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BCL2L2-PABPN1 Gene

protein-coding   GIFtS: 32
GCID: GC14P023792

BCL2L2-PABPN1 Readthrough

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BCL2L2-PABPN1 Readthrough1 2
BCL2L2-PABPN1 Protein2
BCLW3
Bcl2-L-23
KIAA02713
Apoptosis Regulator Bcl-W3

External Ids:    HGNC: 429591   Entrez Gene: 1005290632   Ensembl: ENSG000002586437   UniProtKB: Q928433   

Export aliases for BCL2L2-PABPN1 gene to outside databases

Previous GC identifers: GC14U901221 GC14P023777


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BCL2L2-PABPN1 Gene:
This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2)
and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a
fusion protein that shares sequence identity with each individual gene product. (provided by RefSeq, Dec 2010)

GeneCards Summary for BCL2L2-PABPN1 Gene:
BCL2L2-PABPN1 (BCL2L2-PABPN1 readthrough) is a protein-coding gene. Diseases associated with BCL2L2-PABPN1 include influenza. An important paralog of this gene is PABPN1L.

UniProtKB/Swiss-Prot: B2CL2_HUMAN, Q92843
Function: Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli
cells by suppressing death-promoting activity of BAX




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for BCL2L2-PABPN1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for BCL2L2-PABPN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BCL2L2-PABPN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

BCL2L2-PABPN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCL2L2-PABPN1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P023792:  view genomic region     (about GC identifiers)

Start:
23,775,971 bp from pter      End:
23,795,394 bp from pter
Size:
19,424 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: B2CL2_HUMAN, Q92843 (See protein sequence)
Recommended Name: Bcl-2-like protein 2  
Size: 193 amino acids; 20746 Da
Subunit: Interacts with BOP (By similarity)
Sequence caution: Sequence=BAA19666.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
4 PDB 3D structures from and Proteopedia for BCL2L2-PABPN1:
1MK3 (3D)        1O0L (3D)        1ZY3 (3D)        2Y6W (3D)    
Secondary accessions: A8K0F4 Q2M3U0 Q5U0H4
Alternative splicing: 2 isoforms:  Q92843-1   Q92843-2   (Based on a readthrough transcript which may produce a BCL2L2-PABPN1 fusion protein. No experimental confirmation available. Contains a phosphoserine at position 177)

Explore the universe of human proteins at neXtProt for BCL2L2-PABPN1: NX_Q92843

Explore proteomics data for BCL2L2-PABPN1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BCL2L2-PABPN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001186793.1  
    ENSEMBL proteins: 
     ENSP00000451320   ENSP00000450916   ENSP00000452479  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR013280 Apop_reg_BclW
     IPR020717 Bcl2_BH1_motif_CS
     IPR020726 Bcl2_BH2_motif_CS
     IPR020731 Bcl2_BH4_motif_CS
     IPR003093 Bcl2_BH4

    Graphical View of Domain Structure for InterPro Entry Q92843

    ProtoNet protein and cluster: Q92843

    2 Blocks protein domains:
    IPB000712 Apoptosis regulator Bcl-2 protein
    IPB003093 Apoptosis regulator Bcl-2 protein


    UniProtKB/Swiss-Prot: B2CL2_HUMAN, Q92843
    Domain: The BH4 motif seems to be involved in the anti-apoptotic function
    Domain: The BH1 and BH2 motifs form a hydrophobic groove which acts as a docking site for the BH3 domain of some
    pro-apoptotic proteins. The C-terminal residues of BCL2L2 fold into the BH3-binding cleft and modulate
    pro-survival activity by regulating ligand access. When BH3 domain-containing proteins bind, they displace the
    C-terminus, allowing its insertion into the membrane and neutralizing the pro-survival activity of BCL2L2
    Similarity: Belongs to the Bcl-2 family


    BCL2L2-PABPN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B2CL2_HUMAN, Q92843
    Function: Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli
    cells by suppressing death-promoting activity of BAX

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003676nucleic acid binding ----
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity ----
    GO:0046982protein heterodimerization activity ----
         
    BCL2L2-PABPN1 for ontologies           About GeneDecksing


    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    B2CL2_HUMAN, Q92843: Mitochondrion membrane; Peripheral membrane protein. Note=Loosely associated with the
    mitochondrial membrane in healthy cells. During apoptosis, tightly bound to the membrane

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm ----
    GO:0005741mitochondrial outer membrane ----
    GO:0005829cytosol ----
    GO:0031966mitochondrial membrane ----

    BCL2L2-PABPN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BCL2L2-PABPN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Influenza A
    Influenza A0.34
    2mRNA surveillance pathway
    mRNA surveillance pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Kegg Pathways  (Kegg details for BCL2L2-PABPN1):
        mRNA surveillance pathway
    Influenza A


    BCL2L2-PABPN1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BCL2L2-PABPN1
    Interactions:

        Search GeneGlobe Interaction Network for BCL2L2-PABPN1

    Selected Interacting proteins for BCL2L2-PABPN1 (Q928431, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53BP2Q136251, 2, 3EBI-707714,EBI-77642 MINT-7235907 MINT-7235618 I2D: score=1 
    BCL2L11O435211, 3EBI-707714,EBI-526406 I2D: score=5 
    BIDP559571, 3EBI-707714,EBI-519672 I2D: score=5 
    BIKQ133231, 3EBI-707714,EBI-700794 I2D: score=5 
    BBC3Q9BXH11, 3EBI-707714,EBI-519884 I2D: score=4 
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    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process ----
    GO:0007283spermatogenesis ----
    GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage ----
    GO:0042981regulation of apoptotic process ----
    GO:0043066negative regulation of apoptotic process ----

    BCL2L2-PABPN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BCL2L2-PABPN1 (B2CL2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BCL2L2-PABPN1 gene: 
    NM_001199864.1  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553781 ENST00000556100 ENST00000557008
    miRNA
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    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BCL2L2-PABPN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BCL2L2-PABPN1 Expression
    About this image

    BCL2L2-PABPN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCL2L2-PABPN1 Protein Expression

    UniProtKB/Swiss-Prot: B2CL2_HUMAN, Q92843
    Tissue specificity: Expressed (at protein level) in a wide range of tissues with highest levels in brain, spinal
    cord, testis, pancreas, heart, spleen and mammary glands. Moderate levels found in thymus, ovary and small
    intestine. Not detected in salivary gland, muscle or liver. Also expressed in cell lines of myeloid, fibroblast
    and epithelial origin. Not detected in most lymphoid cell lines

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for BCL2L2-PABPN1 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    65(a)
    1 → many
    GL343680.1(251270-259901)
    zebrafish
    (Danio rerio)
    Actinopterygii pabpn11 poly(A) binding protein, nuclear 1 69.14(n)
    74.54(a)
      406543  NM_213259.2  NP_998424.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pabp26
    Pabp2
    53(a)
    1 → many
    2R(4018938-4021879)
    worm
    (Caenorhabditis elegans)
    Secernentea pabp-26
    Protein PABP-2 (pabp-2) mRNA, complete cds
    49(a)
    1 → many
    I(9420906-9421992) WBGene00003904
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SGN16
    Cytoplasmic RNA-binding protein, contains an RNA r...
    21(a)
    1 → many
    IX(356143-356895) YIR001C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PABN11 PABN1 58.09(n)
    57.35(a)
      835186  NM_124491.2  NP_568751.1 
            Species with no ortholog for BCL2L2-PABPN1

    ENSEMBL Gene Tree for BCL2L2-PABPN1 (if available)
    TreeFam Gene Tree for BCL2L2-PABPN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BCL2L2-PABPN1 gene
    PABPN1L2  PABPN12  
    5 SIMAP similar genes for BCL2L2-PABPN1 using alignment to 1 protein entry:     G3V2X3_HUMAN:
    BCL2L2    BCL2L1    bcl-2    BCL2    BAX

    BCL2L2-PABPN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BCL2L2-PABPN1 (see all 86)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1932792471,2
    --23781513(+) AAAAAC/TACAAA 1 -- int10--------
    rs1851159021,2
    --23781581(+) ATGAGA/GATCAC 1 -- int10--------
    rs560441561,2
    C,F--23781699(+) GGCAAG/AGCGGA 1 -- int12Minor allele frequency- A:0.01NA 122
    rs1412703111,2
    --23781702(+) AAGGCA/GGAGTC 1 -- int10--------
    rs567525051,2
    C--23781897(+) AGGTGG/AGAATT 1 -- int12Minor allele frequency- A:0.09CSA WA 120
    rs80090571,2
    C,F,A,H--23781957(+) GTTAAA/GTTGCA 1 -- int110Minor allele frequency- G:0.07NS EA NA WA 1210
    rs1155480271,2
    F--23781988(+) GAATCC/TAGCAT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1904073771,2
    --23782063(+) GTGAAC/TATGGC 1 -- int10--------
    rs1812774761,2
    --23782165(+) AATGAC/TTGATT 1 -- int10--------
    rs1433994891,2
    C--23782459(+) TTCCTC/TTTAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for BCL2L2-PABPN1 (23775971 - 23795394 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BCL2L2-PABPN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv901493CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for BCL2L2-PABPN1:    
    About MalaCards
    influenza


    BCL2L2-PABPN1 for disorders           About GeneDecksing


    Export disorders for BCL2L2-PABPN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BCL2L2-PABPN1 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with BCL2L2-PABPN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    2. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    5. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    6. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PubMed id 20967262)1 Prakash T....Taylor T.D. (PLoS ONE 2010)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    8. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    9. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (Sci. Signal. 2009)
    10. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (Proc. Natl. Acad. Sci. U.S.A. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 100529063 HGNC: 42959 Ensembl:ENSG00000258643 euGenes: HUgn100529063 ECgene: BCL2L2-PABPN1 Kegg: 100529063
    H-InvDB: BCL2L2-PABPN1

    (According to HUGE)
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    HUGE: KIAA0271

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BCL2L2-PABPN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for BCL2L2-PABPN1 gene:
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