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Aliases for BCL2L13 Gene

Aliases for BCL2L13 Gene

  • BCL2 Like 13 2 3 5
  • BCL2-Like 13 (Apoptosis Facilitator) 2 3
  • BCL-RAMBO 3 4
  • Bcl2-L-13 3 4
  • MIL1 3 4
  • Bcl-2-Like Protein 13 3
  • Protein Mil1 4

External Ids for BCL2L13 Gene

Previous GeneCards Identifiers for BCL2L13 Gene

  • GC22P015052
  • GC22P016486
  • GC22P016496
  • GC22P018111
  • GC22P001936

Summaries for BCL2L13 Gene

Entrez Gene Summary for BCL2L13 Gene

  • This gene encodes a mitochondrially-localized protein with conserved B-cell lymphoma 2 homology motifs. Overexpression of the encoded protein results in apoptosis. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]

GeneCards Summary for BCL2L13 Gene

BCL2L13 (BCL2 Like 13) is a Protein Coding gene. Diseases associated with BCL2L13 include Cat Eye Syndrome. Among its related pathways are Mitophagy - animal and Legionellosis. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activator activity involved in apoptotic process.

UniProtKB/Swiss-Prot for BCL2L13 Gene

  • May promote the activation of caspase-3 and apoptosis.

Gene Wiki entry for BCL2L13 Gene

Additional gene information for BCL2L13 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCL2L13 Gene

Genomics for BCL2L13 Gene

GeneHancer (GH) Regulatory Elements for BCL2L13 Gene

Promoters and enhancers for BCL2L13 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I017637 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 555 +10.2 10183 3.3 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 BCL2L13 ATP6V1E1 SLC25A18 BID HDHD5-AS1 PIR47030
GH22I017627 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 555.9 -0.1 -54 2.6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B E2F8 FOS ATP6V1E1 BCL2L13 PIR61133
GH22I017671 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.2 +44.3 44291 2.5 HDGF PKNOX1 ATF1 ARNT NCOA2 ZNF280A TCF12 POLR2B ZNF766 E2F8 ATP6V1E1 BID BCL2L13 PIR47030
GH22I017780 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 5.9 +152.6 152598 2.3 BATF ZNF48 GLIS2 FOS RUNX3 SMARCA5 CEBPB KAT8 TGIF2 SSRP1 BID BCL2L13 CECR2 USP18 ATP6V1E1 LINC00528 PIR46133
GH22I017705 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 5.1 +77.8 77753 3 HDGF PKNOX1 SMAD1 IRF4 RAD21 RFX5 YY1 ZNF121 ATF7 FOS BID ATP6V1E1 BCL2L13 PIR47030
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BCL2L13 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BCL2L13 gene promoter:

Genomic Locations for BCL2L13 Gene

Genomic Locations for BCL2L13 Gene
102,001 bases
Plus strand

Genomic View for BCL2L13 Gene

Genes around BCL2L13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BCL2L13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BCL2L13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BCL2L13 Gene

Proteins for BCL2L13 Gene

  • Protein details for BCL2L13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Bcl-2-like protein 13
    Protein Accession:
    Secondary Accessions:
    • B3KPE7
    • Q96B37
    • Q96IB7
    • Q9BY01
    • Q9HC05
    • Q9UFE0
    • Q9UKN3

    Protein attributes for BCL2L13 Gene

    485 amino acids
    Molecular mass:
    52723 Da
    Quaternary structure:
    • Monomer.
    • Sequence=AAF03602.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAG09680.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BCL2L13 Gene

    Alternative splice isoforms for BCL2L13 Gene


neXtProt entry for BCL2L13 Gene

Post-translational modifications for BCL2L13 Gene

  • Ubiquitination at posLast=450450
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BCL2L13 Gene

Domains & Families for BCL2L13 Gene

Gene Families for BCL2L13 Gene

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

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Bcl-2 family.
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BCL2L13: view

Function for BCL2L13 Gene

Molecular function for BCL2L13 Gene

UniProtKB/Swiss-Prot Function:
May promote the activation of caspase-3 and apoptosis.

Phenotypes From GWAS Catalog for BCL2L13 Gene

Gene Ontology (GO) - Molecular Function for BCL2L13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process NAS 11262395
genes like me logo Genes that share ontologies with BCL2L13: view
genes like me logo Genes that share phenotypes with BCL2L13: view

Animal Model Products

miRNA for BCL2L13 Gene

miRTarBase miRNAs that target BCL2L13

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BCL2L13 Gene

Localization for BCL2L13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BCL2L13 Gene

Isoform 2: Mitochondrion membrane; Single-pass membrane protein. Nucleus.
Isoform 1: Nucleus.

Subcellular locations from

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 BCL2L13 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 3
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for BCL2L13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion IEA,NAS 11262395
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA,IEA 11262395
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with BCL2L13: view

Pathways & Interactions for BCL2L13 Gene

genes like me logo Genes that share pathways with BCL2L13: view

Pathways by source for BCL2L13 Gene

2 KEGG pathways for BCL2L13 Gene

Gene Ontology (GO) - Biological Process for BCL2L13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process NAS 11262395
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process NAS 11262395
GO:0042981 regulation of apoptotic process IEA --
genes like me logo Genes that share ontologies with BCL2L13: view

No data available for SIGNOR curated interactions for BCL2L13 Gene

Drugs & Compounds for BCL2L13 Gene

No Compound Related Data Available

Transcripts for BCL2L13 Gene

Unigene Clusters for BCL2L13 Gene

BCL2-like 13 (apoptosis facilitator):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BCL2L13 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ·
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - - -
SP8: - -
SP9: - - - - - - -
SP10: - - - - - - -
SP11: - - - - - -
SP12: -
SP14: - -
SP15: - - - - -
SP16: -

ExUns: 14d · 14e · 14f · 14g · 14h · 14i

Relevant External Links for BCL2L13 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BCL2L13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BCL2L13 Gene

mRNA differential expression in normal tissues according to GTEx for BCL2L13 Gene

This gene is overexpressed in Muscle - Skeletal (x5.2).

Protein differential expression in normal tissues from HIPED for BCL2L13 Gene

This gene is overexpressed in Retina (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BCL2L13 Gene

Protein tissue co-expression partners for BCL2L13 Gene

NURSA nuclear receptor signaling pathways regulating expression of BCL2L13 Gene:


SOURCE GeneReport for Unigene cluster for BCL2L13 Gene:


mRNA Expression by UniProt/SwissProt for BCL2L13 Gene:

Tissue specificity: Ubiquitous, with the highest levels of expression in heart, placenta and pancreas.

Evidence on tissue expression from TISSUES for BCL2L13 Gene

  • Eye(4.4)
  • Skin(4.4)
  • Liver(4.3)
  • Nervous system(3.7)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with BCL2L13: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for BCL2L13 Gene

Orthologs for BCL2L13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BCL2L13 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BCL2L13 33 34
  • 99.52 (n)
(Canis familiaris)
Mammalia BCL2L13 33 34
  • 87.54 (n)
(Bos Taurus)
Mammalia BCL2L13 33 34
  • 83.77 (n)
(Mus musculus)
Mammalia Bcl2l13 33 16 34
  • 80.03 (n)
(Ornithorhynchus anatinus)
Mammalia BCL2L13 34
  • 80 (a)
(Rattus norvegicus)
Mammalia LOC689660 33
  • 76.87 (n)
(Monodelphis domestica)
Mammalia BCL2L13 34
  • 71 (a)
(Gallus gallus)
Aves BCL2L13 33 34
  • 68.74 (n)
(Anolis carolinensis)
Reptilia BCL2L13 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl2l13 33
  • 58.29 (n)
Str.949 33
(Danio rerio)
Actinopterygii bcl2l13 33 34
  • 53.86 (n)
Species where no ortholog for BCL2L13 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BCL2L13 Gene

Gene Tree for BCL2L13 (if available)
Gene Tree for BCL2L13 (if available)

Paralogs for BCL2L13 Gene

(8) SIMAP similar genes for BCL2L13 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with BCL2L13: view

No data available for Paralogs for BCL2L13 Gene

Variants for BCL2L13 Gene

Sequence variations from dbSNP and Humsavar for BCL2L13 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000000965 -- 17,630,229(+) /C genic_upstream_transcript_variant, intron_variant
rs1000031146 -- 17,694,116(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000046453 -- 17,687,927(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000047683 -- 17,650,143(+) T/A genic_upstream_transcript_variant, intron_variant
rs1000110328 -- 17,655,531(+) T/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BCL2L13 Gene

Variant ID Type Subtype PubMed ID
dgv2429n106 CNV deletion 24896259
dgv4465n100 CNV gain 25217958
dgv7955n54 CNV gain+loss 21841781
dgv7956n54 CNV loss 21841781
dgv7957n54 CNV loss 21841781
esv1008890 CNV deletion 20482838
esv22768 CNV loss 19812545
esv2660619 CNV deletion 23128226
esv2665896 CNV deletion 23128226
esv2669345 CNV deletion 23128226
esv2673622 CNV deletion 23128226
esv2723953 CNV deletion 23290073
esv28002 CNV loss 19812545
esv3557908 CNV deletion 23714750
esv3557909 CNV deletion 23714750
esv3647229 CNV loss 21293372
esv3647231 CNV loss 21293372
esv3647232 CNV loss 21293372
esv3647234 CNV loss 21293372
esv3893428 CNV loss 25118596
esv3893429 CNV gain 25118596
nsv1146118 CNV deletion 26484159
nsv428385 CNV gain+loss 18775914
nsv474673 CNV novel sequence insertion 20440878
nsv524899 CNV loss 19592680
nsv526826 CNV gain 19592680
nsv588106 CNV gain 21841781
nsv588107 CNV loss 21841781
nsv820926 CNV deletion 20802225
nsv828929 CNV gain 20364138
nsv828930 CNV loss 20364138
nsv834119 CNV loss 17160897
nsv964581 CNV duplication 23825009
nsv9871 CNV loss 18304495

Variation tolerance for BCL2L13 Gene

Residual Variation Intolerance Score: 65.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.00; 49.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BCL2L13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BCL2L13 Gene

Disorders for BCL2L13 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BCL2L13 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cat eye syndrome
  • ces
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for BCL2L13

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BCL2L13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BCL2L13 Gene

Publications for BCL2L13 Gene

  1. Bcl-rambo, a novel Bcl-2 homologue that induces apoptosis via its unique C-terminal extension. (PMID: 11262395) Kataoka T … Tschopp J (The Journal of biological chemistry 2001) 2 3 4 58
  2. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. (PMID: 11381032) Footz TK … McDermid HE (Genome research 2001) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PMID: 20855536) Kelly JL … Cerhan JR (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for BCL2L13 Gene

Sources for BCL2L13 Gene

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