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

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)
About This Section

Aliases
nephronectin1 2
Preosteoblast EGF-Like Repeat Protein With MAM Domain2 3
EGFL6L2 3
POEM2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 EGFL6.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NPNT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: NPNT_HUMAN, Q6UXI9 (See protein sequence)
Recommended Name: Nephronectin precursor  
Size: 565 amino acids; 61907 Da
Subunit: Homodimer and homotrimer (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity). Note=Trapped on the
cell surface or in the extracellular matrix (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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6UXI9

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

    NPNT Protein Expression
    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  

    Human Recombinant Protein Products for NPNT: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NPNT 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    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



    NPNT Antibody Products: 
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    Novus Biologicals NPNT Antibodies
    Abcam antibodies for NPNT
    Cloud-Clone Corp. Antibodies for NPNT 
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    LSBio Antibodies in human, mouse, rat for NPNT 

    Assay Products 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)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS
     IPR001881 EGF-like_Ca-bd
     IPR000998 MAM_dom

    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,
    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

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for NPNT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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-378 (MIRT005422)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPNT
    8/59 QIAGEN miScript miRNA 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:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NPNT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NPNT

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of NPNT

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    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
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                         Customized lentivirus expression plasmids for stable overexpression of NPNT 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPNT


    (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 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): 5/16 biological process terms (GO ID links to tree view) (see all 16):    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 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 NPNT

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 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:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPNT
    8/59 QIAGEN miScript miRNA 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:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NPNT
    QIAGEN FlexiTube/FlexiPlate 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
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of NPNT 
                         Customized lentivirus expression plasmids for stable overexpression of NPNT 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NPNT
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NPNT
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NPNT
      QIAGEN 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 

    24/131 AceView cDNA sequences (see all 131):

    N22152 H88484 BF221551 AI493079 BQ771593 NM_198278 BE170237 W79395 
    W79315 BQ017010 AA234382 AA977714 AW304247 AA633471 AI129329 BU683331 
    AW302459 BG152866 W32742 AY358336 AA448654 AI802522 BM998584 AI417207 

    GeneLoc Exon Structure

    5/9 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™, 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

    NPNT expression in normal human tissues (normalized intensities)      NPNT embryonic expression: see
    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 
     5/18 selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Medulla Oblongata
             brain/midbrain/lateral wall   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             sensory organ/nose/nasal septum   
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Embryoid bodies ( Two-step protocol for endothelial differentiation by embryoid...
             aorta   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             skeleton/cranium/viscerocranium   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Spinal Ventral Columns
             brain/midbrain/lateral wall   

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

    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

        SABiosciences Custom PCR Arrays for NPNT
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NPNT
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NPNT gene from 5/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Npnt1 , 5 nephronectin1, 5 87.98(n)1
    88.91(a)1
      3 (61.52 cM)5
    1142491  NM_033525.21  NP_277060.21 
     1328817455 
    chicken
    (Gallus gallus)
    Aves NPNT1 nephronectin 74.18(n)
    71.85(a)
      422535  XM_420498.3  XP_420498.3 
    lizard
    (Anolis carolinensis)
    Reptilia NPNT6
    nephronectin
    63(a)
    1 ↔ 1
    GL343375.1(151932-216414)
    zebrafish
    (Danio rerio)
    Actinopterygii npnt1 nephronectin 60.95(n)
    60.42(a)
      563273  NM_001145580.1  NP_001139052.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta slow6
    slowdown
    7(a)
    1 → many
    3L(4384442-4403181)


    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)
    About This Section
    Paralogs for NPNT gene
    EGFL62  VWCE2  
    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) 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

    10/1532 SNPs in NPNT are shown (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

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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
    OMIM gene information: 610306    OMIM disorders: --

    6 diseases for NPNT:    About MalaCards
    acute kidney tubular necrosis    renal agenesis    alcohol dependence    alcoholism
    thyroiditis    melanoma


    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)
    About This Section

    PubMed articles for NPNT gene, integrated from 9 sources (see all 17):
    (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. (2005)
    2. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (2010)
    3. Meta-analyses of genome-wide association studies iden tify multiple loci associated with pulmonary function. (PubMed id 20010835)1, 4 Hancock D.B....London S.J. (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. (2003)
    5. MicroRNA miR-378 regulates nephronectin expression mo dulating osteoblast differentiation by targeting GalNT-7. (PubMed id 19844573)1, 9 Kahai S....Yang B.B. (2009)
    6. Proteome analysis of laser microdissected glomeruli fr om formalin-fixed paraffin-embedded kidneys of autopsies of diabetic patients: n ephronectin is associated with the development of diabetic glomerulosclerosis. (PubMed id 22172726)1 Nakatani S....Wanibuchi H. (2012)
    7. Genome-wide joint meta-analysis of SNP and SNP-by-smok ing interaction identifies novel loci for pulmonary function. (PubMed id 23284291)1 Hancock D.B....London S.J. (2012)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 255743 HGNC: 27405 AceView: LOC255743 Ensembl:ENSG00000168743 euGenes: HUgn255743
    ECgene: NPNT H-InvDB: NPNT

    (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 NPNT 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 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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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