BCL2L2 BCL2 like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BCL2L2provided by HGNC
Official Full Name: BCL2 like 2provided by HGNC
Primary source: HGNC:HGNC:995
See related: Ensembl:ENSG00000129473 MIM:601931; AllianceGenome:HGNC:995
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: BCLW; BCL-W; PPP1R51; BCL2-L-2
Summary: This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gene in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]
Expression: Ubiquitous expression in brain (RPKM 35.0), fat (RPKM 31.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23306833..23311751)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17507847..17512765)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23776042..23780960)

Chromosome 14 - NC_000014.9 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BCL-W makes only minor contributions to MYC-driven lymphoma development.
Title: BCL-W makes only minor contributions to MYC-driven lymphoma development.
MiR-140 promotes the progression of intracranial aneurysms by targeting BCL2L2.
Title: MiR-140 promotes the progression of intracranial aneurysms by targeting BCL2L2.
Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells.
Title: Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells.
BCL-W expression associates with poor outcome in patients with peripheral T-cell lymphoma not otherwise specified.
Title: BCL-W expression associates with poor outcome in patients with peripheral T-cell lymphoma not otherwise specified.
BCL2L2 loss renders -14q renal cancer dependent on BCL2L1 that mediates resistance to tyrosine kinase inhibitors.
Title: BCL2L2 loss renders -14q renal cancer dependent on BCL2L1 that mediates resistance to tyrosine kinase inhibitors.
MT1JP-mediated miR-24-3p/BCL2L2 axis promotes Lenvatinib resistance in hepatocellular carcinoma cells by inhibiting apoptosis.
Title: MT1JP-mediated miR-24-3p/BCL2L2 axis promotes Lenvatinib resistance in hepatocellular carcinoma cells by inhibiting apoptosis.
Knockdown of circ_0011946 targets miR-216a-5p/BCL2L2 axis to regulate proliferation, migration, invasion and apoptosis of oral squamous cell carcinoma cells.
Title: Knockdown of circ_0011946 targets miR-216a-5p/BCL2L2 axis to regulate proliferation, migration, invasion and apoptosis of oral squamous cell carcinoma cells.
Long non-coding RNA KCNQ1OT1 promotes hydrogen peroxide-induced lens epithelial cell apoptosis and oxidative stress by regulating miR-223-3p/BCL2L2 axis.
Title: Long non-coding RNA KCNQ1OT1 promotes hydrogen peroxide-induced lens epithelial cell apoptosis and oxidative stress by regulating miR-223-3p/BCL2L2 axis.
results suggest that BCL-W is not universally required for the sustained growth and survival of human Burkitt lymphoma and diffuse large B-cell lymphoma cell lines
Title: BCL-W is dispensable for the sustained survival of select Burkitt lymphoma and diffuse large B-cell lymphoma cell lines.
BCL2L2 was identified as a target of miR-15.
Title: Deletion of miR-15 Protects Against Rheumatoid Arthritis via Deregulating its Target Gene BCL2L2 and Repressing NF-κB Pathway.

Submit: New GeneRIF Correction See all GeneRIFs (56)

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

BCL2L2_718 (e-PCR)
- UniSTS:277027

NoName (e-PCR)
- UniSTS:488076

EST16D6 (e-PCR)
- UniSTS:263142

MARC_5753-5754:996690790:1 (e-PCR)
- UniSTS:269559

RH75103 (e-PCR)
- UniSTS:91127

Readthrough BCL2L2-PABPN1

Readthrough gene: BCL2L2-PABPN1, Included gene: PABPN1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BH domain binding	IEA Inferred from Electronic Annotation more info
enables channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables disordered domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Sertoli cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amyloid-beta	IEA Inferred from Electronic Annotation more info
involved_in cellular response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to glycine	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of mitochondrial membrane permeability	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of release of cytochrome c from mitochondria	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in release of cytochrome c from mitochondria	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	TAS Traceable Author Statement more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Bcl-2 family protein complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of Bcl-2 family protein complex	IPI Inferred from Physical Interaction more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial outer membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: bcl-2-like protein 2

Names: apoptosis regulator BCL-W; protein phosphatase 1, regulatory subunit 51

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_001199839.2 → NP_001186768.2 bcl-2-like protein 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL049829

Consensus CDS

CCDS9591.1

UniProtKB/Swiss-Prot

A8K0F4, Q2M3U0, Q5U0H4, Q92843

Related

ENSP00000504570.1, ENST00000678311.1

Conserved Domains (1) summary

TIGR00865
Location:11 → 193

bcl-2; apoptosis regulator
NM_004050.5 → NP_004041.2 bcl-2-like protein 2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AL049829

Consensus CDS

CCDS9591.1

UniProtKB/Swiss-Prot

A8K0F4, Q2M3U0, Q5U0H4, Q92843

Related

ENSP00000250405.6, ENST00000250405.10

Conserved Domains (1) summary

TIGR00865
Location:11 → 193

bcl-2; apoptosis regulator