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Aliases for BCL2L1 Gene

Aliases for BCL2L1 Gene

  • BCL2 Like 1 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 52 2 3
  • Apoptosis Regulator Bcl-X 3 4
  • BCL2L 3 4
  • BCLX 3 4
  • Bcl-2-Like Protein 1 3
  • BCL-XL/S 3
  • Bcl2-L-1 4
  • PPP1R52 3
  • Bcl-X 3

External Ids for BCL2L1 Gene

Previous GeneCards Identifiers for BCL2L1 Gene

  • GC20M030040
  • GC20M030950
  • GC20M030997
  • GC20M029715
  • GC20M030252
  • GC20M027040

Summaries for BCL2L1 Gene

Entrez Gene Summary for BCL2L1 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 proteins encoded by this gene are located at the outer mitochondrial membrane, and have been shown to regulate outer mitochondrial membrane channel (VDAC) opening. VDAC regulates mitochondrial membrane potential, and thus controls the production of reactive oxygen species and release of cytochrome C by mitochondria, both of which are the potent inducers of cell apoptosis. Alternative splicing results in multiple transcript variants encoding two different isoforms. The longer isoform acts as an apoptotic inhibitor and the shorter isoform acts as an apoptotic activator. [provided by RefSeq, Dec 2015]

GeneCards Summary for BCL2L1 Gene

BCL2L1 (BCL2 Like 1) is a Protein Coding gene. Diseases associated with BCL2L1 include B-Cell Lymphomas and Follicular Lymphoma. Among its related pathways are Endometrial cancer and Amyotrophic lateral sclerosis (ALS). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is BCL2.

UniProtKB/Swiss-Prot for BCL2L1 Gene

  • Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage-dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis.

  • Isoform Bcl-X(L) also regulates presynaptic plasticity, including neurotransmitter release and recovery, number of axonal mitochondria as well as size and number of synaptic vesicle clusters. During synaptic stimulation, increases ATP availability from mitochondria through regulation of mitochondrial membrane ATP synthase F(1)F(0) activity and regulates endocytic vesicle retrieval in hippocampal neurons through association with DMN1L and stimulation of its GTPase activity in synaptic vesicles. May attenuate inflammation impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785).

  • Isoform Bcl-X(S) promotes apoptosis.

Tocris Summary for BCL2L1 Gene

  • Bcl-2 family proteins contribute to programmed cell death or apoptosis. It is a large protein family and all members contain at least one of four Bcl-2 homology domains. Certain members (Bcl-2, Bcl-XL and Mcl-1) are antiapoptotic, whilst others (Bax, Bak, Bok) are proapoptotic.

Gene Wiki entry for BCL2L1 Gene

Additional gene information for BCL2L1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCL2L1 Gene

Genomics for BCL2L1 Gene

GeneHancer (GH) Regulatory Elements for BCL2L1 Gene

Promoters and enhancers for BCL2L1 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
GH20J031709 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.4 +6.8 6801 14.7 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 BCL2L1 ASXL1 TM9SF4 PLAGL2 MYLK2 COX4I2 PDRG1 DEFB121 RNU1-94P DEFB122
GH20J032564 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650 -841.2 -841244 1.1 BCOR ZMYM3 ZNF121 PHF20 ADNP SMARCA5 TFE3 ZNF189 BHLHE40 ETV5 NOL4L-DT BCL2L1 MAPRE1 PLAGL2 ENSG00000233293 ENSG00000228156 NOL4L
GH20J031725 Enhancer 0.6 dbSUPER 650.7 -2.0 -1974 0.8 CTCF ZNF654 ZNF792 SAP130 ARID4B ERF REST ZNF48 RAD21 SLC30A9 BCL2L1 HM13 TPX2
GH20J031672 Enhancer 2.2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 15 +46.7 46717 10.3 HDGF PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ZFP64 ARID4B NEUROD1 LOC105372589 COX4I2 BCL2L1 PDRG1 TM9SF4 HM13 TTLL9 HCK PIR46209
GH20J031558 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +162.5 162506 6.6 HDGF ZFP64 ARID4B SIN3A ZNF766 ZNF143 FOS DEK PAF1 REST HM13-IT1 HM13 ID1 BCL2L1 COX4I2 PDRG1 DEFB124 MYLK2 HCK MCTS2P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BCL2L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BCL2L1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Pax-4a
  • Sox9
  • SREBP-1a
  • SREBP-1b

Genomic Locations for BCL2L1 Gene

Genomic Locations for BCL2L1 Gene
chr20:31,664,452-31,723,989
(GRCh38/hg38)
Size:
59,538 bases
Orientation:
Minus strand
chr20:30,252,255-30,311,792
(GRCh37/hg19)
Size:
59,538 bases
Orientation:
Minus strand

Genomic View for BCL2L1 Gene

Genes around BCL2L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL2L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL2L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL2L1 Gene

Proteins for BCL2L1 Gene

  • Protein details for BCL2L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07817-B2CL1_HUMAN
    Recommended name:
    Bcl-2-like protein 1
    Protein Accession:
    Q07817
    Secondary Accessions:
    • E1P5L6
    • Q5CZ89
    • Q5TE65
    • Q92976

    Protein attributes for BCL2L1 Gene

    Size:
    233 amino acids
    Molecular mass:
    26049 Da
    Quaternary structure:
    • Homodimer. Isoform Bcl-X(L) forms heterodimers with BAX, BAK or BCL2. Heterodimerization with BAX does not seem to be required for anti-apoptotic activity. Interacts with BCL2L11. Interacts with BAD. Interacts (isoform Bcl-X(L)) with SIVA1 (isoform 1); the interaction inhibits the anti-apoptotic activity. Interacts with BECN1 and PGAM5. Isoform Bcl-X(L) interacts with IKZF3. Interacts with HEBP2. Isoform Bcl-X(L) interacts with RTL10/BOP. Interacts with p53/TP53 and BBC3; interaction with BBC3 disrupts the interaction with p53/TP53. Isoform Bcl-X(L) interacts with DNM1L and CLTA; DNM1L and BCL2L1 isoform BCL-X(L) may form a complex in synaptic vesicles that also contains clathrin and MFF. Interacts with ATP5F1A and ATP5F1B; the interactions mediate the association of isoform Bcl-X(L) with the mitochondrial membrane ATP synthase F(1)F(0) ATP synthase. Interacts with VDAC1 (PubMed:25296756). Isoform Bcl-X(L) interacts (via the loop between motifs BH4 and BH3) with NLRP1 (via LRR repeats), but not with NLRP2, NLRP3, NLRP4, PYCARD, nor MEFV (PubMed:17418785). Interacts with BCL2L11 (via BH3) (PubMed:27013495).

    Three dimensional structures from OCA and Proteopedia for BCL2L1 Gene

    Alternative splice isoforms for BCL2L1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BCL2L1 Gene

Post-translational modifications for BCL2L1 Gene

  • Proteolytically cleaved by caspases during apoptosis. The cleaved protein, lacking the BH4 motif, has pro-apoptotic activity.
  • Phosphorylated on Ser-62 by CDK1. This phosphorylation is partial in normal mitotic cells, but complete in G2-arrested cells upon DNA-damage, thus promoting subsequent apoptosis probably by triggering caspases-mediated proteolysis. Phosphorylated by PLK3, leading to regulate the G2 checkpoint and progression to cytokinesis during mitosis. Phosphorylation at Ser-49 appears during the S phase and G2, disappears rapidly in early mitosis during prometaphase, metaphase and early anaphase, and re-appears during telophase and cytokinesis.
  • Ubiquitination at Lys87 and Lys16
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for BCL2L1

No data available for DME Specific Peptides for BCL2L1 Gene

Domains & Families for BCL2L1 Gene

Gene Families for BCL2L1 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q07817

UniProtKB/Swiss-Prot:

B2CL1_HUMAN :
  • The BH4 motif is required for anti-apoptotic activity. The BH1 and BH2 motifs are required for both heterodimerization with other Bcl-2 family members and for repression of cell death.
  • Belongs to the Bcl-2 family.
Domain:
  • The BH4 motif is required for anti-apoptotic activity. The BH1 and BH2 motifs are required for both heterodimerization with other Bcl-2 family members and for repression of cell death.
  • The loop between motifs BH4 and BH3 is required for the interaction with NLRP1.
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BCL2L1: view

Function for BCL2L1 Gene

Molecular function for BCL2L1 Gene

UniProtKB/Swiss-Prot Function:
Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage-dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis.
UniProtKB/Swiss-Prot Function:
Isoform Bcl-X(L) also regulates presynaptic plasticity, including neurotransmitter release and recovery, number of axonal mitochondria as well as size and number of synaptic vesicle clusters. During synaptic stimulation, increases ATP availability from mitochondria through regulation of mitochondrial membrane ATP synthase F(1)F(0) activity and regulates endocytic vesicle retrieval in hippocampal neurons through association with DMN1L and stimulation of its GTPase activity in synaptic vesicles. May attenuate inflammation impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785).
UniProtKB/Swiss-Prot Function:
Isoform Bcl-X(S) promotes apoptosis.

Phenotypes From GWAS Catalog for BCL2L1 Gene

Gene Ontology (GO) - Molecular Function for BCL2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9027312
GO:0019901 protein kinase binding IPI 21840391
GO:0042802 identical protein binding IPI 21856303
GO:0042803 protein homodimerization activity IBA --
GO:0046982 protein heterodimerization activity IBA --
genes like me logo Genes that share ontologies with BCL2L1: view
genes like me logo Genes that share phenotypes with BCL2L1: view

Animal Models for BCL2L1 Gene

MGI Knock Outs for BCL2L1:

Animal Model Products

miRNA for BCL2L1 Gene

miRTarBase miRNAs that target BCL2L1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for BCL2L1 Gene

Localization for BCL2L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL2L1 Gene

Isoform Bcl-X(L): Mitochondrion inner membrane. Mitochondrion outer membrane. Mitochondrion matrix. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus membrane; Single-pass membrane protein; Cytoplasmic side. Note=After neuronal stimulation, translocates from cytosol to synaptic vesicle and mitochondrion membrane in a calmodulin-dependent manner (By similarity). Localizes to the centrosome when phosphorylated at Ser-49. {ECO:0000250}.

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 BCL2L1 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
nucleus 5
cytosol 5
endoplasmic reticulum 3
plasma membrane 2
extracellular 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BCL2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IDA 20673843
GO:0005739 mitochondrion IDA,TAS 12011449
GO:0005741 mitochondrial outer membrane IBA,TAS --
genes like me logo Genes that share ontologies with BCL2L1: view

Pathways & Interactions for BCL2L1 Gene

genes like me logo Genes that share pathways with BCL2L1: view

Pathways by source for BCL2L1 Gene

SIGNOR curated interactions for BCL2L1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for BCL2L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001541 ovarian follicle development IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001836 release of cytochrome c from mitochondria IDA 9843949
GO:0006897 endocytosis IEA --
GO:0006915 apoptotic process IEA --
genes like me logo Genes that share ontologies with BCL2L1: view

Drugs & Compounds for BCL2L1 Gene

(111) Drugs for BCL2L1 Gene - From: DrugBank, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
AT-101 Approved, Investigational Pharma Target BH3-mimetic,gossypol enantiomer, BCL-2 inhibitors 62
Lomustine Approved, Investigational Pharma Antineoplastic drug 85
Mitomycin Approved Pharma Inhibits DNA synthesis,antibiotic and antitumor agent 0
4'-FLUORO-1,1'-BIPHENYL-4-CARBOXYLIC ACID Experimental Pharma Target 0
Gossypol Investigational Pharma Target PAF inhibitor;anti-fertility and anti-cancer 24

(62) Additional Compounds for BCL2L1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
AT 101
90141-22-3
SMBA 1
906440-37-7

(4) Tocris Compounds for BCL2L1 Gene

Compound Action Cas Number
AT 101 Downregulates Bcl-2 and Mcl-1; pro-apoptotic 90141-22-3
BAM 7 Selective Bax activator; induces Bax-mediated apoptosis 331244-89-4
SMBA 1 High affinity and selective activator of Bax 906440-37-7
TW 37 Bcl-2 inhibitor; induces apoptosis 877877-35-5
genes like me logo Genes that share compounds with BCL2L1: view

Transcripts for BCL2L1 Gene

Unigene Clusters for BCL2L1 Gene

BCL2-like 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCL2L1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: -
SP5: -
SP6: -
SP7: - - -
SP8: -

Relevant External Links for BCL2L1 Gene

GeneLoc Exon Structure for
BCL2L1
ECgene alternative splicing isoforms for
BCL2L1

Expression for BCL2L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCL2L1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BCL2L1 Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for BCL2L1 Gene

This gene is overexpressed in Breast (23.3), Bone (11.0), and Bone marrow stromal cell (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCL2L1 Gene



NURSA nuclear receptor signaling pathways regulating expression of BCL2L1 Gene:

BCL2L1

SOURCE GeneReport for Unigene cluster for BCL2L1 Gene:

Hs.516966

mRNA Expression by UniProt/SwissProt for BCL2L1 Gene:

Q07817-B2CL1_HUMAN
Tissue specificity: Bcl-X(S) is expressed at high levels in cells that undergo a high rate of turnover, such as developing lymphocytes. In contrast, Bcl-X(L) is found in tissues containing long-lived postmitotic cells, such as adult brain.

Evidence on tissue expression from TISSUES for BCL2L1 Gene

  • Lung(4.7)
  • Nervous system(4.4)
  • Liver(3.9)
  • Intestine(3.5)
  • Blood(3.1)
  • Bone marrow(3.1)
  • Heart(2.9)
  • Kidney(2.9)
  • Eye(2.8)
  • Muscle(2.8)
  • Lymph node(2.7)
  • Pancreas(2.7)
  • Skin(2.7)
  • Spleen(2.6)
  • Stomach(2.5)
  • Adrenal gland(2.4)
  • Thyroid gland(2.3)
genes like me logo Genes that share expression patterns with BCL2L1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL2L1 Gene

Orthologs for BCL2L1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCL2L1 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia BCL-XL 34
  • 100 (a)
OneToOne
BCL2L1 33
  • 96.57 (n)
chimpanzee
(Pan troglodytes)
Mammalia BCL2L1 34 33
  • 99.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BCL2L1 34 33
  • 94.99 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bcl2l1 33
  • 93.85 (n)
mouse
(Mus musculus)
Mammalia Bcl2l1 16 34 33
  • 93.56 (n)
oppossum
(Monodelphis domestica)
Mammalia BCL2L1 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCL2L1 34 33
  • 75.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCL2L1 34
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia bcl-XL 33
zebrafish
(Danio rerio)
Actinopterygii bcl2l1 34 33
  • 60.09 (n)
OneToOne
bcl2l 33
Species where no ortholog for BCL2L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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 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)

Evolution for BCL2L1 Gene

ENSEMBL:
Gene Tree for BCL2L1 (if available)
TreeFam:
Gene Tree for BCL2L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BCL2L1: view image

Paralogs for BCL2L1 Gene

Paralogs for BCL2L1 Gene

(5) SIMAP similar genes for BCL2L1 Gene using alignment to 6 proteins:

  • B2CL1_HUMAN
  • Q5QP56_HUMAN
  • Q5QP59_HUMAN
  • Q5TE63_HUMAN
  • Q5TE64_HUMAN
  • Q9H1R6_HUMAN
genes like me logo Genes that share paralogs with BCL2L1: view

Variants for BCL2L1 Gene

Sequence variations from dbSNP and Humsavar for BCL2L1 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000004123 -- 31,694,052(-) G/C intron_variant
rs1000022353 -- 31,697,807(-) C/T intron_variant
rs1000033843 -- 31,697,517(-) A/C intron_variant
rs1000168398 -- 31,692,863(-) C/G/T intron_variant
rs1000213621 -- 31,687,344(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for BCL2L1 Gene

Variant ID Type Subtype PubMed ID
dgv4300n100 CNV gain 25217958
esv2444548 CNV insertion 19546169
nsv458961 CNV gain 19166990
nsv585911 CNV gain 21841781

Variation tolerance for BCL2L1 Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCL2L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL2L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL2L1 Gene

Disorders for BCL2L1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for BCL2L1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
b-cell lymphomas
  • b-cell lymphoma
follicular lymphoma
  • lymphoma, follicular
colorectal cancer
  • crc
lung cancer
  • lung cancer, susceptibility to
her2-receptor negative breast cancer
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BCL2L1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BCL2L1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCL2L1 Gene

Publications for BCL2L1 Gene

  1. Bax-independent inhibition of apoptosis by Bcl-XL. (PMID: 8596636) Cheng EH … Hardwick JM (Nature 1996) 3 4 22 58
  2. bcl-x, a bcl-2-related gene that functions as a dominant regulator of apoptotic cell death. (PMID: 8358789) Boise LH … Thompson CB (Cell 1993) 2 3 4 58
  3. The deubiquitinase Usp27x stabilizes the BH3-only protein Bim and enhances apoptosis. (PMID: 27013495) Weber A … Häcker G (EMBO reports 2016) 3 4 58
  4. Plasminogen kringle 5 induces endothelial cell apoptosis by triggering a voltage-dependent anion channel 1 (VDAC1) positive feedback loop. (PMID: 25296756) Li L … Gao GQ (The Journal of biological chemistry 2014) 3 4 58
  5. Bcl-xL phosphorylation at Ser49 by polo kinase 3 during cell cycle progression and checkpoints. (PMID: 21840391) Wang J … Bertrand R (Cellular signalling 2011) 3 4 58

Products for BCL2L1 Gene