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Aliases for BCL2L13 Gene

Aliases for BCL2L13 Gene

  • 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 (Apoptosis Facilitator)) 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BCL2L13 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 Lys450
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for BCL2L13 Gene

Domains for BCL2L13 Gene

Protein Domains for BCL2L13 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BXK5

UniProtKB/Swiss-Prot:

B2L13_HUMAN :
  • Q9BXK5
Family:
  • Belongs to the Bcl-2 family.
genes like me logo Genes that share domains with BCL2L13: view

No data available for Gene Families for BCL2L13 Gene

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

Phenotypes for BCL2L13 Gene

GenomeRNAi human phenotypes for BCL2L13:
genes like me logo Genes that share phenotypes with BCL2L13: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BCL2L13

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 2
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:0005634 nucleus IEA --
GO:0005739 mitochondrion NAS 11262395
GO:0016021 integral component of membrane IDA 11262395
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with BCL2L13: view

Pathways 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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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 --
genes like me logo Genes that share ontologies with BCL2L13: view

Transcripts for BCL2L13 Gene

Unigene Clusters for BCL2L13 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BCL2L13

Primer Products

Flow Cytometry 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 for BCL2L13 Gene

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

This gene is overexpressed in Muscle - Skeletal (5.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with BCL2L13: view

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 35
  • 83.77 (n)
  • 86.14 (a)
BCL2L13 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BCL2L13 35
  • 87.54 (n)
  • 87.83 (a)
BCL2L13 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bcl2l13 35
  • 80.03 (n)
  • 76.73 (a)
Bcl2l13 16
Bcl2l13 36
  • 74 (a)
OneToOne
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 35
  • 53.86 (n)
  • 51.69 (a)
bcl2l13 36
  • 42 (a)
OneToOne
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

Selected 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 MAF
rs8919 -- 17,730,291(+) ATGAA(A/G)AAATG utr-variant-3-prime, nc-transcript-variant
rs9967 -- 17,728,439(+) TAACC(C/T)GGATG utr-variant-3-prime, nc-transcript-variant
rs181379 -- 17,728,419(+) CTTGT(C/G)TCAAG utr-variant-3-prime, nc-transcript-variant
rs181380 -- 17,729,764(+) TTTCA(C/T)GGTAA utr-variant-3-prime, nc-transcript-variant, downstream-variant-500B
rs181381 -- 17,731,195(+) TCCGC(C/T)TCCCG downstream-variant-500B

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

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

MalaCards: The human disease database. (1) Diseases for BCL2L13 Gene including...

Search for BCL2L13 Gene in MalaCards »

Relevant External Links for BCL2L13

Genetic Association Database (GAD)
BCL2L13
Human Genome Epidemiology (HuGE) Navigator
BCL2L13
genes like me logo Genes that share disorders with BCL2L13: view

No data available for UniProtKB/Swiss-Prot 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
  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
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 3 4

Products for BCL2L13 Gene

Sources for BCL2L13 Gene

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