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BCL2L13 BCL2 like 13 [ Homo sapiens (human) ]

Gene ID: 23786, updated on 11-Apr-2024

Summary

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Official Symbol
BCL2L13provided by HGNC
Official Full Name
BCL2 like 13provided by HGNC
Primary source
HGNC:HGNC:17164
See related
Ensembl:ENSG00000099968 MIM:619822; AllianceGenome:HGNC:17164
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MIL1; BCL-RAMBO; Bcl2-L-13
Summary
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]
Expression
Ubiquitous expression in fat (RPKM 9.5), adrenal (RPKM 9.0) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See BCL2L13 in Genome Data Viewer
Location:
22q11.21
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17628877..17730855)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (18296592..18398588)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18121350..18213621)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 18 Neighboring gene uncharacterized LOC101929372 Neighboring gene ATPase H+ transporting V1 subunit E1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18623 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:18117540-18117771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:18119788-18120660 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18120661-18121532 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18121533-18122405 Neighboring gene uncharacterized LOC124905160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18628 Neighboring gene Sharpr-MPRA regulatory region 7571 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18227061-18227681 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:18232941-18233485 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:18236057-18236556 Neighboring gene BH3 interacting domain death agonist Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18630 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18632 Neighboring gene microRNA 3198-1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13441 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18634 Neighboring gene long intergenic non-protein coding RNA 528

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Selective binding of mitophagy receptor protein Bcl-rambo to LC3/GABARAP family proteins. Li M, et al. Biochem Biophys Res Commun, 2020 Sep 10. PMID 32828302
  2. Bcl-2-like protein 13 is a mammalian Atg32 homologue that mediates mitophagy and mitochondrial fragmentation. Murakawa T, et al. Nat Commun, 2015 Jul 6. PMID 26146385, Free PMC Article
  3. Bcl2L13 is a ceramide synthase inhibitor in glioblastoma. Jensen SA, et al. Proc Natl Acad Sci U S A, 2014 Apr 15. PMID 24706805, Free PMC Article
  4. Bcl-rambo induces apoptosis via interaction with the adenine nucleotide translocator. Kim JY, et al. FEBS Lett, 2012 Sep 21. PMID 22921587
  5. Identification of expression signatures predictive of sensitivity to the Bcl-2 family member inhibitor ABT-263 in small cell lung carcinoma and leukemia/lymphoma cell lines. Tahir SK, et al. Mol Cancer Ther, 2010 Mar. PMID 20179162

See all (57) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The role of BCL2L13 in glioblastoma: turning a need into a target.
    Title: The role of BCL2L13 in glioblastoma: turning a need into a target.
  2. The BCL-2 family protein BCL-RAMBO interacts and cooperates with GRP75 to promote its apoptosis signaling pathway.
    Title: The BCL-2 family protein BCL-RAMBO interacts and cooperates with GRP75 to promote its apoptosis signaling pathway.
  3. LncRNA SNHG14 is beneficial to oxygen glucose deprivation/reoxygenation-induced neuro-2a cell injury via mir-98-5p sequestration-caused BCL2L13 upregulation.
    Title: LncRNA SNHG14 is beneficial to oxygen glucose deprivation/reoxygenation-induced neuro-2a cell injury via mir-98-5p sequestration-caused BCL2L13 upregulation.
  4. Long non-coding RNA SNHG15 is a competing endogenous RNA of miR-141-3p that prevents osteoarthritis progression by upregulating BCL2L13 expression.
    Title: Long non-coding RNA SNHG15 is a competing endogenous RNA of miR-141-3p that prevents osteoarthritis progression by upregulating BCL2L13 expression.
  5. Selective binding of mitophagy receptor protein Bcl-rambo to LC3/GABARAP family proteins.
    Title: Selective binding of mitophagy receptor protein Bcl-rambo to LC3/GABARAP family proteins.
  6. Human Bcl-rambo and Voltage-dependent anion channels cooperatively promote the activation of effector caspases in human cultured cells.
    Title: The human Bcl-2 family member Bcl-rambo and voltage-dependent anion channels manifest a genetic interaction in Drosophila and cooperatively promote the activation of effector caspases in human cultured cells.
  7. Bcl2-L-13 recruits the ULK1 complex to process mitophagy.
    Title: A Mammalian Mitophagy Receptor, Bcl2-L-13, Recruits the ULK1 Complex to Induce Mitophagy.
  8. Ectopically expressed in Drosophila Bcl-rambo localizes to mitochondria, induces apoptosis and atrophied wing, split thorax, and rough eye phenotypes.
    Title: The Human Bcl-2 Family Member Bcl-rambo Localizes to Mitochondria and Induces Apoptosis and Morphological Aberrations in Drosophila.
  9. This study showed that Bcl-2-like protein 13 (Bcl2-L-13) induces mitochondrial fragmentation and mitophagy in mammalian cells.
    Title: Bcl-2-like protein 13 is a mammalian Atg32 homologue that mediates mitophagy and mitochondrial fragmentation.
  10. Bcl2L13 binds to proapoptotic ceramide synthases 2 (CerS2) and 6 (CerS6) via a unique C-terminal 250-aa sequence located between its Bcl-2 homology and membrane anchor domains and blocks homo- and heteromeric CerS2/6 complex formation and activity.
    Title: Bcl2L13 is a ceramide synthase inhibitor in glioblastoma.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ52784

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cysteine-type endopeptidase activator activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of cysteine-type endopeptidase activity involved in apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial membrane IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
bcl-2-like protein 13
Names
BCL2-like 13 (apoptosis facilitator)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001270726.1 → NP_001257655.1  bcl-2-like protein 13 isoform b

    See identical proteins and their annotated locations for NP_001257655.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is longer than isoform a.
    Source sequence(s)
    AC006285, BX407004, DA799358
    Consensus CDS
    CCDS74810.1
    UniProtKB/TrEMBL
    A0A087WX97
    Related
    ENSP00000480836.1, ENST00000618481.4
    Conserved Domains (1) summary
    pfam00452
    Location:128 → 224
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family

  2. NM_001270727.1 → NP_001257656.1  bcl-2-like protein 13 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons in the coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC006285, DA478149, DA799358
    Consensus CDS
    CCDS74811.1
    UniProtKB/TrEMBL
    A0A087WTL4
    Related
    ENSP00000477967.1, ENST00000611738.4

  3. NM_001270728.2 → NP_001257657.1  bcl-2-like protein 13 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks three exons in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (d) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC006285, AK294286
    Consensus CDS
    CCDS74814.1
    UniProtKB/TrEMBL
    F6VJB4
    Related
    ENSP00000441344.2, ENST00000538149.5

  4. NM_001270729.2 → NP_001257658.1  bcl-2-like protein 13 isoform e

    See identical proteins and their annotated locations for NP_001257658.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon in the coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus, compared to isoform a. Variants 5, 6, and 7 encode the same isoform (e).
    Source sequence(s)
    AC006285, AK056248
    Consensus CDS
    CCDS59448.1
    UniProtKB/TrEMBL
    A8K5Y4
    Related
    ENSP00000437667.1, ENST00000543133.5
    Conserved Domains (1) summary
    pfam00452
    Location:1 → 38
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family

  5. NM_001270730.2 → NP_001257659.1  bcl-2-like protein 13 isoform e

    See identical proteins and their annotated locations for NP_001257659.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two alternate exons in the coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus, compared to isoform a. Variants 5, 6 and 7 encode the same isoform (e).
    Source sequence(s)
    AC006285, DA154984
    Consensus CDS
    CCDS59448.1
    UniProtKB/TrEMBL
    A8K5Y4
    Conserved Domains (1) summary
    pfam00452
    Location:1 → 38
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family

  6. NM_001270731.2 → NP_001257660.1  bcl-2-like protein 13 isoform e

    See identical proteins and their annotated locations for NP_001257660.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) lacks an alternate exon in the coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus, compared to isoform a. Variants 5, 6 and 7 encode the same isoform (e).
    Source sequence(s)
    AC006285, BE900458, BI560132
    Consensus CDS
    CCDS59448.1
    UniProtKB/TrEMBL
    A8K5Y4
    Related
    ENSP00000410019.3, ENST00000418951.6
    Conserved Domains (1) summary
    pfam00452
    Location:1 → 38
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family

  7. NM_001270732.2 → NP_001257661.1  bcl-2-like protein 13 isoform f

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks two alternate exons in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (f) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC006285, AK291449, BC003032
    Consensus CDS
    CCDS74812.1
    UniProtKB/TrEMBL
    A0A0A0MR90
    Related
    ENSP00000338932.6, ENST00000337612.9

  8. NM_001270733.2 → NP_001257662.1  bcl-2-like protein 13 isoform g

    See identical proteins and their annotated locations for NP_001257662.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks multiple exons in the 5' region but includes an alternate 5' exon, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (g) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC006285, AK301394
    UniProtKB/TrEMBL
    B7Z737

  9. NM_001270734.2 → NP_001257663.1  bcl-2-like protein 13 isoform h

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) lacks two alternate exons in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (h) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC006285, AK291449, AL831982
    Consensus CDS
    CCDS59447.1
    UniProtKB/TrEMBL
    E9PDD6, Q86T62
    Related
    ENSP00000347133.3, ENST00000355028.4

  10. NM_001270735.2 → NP_001257664.1  bcl-2-like protein 13 isoform i

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) lacks three alternate exons in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (i) is shorter and has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC006285, DA169152
    Consensus CDS
    CCDS74813.1
    UniProtKB/TrEMBL
    A0A087WW80
    Related
    ENSP00000480014.1, ENST00000616863.4

  11. NM_001363824.1 → NP_001350753.1  bcl-2-like protein 13 isoform j

    Status: REVIEWED

    Description
    Transcript Variant: This variant (14) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (j) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    AC006285
    Consensus CDS
    CCDS86995.1
    Related
    ENSP00000434764.1, ENST00000493680.5
    Conserved Domains (1) summary
    pfam00452
    Location:109 → 200
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family

  12. NM_015367.4 → NP_056182.2  bcl-2-like protein 13 isoform a

    See identical proteins and their annotated locations for NP_056182.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
    Source sequence(s)
    AC006285
    Consensus CDS
    CCDS13746.1
    UniProtKB/Swiss-Prot
    B3KPE7, Q96B37, Q96IB7, Q9BXK5, Q9BY01, Q9HC05, Q9UFE0, Q9UKN3
    Related
    ENSP00000318883.5, ENST00000317582.10
    Conserved Domains (1) summary
    pfam00452
    Location:104 → 200
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family

RNA

  1. NR_073068.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) differs at the 5' end and has multiple internal differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC006285, CN420914

  2. NR_073069.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13, also known as Bcl-rambo beta) differs at the 5' end and has multiple internal differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC006285, AF539453

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    17628877..17730855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441286.1 → XP_047297242.1  bcl-2-like protein 13 isoform X1

    UniProtKB/TrEMBL
    A0A087WX97

  2. XM_011546120.2 → XP_011544422.1  bcl-2-like protein 13 isoform X1

    See identical proteins and their annotated locations for XP_011544422.1

    UniProtKB/TrEMBL
    A0A087WX97
    Conserved Domains (1) summary
    pfam00452
    Location:128 → 224
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family

  3. XM_011546119.2 → XP_011544421.1  bcl-2-like protein 13 isoform X1

    See identical proteins and their annotated locations for XP_011544421.1

    UniProtKB/TrEMBL
    A0A087WX97
    Conserved Domains (1) summary
    pfam00452
    Location:128 → 224
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family

  4. XM_017028725.2 → XP_016884214.1  bcl-2-like protein 13 isoform X2

    UniProtKB/TrEMBL
    A0A087WTL4
    Conserved Domains (1) summary
    PRK10811
    Location:281 → 414
    rne; ribonuclease E; Reviewed

  5. XM_047441287.1 → XP_047297243.1  bcl-2-like protein 13 isoform X3

  6. XM_047441291.1 → XP_047297247.1  bcl-2-like protein 13 isoform X7

    UniProtKB/TrEMBL
    E9PDD6

  7. XM_047441290.1 → XP_047297246.1  bcl-2-like protein 13 isoform X6

    Related
    ENSP00000382682.1, ENST00000399782.5

  8. XM_047441293.1 → XP_047297249.1  bcl-2-like protein 13 isoform X9

  9. XM_047441294.1 → XP_047297250.1  bcl-2-like protein 13 isoform X10

    UniProtKB/TrEMBL
    F2Z2C3
    Related
    ENSP00000436321.1, ENST00000498133.5

  10. XM_047441292.1 → XP_047297248.1  bcl-2-like protein 13 isoform X8

  11. XM_047441288.1 → XP_047297244.1  bcl-2-like protein 13 isoform X4

    UniProtKB/TrEMBL
    B2RB43

  12. XM_047441289.1 → XP_047297245.1  bcl-2-like protein 13 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    18296592..18398588
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325435.1 → XP_054181410.1  bcl-2-like protein 13 isoform X1

    UniProtKB/TrEMBL
    A0A087WX97

  2. XM_054325445.1 → XP_054181420.1  bcl-2-like protein 13 isoform X10

    UniProtKB/TrEMBL
    F2Z2C3

  3. XM_054325437.1 → XP_054181412.1  bcl-2-like protein 13 isoform X2

    UniProtKB/TrEMBL
    A0A087WTL4

  4. XM_054325438.1 → XP_054181413.1  bcl-2-like protein 13 isoform X3

  5. XM_054325442.1 → XP_054181417.1  bcl-2-like protein 13 isoform X7

    UniProtKB/TrEMBL
    E9PDD6

  6. XM_054325444.1 → XP_054181419.1  bcl-2-like protein 13 isoform X9

  7. XM_054325443.1 → XP_054181418.1  bcl-2-like protein 13 isoform X8

  8. XM_054325436.1 → XP_054181411.1  bcl-2-like protein 13 isoform X1

    UniProtKB/TrEMBL
    A0A087WX97

  9. XM_054325441.1 → XP_054181416.1  bcl-2-like protein 13 isoform X6

  10. XM_054325439.1 → XP_054181414.1  bcl-2-like protein 13 isoform X4

    UniProtKB/TrEMBL
    B2RB43

  11. XM_054325440.1 → XP_054181415.1  bcl-2-like protein 13 isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BXK5.1 GenPept UniProtKB/Swiss-Prot:Q9BXK5

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