1 EED ETV6 IKZF2 RUNX3 BCL2A1 ST20-MTHFS MTHFS ST20 ZFAND6 LOC100420205
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCL2A1 on UCSC Golden Path with GeneCards custom track

Promoters for BCL2A1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000079888 1046 2001 PKNOX1 TBL1XR1 RB1 SIN3A BATF ZNF207 FOS ATF7 ETV6 RUNX3

Genomic Locations for BCL2A1 Gene

Genomic Locations for BCL2A1 Gene
chr15:79,960,889-79,971,446
(GRCh38/hg38)
Size:
10,558 bases
Orientation:
Minus strand
chr15:80,253,231-80,263,788
(GRCh37/hg19)

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

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for BCL2A1 (Bcl-2 related protein A1)
  • Cell Signaling Technology (CST) Antibodies for BCL2A1 (BCL2A1)
  • Abcam antibodies for BCL2A1
  • Santa Cruz Biotechnology (SCBT) Antibodies for BCL2A1

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

Suggested Antigen Peptide Sequences for BCL2A1 Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
BCL2 related gene,isolated from a fetal liver,predominantly expressed in bone marrow,involved in regulation of apoptosis,murine A1 homolog
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.

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:0015267 channel activity IBA --
GO:0042803 protein homodimerization activity IBA --
GO:0046982 protein heterodimerization activity IBA --
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 Model Products

CRISPR Products

miRNA for BCL2A1 Gene

miRTarBase miRNAs that target BCL2A1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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
extracellular 2
plasma membrane 1
cytoskeleton 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 --
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

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:0001836 release of cytochrome c from mitochondria IBA --
GO:0006915 apoptotic process IEA --
GO:0007568 aging IEA --
GO:0008053 mitochondrial fusion IBA --
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IBA --
genes like me logo Genes that share ontologies with BCL2A1: view

Drugs & Compounds for BCL2A1 Gene

(15) Drugs for BCL2A1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) 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

Unigene Clusters for BCL2A1 Gene

BCL2-related protein A1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
BCL2A1

Expression for BCL2A1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of BCL2A1 Gene:

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(4.6)
  • Liver(4.4)
  • Skin(4.2)
  • Nervous system(2.8)
  • Bone marrow(2.6)
  • Lung(2.5)
  • Intestine(2.2)
  • Lymph node(2.2)
  • Spleen(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with BCL2A1: view

Primer Products

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 33 34
  • 98.67 (n)
cow
(Bos Taurus)
Mammalia BCL2A1 33 34
  • 81.8 (n)
rat
(Rattus norvegicus)
Mammalia Bcl2a1 33
  • 81.03 (n)
mouse
(Mus musculus)
Mammalia Bcl2a1d 33 16 34
  • 78.49 (n)
Bcl2a1a 34
  • 72 (a)
OneToMany
Bcl2a1b 34
  • 72 (a)
OneToMany
Bcl2a1c 34
  • 56 (a)
OneToMany
dog
(Canis familiaris)
Mammalia BCL2A1 33 34
  • 77.07 (n)
oppossum
(Monodelphis domestica)
Mammalia BCL2A1 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCL2A1 34
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCL2A1 33 34
  • 60.89 (n)
Species where no ortholog for BCL2A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for BCL2A1 Gene

No data available for Paralogs for BCL2A1 Gene

Variants for BCL2A1 Gene

Sequence variations from dbSNP and Humsavar for BCL2A1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1000068662 -- 79,972,100(+) CTACT(C/T)GGGAG upstream-variant-2KB
rs1000456148 -- 79,967,246(+) TGAGA(C/T)GGAGT intron-variant
rs1000617147 -- 79,960,944(+) CATAA(C/T)TCTGG utr-variant-3-prime
rs1001143053 -- 79,966,936(+) TTAGG(A/G)GATCT intron-variant
rs1001238264 -- 79,972,563(+) GCTGA(A/G)GCGAG upstream-variant-2KB

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

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

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)

Relevant External Links for BCL2A1 Gene

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

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

Disorders for BCL2A1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for BCL2A1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glucocorticoid resistance
  • cortisol resistance from glucocorticoid receptor defect
robinow syndrome, autosomal recessive
  • fetal face syndrome
botryoid rhabdomyosarcoma
  • botryoid sarcoma
gingival recession
  • gingival recession nos
robinow syndrome
  • acral dysostosis with facial and genital abnormalities
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BCL2A1

Genetic Association Database (GAD)
BCL2A1
Human Genome Epidemiology (HuGE) Navigator
BCL2A1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCL2A1
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 22 60
  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 22 45 60
  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 22 60
  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 22 60
  5. Defective ubiquitin-mediated degradation of antiapoptotic Bfl-1 predisposes to lymphoma. (PMID: 20185581) Fan G … Gélinas C (Blood 2010) 3 22 60

Products for BCL2A1 Gene

Sources for BCL2A1 Gene

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