Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 599, updated on 7-Dec-2014
Official Symbol
BCL2L2provided by HGNC
Official Full Name
BCL2-like 2provided by HGNC
Primary source
HGNC:HGNC:995
See related
Ensembl:ENSG00000129473; HPRD:03569; 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]
See BCL2L2 in Epigenomics, MapViewer
Location:
14q11.2-q12
Exon count:
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

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
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein homodimerization activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
intrinsic apoptotic signaling pathway in response to DNA damage IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
spermatogenesis TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
bcl-2-like protein 2
Names
bcl-2-like protein 2
apoptosis regulator BCL-W
protein phosphatase 1, regulatory subunit 51

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 proteins identical to 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 (2) summary
    cd06845
    Location:9147
    Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
    TIGR00865
    Location:11193
    bcl-2; apoptosis regulator
  2. NM_004050.4NP_004041.1  bcl-2-like protein 2

    See proteins identical to 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, OTTHUMP00000027940, ENST00000250405, OTTHUMT00000071763
    Conserved Domains (2) summary
    cd06845
    Location:9147
    Bcl-2_like; Apoptosis regulator proteins of the Bcl-2 family, named after B-cell lymphoma 2. This alignment model spans what have been described as Bcl-2 homology regions BH1, BH2, BH3, and BH4. Many members of this family have an additional C-terminal transmembrane ...
    TIGR00865
    Location:11193
    bcl-2; apoptosis regulator

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

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

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    23774641..23779638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    3892647..3897644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)