The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including ... See more...

Aliases for BCL2L10 Gene

Aliases for BCL2L10 Gene

  • BCL2 Like 10 2 3 5
  • BCL2-Like 10 (Apoptosis Facilitator) 2 3
  • Anti-Apoptotic Protein NrH 3 4
  • Apoptosis Regulator Bcl-B 3 4
  • Bcl-2-Like Protein 10 3 4
  • Bcl2-L-10 3 4
  • BCL-B 2 3
  • Diva 2 3
  • Boo 2 3
  • Death Inducer Binding To VBcl-2 And Apaf-1 3
  • BCL2L10 5
  • BCLB 4

External Ids for BCL2L10 Gene

Previous GeneCards Identifiers for BCL2L10 Gene

  • GC15M047960
  • GC15M045448
  • GC15M049980
  • GC15M050117
  • GC15M050189
  • GC15M052401
  • GC15M029232
  • GC15M052415
  • GC15M052685
  • GC15M057649
  • GC15M057764
  • GC15M057802
  • GC15M059761
  • GC15M054207
  • GC15M054934
  • GC15M055375
  • GC15M055822
  • GC15M056259
  • GC15M056708
  • GC15M057147
  • GC15M057545
  • GC15M060649
  • GC15M061503

Summaries for BCL2L10 Gene

Entrez Gene Summary for BCL2L10 Gene

  • The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008]

GeneCards Summary for BCL2L10 Gene

BCL2L10 (BCL2 Like 10) is a Protein Coding gene. Among its related pathways are Regulation of Apoptosis by Parathyroid Hormone-related Protein and Busulfan Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity.

UniProtKB/Swiss-Prot Summary for BCL2L10 Gene

  • Promotes cell survival by suppressing apoptosis induced by BAX but not BAK (PubMed:11689480, PubMed:11278245). Increases binding of AHCYL1/IRBIT to ITPR1 (PubMed:27995898). Reduces ITPR1-mediated calcium release from the endoplasmic reticulum cooperatively with AHCYL1/IRBIT under normal cellular conditions (PubMed:27995898). Under apoptotic stress conditions, dissociates from ITPR1 and is displaced from mitochondria-associated endoplasmic reticulum membranes, leading to increased Ca(2+) transfer to mitochondria which promotes apoptosis (PubMed:27995898).

Gene Wiki entry for BCL2L10 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCL2L10 Gene

Genomics for BCL2L10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BCL2L10 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
GH15J052133 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 263.2 -21.9 -21878 2.6 SSRP1 CEBPA ATF3 YY1 KLF11 HOMEZ RAD51 THAP11 FOXA2 KDM6A BCL2L10 GNB5 MAPK6 CERNA1 lnc-BCL2L10-4 lnc-BCL2L10-5 ENSG00000259709
GH15J052112 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 250.7 +0.4 374 1.2 YY1 ZNF592 BHLHE40 MYC MAX ZBTB33 IKZF1 POLR2A ZNF687 ZFX BCL2L10 HSALNG0105953 lnc-BCL2L10-3 GNB5 LEO1
GH15J052113 Enhancer 0.3 Ensembl 250.7 -1.0 -1026 0.4 KDM1A BCL2L10 GNB5 TMOD2 ENSG00000259327
GH15J052018 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 +91.9 91907 5.6 BCLAF1 SP1 NCOR1 MYC ZNF600 IKZF1 JUND ZNF592 ZMYM3 POLR2A MAPK6 HSALNG0105948 MAPK6-DT ENSG00000259935 BCL2L10 LYSMD2 DMXL2 piR-57133-183 LEO1 lnc-MAPK6-12
GH15J052076 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +34.1 34107 5.1 BCLAF1 MYC ZNF654 JUND CEBPA YY1 REST TRIM22 BHLHE40 HOMEZ lnc-MAPK6-13 MAPK6 BCL2L10 LYSMD2 GNB5 ENSG00000259178 DMXL2 RPS13P8 ENSG00000259712 LOC112268150
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCL2L10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCL2L10

Top Transcription factor binding sites by QIAGEN in the BCL2L10 gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-3
  • Lmo2
  • ZID

Genomic Locations for BCL2L10 Gene

Latest Assembly
chr15:52,109,263-52,112,775
(GRCh38/hg38)
Size:
3,513 bases
Orientation:
Minus strand

Previous Assembly
chr15:52,401,460-52,404,972
(GRCh37/hg19 by Entrez Gene)
Size:
3,513 bases
Orientation:
Minus strand

chr15:52,401,460-52,404,972
(GRCh37/hg19 by Ensembl)
Size:
3,513 bases
Orientation:
Minus strand

Genomic View for BCL2L10 Gene

Genes around BCL2L10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL2L10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL2L10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL2L10 Gene

Proteins for BCL2L10 Gene

  • Protein details for BCL2L10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HD36-B2L10_HUMAN
    Recommended name:
    Bcl-2-like protein 10
    Protein Accession:
    Q9HD36
    Secondary Accessions:
    • Q3SX80
    • Q52LQ9
    • Q8TCS9

    Protein attributes for BCL2L10 Gene

    Size:
    204 amino acids
    Molecular mass:
    23204 Da
    Quaternary structure:
    • Interacts with BCL2, BCL2L1/BCLX and BAX (PubMed:11278245, PubMed:11593390). Interacts with APAF1 (By similarity). Interacts with ITPR1, ITPR2 and ITPR3; the interaction with ITPR1 is increased in the presence of AHCLY1 (PubMed:27995898). Interacts with AHCYL1 (PubMed:27995898).

    Three dimensional structures from OCA and Proteopedia for BCL2L10 Gene

neXtProt entry for BCL2L10 Gene

Post-translational modifications for BCL2L10 Gene

  • Ubiquitination at Lys119 and Lys120
  • Modification sites at PhosphoSitePlus

Other Protein References for BCL2L10 Gene

No data available for DME Specific Peptides for BCL2L10 Gene

Domains & Families for BCL2L10 Gene

Gene Families for BCL2L10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for BCL2L10 Gene

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

Suggested Antigen Peptide Sequences for BCL2L10 Gene

GenScript: Design optimal peptide antigens:
  • Apoptosis regulator Bcl-B (B2L10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HD36

UniProtKB/Swiss-Prot:

B2L10_HUMAN :
  • Belongs to the Bcl-2 family.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BCL2L10: view

Function for BCL2L10 Gene

Molecular function for BCL2L10 Gene

UniProtKB/Swiss-Prot Function:
Promotes cell survival by suppressing apoptosis induced by BAX but not BAK (PubMed:11689480, PubMed:11278245). Increases binding of AHCYL1/IRBIT to ITPR1 (PubMed:27995898). Reduces ITPR1-mediated calcium release from the endoplasmic reticulum cooperatively with AHCYL1/IRBIT under normal cellular conditions (PubMed:27995898). Under apoptotic stress conditions, dissociates from ITPR1 and is displaced from mitochondria-associated endoplasmic reticulum membranes, leading to increased Ca(2+) transfer to mitochondria which promotes apoptosis (PubMed:27995898).

Phenotypes From GWAS Catalog for BCL2L10 Gene

Gene Ontology (GO) - Molecular Function for BCL2L10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11278245
GO:0042803 protein homodimerization activity IBA 21873635
GO:0046982 protein heterodimerization activity IBA 21873635
GO:0089720 caspase binding IPI 19255499
genes like me logo Genes that share ontologies with BCL2L10: view
genes like me logo Genes that share phenotypes with BCL2L10: view

Animal Models for BCL2L10 Gene

MGI Knock Outs for BCL2L10:

miRNA for BCL2L10 Gene

miRTarBase miRNAs that target BCL2L10

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCL2L10

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCL2L10 Gene

Localization for BCL2L10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL2L10 Gene

Mitochondrion. Nucleus membrane. Endoplasmic reticulum. Note=Localizes to mitochondria-associated endoplasmic reticulum membranes (MAMs) (PubMed:27995898). Localization to MAMs is greatly reduced under apoptotic stress conditions (PubMed:27995898). {ECO:0000269 PubMed:27995898}.

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 BCL2L10 gene
Compartment Confidence
mitochondrion 5
nucleus 4
endoplasmic reticulum 4
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for BCL2L10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IDA 11278245
GO:0005741 mitochondrial outer membrane IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005829 cytosol IDA 11278245
genes like me logo Genes that share ontologies with BCL2L10: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BCL2L10 Gene

Pathways & Interactions for BCL2L10 Gene

genes like me logo Genes that share pathways with BCL2L10: view

Pathways by source for BCL2L10 Gene

1 GeneGo (Thomson Reuters) pathway for BCL2L10 Gene
  • Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins
1 Cell Signaling Technology pathway for BCL2L10 Gene

Gene Ontology (GO) - Biological Process for BCL2L10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA,IMP 27995898
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process TAS 9829980
GO:0007283 spermatogenesis TAS 9878060
GO:0007292 female gamete generation TAS 9878060
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IBA 21873635
genes like me logo Genes that share ontologies with BCL2L10: view

No data available for SIGNOR curated interactions for BCL2L10 Gene

Drugs & Compounds for BCL2L10 Gene

No Compound Related Data Available

Transcripts for BCL2L10 Gene

mRNA/cDNA for BCL2L10 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 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 BCL2L10

Alternative Splicing Database (ASD) splice patterns (SP) for BCL2L10 Gene

No ASD Table

Relevant External Links for BCL2L10 Gene

GeneLoc Exon Structure for
BCL2L10

Expression for BCL2L10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCL2L10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BCL2L10 Gene

This gene is overexpressed in Liver (x6.4).

Protein differential expression in normal tissues from HIPED for BCL2L10 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BCL2L10 Gene



Protein tissue co-expression partners for BCL2L10 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCL2L10

SOURCE GeneReport for Unigene cluster for BCL2L10 Gene:

Hs.283672

mRNA Expression by UniProt/SwissProt for BCL2L10 Gene:

Q9HD36-B2L10_HUMAN
Tissue specificity: Widely expressed in adult tissues. Preferentially expressed in lung, liver and kidney.

Evidence on tissue expression from TISSUES for BCL2L10 Gene

  • Liver(4.4)
  • Nervous system(4.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with BCL2L10: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL2L10 Gene

Orthologs for BCL2L10 Gene

This gene was present in the common ancestor of mammals.

Orthologs for BCL2L10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BCL2L10 29 30
  • 98.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BCL2L10 29
  • 69.75 (n)
-- 30
  • 55 (a)
OneToMany
-- 30
  • 48 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Bcl2l10 29 16 30
  • 67.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bcl2l10 29
  • 65.93 (n)
Species where no ortholog for BCL2L10 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)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • 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)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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 BCL2L10 Gene

ENSEMBL:
Gene Tree for BCL2L10 (if available)
TreeFam:
Gene Tree for BCL2L10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCL2L10: view image
Alliance of Genome Resources:
Additional Orthologs for BCL2L10

Paralogs for BCL2L10 Gene

No data available for Paralogs for BCL2L10 Gene

Variants for BCL2L10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCL2L10 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs2231292 -- p.Leu21Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BCL2L10 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 BCL2L10 Gene

Variant ID Type Subtype PubMed ID
nsv471244 CNV gain 18288195
nsv833005 CNV gain 17160897
nsv952627 CNV deletion 24416366

Variation tolerance for BCL2L10 Gene

Residual Variation Intolerance Score: 73.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.43; 63.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCL2L10 Gene

Human Gene Mutation Database (HGMD)
BCL2L10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL2L10
Leiden Open Variation Database (LOVD)
BCL2L10

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL2L10 Gene

Disorders for BCL2L10 Gene

Additional Disease Information for BCL2L10

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for BCL2L10 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BCL2L10 Gene

Publications for BCL2L10 Gene

  1. Bcl-B, a novel Bcl-2 family member that differentially binds and regulates Bax and Bak. (PMID: 11278245) Ke N … Reed JC (The Journal of biological chemistry 2001) 3 4 22
  2. Bcl2-L-10, a novel anti-apoptotic member of the Bcl-2 family, blocks apoptosis in the mitochondria death pathway but not in the death receptor pathway. (PMID: 11689480) Zhang H … De Geyter C (Human molecular genetics 2001) 3 4 22
  3. Boo, a novel negative regulator of cell death, interacts with Apaf-1. (PMID: 9878060) Song Q … Vincenz C (The EMBO journal 1999) 2 3 22
  4. IRBIT controls apoptosis by interacting with the Bcl-2 homolog, Bcl2l10, and by promoting ER-mitochondria contact. (PMID: 27995898) Bonneau B … Mikoshiba K (eLife 2016) 3 4
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40

Products for BCL2L10 Gene

Sources for BCL2L10 Gene