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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BCL2L14 Gene

protein-coding   GIFtS: 55
GCID: GC12P012202

BCL2-Like 14 (Apoptosis Facilitator)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
BCL2-Like 14 (Apoptosis Facilitator)1 2
BCLG2 3 5
Apoptosis Regulator Bcl-G2 3
Apoptosis Facilitator Bcl-2-Like Protein 142
bcl2-L-142
Bcl2-L-143

External Ids:    HGNC: 166571   Entrez Gene: 793702   Ensembl: ENSG000001213807   OMIM: 6061265   UniProtKB: Q9BZR83   

Export aliases for BCL2L14 gene to outside databases

Previous GC identifers: GC12P012115 GC12P011989


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BCL2L14 Gene:
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or
homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular
activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced
transcript variants encoding two distinct isoforms have been reported for this gene. (provided by RefSeq, May
2009)

GeneCards Summary for BCL2L14 Gene: 
BCL2L14 (BCL2-like 14 (apoptosis facilitator)) is a protein-coding gene. Diseases associated with BCL2L14 include laryngeal squamous cell carcinoma, and transitional cell carcinoma. GO annotations related to this gene include protein binding and protein kinase binding.

UniProtKB/Swiss-Prot: B2L14_HUMAN, Q9BZR8
Function: Plays a role in apoptosis

Gene Wiki entry for BCL2L14 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_009714.17  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCL2L14 gene promoter:
         IRF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): BCL2L14 promoter sequence
   Search SABiosciences Chromatin IP Primers for BCL2L14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCL2L14


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

Entrez Gene cytogenetic band: 12p13-p12   Ensembl cytogenetic band:  12p13.2   HGNC cytogenetic band: 12p13-p12

BCL2L14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCL2L14 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P012202:  view genomic region     (about GC identifiers)

Start:
12,202,778 bp from pter      End:
12,364,018 bp from pter
Size:
161,241 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: B2L14_HUMAN, Q9BZR8 (See protein sequence)
Recommended Name: Apoptosis facilitator Bcl-2-like protein 14  
Size: 327 amino acids; 36598 Da
Subcellular location: Cytoplasm
Subcellular location: Isoform 1: Cytoplasm, cytosol. Note=Diffusely distributed throughout the cytosol
Subcellular location: Isoform 2: Endomembrane system. Note=Predominantly localized to cytosolic organelles
Secondary accessions: A8KAD0 Q96QR5 Q9BZR7
Alternative splicing: 3 isoforms:  Q9BZR8-1   Q9BZR8-2   Q9BZR8-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for BCL2L14: NX_Q9BZR8

Explore proteomics data for BCL2L14 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by MELK, leading to inhibit its pro-apoptotic function
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BZR8

  • BCL2L14 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BCL2L14 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_110393.1  NP_620048.1  NP_620049.1  

    ENSEMBL proteins: 
     ENSP00000467086   ENSP00000466693   ENSP00000417223   ENSP00000419617   ENSP00000309132  
     ENSP00000379653   ENSP00000266434   ENSP00000465663   ENSP00000298566   ENSP00000379655  

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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IDA11054413
    GO:0012505endomembrane system IEA--
    GO:0016020membrane IEA--
    GO:0043229intracellular organelle IDA11054413

    BCL2L14 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR002475 Bcl2-like

    Graphical View of Domain Structure for InterPro Entry Q9BZR8

    ProtoNet protein and cluster: Q9BZR8

    1 Blocks protein domain: IPB000712 Apoptosis regulator Bcl-2 protein

    UniProtKB/Swiss-Prot: B2L14_HUMAN, Q9BZR8
    Similarity: Belongs to the Bcl-2 family


    BCL2L14 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B2L14_HUMAN, Q9BZR8
    Function: Plays a role in apoptosis

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11054413
    GO:0019901protein kinase binding IPI17280616
         
    BCL2L14 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BCL2L14:
     Decreased cell number 

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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BCL2L14 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Direct p53 effectors
    Direct p53 effectors


    1 BioSystems Pathway for BCL2L14
        Direct p53 effectors


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BCL2L14

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for BCL2L14 (Q9BZR81, 3 ENSP000003091324) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MELKQ146801, 3, ENSP000002980484EBI-1385773,EBI-1046702 I2D: score=1 STRING: ENSP00000298048
    BCL2P104153, ENSP000003296234I2D: score=1 STRING: ENSP00000329623
    BCL2L1Q078173, ENSP000003025644I2D: score=2 STRING: ENSP00000302564
    TP53ENSP000002693054STRING: ENSP00000269305
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IDA17280616
    GO:0042981regulation of apoptotic process IEA--
    GO:2001238positive regulation of extrinsic apoptotic signaling pathway IDA11054413

    BCL2L14 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BCL2L14 (B2L14)

    Search CenterWatch for drugs/clinical trials and news about BCL2L14 / B2L14

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BCL2L14 gene (4 alternative transcripts): 
    NM_030766.1  NM_138722.1  NM_138723.1  NM_138724.1  

    Unigene Cluster for BCL2L14:

    BCL2-like 14 (apoptosis facilitator)
    Hs.210343  [show with all ESTs]
    Unigene Representative Sequence: AF281255
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000589718 ENST00000591235 ENST00000586576 ENST00000545463 ENST00000484949(uc001rab.1)
    ENST00000464885 ENST00000461264 ENST00000479717 ENST00000466531 ENST00000308721
    ENST00000396367(uc001rac.3 uc001rad.3) ENST00000266434(uc001rae.3)
    ENST00000588270 ENST00000298566(uc001raf.1) ENST00000396369
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    Additional mRNA sequence: 

    AF281254.1 AF281255.1 AK223415.1 AK292995.1 BC025778.1 

    6 DOTS entries:

    DT.97826917  DT.91696246  DT.95154810  DT.92046143  DT.121175001  DT.91933821 

    24/46 AceView cDNA sequences (see all 46):

    AA400686 BF589739 NM_138722 AF281254 NM_138723 BX092477 AW001213 BC025778 
    NM_030766 BX483372 AF281255 AI269511 NM_138724 AY040274 AA620708 BM703821 
    AI478889 AI911164 BI833102 AK000127 BG718587 BG720221 AA398276 BX101354 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for BCL2L14 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                  -     -     -                           
    SP2:        -     -     -                             -                                       
    SP3:              -     -                                                                     
    SP4:              -     -                             -                                       
    SP5:        -     -                                                                           


    ECgene alternative splicing isoforms for BCL2L14

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BCL2L14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTTCCACT
    BCL2L14 Expression
    About this image


    See BCL2L14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCL2L14

    SOURCE GeneReport for Unigene cluster: Hs.210343

    UniProtKB/Swiss-Prot: B2L14_HUMAN, Q9BZR8
    Tissue specificity: Isoform 1 is widely expressed. Isoform 2 is testis-specific

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for BCL2L14 gene from 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bcl2l141 , 5 BCL2-like 14 (apoptosis facilitator)1, 5 77.43(n)1
    69.57(a)1
      6 (65.22 cM)5
    668131  NM_025778.31  NP_080054.11 
     1343963185 
    chicken
    (Gallus gallus)
    Aves BCL2L141 BCL2-like 14 (apoptosis facilitator) 60.53(n)
    50.4(a)
      419096  XM_417285.3  XP_417285.3 
    zebrafish
    (Danio rerio)
    Actinopterygii BC059613.12   -- 73.89(n)    BC059613.1 


    ENSEMBL Gene Tree for BCL2L14 (if available)
    TreeFam Gene Tree for BCL2L14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCL2L14 gene
    1 SIMAP similar gene for BCL2L14 using alignment to 5 protein entries:     B2L14_HUMAN (see all proteins):
    ADAM10

    BCL2L14 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/776 SNPs in BCL2L14 are shown (see all 776)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs619231971,2
    C--12003116(+) GCGGGA/CGCCAC 3 -- int16Minor allele frequency- C:0.46WA NA CSA EA 363
    rs114590321,2
    C--12014605(+) AAAAA-/A/AC  
            
    AACCC
    3 -- int1 trp30--------
    rs791284871,2
    C,F--12014606(+) ATGTGG/AAAAAA 3 -- int13Minor allele frequency- A:0.33NA 6
    rs2003474781,2
    --12014618(+) AAAAA-/AAAC  
            
    AACCC
    3 -- int10--------
    rs2012030891,2
    --12014619(+) AAAAA-/AACAACCC 3 -- int10--------
    rs354978811,2
    C--12014621(+) AAAAAC/-AACCC 3 -- int12Minor allele frequency- -:0.25NA 4
    rs1114411581,2
    C--12014621(+) AAAAAC/AAACCC 3 -- int11Minor allele frequency- A:0.50NA 2
    rs24480631,2
    C,F,H--12090490(+) gctgtG/Taggac 1 -- us2k120Minor allele frequency- T:0.31NS EA NA CSA WA 2340
    rs110546641,2
    C,F,H--12090498(+) GACGAC/TCGGAG 1 -- us2k113Minor allele frequency- T:0.04NS EA NA 1758
    rs110546651,2
    F,H--12090631(+) CACTGT/GGTTGT 1 -- us2k17Minor allele frequency- G:0.04NS EA NA 544

    HapMap Linkage Disequilibrium report for BCL2L14 (12202778 - 12364018 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for BCL2L14:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676351CNV Deletion23128226

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606126    OMIM disorders: --

    13 diseases for BCL2L14:    About MalaCards
    laryngeal squamous cell carcinoma    transitional cell carcinoma    narcolepsy    laryngitis
    hodgkin's lymphoma    non-hodgkin lymphoma    acute lymphoblastic leukemia    lymphoblastic leukemia
    squamous cell carcinoma    cervicitis    leukemia    lung cancer
    breast cancer


    BCL2L14 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BCL2L14
    Human Genome Epidemiology (HuGE) Navigator: BCL2L14 (6 documents)

    Export disorders for BCL2L14 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)
    About This Section

    PubMed articles for BCL2L14 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with BCL2L14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Bcl-G, a novel pro-apoptotic member of the Bcl-2 family. (PubMed id 11054413)1, 2, 3 Guo B.... Reed J.C. (2001)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. Germline variation in apoptosis pathway genes and ris k of non-Hodgkin's lymphoma. (PubMed id 20855536)1, 4 Kelly J.L....Cerhan J.R. (2010)
    4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Involvement of maternal embryonic leucine zipper kinase (MELK) in mammary carcinogenesis through interaction with Bcl-G, a pro-apoptotic member of the Bcl-2 family. (PubMed id 17280616)1, 2 Lin M.L....Katagiri T. (2007)
    7. Mutational and expression analysis of the chromosome 12p candidate tumor suppressor genes in pre-B acute lymphoblastic leukemia. (PubMed id 15284860)1, 2 Montpetit A.... Sinnett D. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Abnormalities of the der(12)t(12;21) in ETV6-RUNX1 acu te lymphoblastic leukemia. (PubMed id 23077088)1 Al-Shehhi H....Moorman A.V. (2013)
    10. Multistage analysis of variants in the inflammation pa thway and lung cancer risk in smokers. (PubMed id 22573796)1 Spitz M.R....Amos C.I. (2012)

    (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)
    About This Section
    Entrez Gene: 79370 HGNC: 16657 AceView: BCL2L14 Ensembl:ENSG00000121380 euGenes: HUgn79370
    ECgene: BCL2L14 H-InvDB: BCL2L14

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BCL2L14 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCL2L14 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BCL2L14 gene:
    Search GeneIP for patents involving BCL2L14

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



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