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. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. M... See more...

Aliases for BCL2L2 Gene

Aliases for BCL2L2 Gene

  • BCL2 Like 2 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 51 2 3
  • Bcl-2-Like Protein 2 3 4
  • KIAA0271 2 4
  • PPP1R51 2 3
  • BCL-W 2 3
  • BCLW 3 4
  • Apoptosis Regulator BCL-W 3
  • Apoptosis Regulator Bcl-W 4
  • BCL2-L-2 3
  • Bcl2-L-2 4
  • BCL2L2 5

External Ids for BCL2L2 Gene

Previous GeneCards Identifiers for BCL2L2 Gene

  • GC14P021148
  • GC14P017563
  • GC14P021766
  • GC14P022845
  • GC14P023776
  • GC14P003892
  • GC14P023791
  • GC14P023464
  • GC14P023564
  • GC14P024507
  • GC14P024635
  • GC14P024748
  • GC14P025033
  • GC14P023677
  • GC14P023800
  • GC14P023889
  • GC14P023948
  • GC14P024061
  • GC14P024179
  • GC14P024290
  • GC14P024390

Summaries for BCL2L2 Gene

Entrez Gene Summary for BCL2L2 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. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for BCL2L2 Gene

BCL2L2 (BCL2 Like 2) is a Protein Coding gene. Diseases associated with BCL2L2 include Glioblastoma Multiforme and Lymphoma, Non-Hodgkin, Familial. Among its related pathways are Apoptosis Modulation and Signaling and Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins. 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 BCL2L2 Gene

  • Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli cells by suppressing death-promoting activity of BAX.

Gene Wiki entry for BCL2L2 Gene

Additional gene information for BCL2L2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BCL2L2 Gene

Genomics for BCL2L2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BCL2L2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCL2L2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BCL2L2

Top Transcription factor binding sites by QIAGEN in the BCL2L2 gene promoter:
  • c-Ets-1
  • E2F
  • E2F-1
  • E2F-2
  • Sp1
  • STAT1

Genomic Locations for BCL2L2 Gene

Genomic Locations for BCL2L2 Gene
chr14:23,298,790-23,311,759
(GRCh38/hg38)
Size:
12,970 bases
Orientation:
Plus strand
chr14:23,767,999-23,780,968
(GRCh37/hg19)
Size:
12,970 bases
Orientation:
Plus strand

Genomic View for BCL2L2 Gene

Genes around BCL2L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL2L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL2L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL2L2 Gene

Proteins for BCL2L2 Gene

  • Protein details for BCL2L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92843-B2CL2_HUMAN
    Recommended name:
    Bcl-2-like protein 2
    Protein Accession:
    Q92843
    Secondary Accessions:
    • A8K0F4
    • Q2M3U0
    • Q5U0H4

    Protein attributes for BCL2L2 Gene

    Size:
    193 amino acids
    Molecular mass:
    20746 Da
    Quaternary structure:
    • Interacts with HIF3A (via C-terminus domain). Interacts with BOP.
    SequenceCaution:
    • Sequence=BAA19666.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 3]: Based on a readthrough transcript which may produce a BCL2L2-PABPN1 fusion protein.

    Three dimensional structures from OCA and Proteopedia for BCL2L2 Gene

    Alternative splice isoforms for BCL2L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCL2L2 Gene

Post-translational modifications for BCL2L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BCL2L2 Gene

Antibody Products

  • Abcam antibodies for BCL2L2
  • Boster Bio Antibodies for BCL2L2
  • Santa Cruz Biotechnology (SCBT) Antibodies for BCL2L2

No data available for DME Specific Peptides for BCL2L2 Gene

Domains & Families for BCL2L2 Gene

Gene Families for BCL2L2 Gene

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

Protein Domains for BCL2L2 Gene

InterPro:
Blocks:
  • Apoptosis regulator Bcl-2 protein, BH
  • Apoptosis regulator Bcl-2 protein, BH4
ProtoNet:

Suggested Antigen Peptide Sequences for BCL2L2 Gene

GenScript: Design optimal peptide antigens:
  • Apoptosis regulator Bcl-W (B2CL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92843

UniProtKB/Swiss-Prot:

B2CL2_HUMAN :
  • The BH4 motif seems to be involved in the anti-apoptotic function.
  • Belongs to the Bcl-2 family.
Domain:
  • The BH4 motif seems to be involved in the anti-apoptotic function.
  • The BH1 and BH2 motifs form a hydrophobic groove which acts as a docking site for the BH3 domain of some pro-apoptotic proteins. The C-terminal residues of BCL2L2 fold into the BH3-binding cleft and modulate pro-survival activity by regulating ligand access. When BH3 domain-containing proteins bind, they displace the C-terminus, allowing its insertion into the membrane and neutralizing the pro-survival activity of BCL2L2.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BCL2L2: view

Function for BCL2L2 Gene

Molecular function for BCL2L2 Gene

UniProtKB/Swiss-Prot Function:
Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli cells by suppressing death-promoting activity of BAX.
GENATLAS Biochemistry:
BCL2-like 2,antiapoptotic,expressed in lymphoid and myeloid cells

Phenotypes From GWAS Catalog for BCL2L2 Gene

Gene Ontology (GO) - Molecular Function for BCL2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15694340
GO:0042802 identical protein binding IPI 22000515
GO:0042803 protein homodimerization activity IBA 21873635
GO:0044877 protein-containing complex binding IEA --
GO:0046982 protein heterodimerization activity IBA 21873635
genes like me logo Genes that share ontologies with BCL2L2: view
genes like me logo Genes that share phenotypes with BCL2L2: view

Animal Models for BCL2L2 Gene

MGI Knock Outs for BCL2L2:

Animal Model Products

CRISPR Products

miRNA for BCL2L2 Gene

miRTarBase miRNAs that target BCL2L2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCL2L2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCL2L2 Gene

Localization for BCL2L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL2L2 Gene

Mitochondrion membrane. Peripheral membrane protein. Note=Loosely associated with the mitochondrial membrane in healthy cells. During apoptosis, tightly bound to the membrane.

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 BCL2L2 gene
Compartment Confidence
mitochondrion 4
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BCL2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane IBA 21873635
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with BCL2L2: view

Pathways & Interactions for BCL2L2 Gene

genes like me logo Genes that share pathways with BCL2L2: view

Pathways by source for BCL2L2 Gene

1 GeneGo (Thomson Reuters) pathway for BCL2L2 Gene
  • Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins
1 Cell Signaling Technology pathway for BCL2L2 Gene

SIGNOR curated interactions for BCL2L2 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BCL2L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002931 response to ischemia IEA --
GO:0006915 apoptotic process IEA --
GO:0007283 spermatogenesis TAS 8761287
GO:0007420 brain development IEA --
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IBA 21873635
genes like me logo Genes that share ontologies with BCL2L2: view

Drugs & Compounds for BCL2L2 Gene

(10) Drugs for BCL2L2 Gene - From: DrugBank, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
AT-101 Approved, Investigational Pharma BH3-mimetic,gossypol enantiomer, BCL-2 inhibitors 86
Navitoclax Investigational Pharma Target BCL-2 inhibitors 30
Gossypol Investigational Pharma PAF inhibitor;anti-fertility and anti-cancer 24
ABT-263 (Navitoclax) Pharma Potent Bcl-2 family inhibitor, inhibits Bcl-2, Bcl-xL, and Bcl-w 0
ABT-737 Pharma Bcl-2 inhibitor 0

(7) ApexBio Compounds for BCL2L2 Gene

Compound Action Cas Number
ABT-263 (Navitoclax) Potent Bcl-2 family inhibitor, inhibits Bcl-2, Bcl-xL, and Bcl-w 923564-51-6
ABT-737 Bcl-2 inhibitor 852808-04-9
AT-101 BH3-mimetic,gossypol enantiomer 90141-22-3
Bax inhibitor peptide P5 Bax inhibitor 579492-83-4
Bax inhibitor peptide V5 Bax inhibitor 579492-81-2
Gossypol PAF inhibitor;anti-fertility and anti-cancer 303-45-7
Sabutoclax pan-Bcl-2 inhibitor 1228108-65-3
genes like me logo Genes that share compounds with BCL2L2: view

Transcripts for BCL2L2 Gene

mRNA/cDNA for BCL2L2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BCL2L2

Alternative Splicing Database (ASD) splice patterns (SP) for BCL2L2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b
SP1: - -
SP2: -
SP3: -
SP4:
SP5:

Relevant External Links for BCL2L2 Gene

GeneLoc Exon Structure for
BCL2L2

Expression for BCL2L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BCL2L2 Gene

Protein differential expression in normal tissues from HIPED for BCL2L2 Gene

This gene is overexpressed in Bone (13.8) and Frontal cortex (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCL2L2 Gene



Protein tissue co-expression partners for BCL2L2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BCL2L2

SOURCE GeneReport for Unigene cluster for BCL2L2 Gene:

Hs.410026

mRNA Expression by UniProt/SwissProt for BCL2L2 Gene:

Q92843-B2CL2_HUMAN
Tissue specificity: Expressed (at protein level) in a wide range of tissues with highest levels in brain, spinal cord, testis, pancreas, heart, spleen and mammary glands. Moderate levels found in thymus, ovary and small intestine. Not detected in salivary gland, muscle or liver. Also expressed in cell lines of myeloid, fibroblast and epithelial origin. Not detected in most lymphoid cell lines.

Evidence on tissue expression from TISSUES for BCL2L2 Gene

  • Nervous system(4.7)
  • Lung(4.6)
  • Liver(4.5)
  • Intestine(3)
  • Kidney(2.9)
  • Heart(2.8)
  • Skin(2.7)
  • Muscle(2.6)
  • Spleen(2.6)
  • Pancreas(2.5)
  • Blood(2.4)
  • Bone marrow(2.4)
  • Lymph node(2.3)
  • Stomach(2.3)
  • Adrenal gland(2.2)
  • Thyroid gland(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with BCL2L2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL2L2 Gene

Orthologs for BCL2L2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCL2L2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia BCL2L2 30 31
  • 99.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia BCL2L2 30 31
  • 95.85 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BCL2L2 31
  • 95 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia BCL2L2 30 31
  • 94.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bcl2l2 30
  • 94.3 (n)
Mouse
(Mus musculus)
Mammalia Bcl2l2 30 17 31
  • 93.78 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BCL2L2 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bcl2l2 30
  • 67.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia xR1 30
Species where no ortholog for BCL2L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for BCL2L2 Gene

ENSEMBL:
Gene Tree for BCL2L2 (if available)
TreeFam:
Gene Tree for BCL2L2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCL2L2: view image

Paralogs for BCL2L2 Gene

Paralogs for BCL2L2 Gene

(5) SIMAP similar genes for BCL2L2 Gene using alignment to 6 proteins:

  • B2CL2_HUMAN
  • G3V3B7_HUMAN
  • G3V3G8_HUMAN
  • G3V4B7_HUMAN
  • G3V5A9_HUMAN
  • H0YJC7_HUMAN
genes like me logo Genes that share paralogs with BCL2L2: view

Variants for BCL2L2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BCL2L2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
rs910332 - p.Gln133Arg

Additional dbSNP identifiers (rs#s) for BCL2L2 Gene

Variation tolerance for BCL2L2 Gene

Residual Variation Intolerance Score: 40% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.48; 10.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCL2L2 Gene

Human Gene Mutation Database (HGMD)
BCL2L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL2L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BCL2L2 Gene

Disorders for BCL2L2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for BCL2L2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
glioblastoma multiforme
  • adult glioblastoma multiforme
lymphoma, non-hodgkin, familial
  • non-hodgkin lymphoma; nhl
leukemia, chronic lymphocytic
  • cll
myeloma, multiple
  • multiple myeloma, susceptibility to
leukemia, acute myeloid
  • aml
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BCL2L2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with BCL2L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCL2L2 Gene

Publications for BCL2L2 Gene

  1. bcl-w, a novel member of the bcl-2 family, promotes cell survival. (PMID: 8761287) Gibson L … Cory S (Oncogene 1996) 2 3 4 23
  2. Solution structure of human BCL-w: modulation of ligand binding by the C-terminal helix. (PMID: 12651847) Denisov AY … Gehring K (The Journal of biological chemistry 2003) 3 4 23
  3. Co-inhibition of BCL-W and BCL2 restores antiestrogen sensitivity through BECN1 and promotes an autophagy-associated necrosis. (PMID: 20062536) Crawford AC … Clarke R (PloS one 2010) 3 23
  4. 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 41
  5. The IFNG (IFN-gamma) genotype predicts cytogenetic and molecular response to imatinib therapy in chronic myeloid leukemia. (PMID: 20959405) Kim DH … Lipton JH (Clinical cancer research : an official journal of the American Association for Cancer Research 2010) 3 41

Products for BCL2L2 Gene

Sources for BCL2L2 Gene