BCL2L13 BCL2 like 13 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH103990 (e-PCR)
- UniSTS:98315

A010A02 (e-PCR)
- UniSTS:49184

G33035 (e-PCR)
- UniSTS:117612

G65560 (e-PCR)
- UniSTS:225402

D22S1246 (e-PCR)
- UniSTS:2689

RH11337 (e-PCR)
- UniSTS:86661

RH48192 (e-PCR)
- UniSTS:43191

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 more info	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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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)

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
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
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
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
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
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
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
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
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
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
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
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

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
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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

17628877..17730855

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A087WX97
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
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
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
XM_047441287.1 → XP_047297243.1 bcl-2-like protein 13 isoform X3
XM_047441291.1 → XP_047297247.1 bcl-2-like protein 13 isoform X7

UniProtKB/TrEMBL

E9PDD6, Q86T62
XM_047441290.1 → XP_047297246.1 bcl-2-like protein 13 isoform X6

Related

ENSP00000382682.1, ENST00000399782.5
XM_047441293.1 → XP_047297249.1 bcl-2-like protein 13 isoform X9
XM_047441294.1 → XP_047297250.1 bcl-2-like protein 13 isoform X10

UniProtKB/TrEMBL

F2Z2C3

Related

ENSP00000436321.1, ENST00000498133.5
XM_047441292.1 → XP_047297248.1 bcl-2-like protein 13 isoform X8
XM_047441288.1 → XP_047297244.1 bcl-2-like protein 13 isoform X4

UniProtKB/TrEMBL

A8K5Y4, B2RB43
XM_047441289.1 → XP_047297245.1 bcl-2-like protein 13 isoform X5

UniProtKB/TrEMBL

A8K5Y4

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

18296592..18398588

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A087WX97
XM_054325445.1 → XP_054181420.1 bcl-2-like protein 13 isoform X10

UniProtKB/TrEMBL

F2Z2C3
XM_054325437.1 → XP_054181412.1 bcl-2-like protein 13 isoform X2

UniProtKB/TrEMBL

A0A087WTL4
XM_054325438.1 → XP_054181413.1 bcl-2-like protein 13 isoform X3
XM_054325442.1 → XP_054181417.1 bcl-2-like protein 13 isoform X7

UniProtKB/TrEMBL

E9PDD6, Q86T62
XM_054325444.1 → XP_054181419.1 bcl-2-like protein 13 isoform X9
XM_054325443.1 → XP_054181418.1 bcl-2-like protein 13 isoform X8
XM_054325436.1 → XP_054181411.1 bcl-2-like protein 13 isoform X1

UniProtKB/TrEMBL

A0A087WX97
XM_054325441.1 → XP_054181416.1 bcl-2-like protein 13 isoform X6
XM_054325439.1 → XP_054181414.1 bcl-2-like protein 13 isoform X4

UniProtKB/TrEMBL

A8K5Y4, B2RB43
XM_054325440.1 → XP_054181415.1 bcl-2-like protein 13 isoform X5

UniProtKB/TrEMBL

A8K5Y4