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

BCL2L12 Gene

protein-coding   GIFtS: 54
GCID: GC19P050168

BCL2-Like 12 (Proline Rich)

  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 12 (Proline Rich)1 2
Bcl-2 Related Proline-Rich Protein2
Bcl-2-Like Protein 122
BPR3
Bcl2-L-123
Bcl-2-Related Proline-Rich Protein3

External Ids:    HGNC: 137871   Entrez Gene: 835962   Ensembl: ENSG000001264537   OMIM: 6108375   UniProtKB: Q9HB093   

Export aliases for BCL2L12 gene to outside databases

Previous GC identifers: GC19P050826 GC19P050536 GC19P054844 GC19P054860 GC19P046545


(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 BCL2L12 Gene:
This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein
is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it
binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this
gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, Sep 2013)

GeneCards Summary for BCL2L12 Gene: 
BCL2L12 (BCL2-like 12 (proline rich)) is a protein-coding gene. Diseases associated with BCL2L12 include nasopharyngitis, and non-hodgkin lymphoma.

Gene Wiki entry for BCL2L12 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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BCL2L12 gene promoter:
         STAT1   COUP-TF   p53   p300   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): BCL2L12 promoter sequence
   Search SABiosciences Chromatin IP Primers for BCL2L12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BCL2L12


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

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.33   HGNC cytogenetic band: 19q13.3

BCL2L12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BCL2L12 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P050168:  view genomic region     (about GC identifiers)

Start:
50,168,399 bp from pter      End:
50,177,173 bp from pter
Size:
8,775 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: B2L12_HUMAN, Q9HB09 (See protein sequence)
Recommended Name: Bcl-2-like protein 12  
Size: 334 amino acids; 36821 Da
Secondary accessions: Q3SY11 Q3SY13 Q96I96 Q9HB08
Alternative splicing: 3 isoforms:  Q9HB09-1   Q9HB09-2   Q9HB09-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BCL2L12: NX_Q9HB09

Explore proteomics data for BCL2L12 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HB09

  • BCL2L12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BCL2L12 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001035758.1  NP_001269445.1  NP_001269446.1  NP_001269448.1  NP_001269449.1  NP_001269450.1  NP_619580.1  

    ENSEMBL proteins: 
     ENSP00000393803   ENSP00000246785   ENSP00000469216   ENSP00000471919   ENSP00000470644  
     ENSP00000472214   ENSP00000246784  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9HB09

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

    UniProtKB/Swiss-Prot: B2L12_HUMAN, Q9HB09
    Similarity: Belongs to the Bcl-2 family


    (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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19376117
         
    BCL2L12 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BCL2L12:
     Increased gamma-H2AX phosphory 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bcl2l12):
     cellular  homeostasis/metabolism  immune system 

    BCL2L12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bcl2l12/Irf3Bcl2l12/tm1Ttg for BCL2L12

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    SwitchGear 3'UTR luciferase reporter plasmidBCL2L12 3' UTR sequence
    Inhib. RNA
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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




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BCL2L12

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

    5 Interacting proteins for BCL2L12 (Q9HB093 ENSP000002467854) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCL2L1Q078173, ENSP000003025644I2D: score=2 STRING: ENSP00000302564
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    HSPA4P349323, ENSP000003029614I2D: score=1 STRING: ENSP00000302961
    BCL2ENSP000003296234STRING: ENSP00000329623
    SGTAENSP000002215664STRING: ENSP00000221566
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--

    BCL2L12 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 BCL2L12 (B2L12)

    Search CenterWatch for drugs/clinical trials and news about BCL2L12 / B2L12

    (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 BCL2L12 gene (7 alternative transcripts): 
    NM_001040668.1  NM_001282516.1  NM_001282517.1  NM_001282519.1  NM_001282520.1  NM_001282521.1  NM_138639.1  

    Unigene Cluster for BCL2L12:

    BCL2-like 12 (proline rich)
    Hs.289052  [show with all ESTs]
    Unigene Representative Sequence: NM_138639
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441864(uc002ppb.3) ENST00000246785(uc002ppa.3) ENST00000594157
    ENST00000598979 ENST00000601168 ENST00000600947 ENST00000598306 ENST00000594793
    ENST00000246784
    miRNA
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    hsa-miR-182 hsa-miR-125a-5p hsa-miR-125b hsa-miR-1271 hsa-miR-96 hsa-miR-4319
    SwitchGear 3'UTR luciferase reporter plasmidBCL2L12 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BCL2L12
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    Additional mRNA sequence: 

    BC007724.2 BC104004.1 BC104005.1 BC104006.1 FJ868798.1 FJ868799.1 FJ868800.1 FJ868801.1 
    FJ868802.1 FJ868803.1 FJ911906.1 FJ911907.1 FJ911908.1 HM347053.1 

    14 DOTS entries:

    DT.451839  DT.100845708  DT.97845292  DT.86859692  DT.75136345  DT.102841618  DT.100776091  DT.100845696 
    DT.95171837  DT.100835379  DT.453528  DT.91753634  DT.91753635  DT.91753644 

    24/194 AceView cDNA sequences (see all 194):

    BI114996 AI379761 CA422089 BM478600 CA416214 AI143613 AW452156 AI272766 
    BU624902 BX280351 BU856201 AI498796 AI679907 AA805100 BM849157 NM_138639 
    BF437794 CA418711 AA856716 AA252306 BG389663 BU627606 AA830756 AI457888 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for BCL2L12 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
    SP1:                                                                  
    SP2:                                                                  
    SP3:                                            -                     
    SP4:                    -     -                                       
    SP5:                                      -     -                     


    ECgene alternative splicing isoforms for BCL2L12

    (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

    BCL2L12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCCTGCCCT
    BCL2L12 Expression
    About this image


    See BCL2L12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BCL2L12

    SOURCE GeneReport for Unigene cluster: Hs.289052

    UniProtKB/Swiss-Prot: B2L12_HUMAN, Q9HB09
    Tissue specificity: Expressed mainly in breast, thymus, prostate, fetal liver, colon, placenta, pancreas, small
    intestine, spinal cord, kidney, and bone marrow and to a lesser extent in many other tissues. Isoform 2 is
    primarily expressed in skeletal muscle

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    In Situ
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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 BCL2L12 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 Bcl2l121 , 5 BCL2-like 12 (proline rich)1, 5 80.53(n)1
    84.8(a)1
      7 (29.07 cM)5
    757361  NM_029410.31  NP_083686.11 
     449912225 
    lizard
    (Anolis carolinensis)
    Reptilia BCL2L126
    BCL2-like 12 (proline rich)
    30(a)
    1 ↔ 1
    6(79782525-79794185)
    zebrafish
    (Danio rerio)
    Actinopterygii BCL2L126
    BCL2-like 12 (proline rich)
    23(a)
    1 ↔ 1
    3(32708905-32720350)


    ENSEMBL Gene Tree for BCL2L12 (if available)
    TreeFam Gene Tree for BCL2L12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BCL2L12 gene

    BCL2L12 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for BCL2L12
    PGOHUM00000238190


    (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

    10/128 SNPs in BCL2L12 are shown (see all 128)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0484194
    ----see VAR_0484192 G V mis40--------
    rs1904273171,2
    --50171225(+) AGACAC/TGGGGT 2 -- int10--------
    rs1812479041,2
    C--50171511(+) CCATGC/GCCGGC 2 -- int10--------
    rs1867043661,2
    --50171647(+) CACTGC/TGCCTG 2 -- int10--------
    rs129863011,2
    C,H--50171681(+) CCAGTC/ATGAGG 2 -- int16Minor allele frequency- A:0.00NS EA NA 522
    rs1413612531,2
    C--50171790(+) GCTTGA/GTTGCT 2 -- int10--------
    rs753683651,2
    C,F--50171947(+) GAGGCC/TGAGGC 2 -- int11Minor allele frequency- T:0.50WA 2
    rs1896231861,2
    --50172043(+) GTTGGA/GGGAAG 2 -- int10--------
    rs2018565941,2
    --50172058(+) GAATCC/TGTAAG 2 -- int10--------
    rs1807379841,2
    C--50172059(+) AATCCA/GTAAGT 2 -- int10--------

    HapMap Linkage Disequilibrium report for BCL2L12 (50168399 - 50177173 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for BCL2L12:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv912269CNV Loss21882294
    dgv3972n71CNV Loss21882294
    nsv828578CNV Loss20364138
    nsv833864CNV Gain17160897
    nsv470150CNV Gain18288195
    nsv817854CNV Gain17921354
    nsv9739CNV Gain+Loss18304495
    nsv833865CNV Gain+Loss17160897
    nsv469715CNV Complex16826518

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    (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.)
    About This Section
    OMIM gene information: 610837    OMIM disorders: --

    10 diseases for BCL2L12:    About MalaCards
    nasopharyngitis    non-hodgkin lymphoma    hodgkin's lymphoma    chronic lymphocytic leukemia
    glioblastoma    colon cancer    gastric cancer    breast cancer
    leukemia    prostatitis


    BCL2L12 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for BCL2L12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 24.9 6 12783122 (2), 16895478 (2), 15493871 (1)
    cancer 0 1 15493871 (1)

    Genetic Association Database (GAD): BCL2L12
    Human Genome Epidemiology (HuGE) Navigator: BCL2L12 (5 documents)

    Export disorders for BCL2L12 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 BCL2L12 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with BCL2L12)
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    1. Molecular cloning, physical mapping, and expression analysis of a novel gene, BCL2L12, encoding a proline-rich protein with a highly conserved BH2 domain of the Bcl-2 family. (PubMed id 11401436)1, 2, 9 Scorilas A....Diamandis E.P. (2001)
    2. 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)
    3. 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)
    4. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (2004)
    5. 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)
    6. What drives intense apoptosis resistance and propensity for necrosis in glioblastoma? A role for Bcl2L12 as a multifunctional cell death regulator. (PubMed id 18769159)1, 9 Stegh A.H....DePinho R.A. (2008)
    7. Expression of BCL2L12, a new member of apoptosis-related genes, in breast tumors. (PubMed id 12783122)1, 9 Talieri M....Scorilas A. (2003)
    8. Expression analysis of BCL2L12, a new member of apoptosis-related genes, in colon cancer. (PubMed id 15493871)1, 9 Mathioudaki K....Talieri M. (2004)
    9. Molecular analysis and prognostic impact of the novel apoptotic gene BCL2L12 in gastric cancer. (PubMed id 19903463)1, 9 Florou D....Scorilas A. (2010)
    10. Quantitative expression analysis and prognostic significance of the novel apoptosis-related gene BCL2L12 in colon cancer. (PubMed id 18844453)1, 9 Kontos C.K....Scorilas 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: 83596 HGNC: 13787 AceView: BCL2L12 Ensembl:ENSG00000126453 euGenes: HUgn83596
    ECgene: BCL2L12 H-InvDB: BCL2L12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BCL2L12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BCL2L12 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 BCL2L12 gene:
    Search GeneIP for patents involving BCL2L12

    GeneCards and IP:
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