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N4BP2L2 Gene

protein-coding   GIFtS: 50
GCID: GC13M033007

NEDD4 Binding Protein 2-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
NEDD4 Binding Protein 2-Like 21 2     92M18.3 (Novel Protein)2
Phosphonoformate Immuno-Associated Protein 51 2 3     CG0162
CG0052 3     NEDD4-Binding Protein 2-Like 22
PFAAP52 3     Protein From BCRA2 Region2
92M18.32     

External Ids:    HGNC: 269161   Entrez Gene: 104432   Ensembl: ENSG000002447547   UniProtKB: Q928023   

Export aliases for N4BP2L2 gene to outside databases

Previous GC identifers: GC13M031891 GC13M013818


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for N4BP2L2 Gene:
N4BP2L2 (NEDD4 binding protein 2-like 2) is a protein-coding 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_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the N4BP2L2 gene promoter:
         oct-B2   oct-B3   POU2F1   FOXO4   HTF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidN4BP2L2 promoter sequence
   Search Chromatin IP Primers for N4BP2L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat N4BP2L2


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

Entrez Gene cytogenetic band: 13q13.1   Ensembl cytogenetic band:  13q13.1   HGNC cytogenetic band: 13q13.1

N4BP2L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
N4BP2L2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M033007:  view genomic region     (about GC identifiers)

Start:
33,006,554 bp from pter      End:
33,112,970 bp from pter
Size:
106,417 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: N42L2_HUMAN, Q92802 (See protein sequence)
Recommended Name: NEDD4-binding protein 2-like 2  
Size: 583 amino acids; 67459 Da
Sequence caution: Sequence=AAI31632.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the N-terminal part; Sequence=BP361938; Type=Frameshift; Positions=Several;
Secondary accessions: A3KME8
Alternative splicing: 3 isoforms:  Q92802-1   Q92802-2   Q92802-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for N4BP2L2: NX_Q92802

Explore proteomics data for N4BP2L2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys9
  • Modification sites at PhosphoSitePlus (FLJ43077)

  • See N4BP2L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001265361.1  NP_055702.1  NP_149102.3  

    ENSEMBL proteins: 
     ENSP00000427477   ENSP00000394239   ENSP00000423362   ENSP00000267068   ENSP00000382328  
     ENSP00000350104  

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    Cloud-Clone Corp. Proteins for N4BP2L2

     
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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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    2 InterPro protein domains:
     IPR026568 NEDD4-bind_pro_2-like_2
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q92802

    ProtoNet protein and cluster: Q92802


    Find genes that share domains with N4BP2L2           About GenesLikeMe


    (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, 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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         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001106RNA polymerase II transcription corepressor activity ISS--
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI19506020
    GO:0005524ATP binding ----
    GO:0016301kinase activity ----
         
    Find genes that share ontologies with N4BP2L2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for N4BP2L2:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for N4BP2L2
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    miRNA
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    miRTarBase miRNAs that target N4BP2L2:
    hsa-mir-484 (MIRT042159), hsa-mir-455-3p (MIRT037873)

    Block miRNA regulation of human, mouse, rat N4BP2L2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate N4BP2L2 (see all 19):
    hsa-miR-4291 hsa-miR-448 hsa-miR-7-1* hsa-miR-548x hsa-miR-3674 hsa-miR-1827 hsa-miR-3155b hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidN4BP2L2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum2
    nucleus2
    cytosol1
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ----
    GO:0005737cytoplasm IDA--
    GO:0017053transcriptional repressor complex IDA19506020
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with N4BP2L2           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for N4BP2L2
    Interactions:

        Search GeneGlobe Interaction Network for N4BP2L2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    5 Interacting proteins for N4BP2L2 (Q928021, 3 ENSP000003823284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRPF4O431723I2D: score=2 
    ELANEP082463I2D: score=1 
    GFI1Q996843I2D: score=1 
    Hoxa1P090221EBI-2514973,EBI-3957603
    --ensp: ENSP000002670684STRING: ensp: ENSP00000267068
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0008150biological_process ----
    GO:1902035positive regulation of hematopoietic stem cell proliferation IMP19506020
    GO:1902037negative regulation of hematopoietic stem cell differentiation IMP19506020

    Find genes that share ontologies with N4BP2L2           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 N4BP2L2 (N42L2)



    (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 N4BP2L2 gene (3 alternative transcripts): 
    NM_001278432.1  NM_014887.2  NM_033111.4  

    Unigene Cluster for N4BP2L2:

    NEDD4 binding protein 2-like 2
    Hs.507680  [show with all ESTs]
    Unigene Representative Sequence: NM_014887
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380121(uc001uug.2 uc010abd.1 uc001uuh.2) ENST00000503296
    ENST00000504114 ENST00000509076 ENST00000446957 ENST00000505213 ENST00000473025
    ENST00000503814 ENST00000267068(uc001uuk.4) ENST00000511143 ENST00000475731
    ENST00000512755 ENST00000483088 ENST00000399396(uc001uuj.2 uc010abe.1)
    ENST00000357505(uc010tdz.1)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate N4BP2L2 (see all 19):
    hsa-miR-4291 hsa-miR-448 hsa-miR-7-1* hsa-miR-548x hsa-miR-3674 hsa-miR-1827 hsa-miR-3155b hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidN4BP2L2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF530063.1 AK093514.1 AK123084.1 AK298546.1 AK310280.1 AK312924.1 AL049783.1 AL049802.1 
    BC010643.1 BC131631.1 BT007172.1 U50529.1 U50532.1 U50535.1 Z36834.1 

    Selected DOTS entries (see all 42):

    DT.317482  DT.91754565  DT.412749  DT.92454943  DT.100797278  DT.120793871  DT.100797279  DT.100797284 
    DT.100777575  DT.95325227  DT.109140  DT.92454928  DT.100797290  DT.100797280  DT.120793931  DT.95368042 
    DT.92454938  DT.100797275  DT.97847541  DT.120793822  DT.100655678  DT.91745197  DT.100797285  DT.92003267 

    Selected AceView cDNA sequences (see all 449):

    AW269562 AI299025 BX484756 AU117279 CA397640 AA478507 AA825349 NM_052818 
    CB240991 AI434835 AA935680 AA622648 BM667255 AW299970 BF969011 AA488718 
    CB961582 AL049788 BF198020 BE645120 CD722084 AW009076 AK093514 BU674950 

    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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    N4BP2L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTGTCTCG
    N4BP2L2 Expression
    About this image


    N4BP2L2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Pancreas (Endocrine System)
    N4BP2L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    N4BP2L2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.507680
        Custom PCR Arrays for N4BP2L2
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    In Situ
    Assay Products:
     

     
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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 N4BP2L2 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia N4bp2l21 , 5 NEDD4 binding protein 2-like 21, 5 80.06(n)1
    66.09(a)1
      5 (89.57 cM)5
    3816951  NM_201369.31  NP_958757.21 
     1506080075 
    chicken
    (Gallus gallus)
    Aves N4BP2L21 NEDD4 binding protein 2-like 2 61.22(n)
    46.22(a)
      418912  NM_001012828.2  NP_001012846.2 
    lizard
    (Anolis carolinensis)
    Reptilia N4BP2L26
    NEDD4 binding protein 2-like 2
    68(a)
    1 ↔ 1
    3(183689772-183692823)


    ENSEMBL Gene Tree for N4BP2L2 (if available)
    TreeFam Gene Tree for N4BP2L2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for N4BP2L2 gene
    3 SIMAP similar genes for N4BP2L2 using alignment to 3 protein entries:     N42L2_HUMAN (see all proteins):
    92M18.3    N4BP2L1    92M18.2

    Find genes that share paralogs with N4BP2L2           About GenesLikeMe



    (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 N4BP2L2 (see all 1818)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2013599901,2
    --33006523(+) AAGGG-/GG    
       AAGGA
    GGAAG
    1 -- ds50010--------
    rs1480477141,2
    --33006529(+) GAAGGA/GGGAAG 1 -- ds50010--------
    rs1171390501,2
    F--33006688(+) ATATTG/TGTGTA 1 -- ds50011Minor allele frequency- T:0.05EA 120
    rs1417396101,2
    --33006782(+) AGACCA/GATACT 1 -- ds50010--------
    rs791681931,2
    C,F--33006841(+) GTACTC/GAAGTT 1 -- ds50011Minor allele frequency- G:0.04WA 118
    rs768004081,2
    C,F--33006963(+) ACTTAG/TCAAGA 1 -- ut310--------
    rs1813870491,2
    --33007201(+) TTATGC/TCACTC 1 -- int10--------
    rs1848503361,2
    --33007476(+) CAAAGA/GCAATG 1 -- int10--------
    rs1894119431,2
    --33007550(+) ATCACC/TTGAGG 1 -- int10--------
    rs73302351,2
    C,F--33007595(+) aaaccC/Tcgtct 1 -- int11Minor allele frequency- T:0.03NA 120

    HapMap Linkage Disequilibrium report for N4BP2L2 (33006554 - 33112970 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for N4BP2L2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2747243CNV Deletion23290073
    nsv899969CNV Gain21882294
    nsv832576CNV Gain17160897

    Human Gene Mutation Database (HGMD): N4BP2L2
    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for N4BP2L2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with N4BP2L2           About GenesLikeMe

    Genetic Association Database (GAD): N4BP2L2

    Export disorders for N4BP2L2 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 N4BP2L2 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with N4BP2L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13. (PubMed id 8812419)1, 2, 3 Couch F.J.... Simard J. (Genomics 1996)
    2. Large-scale genotyping identifies 41 new loci associated with breast cancer risk. (PubMed id 23535729)1 Michailidou K....Easton D.F. (Nat. Genet. 2013)
    3. Protein interactions of the transcription factor Hoxa1. (PubMed id 23088713)1 Lambert B....Rezsohazy R. (BMC Dev. Biol. 2012)
    4. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    5. Contributions to neutropenia from PFAAP5 (N4BP2L2), a novel protein mediating transcriptional repressor cooperation between Gfi1 and neutrophil elastase. (PubMed id 19506020)1 Salipante S.J....Horwitz M.S. (Mol. Cell. Biol. 2009)
    6. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 2009)
    7. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
    8. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)4 Hwang S.J....Fox C.S. (BMC Med. Genet. 2007)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)2 Kimura K.... Sugano S. (Genome Res. 2006)
    10. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (Nature 2004)

    (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: 10443 HGNC: 26916 AceView: PFAAP5 Ensembl:ENSG00000244754 euGenes: HUgn10443
    ECgene: N4BP2L2 H-InvDB: N4BP2L2

    (According to HUGE)
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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 N4BP2L2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for N4BP2L2 gene:
    Search GeneIP for patents involving N4BP2L2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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