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NPNT Gene

protein-coding   GIFtS: 54
GCID: GC04P106816

Nephronectin

  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)
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Aliases
nephronectin1 2
POEM2 3 5
Preosteoblast EGF-Like Repeat Protein With MAM Domain2 3
EGFL6L2 3
Protein EGFL6-Like3

External Ids:    HGNC: 274051   Entrez Gene: 2557432   Ensembl: ENSG000001687437   OMIM: 6103065   UniProtKB: Q6UXI93   

Export aliases for NPNT gene to outside databases

Previous GC identifers: GC04P107175 GC04P107036 GC04P102551


(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 NPNT Gene:
NPNT (nephronectin) is a protein-coding gene. Diseases associated with NPNT include acute kidney tubular necrosis, and renal agenesis. GO annotations related to this gene include integrin binding and calcium ion binding. An important paralog of this gene is FBN1.

UniProtKB/Swiss-Prot: NPNT_HUMAN, Q6UXI9
Function: Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF
with integrin alpha-8/beta-1 which is essential for kidney development. May also play a role in the development
and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several
integrins (By similarity)




(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:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NPNT gene promoter:
         STAT1   AP-1   Bach2   ATF-2   STAT1alpha   E47   Evi-1   HEN1   COMP1   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPNT promoter sequence
   Search Chromatin IP Primers for NPNT

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


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

Entrez Gene cytogenetic band: 4q24   Ensembl cytogenetic band:  4q24   HGNC cytogenetic band: 4q25

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P106816:  view genomic region     (about GC identifiers)

Start:
106,815,932 bp from pter      End:
106,925,184 bp from pter
Size:
109,253 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, 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., 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: NPNT_HUMAN, Q6UXI9 (See protein sequence)
Recommended Name: Nephronectin precursor  
Size: 565 amino acids; 61907 Da
Subunit: Homodimer and homotrimer (By similarity)
Developmental stage: Expressed in fetal kidney, cochlea, eye, heart and lung
Secondary accessions: A6NFT9 A8K1W4 B4DIT4 B4DYK3 B4E2H7 B4E3H2 D6RCA1 E9PCK8 E9PCQ1 E9PE64
E9PF04
Alternative splicing: 6 isoforms:  Q6UXI9-1   Q6UXI9-2   Q6UXI9-3   Q6UXI9-4   Q6UXI9-5   Q6UXI9-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NPNT: NX_Q6UXI9

Explore proteomics data for NPNT at MOPED

Post-translational modifications: 

  • Glycosylation2 at Ser264, Thr376
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (5 alternative transcripts): 
    NP_001028219.1  NP_001171619.1  NP_001171620.1  NP_001171621.1  NP_001171622.1  

    ENSEMBL proteins: 
     ENSP00000426951   ENSP00000369323   ENSP00000402884   ENSP00000389252   ENSP00000422044  
     ENSP00000302557   ENSP00000422474   ENSP00000426146   ENSP00000427507   ENSP00000421480  
     ENSP00000426219  

    NPNT Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for NPNT

    NPNT Antibody Products:

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    Novus Biologicals NPNT Antibodies
    Abcam antibodies for NPNT
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    LSBio Antibodies in human, mouse, rat for NPNT

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    Cloud-Clone Corp. CLIAs for NPNT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR001881 EGF-like_Ca-bd_dom
     IPR000998 MAM_dom
     IPR000742 EG-like_dom
     IPR009030 Growth_fac_rcpt_N_dom
     IPR013032 EGF-like_CS

    Graphical View of Domain Structure for InterPro Entry Q6UXI9

    ProtoNet protein and cluster: Q6UXI9

    1 Blocks protein domain: IPB001881 EGF-like calcium-binding

    UniProtKB/Swiss-Prot: NPNT_HUMAN, Q6UXI9
    Domain: The MAM domain is required for localization at the cell surface (By similarity)
    Similarity: Belongs to the nephronectin family
    Similarity: Contains 5 EGF-like domains
    Similarity: Contains 1 MAM domain


    NPNT 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NPNT_HUMAN, Q6UXI9
    Function: Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF
    with integrin alpha-8/beta-1 which is essential for kidney development. May also play a role in the development
    and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several
    integrins (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding NAS11470831
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    NPNT for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NPNT:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Npnt):
     no phenotypic analysis  renal/urinary system 

    NPNT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Npnttm1.1Lfr for NPNT

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPNT
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPNT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPNT
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPNT

    miRNA
    Products:
        
    miRTarBase miRNAs that target NPNT:
    hsa-mir-425-5p (MIRT039335), hsa-mir-378a-3p (MIRT005422), hsa-mir-192-5p (MIRT026404)

    Block miRNA regulation of human, mouse, rat NPNT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NPNT (see all 59):
    hsa-miR-26a-2* hsa-miR-3607-3p hsa-miR-25 hsa-miR-301a hsa-miR-578 hsa-miR-570 hsa-miR-3142 hsa-miR-3150b-3p
    SwitchGear 3'UTR luciferase reporter plasmidNPNT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NPNT
    Predesigned siRNA for gene silencing in human, mouse, rat NPNT

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for NPNT

    Clone
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    OriGene clones in human, mouse for NPNT (see all 25)
    OriGene ORF clones in mouse, rat for NPNT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): NPNT (NM_001033047)
    Sino Biological Human cDNA Clone for NPNT
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPNT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPNT

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NPNT 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPNT


    (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
    NPNT_HUMAN, Q6UXI9: Secreted, extracellular space, extracellular matrix (By similarity). Note=Trapped on the
    cell surface or in the extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    endoplasmic reticulum1
    lysosome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region ISS15754038
    GO:0005578proteinaceous extracellular matrix ISS--
    GO:0005604basement membrane IEA--
    GO:0016020membrane ----
    GO:0030485smooth muscle contractile fiber IEA--

    NPNT for ontologies           About GeneDecksing


    (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 NPNT
    Interactions:

        Search GeneGlobe Interaction Network for NPNT

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for NPNT (Q6UXI93 ENSP000003693234) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGA8P537083, ENSP000003673164I2D: score=2 STRING: ENSP00000367316
    ITGB1ENSP000003640944STRING: ENSP00000364094
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001657ureteric bud development ISS15754038
    GO:0001658branching involved in ureteric bud morphogenesis ISS15754038
    GO:0007160cell-matrix adhesion ISS15754038
    GO:0010694positive regulation of alkaline phosphatase activity IEA--
    GO:0010811positive regulation of cell-substrate adhesion ISS15754038

    NPNT for ontologies           About GeneDecksing



    (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 NPNT



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NPNT gene (6 alternative transcripts): 
    NM_198278.1  NM_001033047.2  NM_001184690.1  NM_001184691.1  NM_001184692.1  NM_001184693.1  

    Unigene Cluster for NPNT:

    Nephronectin
    Hs.518921  [show with all ESTs]
    Unigene Representative Sequence: NM_001184691
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000504304 ENST00000379987(uc011cfc.2 uc011cfd.2 uc011cfe.2 uc003hya.3 uc011cff.2)
    ENST00000453617 ENST00000427316 ENST00000514622 ENST00000305572 ENST00000506666
    ENST00000503451 ENST00000514837 ENST00000513430 ENST00000506056 ENST00000511518
    ENST00000505821 ENST00000514632 ENST00000504787 ENST00000505917
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NPNT using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NPNT (see all 59):
    hsa-miR-26a-2* hsa-miR-3607-3p hsa-miR-25 hsa-miR-301a hsa-miR-578 hsa-miR-570 hsa-miR-3142 hsa-miR-3150b-3p
    SwitchGear 3'UTR luciferase reporter plasmidNPNT 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NPNT
    Predesigned siRNA for gene silencing in human, mouse, rat NPNT
    Clone
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    OriGene clones in human, mouse for NPNT (see all 25)
    OriGene ORF clones in mouse, rat for NPNT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): NPNT (NM_001033047)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPNT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPNT
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NPNT
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPNT
      QuantiTect SYBR Green Assays in human, mouse, rat NPNT
      QuantiFast Probe-based Assays in human, mouse, rat NPNT

    Additional mRNA sequence: 

    AK172856.1 AK290029.1 AK295772.1 AK302477.1 AK304279.1 AK304721.1 AL832465.1 AY358336.1 
    BC131587.1 

    14 DOTS entries:

    DT.121240583  DT.316804  DT.95360310  DT.121240617  DT.91749644  DT.100737977  DT.121240628  DT.121240638 
    DT.40244714  DT.101972739  DT.40222419  DT.75190830  DT.121240623  DT.91881057 

    Selected AceView cDNA sequences (see all 131):

    AI090789 BQ771593 AI802522 BQ017010 AW302459 BQ777622 BU683331 AA977714 
    AI804943 BF221551 N22152 AY358336 AA448654 AI129329 NM_198278 AI417207 
    W79315 BG152866 BQ188133 H88484 AI493079 W79395 W32742 BE046423 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NPNT (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16
    SP1:                                -                 -     -     -                                                                                 
    SP2:                                -     -           -     -     -                                                                                 
    SP3:                                -     -           -     -                                                                                       
    SP4:                                -     -           -                                                                                             
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for NPNT

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


    NPNT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 17) fully expand
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
     
     Gonad
             Primordial Germ Cells Primitive Gonad
             Primordial germ cell-like cells
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             GABAergic Amacrine Cells Inner Nuclear Layer
             Retina
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Vascular endothelial growth factor-induced embryoid bodies
     
     Hair (Integumentary System)    fully expand to see all 2 entries
             Bulge Stem Cells Bulge
    NPNT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPNT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.518921

    UniProtKB/Swiss-Prot: NPNT_HUMAN, Q6UXI9
    Tissue specificity: Expressed in kidney and lung and to a lower extent in brain, pregnant uterus, placenta,
    thyroid gland and blood vessels

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPNT

    (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 animals.

    Orthologs for NPNT gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Npnt1 , 5 nephronectin1, 5 88.14(n)1
    88.67(a)1
      3 (61.52 cM)5
    1142491  NM_001287101.11  NP_001274030.11 
     1328817455 
    chicken
    (Gallus gallus)
    Aves NPNT1 nephronectin 73.66(n)
    71.5(a)
      422535  XM_420498.4  XP_420498.3 
    lizard
    (Anolis carolinensis)
    Reptilia NPNT6
    nephronectin
    63(a)
    1 ↔ 1
    GL343375.1(151932-216414)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia npnt1 nephronectin 66.97(n)
    66.07(a)
      100488614  XM_004911088.1  XP_004911145.1 
    zebrafish
    (Danio rerio)
    Actinopterygii npnt1 nephronectin 60.56(n)
    58.72(a)
      563273  NM_001145580.1  NP_001139052.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mua-36
    Protein MUA-3, isoform a (mua-3) mRNA, complete cd...
    4(a)
    1 → many
    III(10160690-10183531) WBGene00003482


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NPNT gene
    FBN12  EGFL62  VWCE2  NELL22  NELL12  FBN22  FBN32  
    11 SIMAP similar genes for NPNT using alignment to 6 protein entries:     NPNT_HUMAN (see all proteins):
    NRP1    EGFL6    MEGF6    EFEMP2    FBN2    LTBP3
    LTBP2    LTBP1    FBN3    FBLN2    HMCN1

    NPNT 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), 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 NPNT (see all 1532)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1844389441,2
    --106814603(+) TCCACC/TACTCT 5 -- us2k10--------
    rs1902388071,2
    --106814957(+) AAAACA/GACTTA 5 -- us2k10--------
    rs1496342081,2
    --106815035(+) CACACA/GCTGAA 5 -- us2k10--------
    rs576649031,2
    C--106815054(+) AGTGA-/A/GATCAC 5 -- us2k11CSA 2
    rs3722262751,2
    C--106815055(+) AGTGA-/GATCAC 5 -- us2k10--------
    rs354550121,2
    C--106815056(+) GTGAA-/GTCACC 5 -- us2k10--------
    rs594621531,2
    C,F--106815088(+) AAAATT/CTGAAG 5 -- us2k15Minor allele frequency- C:0.15WA CSA NA 243
    rs598442371,2
    C--106815124(+) GGGGG-/GAAAAC 5 -- us2k10--------
    rs1814428461,2
    --106815272(+) AATATC/GCAAGT 5 -- us2k10--------
    rs1135960881,2
    C--106815338(+) AAGGAT/CCATCA 5 -- us2k12Minor allele frequency- C:0.03CSA WA 120

    HapMap Linkage Disequilibrium report for NPNT (106815932 - 106925184 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NPNT:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2418320CNV Deletion18987734

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

    (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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    OMIM gene information: 610306    OMIM disorders: --

    9 diseases for NPNT:    
    About MalaCards
    acute kidney tubular necrosis    renal agenesis    pulmonary function    alcohol dependence
    choroiditis    thyroiditis    melanoma    retinitis
    endotheliitis


    NPNT for disorders           About GeneDecksing

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

    Export disorders for NPNT 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 NPNT gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with NPNT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel human nephronectin gene in silico. (PubMed id 15754038)1, 2, 3, 9 Huang J.T.-J. and Lee V. (Int. J. Mol. Med. 2005)
    2. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (Hum. Mol. Genet. 2010)
    3. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. (PubMed id 20010835)1, 4 Hancock D.B....London S.J. (Nat. Genet. 2010)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    5. MicroRNA miR-378 regulates nephronectin expression modulating osteoblast differentiation by targeting GalNT-7. (PubMed id 19844573)1, 9 Kahai S....Yang B.B. (PLoS ONE 2009)
    6. Proteome analysis of laser microdissected glomeruli from formalin-fixed paraffin-embedded kidneys of autopsies of diabetic patients: nephronectin is associated with the development of diabetic glomerulosclerosis. (PubMed id 22172726)1 Nakatani S....Wanibuchi H. (Nephrol. Dial. Transplant. 2012)
    7. Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. (PubMed id 23284291)1 Hancock D.B....London S.J. (PLoS Genet. 2012)
    8. Nephronectin expression in glomeruli of renal biopsy specimens from various kidney diseases: nephronectin is expressed in the mesangial matrix expansion of diabetic nephropathy. (PubMed id 23689482)1 Nakatani S....Inaba M. (Nephron Clin Pract 2012)
    9. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). (PubMed id 19199708)1 Gonzalez-Begne M....Yates J.R. (J. Proteome Res. 2009)
    10. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
    About This Section

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    Entrez Gene: 255743 HGNC: 27405 AceView: LOC255743 Ensembl:ENSG00000168743 euGenes: HUgn255743
    ECgene: NPNT H-InvDB: NPNT

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for NPNT Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for NPNT gene:
    Search GeneIP for patents involving NPNT

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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