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BCL2L2 BCL2 like 2 [ Homo sapiens (human) ]

Gene ID: 599, updated on 12-Aug-2018

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; Vega:OTTHUMG00000028738
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

Genomic context

See BCL2L2 in Genome Data Viewer
Location:
14q11.2
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (23306762..23311759)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23775971..23790241)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3 histone family member 3A pseudogene 2 Neighboring gene protein phosphatase 1 regulatory subunit 3E Neighboring gene BCL2L2-PABPN1 readthrough Neighboring gene poly(A) binding protein nuclear 1 Neighboring gene solute carrier family 22 member 17

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Apoptosis, organism-specific biosystem (from WikiPathways)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptosis Modulation and Signaling, organism-specific biosystem (from WikiPathways)
    Apoptosis Modulation and Signaling, organism-specific biosystemApoptosis, or cell death program, can be activated by various mechanisms within the extrinsic and the intrinsic pathway. While activation of cell death receptors leads to the engagement of the extrin...
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
    MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • MicroRNAs in cancer, conserved biosystem (from KEGG)
    MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
  • Photodynamic therapy-induced NF-kB survival signaling, organism-specific biosystem (from WikiPathways)
    Photodynamic therapy-induced NF-kB survival signaling, organism-specific biosystemPhotodynamic therapy may induce a pro-inflammatory and angiogenic response mediated by NF-?B.
  • Regulation of Apoptosis by Parathyroid Hormone-related Protein, organism-specific biosystem (from WikiPathways)
    Regulation of Apoptosis by Parathyroid Hormone-related Protein, organism-specific biosystemThis pathway is based on Figure 8 of "Parathyroid hormone-related protein regulates cell survival pathways via integrin alpha6beta4-mediated activation of phosphatidylinositol 3-kinase/Akt signaling....

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough BCL2L2-PABPN1

Readthrough gene: BCL2L2-PABPN1, Included gene: PABPN1

Homology

Clone Names

  • KIAA0271

Gene Ontology Provided by GOA

Function Evidence Code Pubs
BH domain binding IEA
Inferred from Electronic Annotation
more info
 
disordered domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein heterodimerization activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
Sertoli cell proliferation IEA
Inferred from Electronic Annotation
more info
 
extrinsic apoptotic signaling pathway in absence of ligand IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of intrinsic apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
spermatogenesis TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Bcl-2 family protein complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear inclusion body IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
bcl-2-like protein 2
Names
apoptosis regulator BCL-W
protein phosphatase 1, regulatory subunit 51

NCBI Reference Sequences (RefSeq)

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_001199839.1NP_001186768.1  bcl-2-like protein 2

    See identical proteins and their annotated locations for NP_001186768.1

    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, BC104789, BQ001111, BQ359913, DA288957, DA451936
    Consensus CDS
    CCDS9591.1
    UniProtKB/Swiss-Prot
    Q92843
    Conserved Domains (1) summary
    TIGR00865
    Location:11193
    bcl-2; apoptosis regulator
  2. NM_004050.4NP_004041.1  bcl-2-like protein 2

    See identical proteins and their annotated locations for NP_004041.1

    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, BC104789, BP216712, BQ001111, BQ359913
    Consensus CDS
    CCDS9591.1
    UniProtKB/Swiss-Prot
    Q92843
    Related
    ENSP00000250405.5, OTTHUMP00000027940, ENST00000250405.9, OTTHUMT00000071763
    Conserved Domains (1) summary
    TIGR00865
    Location:11193
    bcl-2; apoptosis regulator

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    23306762..23311759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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