Property Summary

NCBI Gene PubMed Count 22
Grant Count 16
R01 Count 13
Funding $1,525,846.02
PubMed Score 49.56
PubTator Score 27.77

Knowledge Summary

Patent (2,833)

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.742 0.000
ovarian cancer -1.700 0.000

Gene RIF (11)

PMID Text
26967905 our study demonstrates that NEK8 human mutations cause major organ developmental defects due to altered ciliogenesis and cell differentiation/proliferation through deregulation of the Hippo pathway
25451921 NEK8 may be a new target gene of HIFs; pVHL can down-regulate NEK8 via HIFs to maintain the primary cilia structure in human renal cancer cells
23973373 Mutation in NEK8 is associated with renal ciliopathies
23793029 ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8, INVS and NPHP3.
23418306 NEK8 is essential for organ development and that the complete loss of NEK8 perturbs multiple signalling pathways resulting in a severe early embryonic phenotype.
23026745 NPHP9 promotes signalling through the transcriptional co-activator TAZ.
22106379 study finds that induction of ciliogenesis upon cell cycle exit is accompanied by both activation and proteasomal degradation of Nek8, and that activation is dependent upon phosphorylation within the catalytic domain
21068128 Observational study of gene-disease association. (HuGE Navigator)
18199800 mutations cause nephronophthisis; mutant forms show defects in ciliary localization
15872312 characterization of the proteome in mice that have a double point mutation in the related gene.
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AA Sequence

MEKYERIRVVGRGAFGIVHLCLRKADQKLVIIKQIPVEQMTKEERQAAQNECQVLKLLNHPNVIEYYENF      1 - 70
LEDKALMIAMEYAPGGTLAEFIQKRCNSLLEEETILHFFVQILLALHHVHTHLILHRDLKTQNILLDKHR     71 - 140
MVVKIGDFGISKILSSKSKAYTVVGTPCYISPELCEGKPYNQKSDIWALGCVLYELASLKRAFEAANLPA    141 - 210
LVLKIMSGTFAPISDRYSPELRQLVLSLLSLEPAQRPPLSHIMAQPLCIRALLNLHTDVGSVRMRRAEKS    211 - 280
VAPSNTGSRTTSVRCRGIPRGPVRPAIPPPLSSVYAWGGGLGTPLRLPMLNTEVVQVAAGRTQKAGVTRS    281 - 350
GRLILWEAPPLGAGGGSLLPGAVEQPQPQFISRFLEGQSGVTIKHVACGDFFTACLTDRGIIMTFGSGSN    351 - 420
GCLGHGSLTDISQPTIVEALLGYEMVQVACGASHVLALSTERELFAWGRGDSGRLGLGTRESHSCPQQVP    421 - 490
MPPGQEAQRVVCGIDSSMILTVPGQALACGSNRFNKLGLDHLSLGEEPVPHQQVEEALSFTLLGSAPLDQ    491 - 560
EPLLSIDLGTAHSAAVTASGDCYTFGSNQHGQLGTNTRRGSRAPCKVQGLEGIKMAMVACGDAFTVAIGA    561 - 630
ESEVYSWGKGARGRLGRRDEDAGLPRPVQLDETHPYTVTSVSCCHGNTLLAVRSVTDEPVPP            631 - 692
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Text Mined References (22)

PMID Year Title
26967905 2016 Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
26638075 2015 A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface.
25451921 2015 The tumor suppressor pVHL down-regulates never-in-mitosis A-related kinase 8 via hypoxia-inducible factors to maintain cilia in human renal cancer cells.
25416956 2014 A proteome-scale map of the human interactome network.
25036637 2014 A quantitative chaperone interaction network reveals the architecture of cellular protein homeostasis pathways.
23973373 2013 NEK8 links the ATR-regulated replication stress response and S phase CDK activity to renal ciliopathies.
23793029 2013 ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
23418306 2013 Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
23026745 2012 The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.
22106379 2012 The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.
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