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BCL2L2 Gene

protein-coding   GIFtS: 68
GCID: GC14P023791

BCL2-Like 2

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(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
BCL2-Like 21 2     BCL2-L-22
BCLW2 3 5     PPP1R512
Apoptosis Regulator Bcl-W2 3     Bcl-2-Like Protein 22
Protein Phosphatase 11     Protein Phosphatase 1, Regulatory Subunit 512
Regulatory Subunit 511     Bcl2-L-23
BCL-W2     KIAA02713

External Ids:    HGNC: 9951   Entrez Gene: 5992   Ensembl: ENSG000001294737   OMIM: 6019315   UniProtKB: Q928433   

Export aliases for BCL2L2 gene to outside databases

Previous GC identifers: GC14P021148 GC14P017563 GC14P021766 GC14P022845 GC14P023776 GC14P003892


(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 Gene:
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)

GeneCards Summary for BCL2L2 Gene:
BCL2L2 (BCL2-like 2) is a protein-coding gene. Diseases associated with BCL2L2 include small intestine adenocarcinoma, and severe acute respiratory syndrome. An important paralog of this gene is BAK1.

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

Gene Wiki entry for BCL2L2 Gene


(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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RefSeq DNA sequence:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the BCL2L2 gene promoter:
         STAT1   E2F   E2F-1   Sp1   E2F-2   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBCL2L2 promoter sequence
   Search Chromatin IP Primers for BCL2L2

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


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

Entrez Gene cytogenetic band: 14q11.2-q12   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2-q12

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P023791:  view genomic region     (about GC identifiers)

Start:
23,767,999 bp from pter      End:
23,780,968 bp from pter
Size:
12,970 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, and/or Cloud-Clone Corp.)
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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:
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: NX_Q92843

Explore proteomics data for BCL2L2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys164, Lys234, Lys250
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001186768.1  NP_004041.1  

    ENSEMBL proteins: 
     ENSP00000451148   ENSP00000250405   ENSP00000451701   ENSP00000452265   ENSP00000451234  
     ENSP00000451197  

    BCL2L2 Human Recombinant Protein Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    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 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

         Genatlas biochemistry entry for BCL2L2:
    BCL2-like 2,antiapoptotic,expressed in lymphoid and myeloid cells

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15694340
    GO:0042803protein homodimerization activity IBA--
    GO:0046982protein heterodimerization activity IBA--
    GO:0051400BH domain binding IEA--
         
    BCL2L2 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bcl2l2):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     nervous system  reproductive system 

    BCL2L2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bcl2l2tm1Sco for BCL2L2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BCL2L2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BCL2L2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BCL2L2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BCL2L2

    miRNA
    Products:
        
    miRTarBase miRNAs that target BCL2L2:
    hsa-mir-1296-5p (MIRT036076), hsa-mir-195-5p (MIRT007370), hsa-mir-204-5p (MIRT005819), hsa-mir-122-5p (MIRT004364), hsa-mir-133b (MIRT001076), hsa-mir-214-3p (MIRT007294), hsa-mir-24-3p (MIRT030447), hsa-mir-630 (MIRT005579), hsa-mir-203a (MIRT005453)

    Block miRNA regulation of human, mouse, rat BCL2L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BCL2L2 (see all 141):
    hsa-miR-194* hsa-miR-140-5p hsa-miR-193a-3p hsa-miR-106a hsa-miR-1224-3p hsa-miR-3921 hsa-miR-519a hsa-miR-1273d
    SwitchGear 3'UTR luciferase reporter plasmidBCL2L2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BCL2L2

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    GenScript: all cDNA clones in your preferred vector (see all 2): BCL2L2 (NM_004050)
    Sino Biological Human cDNA Clone for BCL2L2
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BCL2L2


    (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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    extracellular1
    peroxisome1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion ----
    GO:0005741mitochondrial outer membrane IBA--
    GO:0005829cytosol IEA--
    GO:0031966mitochondrial membrane ----

    BCL2L2 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 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Apoptosis (WikiPathways)
    Apoptosis0.38
    Apoptosis Modulation and Signaling0.38
    2TNF Signaling
    Death Receptor Signaling0.50
    3MicroRNAs in cancer
    MicroRNAs in cancer
    4Direct p53 effectors
    Direct p53 effectors
    5Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins
    Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for BCL2L2
        Apoptosis and Autophagy

    1 GeneGo (Thomson Reuters) Pathway for BCL2L2
        Apoptosis and survival Regulation of Apoptosis by Mitochondrial Proteins

    3 BioSystems Pathways for BCL2L2
        Apoptosis
    Apoptosis Modulation and Signaling
    Direct p53 effectors

    1 Sino Biological Pathway for BCL2L2
        Death Receptor Signaling


    1 Kegg Pathway  (Kegg details for BCL2L2):
        MicroRNAs in cancer


    BCL2L2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BCL2L2: 
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BCL2L2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BCL2L2 (Q928431, 2, 3 ENSP000002504054) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BBC3Q9BXH11, 3, ENSP000004045034EBI-707714,EBI-519884 I2D: score=4 STRING: ENSP00000404503
    BAXQ078121, 3, ENSP000002932884EBI-707714,EBI-516580 I2D: score=2 STRING: ENSP00000293288
    BCL2L11O435211, 3EBI-707714,EBI-526406 I2D: score=5 
    TP53BP2Q136251, 2, 3, ENSP000003419574EBI-707714,EBI-77642 MINT-7235907 MINT-7235618 I2D: score=1 STRING: ENSP00000341957
    BIDP559571, 3, ENSP000003188224EBI-707714,EBI-519672 I2D: score=5 STRING: ENSP00000318822
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process ----
    GO:0007283spermatogenesis TAS8761287
    GO:0008630intrinsic apoptotic signaling pathway in response to DNA damage IBA--
    GO:0042981regulation of apoptotic process ----
    GO:0043066negative regulation of apoptotic process IMP17289999

    BCL2L2 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
    Selected ApexBio Compounds for BCL2L2 (see all 19)     About this table
    CompoundAction CAS #
    2,3-DCPE hydrochlorideSelectively induces apoptosis and downregulates Bcl-XL protein expression in various human cancer cells versus normal cells in vitro[418788-90-6]
    ABT-199Selective Bcl-2 inhibitor[1257044-40-8]
    ABT-263 (Navitoclax)orally sellecitive inhibitor of Bcl-2 family proteins[923564-51-6]
    ABT-737novel and potent inhibitor of BCL-2 family proteins[852808-04-9]
    Apogossypolone (ApoG2)pan Bcl-2 inhibitor[886578-07-0]
    AT-101R-(-) enantiomer of Gossypol acetic acid, binds with Bcl-2, Bcl-xL and Mcl-1[90141-22-3]
    Bax channel blockerPotent inhibitor of Bax-mediated mitochondrial cytochrome c release[335165-68-9]
    Bax inhibitor peptide P5Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria[579492-83-4]
    Bax inhibitor peptide V5Cell-permeable synthetic peptide inhibitor of Bax translocation to mitochondria[579492-81-2]
    Bax inhibitor peptide, negative controlNegative control peptide for the Bax inhibitor peptides V5 and P5[1315378-74-5]

    Browse Tocris compounds for BCL2L2 (B2CL2)

    1 Novoseek inferred chemical compound relationship for BCL2L2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cisplatin 24.3 2 19240170 (1)



    BCL2L2 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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 gene (2 alternative transcripts): 
    NM_001199839.1  NM_004050.4  

    Unigene Cluster for BCL2L2:

    BCL2-like 2
    Hs.410026  [show with all ESTs]
    Unigene Representative Sequence: NM_004050
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553824 ENST00000250405(uc001wjg.4 uc021rqx.1 uc001wji.4)
    ENST00000557236 ENST00000557579 ENST00000554635 ENST00000556599

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    Selected qRT-PCR Assays for microRNAs that regulate BCL2L2 (see all 141):
    hsa-miR-194* hsa-miR-140-5p hsa-miR-193a-3p hsa-miR-106a hsa-miR-1224-3p hsa-miR-3921 hsa-miR-519a hsa-miR-1273d
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat BCL2L2
      QuantiFast Probe-based Assays in human, mouse, rat BCL2L2

    Additional mRNA sequence: 

    AK289519.1 BC021198.2 BC104789.1 BC113522.1 BT019549.1 D87461.1 U59747.1 

    10 DOTS entries:

    DT.92015271  DT.95072625  DT.95196148  DT.100788706  DT.456241  DT.100788707  DT.95167766  DT.100045303 
    DT.100045304  DT.91901642 

    Selected AceView cDNA sequences (see all 631):

    AW080354 BM693022 AI637772 BM683167 BM718927 CR613466 BM825354 AI681621 
    BM826006 BM991929 BX420009 AI279367 BQ925876 BX331373 AI247269 BM977823 
    BG698005 AA412599 BE044589 CR591896 AW297018 BU730152 BQ024377 AA476672 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for BCL2L2    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4 ^ 5a · 5b
    SP1:              -     -                                                         
    SP2:                    -                                                         
    SP3:                    -                                                         
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for BCL2L2

    (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 expression in normal human tissues (normalized intensities)      BCL2L2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAGGTTAC
    BCL2L2 Expression
    About this image


    BCL2L2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    BCL2L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BCL2L2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.410026

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BCL2L2: 
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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 chordates.

    Orthologs for BCL2L2 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcl2l21 , 5 BCL2-like 21, 5 93.78(n)1
    98.96(a)1
      14 (27.98 cM)5
    120501  NM_007537.11  NP_031563.11 
     548833775 
    African clawed frog
    (Xenopus laevis)
    Amphibia xR12 X.laevis R1 mRNA 77.57(n)    X82462.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BCL2L2 gene
    BAK12  BCL22  BCL2L12  
    5 SIMAP similar genes for BCL2L2 using alignment to 6 protein entries:     B2CL2_HUMAN (see all proteins):
    BCL2L2-PABPN1    BCL2L1    BCL2    bcl-2    BAX

    BCL2L2 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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    1 SNPs for BCL2L2    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs9103321,2,4
    ----see VAR_0484182 mis40--------

    HapMap Linkage Disequilibrium report for BCL2L2 (23767999 - 23780968 bp)

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

    Human Gene Mutation Database (HGMD): BCL2L2
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing BCL2L2
    DNA2.0 Custom Variant and Variant Library Synthesis for BCL2L2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601931    OMIM disorders: --

    Selected diseases for BCL2L2 (see all 42):    About MalaCards
    small intestine adenocarcinoma    severe acute respiratory syndrome    spinal cord injury    parathyroid adenoma
    chronic myeloid leukemia    non-hodgkin lymphoma    hodgkin's lymphoma    male infertility
    gingivitis    infertility    adult t-cell leukemia    multiple myeloma
    adenoma    alzheimer's disease    tonsillitis    periodontitis
    influenza    myeloma    chronic lymphocytic leukemia    lymphoblastic leukemia


    BCL2L2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    6 Novoseek inferred disease relationships for BCL2L2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 26.8 3 18767026 (1), 16996562 (1), 18289121 (1)
    adenoma 0.374 4 10944610 (2), 10638987 (2)
    necrosis 0 3 20062536 (2), 12696008 (1)
    adenocarcinoma 0 3 10638987 (3)
    tumors 0 2 12696008 (1), 16996562 (1)
    alzheimers disease 0 1 15147516 (1)

    Genetic Association Database (GAD): BCL2L2
    Human Genome Epidemiology (HuGE) Navigator: BCL2L2 (11 documents)

    Export disorders for BCL2L2 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 gene, integrated from 10 sources (see all 133):
    (articles sorted by number of sources associating them with BCL2L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Bcl-w, a novel member of the Bcl-2 family, promotes cell survival. (PubMed id 8761287)1, 2, 3, 9 Gibson L.... Cory S. (Oncogene 1996)
    2. Solution structure of human BCL-w: modulation of ligand binding by the C-terminal helix. (PubMed id 12651847)1, 2, 9 Denisov A.Y.... Gehring K. (J. Biol. Chem. 2003)
    3. The IFNG (IFN-gamma) genotype predicts cytogenetic and molecular response to imatinib therapy in chronic myeloid leukemia. (PubMed id 20959405)1, 4 Kim D.H....Lipton J.H. (Clin. Cancer Res. 2010)
    4. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Germline variation in apoptosis pathway genes and risk of non-Hodgkin's lymphoma. (PubMed id 20855536)1, 4 Kelly J.L....Cerhan J.R. (amp 2010)
    7. Identification of potentially damaging amino acid substitutions leading to human male infertility. (PubMed id 19369647)1, 4 Kuzmin A....Varmuza S. (Biol. Reprod. 2009)
    8. Genetic variants in the candidate genes of the apoptosis pathway and susceptibility to chronic myeloid leukemia. (PubMed id 19141860)1, 4 Kim D.H....Lipton J.H. (Blood 2009)
    9. Common genetic variants in candidate genes and risk of familial lymphoid malignancies. (PubMed id 19573080)1, 4 Liang X.S....Goldin L.R. (Br. J. Haematol. 2009)
    10. Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development. (PubMed id 19336552)1, 4 Morton L.M....Hartge P. (amp 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 599 HGNC: 995 AceView: BCL2L2andPABPN1 Ensembl:ENSG00000129473 euGenes: HUgn599
    ECgene: BCL2L2 Kegg: 599 H-InvDB: BCL2L2

    (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 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCL2L2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BCL2L2 gene:
    Search GeneIP for patents involving BCL2L2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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