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

N4BP2L2 Gene

protein-coding   GIFtS: 46
GCID: GC13M033007

NEDD4 Binding Protein 2-Like 2

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

GeneCards Summary for N4BP2L2 Gene: 
N4BP2L2 (NEDD4 binding protein 2-like 2) is a protein-coding gene. Diseases associated with N4BP2L2 include severe congenital neutropenia, and neutropenia. GO annotations related to this gene include protein binding and molecular_function.


(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_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for N4BP2L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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:

  • View modification sites using PhosphoSitePlus (PFAAP5)
  • View neXtProt modification sites for NX_Q92802

  • N4BP2L2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    N4BP2L2 Protein Expression
    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 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    N4BP2L2 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
    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


    N4BP2L2 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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding ----
    GO:0016301kinase activity ----
         
    N4BP2L2 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for N4BP2L2 
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    SwitchGear 3'UTR luciferase reporter plasmidN4BP2L2 3' UTR sequence
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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 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): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    N4BP2L2 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 N4BP2L2 (N42L2)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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)
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    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
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    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 

    24/42 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 

    24/449 AceView cDNA sequences (see all 449):

    BX484756 CA443002 F08013 AA825349 AA622648 BM979738 CR601845 AF530063 
    BM887924 BM667701 AL049787 BX089992 AI338989 AI634600 BQ721125 AU117279 
    CA396259 F04257 NM_052818 BF448152 AW182217 BM996077 BX381793 W15582 

    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™, 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

    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


    See N4BP2L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for N4BP2L2

    SOURCE GeneReport for Unigene cluster: Hs.507680
        SABiosciences Custom PCR Arrays for N4BP2L2
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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 N4BP2L2 gene from 3/8 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 61.64(n)
    46.67(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)
    About This Section
    Paralogs for N4BP2L2 gene
    3 SIMAP similar genes for N4BP2L2 using alignment to 3 protein entries:     N42L2_HUMAN (see all proteins):
    92M18.3    92M18.2    N4BP2L1

    N4BP2L2 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

    10/1818 SNPs in N4BP2L2 are shown (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

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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
    4 diseases for N4BP2L2:    About MalaCards
    severe congenital neutropenia    neutropenia    pancreatic cancer    pancreatitis


    N4BP2L2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for N4BP2L2 gene, integrated from 9 sources (see all 15):
    (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. (1996)
    2. Large-scale genotyping identifies 41 new loci associat ed with breast cancer risk. (PubMed id 23535729)1 Michailidou K....Easton D.F. (2013)
    3. Protein interactions of the transcription factor Hoxa1 . (PubMed id 23088713)1 Lambert B....Rezsohazy R. (2012)
    4. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (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. (2009)
    6. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    7. 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. (2007)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)2 Kimura K.... Sugano S. (2006)
    9. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)2 Dunham A.... Ross M.T. (2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (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)
    About This Section
    Entrez Gene: 10443 HGNC: 26916 AceView: PFAAP5 Ensembl:ENSG00000244754 euGenes: HUgn10443
    ECgene: N4BP2L2 H-InvDB: N4BP2L2

    (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 N4BP2L2 Pharmacogenomics, SNPs, Pathways

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

    GeneCards and IP:
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