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

NPHP3 Gene

protein-coding   GIFtS: 54
GCID: GC03M132277

nephronophthisis 3 (adolescent)
 Explore 23 diseases affiliated with
NPHP3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NPHP3    

Aliases
for NPHP3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Nephronophthisis 3 (Adolescent)1 2     FLJ306911
MKS71 2 5     FLJ366961
NPH31 2 5     Meckel Syndrome, Type 72
KIAA20001 3     Nephrocystin-31
RHPD2 5     

External Ids:    HGNC: 79071   Entrez Gene: 270312   Ensembl: ENSG000001139717   OMIM: 6080025   UniProtKB: Q7Z4943   
ORGUL members:         
NONCODE:n335141 n410565    

Export aliases for NPHP3 gene to outside databases

Previous GC identifers: GC03U990139 GC03M133598 GC03M133599 GC03M133760 GC03M133882 GC03M129779


Summaries
for NPHP3 gene

(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 NPHP3:
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a
tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal
ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with
nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally
occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family,
member 11) gene. (provided by RefSeq, Feb 2011)

UniProtKB/Swiss-Prot: NPHP3_HUMAN, Q7Z494
Function: Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling
activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity.
Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension
cell movements

Gene Wiki entry for NPHP3


Genomic Views
for NPHP3 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NPHP3 gene promoter:
         AREB6   STAT1   POU2F1   FOXJ2 (long isoform)   POU2F1a   STAT1beta   FOXJ2   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NPHP3 promoter sequence
   Search SABiosciences Chromatin IP Primers for NPHP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPHP3


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

Entrez Gene cytogenetic band: 3q22.1   Ensembl cytogenetic band:  3q22.1   HGNC cytogenetic band: 3q22

NPHP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPHP3 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M132277:  view genomic region     (about GC identifiers)

Start:
 132,276,986 bp from pter      End:
 132,441,303 bp from pter
Size:
 164,318 bases      Orientation:
 minus strand
ORGUL member locations:
Legend (see complete legend)

  • n410565
  • n335141
132276981 132359142 132441303 chr3

Proteins
for NPHP3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NPHP3_HUMAN, Q7Z494 (See protein sequence)
Recommended Name: Nephrocystin-3  
Size: 1330 amino acids; 150864 Da
Subunit: Interacts with NPHP1 and INVS/NPHP2. Interacts (when myristoylated) with UNC119 and UNC119B; interaction is
required for localization to cilium. Interacts with CEP164
Subcellular location: Cell projection, cilium. Note=Localization to cilium is mediated via interaction with UNC119 and
UNC119B, which bind to the myristoyl moiety of the N-terminus
Sequence caution: Sequence=BAB70891.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAC02709.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC04268.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q5JPE3 Q5JPE6 Q68D99 Q6NVH3 Q7Z492 Q7Z493 Q8N9R2 Q8NCM5 Q96N70 Q96NK2
Alternative splicing: 7 isoforms:  Q7Z494-1   Q7Z494-2   Q7Z494-3   Q7Z494-4   Q7Z494-5   Q7Z494-6   Q7Z494-7   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NPHP3: NX_Q7Z494

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7Z494

    • NPHP3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_694972.3  
    ENSEMBL proteins: 
     ENSP00000419763   ENSP00000419907   ENSP00000427666   ENSP00000338766   ENSP00000418664  
     ENSP00000319909   ENSP00000344802   ENSP00000372769  

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    Uscn Proteins for NPHP3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium IDA--
    GO:0072372primary cilium IDA--


    NPHP3 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NPHP3

    Protein Domains /
    Families
    for NPHP3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NPHP3 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011990 TPR-like_helical
     IPR013026 TPR-contain_dom
     IPR019734 TPR_repeat

    Graphical View of Domain Structure for InterPro Entry Q7Z494

    ProtoNet protein and cluster: Q7Z494

    UniProtKB/Swiss-Prot: NPHP3_HUMAN, Q7Z494
    Similarity: Contains 11 TPR repeats


    Function
    for NPHP3 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: NPHP3_HUMAN, Q7Z494
    Function: Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling
    activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity.
    Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension
    cell movements

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: NPHP3 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--


    NPHP3 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for NPHP3:
     Decreased cilium length after   Decreased viability of wild-ty 

    Animal Models:
         12 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Nphp3):
     behavior/neurological  cardiovascular system  craniofacial  embryogenesis  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     renal/urinary system  skeleton 

    NPHP3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NPHP3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NPHP3

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

    5 Interacting proteins for NPHP3 (Q7Z4941, 2, 3 ENSP000003387664) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPHP1O152593, ENSP000003131694I2D: score=2 STRING: ENSP00000313169
    CEP164Q9UPV01EBI-2804263,EBI-3937015
    UNC119Q134322MINT-8411894
    UNC119BA6NIH72MINT-8411953
    INVSENSP000002624574STRING: ENSP00000262457
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process IEA--
    GO:0007368determination of left/right symmetry IMP18371931
    GO:0016055Wnt receptor signaling pathway IEA--
    GO:0045494photoreceptor cell maintenance IMP12872122
    GO:0048496maintenance of organ identity IMP12872122


    NPHP3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NPHP3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 NPHP3
    Search CenterWatch for drugs/clinical trials and news about NPHP3 

    Transcripts
    for NPHP3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NPHP3 gene: 
    NM_153240.4  

    Unigene Cluster for NPHP3:

    Nephronophthisis 3 (adolescent)
    Hs.511991  [show with all ESTs]
    Unigene Representative Sequence: NR_037804
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471702(uc003eoz.1 uc003epf.2) ENST00000474871 ENST00000493732
    ENST00000490993 ENST00000465756 ENST00000512094 ENST00000337331 ENST00000515289
    ENST00000469232 ENST00000476742 ENST00000471145 ENST00000326682(uc003epd.2 uc003epe.2)
    ENST00000343113 ENST00000383282

    miRNA
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate NPHP3 (see all 24):
    hsa-let-7d hsa-miR-202 hsa-miR-25 hsa-let-7c hsa-miR-340 hsa-miR-1304 hsa-let-7g hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmid: NPHP3 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK055253.1 AK092910.1 AK094015.1 AY257864.1 BC068082.1 NR_037804.1 

    13 DOTS entries:

    DT.100752365  DT.438581  DT.100027783  DT.70103793  DT.100027784  DT.120924396  DT.91683721  DT.120924324 
    DT.120924382  DT.40196361  DT.100664087  DT.120924344  DT.434373 

    24/249 AceView cDNA sequences (see all 249):

    AI619987 BU618759 AK022654 AK092910 BU738360 BQ425843 NM_153240 AW195199 
    AB082531 BM312074 AI744603 AI278306 AI610439 AK055893 CR611845 BQ012452 
    N52760 AL135542 AA455097 CA311407 AA911079 BU629196 AA894538 CR596046 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for NPHP3 (see all 10)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
    SP1:        -                                                                                         -                                                         
    SP2:                                                                                                                                                            
    SP3:                                                                                            -     -                                                         
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 25a · 25b ^ 26 ^ 27 ^ 28a · 28b · 28c ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b ^ 41 ^ 42a · 42b ^ 43 ^
    SP1:  -                                                                                                                                                         
    SP2:                                                                                                                                                  -     -   
    SP3:  -     -                                                                                                                                                   
    SP4:                                                                                                                                                  -         
    SP5:                                                                                                                                                            

    ExUns: 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for NPHP3

    Expression
    for NPHP3 gene

    (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

    NPHP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATTGATTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See NPHP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NPHP3

    SOURCE GeneReport for Unigene cluster: Hs.511991

    UniProtKB/Swiss-Prot: NPHP3_HUMAN, Q7Z494
    Tissue specificity: Widely expressed at low level. Expressed in heart, placenta, liver, skeletal muscle, kidney and
    pancreas. Expressed at very low level in brain and lung

        SABiosciences Expression via Pathway-Focused PCR Array including NPHP3: 
              Primary Cilia in human mouse rat

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    In Situ
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    Orthologs
    for NPHP3 gene

    (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 eukaryotes.

    Orthologs for NPHP3 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves NPHP31 nephronophthisis 3 (adolescent) 78.04(n)
    85.04(a)    		   420690  XM_418790.2  XP_418790.2 
    lizard
    (Anolis carolinensis)    		 Reptilia NPHP36
    		 --
    		 80(a)
    		 1 ↔ 1
    		 6(38215163-38266274)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.193652 Xenopus laevis transcribed sequences 75.98(n)    BQ385000.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii nphp31 nephronophthisis 3 66.43(n)
    71.38(a)    		   562601  NM_001202441.1  NP_001189370.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G530806
    AT5G375906
    (see all 6)    		 kinesin light chain-related protein
    tetratricopeptide repeat domain-containing protein...
    (see all 6)    		 13(a)
    12(a)
    (see all 6)    		 possible ortholog
    possible ortholog
    (see all 6)    		 5(21520513-21523266)
    5(14927313-14932787)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 4)    		 tetratricopeptide repeat domain containing protein...
    tetratricopeptide repeat domain containing protein...
    (see all 4)    		 9(a)
    12(a)
    (see all 4)    		 possible ortholog
    possible ortholog
    (see all 4)    		 2(29281836-29285765)
    2(534930-538203)


    ENSEMBL Gene Tree for NPHP3 (if available)
    TreeFam Gene Tree for NPHP3 (if available) 

    Paralogs
    for NPHP3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NPHP3 gene
    KLC22  KLC42  ENSG000002565002  KLC32  KLC12  
    5 SIMAP similar genes for NPHP3 using alignment to 5 protein entries:     NPHP3_HUMAN (see all proteins):
    KLC3    KLC1    KLC4    KNS2    KLC2

    NPHP3 for paralogs           About GeneDecksing



    Genomic Variants
    for NPHP3 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/814 NCBI SNPs in NPHP3 are shown (see all 814)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1119576751,2
    		C,F,--129778911(+) TCACCG/ATGTTA 2 -- ds5001 int12Minor allele frequency- A:0.50WA CSA 4
    rs76320961,2
    		C,--129779208(+) TATTAT/CATATA 2 -- ut31 int1 ese32Minor allele frequency- C:0.00NA 4
    rs67743661,2
    		C,F,H,--129779611(+) TGAATC/TGTTCA 2 -- ut31 int1 ese310Minor allele frequency- T:0.09NS EA NA CSA WA 1208
    rs1163388391,2
    		C,F,--129779637(+) TAATCC/TTTGAA 2 -- ut31 int11Minor allele frequency- T:0.03WA 118
    rs792247951,2
    		F,--129779739(+) TCATGG/AAATTC 2 -- ut31 int11Minor allele frequency- A:0.13WA 118
    rs1117712041,2
    		--129779995(+) GTGATC/TCTCCT 2 -- ut31 int11Minor allele frequency- T:0.50CSA 2
    rs7675561,2
    		H--129780115(+) ACAAAG/AACCAA 2 -- ut31 int1 ese35Minor allele frequency- A:0.04MN NS EA 602
    rs1137463551,2
    		F,--129780123(+) CAATCC/TGCTCT 2 -- ut31 int11Minor allele frequency- T:0.50CSA 4
    rs117082001,2
    		C,F,A,H,--129780130(+) CTCTTC/TATGAT 2 -- ut31 int16Minor allele frequency- T:0.03NS EA NA 536
    rs1119951271,2
    		F,--129780288(+) TCACAC/TGTAGT 2 -- ut31 int11Minor allele frequency- T:0.50CSA 4

    HapMap Linkage Disequilibrium report for NPHP3 (132276986 - 132441303 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NPHP3: --
    Human Gene Mutation Database (HGMD): NPHP3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NPHP3
    DNA2.0 Custom Variant and Variant Library Synthesis for NPHP3

    Disorders / Diseases
    for NPHP3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NPHP3 for disorders           About GeneDecksing

    OMIM gene information: 608002   
    OMIM disorders: 604387  208540  267010  
    UniProtKB/Swiss-Prot: NPHP3_HUMAN, Q7Z494
  • Defects in NPHP3 are the cause of nephronophthisis type 3 (NPHP3) [MIM:604387]; also known as adolescent
    • nephronophthisis. NPHP3 is a autosomal recessive disorder resulting in end-stage renal disease. It is characterized by
    polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than
    in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular
    atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the
    corticomedullary junction
  • Defects in NPHP3 are a cause of renal-hepatic-pancreatic dysplasia (RHPD) [MIM:208540]. RHPD is an autosomal
    • recessive disorder with variable expression, and patients surviving the neonatal period progress to renal and hepatic
    failure which can be treated successfully with combined liver-kidney transplantation
  • Defects in NPHP3 are the cause of Meckel syndrome type 7 (MKS7) [MIM:267010]. It is a form of Meckel syndrome,
    • an autosomal recessive disorder. It is characterized by a combination of renal cysts and variably associated features
    including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia
    and cysts, and polydactyly

    20/23 diseases for NPHP3 (see all 23):    About MalaCards
    renal-hepatic-pancreatic dysplasia    meckel syndrome    nephronophthisis    nephronophthisis 3
    acyl-coa dehydrogenase    senior-loken syndrome    meckel syndrome 7    leber congenital amaurosis
    hepatitis    pancreatitis    situs inversus    encephalocele
    encephaloceles    polycystic kidney disease    kidney disease    cystic kidney
    nephronopthisis    retinitis pigmentosa    apraxia    retinal degeneration

    3 diseases from the University of Copenhagen DISEASES database for NPHP3:
    Nephronophthisis     Cystic kidney     Situs inversus

    4 Novoseek disease relationships for NPHP3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nphp2 98.6 17 19177160 (4), 17855640 (2), 14750102 (2), 18076122 (1) (see all 7)
    nphp1 96.5 12 18076122 (3), 17855640 (2), 14750102 (2), 11274269 (1) (see all 8)
    cystic kidney disease 87.8 1 19303681 (1)
    polycystic kidney diseases 65.2 1 15381417 (1)

    Genetic Association Database (GAD): NPHP3
    Human Genome Epidemiology (HuGE) Navigator: NPHP3 (2 documents)

    Export disorders for NPHP3 gene to outside databases

    Publications
    for NPHP3 gene

    (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 NPHP3 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with NPHP3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. (PubMed id 12872122)1, 2, 3, 4, 9 Olbrich H.... Omran H. (2003)
    2. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic- pancreatic dysplasia. (PubMed id 18371931)1, 2, 9 Bergmann C.... Omran H. (2008)
    3. STAND, a class of P-loop NTPases including animal and plant regulators of programmed cell death: multiple, complex domain architectures, unusual phyletic patterns, and evolution by horizontal gene transfer. (PubMed id 15381417)1, 3, 9 Leipe D.D....Aravind L. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PubMed id 12056414)1, 2 Ohara O.... Koseki H. (2002)
    7. Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. (PubMed id 19177160)1, 9 Tory K....Salomon R. (2009)
    8. Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. (PubMed id 19303681)1, 9 Simpson M.A....Crosby A.H. (2009)
    9. Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. (PubMed id 11134256)1, 9 Omran H....Hildebrandt F. (2001)
    10. Evidence of oligogenic inheritance in nephronophthisis. (PubMed id 17855640)1, 9 Hoefele J....Hildebrandt F. (2007)

    External Searches for NPHP3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NPHP3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 27031 HGNC: 7907 AceView: FLJ12592andNPHP3 Ensembl:ENSG00000113971 euGenes: HUgn27031
    ECgene: NPHP3 H-InvDB: NPHP3

    Other Databases showing NPHP3 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA2000

    Specialized Databases showing NPHP3 gene

    (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 NPHP3 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for NPHP3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NPHP3 gene:
    Search GeneIP for patents involving NPHP3

    GeneCards and IP:
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