Property Summary

NCBI Gene PubMed Count 42
PubMed Score 25.98
PubTator Score 27.57

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma 1.200 4.7e-06
psoriasis 1.300 7.2e-04
osteosarcoma 1.090 2.1e-04
lung cancer 1.300 1.1e-03
group 3 medulloblastoma 1.400 5.1e-05

 MGI Phenotype (1)

Gene RIF (18)

PMID Text
23574405 homozygous NPHP4 truncating mutation that expands the phenotypic spectrum of NPHP4-related nephronophthisis to also include cerebello-oculo-renal syndrome and abnormal spermatogenesis causing male infertility
22654112 The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate beta-catenin signaling.
22550138 NPHP4 mutations are associated with cardiac laterality defects and heterotaxy.
21555462 Identify NPHP4 as a negative regulator of the Hippo pathway and suggest that NPHP4 regulates cell proliferation through its effects on Hippo signaling.
21068128 Observational study of gene-disease association. (HuGE Navigator)
20844548 These results indicate the novel and independent association between single-point SNP rs1287637 in NPHP4 gene and renal function in non-diabetic Japanese population.
20844548 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
17954299 Two novel homozygous missense sequence variants in exons 18 and 21 were detected in a consanguineous family with nephronophthisis
17855640 In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity.
17672918 the apparent occurrence of an unusual TG 3' splice site in intron 20 is discussed
16339905 retinitis pigmentosa GTPase regulator interacting protein 1 and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina
15776426 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
15776426 two recessive mutations in NPHP4 are a rare cause of nephronophthisis, and single heterozygous NPHP4 sequence variants are three times more prevalent than two recessive mutations
15661758 part of multifunctional complex localized in actin- and microtubule-based structures
12244321 Interacts with NPHP1 protein, suggesting that these two proteins participate in a common signaling pathway; identification of five different mutations in unrelated individuals with nephronophthisis
12205563 Encodes a novel protein, nephroretinin, that is conserved in evolution--for example, in the nematode Caenorhabditis elegans.
12205563 Recessive mutations in the NPHP4 gene, encoding the protein nephroretinin, in humans cause nephronophthisis type 4 and Senior-Loken syndrome.There is evolutionary conservation of the NPHP4 gene, with an ortholog in C. elegans.

AA Sequence

MNDWHRIFTQNVLVPPHPQRARQPWKESTAFQCVLKWLDGPVIRQGVLEVLSEVECHLRVSFFDVTYRHF      1 - 70
FGRTWKTTVKPTKRPPSRIVFNEPLYFHTSLNHPHIVAVVEVVAEGKKRDGSLQTLSCGFGILRIFSNQP     71 - 140
DSPISASQDKRLRLYHGTPRALLHPLLQDPAEQNRHMTLIENCSLQYTLKPHPALEPAFHLLPENLLVSG    141 - 210
LQQIPGLLPAHGESGDALRKPRLQKPITGHLDDLFFTLYPSLEKFEEELLELHVQDHFQEGCGPLDGGAL    211 - 280
EILERRLRVGVHNGLGFVQRPQVVVLVPEMDVALTRSASFSRKVVSSSKTSSGSQALVLRSRLRLPEMVG    281 - 350
HPAFAVIFQLEYVFSSPAGVDGNAASVTSLSNLACMHMVRWAVWNPLLEADSGRVTLPLQGGIQPNPSHC    351 - 420
LVYKVPSASMSSEEVKQVESGTLRFQFSLGSEEHLDAPTEPVSGPKVERRPSRKPPTSPSSPPAPVPRVL    421 - 490
AAPQNSPVGPGLSISQLAASPRSPTQHCLARPTSQLPHGSQASPAQAQEFPLEAGISHLEADLSQTSLVL    491 - 560
ETSIAEQLQELPFTPLHAPIVVGTQTRSSAGQPSRASMVLLQSSGFPEILDANKQPAEAVSATEPVTFNP    561 - 630
QKEESDCLQSNEMVLQFLAFSRVAQDCRGTSWPKTVYFTFQFYRFPPATTPRLQLVQLDEAGQPSSGALT    631 - 700
HILVPVSRDGTFDAGSPGFQLRYMVGPGFLKPGERRCFARYLAVQTLQIDVWDGDSLLLIGSAAVQMKHL    701 - 770
LRQGRPAVQASHELEVVATEYEQDNMVVSGDMLGFGRVKPIGVHSVVKGRLHLTLANVGHPCEQKVRGCS    771 - 840
TLPPSRSRVISNDGASRFSGGSLLTTGSSRRKHVVQAQKLADVDSELAAMLLTHARQGKGPQDVSRESDA    841 - 910
TRRRKLERMRSVRLQEAGGDLGRRGTSVLAQQSVRTQHLRDLQVIAAYRERTKAESIASLLSLAITTEHT    911 - 980
LHATLGVAEFFEFVLKNPHNTQHTVTVEIDNPELSVIVDSQEWRDFKGAAGLHTPVEEDMFHLRGSLAPQ    981 - 1050
LYLRPHETAHVPFKFQSFSAGQLAMVQASPGLSNEKGMDAVSPWKSSAVPTKHAKVLFRASGGKPIAVLC   1051 - 1120
LTVELQPHVVDQVFRFYHPELSFLKKAIRLPPWHTFPGAPVGMLGEDPPVHVRCSDPNVICETQNVGPGE   1121 - 1190
PRDIFLKVASGPSPEIKDFFVIIYSDRWLATPTQTWQVYLHSLQRVDVSCVAGQLTRLSLVLRGTQTVRK   1191 - 1260
VRAFTSHPQELKTDPKGVFVLPPRGVQDLHVGVRPLRAGSRFVHLNLVDVDCHQLVASWLVCLCCRQPLI   1261 - 1330
SKAFEIMLAAGEGKGVNKRITYTNPYPSRRTFHLHSDHPELLRFREDSFQVGGGETYTIGLQFAPSQRVG   1331 - 1400
EEEILIYINDHEDKNEEAFCVKVIYQ                                               1401 - 1426
//

Text Mined References (46)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26644512 2015 The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells.
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
23574405 2014 NPHP4 mutation is linked to cerebello-oculo-renal syndrome and male infertility.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23006423 2012 Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.
22863007 2012 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
22654112 2012 The ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate ?-catenin signaling.
22550138 2012 NPHP4 variants are associated with pleiotropic heart malformations.
21565611 2011 Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
21555462 2011 NPHP4, a cilia-associated protein, negatively regulates the Hippo pathway.
21546380 2011 Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.
21498478 2011 Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros.
21422230 2011 MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
21399614 2011 Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods.
21357692 2011 Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.
21258341 2011 TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
21224891 2011 Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
20844548 2010 The novel and independent association between single-point SNP of NPHP4 gene and renal function in non-diabetic Japanese population: the Takahata study.
20664800 2010 Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19755384 2009 Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6.
19305408 2009 Common variants at ten loci influence QT interval duration in the QTGEN Study.
19260139 2009 Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
19118152 2009 Nephronophthisis: disease mechanisms of a ciliopathy.
18076122 2008 Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
17954299 2007 Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis.
17855640 2007 Evidence of oligogenic inheritance in nephronophthisis.
17672918 2007 Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.
17558407 2007 Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16339905 2005 Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.
16131712 2005 Effect of splice-site polymorphisms of the TMPRSS4, NPHP4 and ORCTL4 genes on their mRNA expression.
15776426 2005 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
15661758 2005 Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14750102 2004 Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12244321 2002 The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
12205563 2002 A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
12006559 2002 Nephrocystin-conserved domains involved in targeting to epithelial cell-cell junctions, interaction with filamins, and establishing cell polarity.
11920287 2002 Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36.
9734811 1998 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.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.