Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

NPHP4 Gene

protein-coding   GIFtS: 56
GCID: GC01M005922

Nephronophthisis 4

  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
Nephronophthisis 41 2     POC102
nephrocystin-41 2     POC10 Centriolar Protein Homolog2
nephroretinin1 2     KIAA06733
SLSN42 5     Nephroretinin3
POC10 Centriolar Protein Homolog (Chlamydomonas)1     

External Ids:    HGNC: 191041   Entrez Gene: 2617342   Ensembl: ENSG000001316977   OMIM: 6072155   UniProtKB: O751613   

Export aliases for NPHP4 gene to outside databases

Previous GC identifers: GC01U990494 GC01M005731 GC01M005519 GC01M005632 GC01M005858 GC01M005071


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

Entrez Gene summary for NPHP4 Gene:
This gene encodes a protein involved in renal tubular development and function. This protein interacts with
nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based
structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with
Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. (provided by RefSeq,
Feb 2010)

GeneCards Summary for NPHP4 Gene: 
NPHP4 (nephronophthisis 4) is a protein-coding gene. Diseases associated with NPHP4 include nephronophthisis 4, and senior-loken syndrome 4, and among its related super-pathways are Signaling by GPCR. GO annotations related to this gene include protein binding and structural molecule activity.

UniProtKB/Swiss-Prot: NPHP4_HUMAN, O75161
Function: Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8
(By similarity). Does not seem to be strictly required for ciliogenesis (By similarity)

Gene Wiki entry for NPHP4 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_021937.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NPHP4 gene promoter:
         Max1   AP-1   NRSF form 1   NRSF form 2   HEN1   Cart-1   TGIF   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPHP4 promoter sequence
   Search SABiosciences Chromatin IP Primers for NPHP4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPHP4


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

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.31   HGNC cytogenetic band: 1p36

NPHP4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPHP4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M005922:  view genomic region     (about GC identifiers)

Start:
5,922,870 bp from pter      End:
6,052,533 bp from pter
Size:
129,664 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: NPHP4_HUMAN, O75161 (See protein sequence)
Recommended Name: Nephrocystin-4  
Size: 1426 amino acids; 157598 Da
Subunit: Interacts with NPHP1 and RPGRIP1L/NPHP8, and can bridge the interaction between those two proteins.
Interacts with IQCB1; the interaction likely requires additional interactors. Interacts with RPGRIP1. Weakly
interacts with CEP164
Subcellular location: Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing
center, centrosome. Cell junction, tight junction. Note=In cultured renal cells, it localizes diffusely in the
cytoplasm but, as cells approach confluence, it accumulates to basolateral tight junctions

Explore the universe of human proteins at neXtProt for NPHP4: NX_O75161

Explore proteomics data for NPHP4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75161

  • NPHP4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NPHP4 Protein Expression
    REFSEQ proteins: NP_055917.1  
    ENSEMBL proteins: 
     ENSP00000423747   ENSP00000367398   ENSP00000367411   ENSP00000425745  
    Reactome Protein details: O75161
    Human Recombinant Protein Products for NPHP4: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for NPHP4
    GenScript Custom Purified and Recombinant Proteins Services for NPHP4
    Novus Biologicals NPHP4 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NPHP4 

    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:0005813centrosome IDA--
    GO:0005829cytosol TAS--
    GO:0005911cell-cell junction IDA--
    GO:0005923tight junction IEA--
    GO:0005929cilium IEA--

    NPHP4 for ontologies           About GeneDecksing



    NPHP4 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for NPHP4
    GenScript Custom Superior Antibodies Services for NPHP4
    Novus Biologicals NPHP4 Antibodies
    Abcam antibodies for NPHP4
    Cloud-Clone Corp. Antibodies for NPHP4 
    Search ThermoFisher Antibodies for NPHP4
    LSBio Antibodies in human, mouse, rat for NPHP4 

    Assay Products for NPHP4: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NPHP4
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NPHP4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NPHP4 
    Cloud-Clone Corp. CLIAs for NPHP4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: O75161

    UniProtKB/Swiss-Prot: NPHP4_HUMAN, O75161
    Similarity: Belongs to the NPHP4 family


    (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: NPHP4_HUMAN, O75161
    Function: Involved in the organization of apical junctions in kidney cells together with NPHP1 and RPGRIP1L/NPHP8
    (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS12006559
    GO:0005515protein binding IPI12244321
         
    NPHP4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NPHP4:
     Decreased Wnt reporter activit 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nphp4):
     cardiovascular system  cellular  nervous system  pigmentation  renal/urinary system 
     reproductive system  vision/eye 

    NPHP4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NPHP4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NPHP4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPHP4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPHP4 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPHP4
    1 QIAGEN miScript miRNA Assays for microRNA that regulate NPHP4:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidNPHP4 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NPHP4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NPHP4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NPHP4
    Sirion Biotech Customized adenovirus for overexpression of NPHP4

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for NPHP4 (see all 5)
    OriGene ORF clones in mouse, rat for NPHP4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPHP4 (NM_015102)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPHP4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPHP4
    Sirion Biotech Customized lentivirus for stable overexpression of NPHP4 
                         Customized lentivirus expression plasmids for stable overexpression of NPHP4 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NPHP4
    Search LifeMap BioReagents cell lines for NPHP4
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPHP4


    (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

    SuperPaths for NPHP4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signal Transduction0.55
    2Signaling by Hippo
    Signaling by Hippo

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for NPHP4
        Signaling by Hippo
    Signal Transduction



    NPHP4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NPHP4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    5/9 Interacting proteins for NPHP4 (O751613 ENSP000003673984) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPHP1O152593, ENSP000003131694I2D: score=2 STRING: ENSP00000313169
    RPGRIP1Q96KN73, ENSP000003828954I2D: score=1 STRING: ENSP00000382895
    LATS1ENSP000002533394STRING: ENSP00000253339
    LATS2ENSP000003720354STRING: ENSP00000372035
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction NAS12244321
    GO:0007632visual behavior NAS12205563
    GO:0016337cell-cell adhesion NAS12006559
    GO:0030036actin cytoskeleton organization NAS12006559
    GO:0035329hippo signaling cascade TAS--

    NPHP4 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 NPHP4

    Search CenterWatch for drugs/clinical trials and news about NPHP4

    (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 NPHP4 gene: 
    NM_015102.3  

    Unigene Cluster for NPHP4:

    Nephronophthisis 4
    Hs.462348  [show with all ESTs]
    Unigene Representative Sequence: NM_015102
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460696 ENST00000378161(uc001alr.1) ENST00000478423 ENST00000489180(uc001alq.2 uc001als.2 uc009vlt.2)
    ENST00000378156(uc001alt.2) ENST00000378169 ENST00000468253 ENST00000506941
    ENST00000470763 ENST00000466897(uc009vlu.2)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPHP4
    1 QIAGEN miScript miRNA Assays for microRNA that regulate NPHP4:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidNPHP4 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NPHP4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NPHP4
    Clone
    Products:
         
    OriGene clones in human, mouse for NPHP4 (see all 5)
    OriGene ORF clones in mouse, rat for NPHP4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPHP4 (NM_015102)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPHP4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPHP4
    Sirion Biotech Customized lentivirus for stable overexpression of NPHP4 
                         Customized lentivirus expression plasmids for stable overexpression of NPHP4 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NPHP4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NPHP4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NPHP4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NPHP4

    Additional mRNA sequence: 

    AB014573.1 AF537130.1 AK124074.1 AK314326.1 AL117405.1 AY118228.1 

    13 DOTS entries:

    DT.75101759  DT.95241364  DT.97841747  DT.95370268  DT.100778179  DT.95076155  DT.101982051  DT.92419507 
    DT.121349976  DT.40246923  DT.101969066  DT.452418  DT.95261886 

    24/100 AceView cDNA sequences (see all 100):

    AW136203 BM741440 NM_015102 BM770843 BM756830 Z38915 AW338245 BX642079 
    BU621804 BM742505 BC050076 BM744331 CB145636 BM766759 BC040520 BM803649 
    AY118228 BE350004 AF537130 BU629376 BQ223937 BC015402 CB152147 BM717147 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NPHP4    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
    SP1:              -                                             
    SP2:              -                                             
    SP3:                                                            


    ECgene alternative splicing isoforms for NPHP4

    (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

    NPHP4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NPHP4 Expression
    About this image


    See NPHP4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NPHP4

    SOURCE GeneReport for Unigene cluster: Hs.462348

    UniProtKB/Swiss-Prot: NPHP4_HUMAN, O75161
    Tissue specificity: Expressed in kidney, skeletal muscle, heart and liver, and to a lesser extent in brain and
    lung

        SABiosciences Custom PCR Arrays for NPHP4
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NPHP4
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NPHP4
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NPHP4
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NPHP4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPHP4

    (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 NPHP4 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nphp41 , 5 nephronophthisis 4 (juvenile) homolog (human)1, 5 80.07(n)1
    78.73(a)1
      4 (83.14 cM)5
    2603051  NM_153424.21  NP_700473.21 
     1524767065 
    chicken
    (Gallus gallus)
    Aves NPHP41 nephronophthisis 4 63.89(n)
    55.78(a)
      419377  XM_003642520.1  XP_003642568.1 
    lizard
    (Anolis carolinensis)
    Reptilia NPHP46
    nephronophthisis 4
    58(a)
    1 ↔ 1
    GL343537.1(413294-458521)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.155202 Transcribed sequence with weak similarity to protein more 72.28(n)    AL918964.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nphp-41 Protein NPHP-4 37.95(n)
    26.42(a)
      179620  NM_073581.2  NP_505982.2 


    ENSEMBL Gene Tree for NPHP4 (if available)
    TreeFam Gene Tree for NPHP4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NPHP4 gene
    1 SIMAP similar gene for NPHP4 using alignment to 4 protein entries:     NPHP4_HUMAN (see all proteins):
    DKFZp434K1235

    NPHP4 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

    10/3354 SNPs in NPHP4 are shown (see all 3354)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0225344
    Nephronophthisis 4 (NPHP4)4--see VAR_0225342 A G mis40--------
    VAR_0225284
    Senior-Loken syndrome 4 (SLSN4)4--see VAR_0225282 F L mis40--------
    VAR_0225474
    Nephronophthisis 4 (NPHP4)4--see VAR_0225472 R C mis40--------
    VAR_0225484
    Nephronophthisis 4 (NPHP4)4--see VAR_0225482 Q E mis40--------
    VAR_0225404
    Nephronophthisis 4 (NPHP4)4--see VAR_0225402 H Q mis40--------
    VAR_0152144
    Nephronophthisis 4 (NPHP4)4--see VAR_0152142 G R mis40--------
    VAR_0225304
    Nephronophthisis 4 (NPHP4)4--see VAR_0225302 R W mis40--------
    VAR_0225424
    Senior-Loken syndrome 4 (SLSN4)4--see VAR_0225422 T A mis40--------
    VAR_0225384
    Nephronophthisis 4 (NPHP4)4--see VAR_0225382 Q R mis40--------
    rs1446244771,2,4
    CSenior-Loken syndrome 4 (SLSN4)4 --5942677(+) GCCACA/GTCTGT 2 T M mis10--------

    HapMap Linkage Disequilibrium report for NPHP4 (5922870 - 6052533 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for NPHP4 (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2737806CNV Deletion23290073
    esv2737917CNV Deletion23290073
    esv2737584CNV Deletion23290073
    esv2737695CNV Deletion23290073
    esv267940CNV Insertion20981092
    esv274438CNV Insertion20981092
    nsv508723CNV Insertion20534489
    nsv506919CNV Insertion20534489
    nsv871389CNV Loss21882294
    nsv871294CNV Loss21882294


    Human Gene Mutation Database (HGMD): NPHP4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NPHP4
    DNA2.0 Custom Variant and Variant Library Synthesis for NPHP4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607215   
    OMIM disorders: 606966  606996  
    UniProtKB/Swiss-Prot: NPHP4_HUMAN, O75161
  • Nephronophthisis 4 (NPHP4) [MIM:606966]: An autosomal recessive inherited disease resulting in end-stage
    renal disease at age ranging between 6 and 35 years. It is a progressive tubulo-interstitial kidney disorder
    characterized by polydipsia, polyuria, anemia and growth retardation. The most prominent histological features
    are modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the
    advanced stages, medullary cysts. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies.
    Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities,
    fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral
    nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert
    syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others.
    Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders,
    leading to the suggestion that variations across multiple sites of the ciliary proteome, including NPHP4,
    influence the clinical outcome
  • Senior-Loken syndrome 4 (SLSN4) [MIM:606996]: A renal-retinal disorder characterized by progressive
    wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease,
    and progressive eye disease. Typically this disorder becomes apparent during the first year of life. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/27 diseases for NPHP4 (see all 27):    About MalaCards
    nephronophthisis 4    senior-loken syndrome 4    cogan's syndrome    nephronophthisis
    senior-loken syndrome    familial juvenile hyperuricemic nephropathy    cystic kidney    dextrocardia
    asphyxiating thoracic dystrophy    focal segmental glomerulosclerosis    joubert syndrome    bardet-biedl syndrome
    retinitis pigmentosa    end stage renal failure    apraxia    situs inversus
    cone-rod dystrophy    leber congenital amaurosis    open-angle glaucoma    primary open angle glaucoma

    5 diseases from the University of Copenhagen DISEASES database for NPHP4:
    Nephronophthisis     Cystic kidney     End stage renal failure     Retinitis pigmentosa
    Familial juvenile hyperuricemic nephropathy

    NPHP4 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for NPHP4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nphp1 97.9 15 18076122 (3), 17855640 (2), 14750102 (2), 18316409 (1) (see all 11)
    nphp2 97.7 4 17855640 (1), 18076122 (1), 12205563 (1), 14750102 (1)
    cystic kidney disease 90.2 1 20150540 (1)
    cogans syndrome 76.9 1 15776426 (1)
    retinitis pigmentosa 74.9 1 12205563 (1)
    renal fibrosis 69.5 1 15661758 (1)
    renal disease 58.3 3 18687878 (2), 15661758 (1)
    cysts 34.5 1 15661758 (1)

    Genetic Association Database (GAD): NPHP4
    Human Genome Epidemiology (HuGE) Navigator: NPHP4 (4 documents)

    Export disorders for NPHP4 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 NPHP4 gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with NPHP4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis. (PubMed id 15776426)1, 2, 4, 9 Hoefele J....Hildebrandt F. (2005)
    2. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. (PubMed id 12205563)1, 2, 3, 9 Otto E.... Hildebrandt F. (2002)
    3. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. (PubMed id 12244321)1, 2, 9 Mollet G....Saunier S. (2002)
    4. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. (PubMed id 22863007)1, 2 Chaki M....Hildebrandt F. (2012)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Common variants at ten loci influence QT interval duration in the QTGEN Study. (PubMed id 19305408)1, 4 Newton-Cheh C....Stricker B.H. (2009)
    7. Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36. (PubMed id 11920287)1, 3 Schuermann M.J....Hildebrandt F. (2002)
    8. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2 Ishikawa K.... Ohara O. (1998)
    9. Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. (PubMed id 15661758)1, 9 Mollet G....Saunier S. (2005)
    10. Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis. (PubMed id 17954299)1, 9 Mistry K....Pollak M.R. (2007)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 261734 HGNC: 19104 AceView: NPHP4 Ensembl:ENSG00000131697 euGenes: HUgn261734
    ECgene: NPHP4 H-InvDB: NPHP4

    (According to HUGE)
    About This Section
    HUGE: KIAA0673

    (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 NPHP4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NPHP4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NPHP4 gene:
    Search GeneIP for patents involving NPHP4

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for NPHP4  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for NPHP4  
     OriGene qSTAR qPCR primer pairs in human, mouse for NPHP4   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for NPHP4   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NPHP4   OriGene Custom Protein Services for NPHP4  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NPHP4
     QIAGEN SeqTarget long-range PCR primers for resequencing NPHP4
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPHP4
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NPHP4
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NPHP4
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NPHP4
     GenScript Custom Purified and Recombinant Proteins Services for NPHP4 GenScript cDNA clones with any tag delivered in your preferred vector for NPHP4
     GenScript Custom Assay Services for NPHP4 GenScript Custom Superior Antibodies Services for NPHP4
     GenScript Custom overexpressing Cell Line Services for NPHP4 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in NPHP4 promoter
     Search Chromatin IP Primers for NPHP4
     RT2 qPCR Primer Assay in human, mouse, rat NPHP4
     GNC Network for NPHP4
     SABiosciences Custom PCR Arrays for NPHP4
     Search Tocris compounds for NPHP4
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     NPHP4 antibodies
     NPHP4 proteins
     Antibodies for NPHP4
     See all of Abcam's Antibodies, Kits and Proteins for NPHP4
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for NPHP4
     Antibodies for NPHP4
     ELISAs for NPHP4
     CLIAs for NPHP4
     Search LifeMap BioReagents cell lines for NPHP4
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPHP4
     SwitchGear 3'UTR luciferase reporter plasmids for NPHP4
     SwitchGear Promoter luciferase reporter plasmids for NPHP4
     Search ThermoFisher Antibodies for NPHP4
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPHP4
     inGenious Targeting Laboratory - Custom generated mouse model solutions for NPHP4
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NPHP4
    Customized:
     lentivirus for stable overexpression of NPHP4
     lentivirus expression plasmids for stable overexpression of NPHP4
     adenovirus for overexpression of NPHP4
     LSBio Antibodies in human, mouse, rat for NPHP4
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NPHP4 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4