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BCL2L2 BCL2 like 2 [ Homo sapiens (human) ]

Gene ID: 599, updated on 3-Oct-2020

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
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
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (23306833..23311751)
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 ring finger protein 212B Neighboring gene homeobox and leucine zipper encoding Neighboring gene BCL2L2-PABPN1 readthrough Neighboring gene protein phosphatase 1 regulatory subunit 3E Neighboring gene H3 histone pseudogene 37 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 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

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 homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Sertoli cell proliferation IEA
Inferred from Electronic Annotation
more info
 
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular response to amyloid-beta IEA
Inferred from Electronic Annotation
more info
 
cellular response to estradiol stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to glycine 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 
negative regulation of mitochondrial membrane permeability IEA
Inferred from Electronic Annotation
more info
 
negative regulation of release of cytochrome c from mitochondria IEA
Inferred from Electronic Annotation
more info
 
response to ischemia IEA
Inferred from Electronic Annotation
more info
 
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 

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_001199839.2NP_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
    Conserved Domains (1) summary
    TIGR00865
    Location:11193
    bcl-2; apoptosis regulator
  2. NM_004050.5NP_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
    Related
    ENSP00000250405.5, ENST00000250405.9
    Conserved Domains (1) summary
    TIGR00865
    Location:11193
    bcl-2; apoptosis regulator

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    23306833..23311751
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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