Property Summary

NCBI Gene PubMed Count 29
Grant Count 134
R01 Count 34
Funding $18,886,093
PubMed Score 122.58
PubTator Score 287.88

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.600 0.000
medulloblastoma, large-cell 1.400 0.000

Synonym

Accession Q9Y283 A2A2Y2 Q2NKL0 Q5W0T6 Q8IVX8 Q9BRB9 Q9Y488 Q9Y498
Symbols INV
NPH2
NPHP2

Gene

 GWAS Trait (1)

Gene RIF (10)

PMID Text
23793029 ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3.
23559409 Truncating mutations in NPHP2 gene is associated with nephronophthisis-related ciliopathy.
21068128 Observational study of gene-disease association. (HuGE Navigator)
20798123 INVS mutation can cause juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
19177160 screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 mutations and determined genotype-phenotype correlations
18218308 Cystic kidney disease has been linked to mutations in the Invs gene in mice with an inversion of embryonic turning (inv/inv) and the INVS (NPHP2) gene in human infantile nephronophthisis (NPH).
17216245 new mutant genes might be responsible for the early onset of ESRD in infantile NPHP with features of JBTS
16642442 Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans.
16522655 analysis of a homozygous mutation in exon 13 of inversin (INVS) (C2719T, R907X) in a patient with retinitis pigmentosa and renal failure [case report]
11941489 has conserved ankyrin repeat and IQ domains and interacts with calmodulin

AA Sequence

MNKSENLLFAGSSLASQVHAAAVNGDKGALQRLIVGNSALKDKEDQFGRTPLMYCVLADRLDCADALLKA      1 - 70
GADVNKTDHSQRTALHLAAQKGNYRFMKLLLTRRANWMQKDLEEMTPLHLTTRHRSPKCLALLLKFMAPG     71 - 140
EVDTQDKNKQTALHWSAYYNNPEHVKLLIKHDSNIGIPDVEGKIPLHWAANHKDPSAVHTVRCILDAAPT    141 - 210
ESLLNWQDYEGRTPLHFAVADGNVTVVDVLTSYESCNITSYDNLFRTPLHWAALLGHAQIVHLLLERNKS    211 - 280
GTIPSDSQGATPLHYAAQSNFAETVKVFLKHPSVKDDSDLEGRTSFMWAAGKGSDDVLRTMLSLKSDIDI    281 - 350
NMADKYGGTALHAAALSGHVSTVKLLLENNAQVDATDVMKHTPLFRACEMGHKDVIQTLIKGGARVDLVD    351 - 420
QDGHSLLHWAALGGNADVCQILIENKINPNVQDYAGRTPLQCAAYGGYINCMAVLMENNADPNIQDKEGR    421 - 490
TALHWSCNNGYLDAIKLLLDFAAFPNQMENNEERYTPLDYALLGERHEVIQFMLEHGALSIAAIQDIAAF    491 - 560
KIQAVYKGYKVRKAFRDRKNLLMKHEQLRKDAAAKKREEENKRKEAEQQKGRRSPDSCRPQALPCLPSTQ    561 - 630
DVPSRQSRAPSKQPPAGNVAQGPEPRDSRGSPGGSLGGALQKEQHVSSDLQGTNSRRPNETAREHSKGQS    631 - 700
ACVHFRPNEGSDGSRHPGVPSVEKSRGETAGDERCAKGKGFVKQPSCIRVAGPDEKGEDSRRAAASLPPH    701 - 770
DSHWKPSRRHDTEPKAKCAPQKRRTQELRGGRCSPAGSSRPGSARGEAVHAGQNPPHHRTPRNKVTQAKL    771 - 840
TGGLYSHLPQSTEELRSGARRLETSTLSEDFQVSKETDPAPGPLSGQSVNIDLLPVELRLQIIQRERRRK    841 - 910
ELFRKKNKAAAVIQRAWRSYQLRKHLSHLRHMKQLGAGDVDRWRQESTALLLQVWRKELELKFPQTTAVS    911 - 980
KAPKSPSKGTSGTKSTKHSVLKQIYGCSHEGKIHHPTRSVKASSVLRLNSVSNLQCIHLLENSGRSKNFS    981 - 1050
YNLQSATQPKNKTKP                                                          1051 - 1065
//

Text Mined References (29)

PMID Year Title
23793029 2013 ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
23551011 2013 Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21602787 2011 Nephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargos.
21565611 2011 Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
21068128 2011 Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
20798123 2010 A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
19177160 2009 Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
19066617 2009 Nephronophthisis.
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