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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 Regulation of Apoptosis by Parathyroid Hormone-related Protein. 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

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

Genomics for BCL2L13 Gene

Regulatory Elements for BCL2L13 Gene

Enhancers for BCL2L13 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
GH22G017671 1.8 FANTOM5 Ensembl ENCODE dbSUPER 5.2 +44.3 44291 2.5 HDGF PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 FOS YY2 ATP6V1E1 BID BCL2L13 PIR47030
GH22G017780 1.5 FANTOM5 ENCODE dbSUPER 5.9 +152.6 152599 2.3 ZNF48 GLIS2 FOS RELB CEBPB GATAD2B KAT8 TGIF2 SSRP1 NFIC BID BCL2L13 CECR2 USP18 ATP6V1E1 LINC00528 PIR46133
GH22G017724 1.1 Ensembl ENCODE dbSUPER 7.7 +97.4 97395 4.1 PKNOX1 ZNF316 MAFG ZFP37 NFE2L1 NFE2 EMSY BID ENSG00000093100 MICAL3 BCL2L13 PIR47030
GH22G017631 1.5 Ensembl ENCODE dbSUPER 5.5 +4.7 4661 3.2 HDGF FOXA2 PKNOX1 ARNT TCF12 FOS ZNF263 REST ZNF592 CREB3 BID ATP6V1E1 SLC25A18 BCL2L13 PIR47030
GH22G017241 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -385.9 -385930 3.0 HDGF TBP PKNOX1 TBL1XR1 ZSCAN4 RELB CREM EGR2 JUNB TBX21 ADA2 BCL2L13 CECR2 IL17RA CECR3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BCL2L13 on UCSC Golden Path with GeneCards custom track

Promoters for BCL2L13 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000143549 -255 2001 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 FOS SP3 CEBPZ

Genomic Location for BCL2L13 Gene

Chromosome:
22
Start:
17,628,855 bp from pter
End:
17,730,855 bp from pter
Size:
102,001 bases
Orientation:
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:
    Q9BXK5-B2L13_HUMAN
    Recommended name:
    Bcl-2-like protein 13
    Protein Accession:
    Q9BXK5
    Secondary Accessions:
    • B3KPE7
    • Q96B37
    • Q96IB7
    • Q9BY01
    • Q9HC05
    • Q9UFE0
    • Q9UKN3

    Protein attributes for BCL2L13 Gene

    Size:
    485 amino acids
    Molecular mass:
    52723 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

Graphical View of Domain Structure for InterPro Entry

Q9BXK5

UniProtKB/Swiss-Prot:

B2L13_HUMAN :
  • Belongs to the Bcl-2 family.
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.

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

CRISPR Products

miRNA for BCL2L13 Gene

miRTarBase miRNAs that target BCL2L13

Inhibitory RNA Products

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

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

Gene Ontology (GO) - Cellular Components for BCL2L13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005739 mitochondrion NAS,IEA 11262395
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IDA 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:

CRISPR Products

Inhibitory RNA Products

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: -
SP13:
SP14: - -
SP15: - - - - -
SP16: -
SP17:

ExUns: 14d · 14e · 14f · 14g · 14h · 14i
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for BCL2L13 Gene

GeneLoc Exon Structure for
BCL2L13
ECgene alternative splicing isoforms for
BCL2L13

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:

BCL2L13

SOURCE GeneReport for Unigene cluster for BCL2L13 Gene:

Hs.631672

mRNA Expression by UniProt/SwissProt for BCL2L13 Gene:

Q9BXK5-B2L13_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia BCL2L13 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia BCL2L13 34 35
  • 87.54 (n)
cow
(Bos Taurus)
Mammalia BCL2L13 34 35
  • 83.77 (n)
mouse
(Mus musculus)
Mammalia Bcl2l13 34 16 35
  • 80.03 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BCL2L13 35
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC689660 34
  • 76.87 (n)
oppossum
(Monodelphis domestica)
Mammalia BCL2L13 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves BCL2L13 34 35
  • 68.74 (n)
lizard
(Anolis carolinensis)
Reptilia BCL2L13 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl2l13 34
  • 58.29 (n)
Str.949 34
zebrafish
(Danio rerio)
Actinopterygii bcl2l13 34 35
  • 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

ENSEMBL:
Gene Tree for BCL2L13 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1000000965 -- 17,630,228(+) ACAAA(-/C)AAAAA intron-variant, upstream-variant-2KB
rs1000031146 -- 17,694,116(+) TTTTT(A/T)ATCTA intron-variant
rs1000046453 -- 17,687,927(+) ATTCT(C/T)CTGCC intron-variant
rs1000047683 -- 17,650,143(+) GGGAT(A/T)ACAGG intron-variant
rs1000110328 -- 17,655,531(+) GCCAC(A/T)GCACT intron-variant, upstream-variant-2KB

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)

Relevant External Links for BCL2L13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BCL2L13

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

Relevant External Links for BCL2L13

Genetic Association Database (GAD)
BCL2L13
Human Genome Epidemiology (HuGE) Navigator
BCL2L13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BCL2L13
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. (J. Biol. Chem. 2001) 2 3 4 64
  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 T.K. … McDermid H.E. (Genome Res. 2001) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PMID: 20855536) Kelly J.L. … Cerhan J.R. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for BCL2L13 Gene

Sources for BCL2L13 Gene

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