Property Summary

NCBI Gene PubMed Count 30
Grant Count 16
R01 Count 14
Funding $1,288,795.95
PubMed Score 30.66
PubTator Score 29.42

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytic glioma 1.400 0.028
osteosarcoma 2.213 0.000
ependymoma 1.300 0.000
glioblastoma 1.400 0.000
atypical teratoid/rhabdoid tumor 1.700 0.000
primitive neuroectodermal tumor 1.400 0.000
acute quadriplegic myopathy 1.250 0.000
pediatric high grade glioma 1.300 0.000
pilocytic astrocytoma 1.600 0.000
non primary Sjogren syndrome sicca -1.100 0.026
breast carcinoma -1.100 0.000
Pick disease -2.200 0.000
progressive supranuclear palsy -2.200 0.012
invasive ductal carcinoma -1.300 0.003
ovarian cancer -3.000 0.000

Gene RIF (11)

PMID Text
26184788 NPHP3 mutations were prevalent in Chinese infantile nephronophthisis patients. All patients with NPHP3 mutations showed renal-hepatic phenotype.
24776604 a rare neonatal ciliopathy presentation of NPHP3 mutations leading to severe multiorgan failure in two siblings.
23793029 ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3.
23686967 The known phenotype of NPHP3 mutation caused renal-hepatic-pancreatic dysplasia has been extended to include skeletal and CNS anomalies.
21068128 Observational study of gene-disease association. (HuGE Navigator)
19303681 The presence of congenital malformations in the case series confirms the crucial role of NPHP3 in early embryonic development of the kidneys and urinary tract.
19177160 screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 mutations and determined genotype-phenotype correlations
18854154 Knockdown of nephronophthisis 3 (NPHP3) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
18371931 NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects.
17855640 In six families with nephronophthisis, there were two mutations in either NPHP1, NPHP3, or NPHP4, suggesting oligogenicity.
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AA Sequence

MGTASSLVSPAGGEVIEDTYGAGGGEACEIPVEVKPKARLLRNSFRRGAGAAAGAGPGSLPRGVGAGGLL      1 - 70
GASFKSTGSSVPELEYAAAEYERLRKEYEIFRVSKNQELLSMGRREAKLDTENKRLRAELQALQKTYQKI     71 - 140
LREKESALEAKYQAMERAATFEHDRDKVKRQFKIFRETKENEIQDLLRAKRELESKLQRLQAQGIQVFDP    141 - 210
GESDSDDNCTDVTAAGTQCEYWTGGALGSEPSIGSMIQLQQSFRGPEFAHSSIDVEGPFANVNRDDWDIA    211 - 280
VASLLQVTPLFSHSLWSNTVRCYLIYTDETQPEMDLFLKDYSPKLKRMCETMGYFFHAVYFPIDVENQYL    281 - 350
TVRKWEIEKSSLVILFIHLTLPSLLLEDCEEAFLKNPEGKPRLIFHRLEDGKVSSDSVQQLIDQVSNLNK    351 - 420
TSKAKIIDHSGDPAEGVYKTYICVEKIIKQDILGFENTDLETKDLGSEDSIPEEDDFGDVLWDIHDEQEQ    421 - 490
METFQQASNSAHELGFEKYYQRLNDLVAAPAPIPPLLVSGGPGSGKSLLLSKWIQLQQKNSPNTLILSHF    491 - 560
VGRPMSTSSESSLIIKRLTLKLMQHSWSVSALTLDPAKLLEEFPRWLEKLSARHQGSIIIVIDSIDQVQQ    561 - 630
VEKHMKWLIDPLPVNVRVIVSVNVETCPPAWRLWPTLHLDPLSPKDAKSIIIAECHSVDIKLSKEQEKKL    631 - 700
ERHCRSATTCNALYVTLFGKMIARAGRAGNLDKILHQCFQCQDTLSLYRLVLHSIRESMANDVDKELMKQ    701 - 770
ILCLVNVSHNGVSESELMELYPEMSWTFLTSLIHSLYKMCLLTYGCGLLRFQHLQAWETVRLEYLEGPTV    771 - 840
TSSYRQKLINYFTLQLSQDRVTWRSADELPWLFQQQGSKQKLHDCLLNLFVSQNLYKRGHFAELLSYWQF    841 - 910
VGKDKSAMATEYFDSLKQYEKNCEGEDNMSCLADLYETLGRFLKDLGLLSQAIVPLQRSLEIRETALDPD    911 - 980
HPRVAQSLHQLASVYVQWKKFGNAEQLYKQALEISENAYGADHPYTARELEALATLYQKQNKYEQAEHFR    981 - 1050
KKSFKIHQKAIKKKGNLYGFALLRRRALQLEELTLGKDTPDNARTLNELGVLYYLQNNLETADQFLKRSL   1051 - 1120
EMRERVLGPDHPDCAQSLNNLAALCNEKKQYDKAEELYERALDIRRRALAPDHPSLAYTVKHLAILYKKM   1121 - 1190
GKLDKAVPLYELAVEIRQKSFGPKHPSVATALVNLAVLYSQMKKHVEALPLYERALKIYEDSLGRMHPRV   1191 - 1260
GETLKNLAVLSYEGGDFEKAAELYKRAMEIKEAETSLLGGKAPSRHSSSGDTFSLKTAHSPNVFLQQGQR   1261 - 1330
//

Text Mined References (29)

PMID Year Title
27173435 2016 An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
26184788 2016 High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients.
24776604 2014 NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.
23793029 2013 ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
23686967 2013 Renal-hepatic-pancreatic dysplasia: a sibship with skeletal and central nervous system anomalies and NPHP3 mutation.
23418306 2013 Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
22960633 2012 Structural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119.
22863007 2012 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
22085962 2011 An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium.
21102462 2010 Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
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