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BCL2L13 BCL2 like 13 [ Homo sapiens (human) ]

Gene ID: 23786, updated on 9-Dec-2024

Summary

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
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 apoptotic process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in canonical glycolysis IEA
Inferred from Electronic Annotation
more info
 
involved_in fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in mitochondrion organization IEA
Inferred from Electronic Annotation
more info
 
involved_in mitophagy IEA
Inferred from Electronic Annotation
more info
 
involved_in oxidative phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cysteine-type endopeptidase activity 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

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_001270726.1NP_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:128224
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  2. NM_001270727.1NP_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_001270728.2NP_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_001270729.2NP_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:138
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  5. NM_001270730.2NP_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:138
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  6. NM_001270731.2NP_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:138
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  7. NM_001270732.2NP_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_001270733.2NP_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_001270734.2NP_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_001270735.2NP_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_001363824.1NP_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:109200
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  12. NM_015367.4NP_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:104200
    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_047441286.1XP_047297242.1  bcl-2-like protein 13 isoform X1

    UniProtKB/TrEMBL
    A0A087WX97
  2. XM_011546120.2XP_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:128224
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  3. XM_011546119.2XP_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:128224
    Bcl-2; Apoptosis regulator proteins, Bcl-2 family
  4. XM_017028725.2XP_016884214.1  bcl-2-like protein 13 isoform X2

    UniProtKB/TrEMBL
    A0A087WTL4
    Conserved Domains (1) summary
    PRK10811
    Location:281414
    rne; ribonuclease E; Reviewed
  5. XM_047441287.1XP_047297243.1  bcl-2-like protein 13 isoform X3

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

    UniProtKB/TrEMBL
    E9PDD6, Q86T62
  7. XM_047441290.1XP_047297246.1  bcl-2-like protein 13 isoform X6

    Related
    ENSP00000382682.1, ENST00000399782.5
  8. XM_047441293.1XP_047297249.1  bcl-2-like protein 13 isoform X9

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

    UniProtKB/TrEMBL
    F2Z2C3
    Related
    ENSP00000436321.1, ENST00000498133.5
  10. XM_047441292.1XP_047297248.1  bcl-2-like protein 13 isoform X8

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

    UniProtKB/TrEMBL
    A8K5Y4, B2RB43
  12. XM_047441289.1XP_047297245.1  bcl-2-like protein 13 isoform X5

    UniProtKB/TrEMBL
    A8K5Y4

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_054325435.1XP_054181410.1  bcl-2-like protein 13 isoform X1

    UniProtKB/TrEMBL
    A0A087WX97
  2. XM_054325445.1XP_054181420.1  bcl-2-like protein 13 isoform X10

    UniProtKB/TrEMBL
    F2Z2C3
  3. XM_054325437.1XP_054181412.1  bcl-2-like protein 13 isoform X2

    UniProtKB/TrEMBL
    A0A087WTL4
  4. XM_054325438.1XP_054181413.1  bcl-2-like protein 13 isoform X3

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

    UniProtKB/TrEMBL
    E9PDD6, Q86T62
  6. XM_054325444.1XP_054181419.1  bcl-2-like protein 13 isoform X9

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

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

    UniProtKB/TrEMBL
    A0A087WX97
  9. XM_054325441.1XP_054181416.1  bcl-2-like protein 13 isoform X6

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

    UniProtKB/TrEMBL
    A8K5Y4, B2RB43
  11. XM_054325440.1XP_054181415.1  bcl-2-like protein 13 isoform X5

    UniProtKB/TrEMBL
    A8K5Y4