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BNIP3L Gene

protein-coding   GIFtS: 64
GCID: GC08P026240

BCL2/Adenovirus E1B 19kDa Interacting Protein 3-Like

(Previous name: BCL2/adenovirus E1B 19kD-interacting protein 3-like)
  See BNIP3L-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
BCL2/Adenovirus E1B 19kDa Interacting Protein 3-Like1 2     BCL2/Adenovirus E1B 19kD-Interacting Protein 3-Like1
NIX2 3 5     BNIP3a2
Adenovirus E1B19K-Binding Protein B52 3     BCL2/Adenovirus E1B 19 KDa Protein-Interacting Protein 3-Like2
NIP3L2 3     BCL2/Adenovirus E1B 19-Kd Protein-Interacting Protein 3a2
BCL2/Adenovirus E1B 19 KDa Protein-Interacting Protein 3A2 3     BNIP3A3
NIP3-Like Protein X2 3     BNIP3H3

External Ids:    HGNC: 10851   Entrez Gene: 6652   Ensembl: ENSG000001047657   OMIM: 6053685   UniProtKB: O602383   

Export aliases for BNIP3L gene to outside databases

Previous GC identifers: GC08P026013 GC08P026594 GC08P026262 GC08P026296 GC08P024785


(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 BNIP3L Gene:
This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the
E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with
E1B 19 kDa-like sequences of BCL2, another apoptotic protector. This protein counteracts the apoptotic inducer
BNIP3 and may play a role in tumor suppression. (provided by RefSeq, Mar 2011)

GeneCards Summary for BNIP3L Gene:
BNIP3L (BCL2/adenovirus E1B 19kDa interacting protein 3-like) is a protein-coding gene. Diseases associated with BNIP3L include visual epilepsy. GO annotations related to this gene include protein heterodimerization activity and protein homodimerization activity. An important paralog of this gene is BNIP3.

UniProtKB/Swiss-Prot: BNI3L_HUMAN, O60238
Function: Induces apoptosis. Interacts with viral and cellular anti-apoptosis proteins. Can overcome the
suppressors BCL-2 and BCL-XL, although high levels of BCL-XL expression will inhibit apoptosis. Inhibits
apoptosis induced by BNIP3. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in
response to mitochondrial damage, participates to mitochondrial protein catabolic process (also named MALM)
leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP,
BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial
double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the
mitochondrial matrix. May function as a tumor suppressor

Gene Wiki entry for BNIP3L 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 at NCBI GenBank:
NC_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BNIP3L gene promoter:
         PPAR-gamma1   Sp1   AP-1   ATF-2   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): BNIP3L promoter sequence
   Search Chromatin IP Primers for BNIP3L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BNIP3L


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

Entrez Gene cytogenetic band: 8p21   Ensembl cytogenetic band:  8p21.2   HGNC cytogenetic band: 8p21

BNIP3L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BNIP3L gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P026240:  view genomic region     (about GC identifiers)

Start:
26,240,414 bp from pter      End:
26,363,152 bp from pter
Size:
122,739 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BNI3L_HUMAN, O60238 (See protein sequence)
Recommended Name: BCL2/adenovirus E1B 19 kDa protein-interacting protein 3-like  
Size: 219 amino acids; 23930 Da
Subunit: Self-associates. Interacts with BNIP3 and STEAP3. Interacts with human adenovirus-2 E1B 19 kDa protein.
Interacts (via BH3 domain) with SPATA18 (via coiled-coil domains)
Sequence caution: Sequence=CAI46217.1; Type=Erroneous termination; Positions=122; Note=Translated as Glu;
Secondary accessions: Q5JW63 Q8NF87

Explore the universe of human proteins at neXtProt for BNIP3L: NX_O60238

Explore proteomics data for BNIP3L at MOPED

Post-translational modifications: 

  • Undergoes progressive proteolysis to an 11 kDa C-terminal fragment, which is blocked by the proteasome inhibitor
    lactacystin1
  • Ubiquitination2 at Lys154, Lys177
  • Modification sites at PhosphoSitePlus

  • See BNIP3L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004322.1  
    ENSEMBL proteins: 
     ENSP00000370003   ENSP00000428919   ENSP00000429171   ENSP00000429698   ENSP00000428597  
     ENSP00000429851  

    BNIP3L Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for BNIP3L

     
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    antibodies-online proteins for BNIP3L (2 products) 

     
    antibodies-online peptides for BNIP3L

    BNIP3L Antibody Products:

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    BNIP3L Assay Products:

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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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    1 InterPro protein domain:
     IPR010548 BNIP3

    Graphical View of Domain Structure for InterPro Entry O60238

    ProtoNet protein and cluster: O60238

    1 Blocks protein domain: IPB010548 BNIP3

    UniProtKB/Swiss-Prot: BNI3L_HUMAN, O60238
    Similarity: Belongs to the NIP3 family


    Find genes that share domains with BNIP3L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BNI3L_HUMAN, O60238
    Function: Induces apoptosis. Interacts with viral and cellular anti-apoptosis proteins. Can overcome the
    suppressors BCL-2 and BCL-XL, although high levels of BCL-XL expression will inhibit apoptosis. Inhibits
    apoptosis induced by BNIP3. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in
    response to mitochondrial damage, participates to mitochondrial protein catabolic process (also named MALM)
    leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP,
    BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial
    double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the
    mitochondrial matrix. May function as a tumor suppressor

         Genatlas biochemistry entry for BNIP3L:
    BCL2/adenovirus E1B,interacting 3-like,proapoptotic,inhibiting growth of cancer cells,widely expressed (see TSG8A)
    and expressed in target of the mitochondria,when inducing apoptosis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10381623
    GO:0005521lamin binding IPI10381623
    GO:0042802identical protein binding IPI10381623
    GO:0042803protein homodimerization activity IDA10381623
    GO:0046982protein heterodimerization activity IDA10381623
         
    Find genes that share ontologies with BNIP3L           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BNIP3L:
     Enable proliferation in B-Raf  

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Bnip3l):
     cardiovascular system  cellular  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  mortality/aging  muscle 

    Find genes that share phenotypes with BNIP3L           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for BNIP3L: Bnip3ltm1Ney Bnip3ltm1.1Gwd

       genOway: Develop your customized and physiologically relevant rodent model for BNIP3L

    miRNA
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    miRTarBase miRNAs that target BNIP3L:
    hsa-let-7b-5p (MIRT052099), hsa-mir-221-3p (MIRT003359), hsa-let-7a-5p (MIRT052472)

    Block miRNA regulation of human, mouse, rat BNIP3L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BNIP3L (see all 48):
    hsa-miR-302d hsa-miR-520e hsa-miR-4328 hsa-miR-3664-5p hsa-miR-106a hsa-miR-513a-5p hsa-miR-1258 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidBNIP3L 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for BNIP3L
    Predesigned siRNA for gene silencing in human, mouse, rat BNIP3L

    Gene Editing
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BNIP3L
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    Addgene plasmids for BNIP3L 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BNIP3L


    (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
    BNI3L_HUMAN, O60238: Nucleus envelope. Endoplasmic reticulum. Mitochondrion outer membrane. Membrane; Single-pass
    membrane protein (Potential). Note=Colocalizes with SPATA18 at the mitochondrion outer membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion5
    nucleus5
    cytosol3
    extracellular1
    peroxisome1
    plasma membrane1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope IDA10381623
    GO:0005739mitochondrion IDA10381623
    GO:0005740mitochondrial envelope ----
    GO:0005741mitochondrial outer membrane IMP--
    GO:0005783endoplasmic reticulum IDA10381623

    Find genes that share ontologies with BNIP3L           About GenesLikeMe


    (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 BNIP3L About    
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis (WikiPathways)
    Apoptosis0.38
    2Selected targets of p53
    Selected targets of p53
    3Direct p53 effectors
    Direct p53 effectors
    4Apoptosis and Autophagy
    Apoptosis and Autophagy


    Find genes that share SuperPaths with BNIP3L           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for BNIP3L
        Apoptosis and Autophagy

    2 BioSystems Pathways for BNIP3L
        Apoptosis
    Direct p53 effectors



        Pathway & Disease-focused RT2 Profiler PCR Arrays including BNIP3L: 
              Hypoxia Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Necrosis in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BNIP3L

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

    Selected Interacting proteins for BNIP3L (O602381, 2, 3 ENSP000003700034) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DOK5Q9P1042, 3, ENSP000002625934MINT-66031 I2D: score=5 STRING: ENSP00000262593
    BCL2P104151, 3, ENSP000003296234EBI-849893,EBI-77694 I2D: score=4 STRING: ENSP00000329623
    RINT1Q6NUQ12, 3, ENSP000002577004MINT-64660 I2D: score=4 STRING: ENSP00000257700
    GBP2P324562, 3, ENSP000003594974MINT-8249608 I2D: score=2 STRING: ENSP00000359497
    BADQ929341, 3, ENSP000003091034EBI-849893,EBI-700771 I2D: score=1 STRING: ENSP00000309103
    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:0016032viral process IEA--
    GO:0019048modulation by virus of host morphology or physiology ----
    GO:0035694mitochondrial protein catabolic process IMP--
    GO:0043065positive regulation of apoptotic process IDA9973195

    Find genes that share ontologies with BNIP3L           About GenesLikeMe



    (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 BNIP3L (BNI3L)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BNIP3L gene: 
    NM_004331.2  

    Unigene Cluster for BNIP3L:

    BCL2/adenovirus E1B 19kDa interacting protein 3-like
    Hs.131226  [show with all ESTs]
    Unigene Representative Sequence: AF370457
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380629(uc003xex.1 uc010luh.1 uc010lui.1 uc003xey.2)
    ENST00000520077 ENST00000523949 ENST00000523515 ENST00000520409 ENST00000518611
    ENST00000521254
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate BNIP3L (see all 48):
    hsa-miR-302d hsa-miR-520e hsa-miR-4328 hsa-miR-3664-5p hsa-miR-106a hsa-miR-513a-5p hsa-miR-1258 hsa-miR-30d
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    Addgene plasmids for BNIP3L 
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      QuantiTect SYBR Green Assays in human, mouse, rat BNIP3L
      QuantiFast Probe-based Assays in human, mouse, rat BNIP3L

    Additional mRNA sequence: 

    AB004788.1 AF060922.1 AF067396.1 AF079221.1 AF370457.1 AF452712.2 AF536326.1 AK290213.1 
    AK300286.1 AK300727.1 AK307195.1 AK315870.1 AK316315.1 AL132665.1 BC001559.1 BC009603.1 
    BT019500.1 BT019501.1 CR456701.1 

    Selected DOTS entries (see all 28):

    DT.100875672  DT.101968353  DT.75101763  DT.100678973  DT.100810182  DT.446546  DT.99944390  DT.97807005 
    DT.121481886  DT.121482091  DT.101971536  DT.121482024  DT.95167586  DT.99977619  DT.121481889  DT.95193355 
    DT.115466  DT.95238563  DT.100678969  DT.100696071  DT.121481951  DT.65284807  DT.92016057  DT.100744572 

    Selected AceView cDNA sequences (see all 770):

    BX507095 AF370457 AI032998 BM970165 BX954403 W24294 BM876339 CA445077 
    BM714815 BU071150 AA342187 AA364945 AI223849 AA211217 F07700 BU664569 
    N88204 AA479305 CA425049 BU730190 AA865929 CR624662 N46987 BQ575517 

    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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    BNIP3L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATAACTTGT
    BNIP3L Expression
    About this image


    BNIP3L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Kidney (Urinary System)
             Metanephros
     
     Lung (Respiratory System)
             Trachea
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    BNIP3L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BNIP3L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.131226
        Pathway & Disease-focused RT2 Profiler PCR Arrays including BNIP3L: 
              Hypoxia Signaling Pathway in human mouse rat
              Apoptosis 384HT in human mouse rat
              Apoptosis in human mouse rat
              Necrosis in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for BNIP3L
    OriGene qSTAR qPCR primer pairs in human, mouse for BNIP3L
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BNIP3L
    QuantiTect SYBR Green Assays in human, mouse, rat BNIP3L
    QuantiFast Probe-based Assays in human, mouse, rat BNIP3L
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BNIP3L

    (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 BNIP3L gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bnip3l1 , 5 BCL2/adenovirus E1B interacting protein 3-like1, 5 91.09(n)1
    97.7(a)1
      14 (34.60 cM)5
    121771  NM_009761.31  NP_033891.11 
     669852395 
    chicken
    (Gallus gallus)
    Aves BNIP3L1 BCL2/adenovirus E1B 19kDa interacting protein 3-like 81.48(n)
    86.24(a)
      419522  NM_001030885.1  NP_001026056.1 
    lizard
    (Anolis carolinensis)
    Reptilia BNIP3L6
    BCL2/adenovirus E1B 19kDa interacting protein 3-li...
    76(a)
    1 ↔ 1
    GL343445.1(594722-606298)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.197702 Xenopus laevis transcribed sequence with moderate similarity more 79.06(n)    BU915724.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb52b032 Transcribed sequence with moderate similarity to protein more 77.5(n)    57045247 


    ENSEMBL Gene Tree for BNIP3L (if available)
    TreeFam Gene Tree for BNIP3L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BNIP3L gene
    BNIP32  
    1 SIMAP similar gene for BNIP3L using alignment to 5 protein entries:     BNI3L_HUMAN (see all proteins):
    BNIP3

    Find genes that share paralogs with BNIP3L           About GenesLikeMe


    5 Pseudogenes.org Pseudogenes for BNIP3L
    PGOHUM00000258718 PGOHUM00000234547 PGOHUM00000259668 PGOHUM00000259765 PGOHUM00000240656


    (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 BNIP3L (see all 561)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1173576931,2
    C,F--26238537(+) GTCACG/AATATA 1 -- us2k11Minor allele frequency- A:0.01EA 120
    rs1866635321,2
    --26238643(+) TCAGCA/CAGATC 1 -- us2k10--------
    rs1911098561,2
    --26238689(+) CAATAA/CAGTAT 1 -- us2k10--------
    rs1422373741,2
    --26238702(+) TTACAA/GGACAG 1 -- us2k10--------
    rs38144841,2
    C,F,H--26238949(+) ACTCCT/CAGATG 1 -- us2k121Minor allele frequency- C:0.11NA NS EA CSA WA 2473
    rs1461792981,2
    --26238962(+) GGGTGA/GTGGGT 1 -- us2k10--------
    rs1809635561,2
    --26239006(+) TTGCTA/GGGCAG 1 -- us2k10--------
    rs1495743891,2
    C--26239144(+) TGACCA/GGAAAC 1 -- us2k10--------
    rs624909681,2
    C,F--26239247(+) TTAGCA/GTGGAC 1 -- us2k12Minor allele frequency- G:0.04NA 122
    rs1849645651,2
    --26239250(+) GCATGC/GACTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BNIP3L (26240414 - 26363152 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BNIP3L:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831273CNV Loss17160897
    nsv824580CNV Gain20364138

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BNIP3L
    DNA2.0 Custom Variant and Variant Library Synthesis for BNIP3L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605368    OMIM disorders: --

    1 disease for BNIP3L:    
    About MalaCards
    visual epilepsy

    1 disease from the University of Copenhagen DISEASES database for BNIP3L:
    Visual epilepsy

    Find genes that share disorders with BNIP3L           About GenesLikeMe

    3 Novoseek inferred disease relationships for BNIP3L gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 27.9 6 17805942 (2), 10467396 (1), 19229244 (1), 16219518 (1) (see all 5)
    tumors 18.3 14 19273585 (1), 14720367 (1), 17331233 (1), 19229244 (1) (see all 7)
    cancer lung 4.53 14 14720367 (11)

    Genetic Association Database (GAD): BNIP3L
    Human Genome Epidemiology (HuGE) Navigator: BNIP3L (2 documents)

    Export disorders for BNIP3L 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 BNIP3L gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with BNIP3L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation, mapping, and functional analysis of a novel human cDNA (BNIP3L) encoding a protein homologous to human NIP3. (PubMed id 9523198)1, 2, 3, 9 Matsushima M.... Nakamura Y. (Genes Chromosomes Cancer 1998)
    2. Nix and Nip3 form a subfamily of pro-apoptotic mitochondrial proteins. (PubMed id 9867803)1, 2, 9 Chen G.... Greenberg A. (J. Biol. Chem. 1999)
    3. The proapoptotic factor Nix is coexpressed with Bcl-xL during terminal erythroid differentiation. (PubMed id 12663450)1, 2, 9 Aerbajinai W.... Miller J.L. (Blood 2003)
    4. Mieap, a p53-inducible protein, controls mitochondrial quality by repairing or eliminating unhealthy mitochondria. (PubMed id 21264228)1, 2 Kitamura N.... Arakawa H. (PLoS ONE 2011)
    5. 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)
    6. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    7. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    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. (Genome Res. 2004)
    9. The p53-inducible TSAP6 gene product regulates apoptosis and the cell cycle and interacts with Nix and the Myt1 kinase. (PubMed id 12606722)1, 2 Passer B.J....Telerman A. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    10. BNIP3alpha: a human homolog of mitochondrial proapoptotic protein BNIP3. (PubMed id 9973195)1, 3 Yasuda M....Chinnadurai G. (Cancer Res. 1999)

    (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: 665 HGNC: 1085 AceView: BNIP3L Ensembl:ENSG00000104765 euGenes: HUgn665
    ECgene: BNIP3L H-InvDB: BNIP3L

    (According to HUGE)
    About This Section

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      --

    (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 BNIP3L Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BNIP3L 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 BNIP3L gene:
    Search GeneIP for patents involving BNIP3L

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



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