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    BCL2L13 BCL2 like 13 [ Homo sapiens (human) ]

    Gene ID: 23786, updated on 28-Oct-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17628877..17730855)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (18296592..18398588)
    RS_2024_09 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 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. 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
    2. Bcl-rambo beta, a special splicing variant with an insertion of an Alu-like cassette, promotes etoposide- and Taxol-induced cell death. Yi P, et al. FEBS Lett, 2003 Jan 16. PMID 12527362
    3. The role of BCL2L13 in glioblastoma: turning a need into a target. Jacobs J, et al. Biochem Cell Biol, 2024 Apr 1. PMID 37988705
    4. The expression of 70 apoptosis genes in relation to lineage, genetic subtype, cellular drug resistance, and outcome in childhood acute lymphoblastic leukemia. Holleman A, et al. Blood, 2006 Jan 15. PMID 16189266, Free PMC Article
    5. Bcl-rambo induces apoptosis via interaction with the adenine nucleotide translocator. Kim JY, et al. FEBS Lett, 2012 Sep 21. PMID 22921587

    See all (62) 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 HTP PubMed 
    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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    NEW Try the new Transcript table

    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_2024_08

    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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