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Aliases for BCL2L13 Gene

Aliases for BCL2L13 Gene

  • BCL2 Like 13 2 3
  • BCL2-Like 13 (Apoptosis Facilitator) 2 3 5
  • BCL-RAMBO 3 4
  • Bcl2-L-13 3 4
  • MIL1 3 4
  • 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 Legionellosis. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BCL2L13 Gene

Genomics for BCL2L13 Gene

Regulatory Elements for BCL2L13 Gene

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

Proteomics data for BCL2L13 Gene at MOPED

Post-translational modifications for BCL2L13 Gene

  • Ubiquitination at Lys 450
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BCL2L13 Gene

Domains & Families for BCL2L13 Gene

Gene Families for BCL2L13 Gene

Protein Domains 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.
genes like me logo Genes that share phenotypes with BCL2L13: view

Animal Model Products

  • Taconic Biosciences Mouse Models for BCL2L13

miRNA for BCL2L13 Gene

miRTarBase miRNAs that target BCL2L13

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for BCL2L13 Gene COMPARTMENTS Subcellular localization image for BCL2L13 gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytosol 3
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for BCL2L13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,NAS 11262395
genes like me logo Genes that share ontologies with BCL2L13: view

Pathways & Interactions for BCL2L13 Gene

SuperPathways for BCL2L13 Gene

Superpath Contained pathways
1 Legionellosis
genes like me logo Genes that share pathways with BCL2L13: view

Pathways by source for BCL2L13 Gene

1 KEGG pathway for BCL2L13 Gene

Gene Ontology (GO) - Biological Process for BCL2L13 Gene

None

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:

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 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, MOPED, and MaxQB for BCL2L13 Gene



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.
genes like me logo Genes that share expression patterns with BCL2L13: view

Protein tissue co-expression partners for BCL2L13 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 99.52 (n)
  • 99.59 (a)
BCL2L13 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BCL2L13 36
  • 80 (a)
OneToOne
BCL2L13 35
  • 83.77 (n)
  • 86.14 (a)
dog
(Canis familiaris)
Mammalia BCL2L13 35
  • 87.54 (n)
  • 87.83 (a)
BCL2L13 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcl2l13 16
Bcl2l13 36
  • 74 (a)
OneToOne
Bcl2l13 35
  • 80.03 (n)
  • 76.73 (a)
oppossum
(Monodelphis domestica)
Mammalia BCL2L13 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BCL2L13 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC689660 35
  • 76.87 (n)
  • 70.46 (a)
chicken
(Gallus gallus)
Aves BCL2L13 35
  • 68.74 (n)
  • 70.82 (a)
BCL2L13 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BCL2L13 36
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bcl2l13 35
  • 58.29 (n)
  • 56.41 (a)
Str.949 35
zebrafish
(Danio rerio)
Actinopterygii bcl2l13 36
  • 42 (a)
OneToOne
bcl2l13 35
  • 53.86 (n)
  • 51.69 (a)
Species with no ortholog for BCL2L13:
  • 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
rs16981016 - 17,683,255(+) AAGAA(A/G)TTTTA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs9306198 - 17,727,154(+) GGGAA(C/T)CTGAC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs2587070 -, - 17,683,229(+) AGATA(C/G/T)AGCTT intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs713701 -- 17,648,780(-) TCTTA(C/T)AAAAC intron-variant
rs181379 -- 17,728,419(+) CTTGT(C/G)TCAAG nc-transcript-variant, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv526826 CNV Gain 19592680
nsv428385 CNV Gain+Loss 18775914
nsv9871 CNV Loss 18304495
nsv914151 CNV Gain 21882294
esv2665896 CNV Deletion 23128226
esv2669345 CNV Deletion 23128226
esv22768 CNV Loss 19812545
nsv914152 CNV Loss 21882294
esv1008890 CNV Deletion 20482838
esv2673622 CNV Deletion 23128226
nsv828929 CNV Gain 20364138
esv28002 CNV Loss 19812545
nsv820926 CNV Deletion 20802225
nsv828930 CNV Loss 20364138
esv2723953 CNV Deletion 23290073
esv2660619 CNV Deletion 23128226
nsv834119 CNV Loss 17160897
nsv524899 CNV Loss 19592680

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

HapMap Linkage Disequilibrium report
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. 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 67
  2. 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
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Bcl2L13 is a ceramide synthase inhibitor in glioblastoma. (PMID: 24706805) Jensen S.A. … Stegh A.H. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3
  5. Bcl-rambo induces apoptosis via interaction with the adenine nucleotide translocator. (PMID: 22921587) Kim J.Y. … Park J.H. (FEBS Lett. 2012) 3

Products for BCL2L13 Gene

Sources for BCL2L13 Gene

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