• Gene id: 284086

Gene Summary

• Gene Symbol: NEK8   Gene   UCSC   Ensembl
• Aliases: JCK, NEK12A, NPHP9, RHPD2
• Gene name: NIMA related kinase 8
• Alternate names: serine/threonine-protein kinase Nek8, NIMA (never in mitosis gene a)- related kinase 8, NIMA-family kinase NEK8, NIMA-related kinase 12a, nephrocystin 9, never in mitosis A-related kinase 8, nimA-related protein kinase 8, nima-related protein kinase 12a, serine/t,
• Gene location: 17q11.2 (56451331: 56429132)     Exons: 7     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the serine/threionine protein kinase family related to NIMA (never in mitosis, gene A) of Aspergillus nidulans. The encoded protein may play a role in cell cycle progression from G2 to M phase. Mutations in the related mouse
• OMIM: 609799

Protein Summary

• Protein general information: Q86SG6  
  • Name: Serine/threonine protein kinase Nek8 (EC 2.7.11.1) (Never in mitosis A related kinase 8) (NimA related protein kinase 8) (Nima related protein kinase 12a)
  • Length: 692  
  • Mass: 74806
  • Tissue specificity: Highest expression in thyroid, adrenal gland and skin. Low levels in spleen, colon and uterus. Overexpressed in breast tumors, with highest expression in infiltrating ductal carcinomas and moderate levels in mucinous adenocarcinoma. {E
• Sequence:

  MEKYERIRVVGRGAFGIVHLCLRKADQKLVIIKQIPVEQMTKEERQAAQNECQVLKLLNHPNVIEYYENFLEDKA
  LMIAMEYAPGGTLAEFIQKRCNSLLEEETILHFFVQILLALHHVHTHLILHRDLKTQNILLDKHRMVVKIGDFGI
  SKILSSKSKAYTVVGTPCYISPELCEGKPYNQKSDIWALGCVLYELASLKRAFEAANLPALVLKIMSGTFAPISD
  RYSPELRQLVLSLLSLEPAQRPPLSHIMAQPLCIRALLNLHTDVGSVRMRRAEKSVAPSNTGSRTTSVRCRGIPR
  GPVRPAIPPPLSSVYAWGGGLGTPLRLPMLNTEVVQVAAGRTQKAGVTRSGRLILWEAPPLGAGGGSLLPGAVEQ
  PQPQFISRFLEGQSGVTIKHVACGDFFTACLTDRGIIMTFGSGSNGCLGHGSLTDISQPTIVEALLGYEMVQVAC
  GASHVLALSTERELFAWGRGDSGRLGLGTRESHSCPQQVPMPPGQEAQRVVCGIDSSMILTVPGQALACGSNRFN
  KLGLDHLSLGEEPVPHQQVEEALSFTLLGSAPLDQEPLLSIDLGTAHSAAVTASGDCYTFGSNQHGQLGTNTRRG
  SRAPCKVQGLEGIKMAMVACGDAFTVAIGAESEVYSWGKGARGRLGRRDEDAGLPRPVQLDETHPYTVTSVSCCH
  GNTLLAVRSVTDEPVPP

• Structural information:
  • Protein Domains: (4..25-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR009091  IPR000408   IPR008271  
  • Prosite: PS00107 PS50011 PS00108 PS50012
  • STRING: ENSP00000268766
• Other Databases: GeneCards:  NEK8  Malacards:  NEK8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005929	cilium	IMP	cellular component
GO:0005813	centrosome	IBA	cellular component
GO:0009887	animal organ morphogenesis	IBA	biological process
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005929	cilium	IBA	cellular component
GO:0007059	chromosome segregation	IBA	biological process
GO:0035330	regulation of hippo signaling	IDA	biological process
GO:0009887	animal organ morphogenesis	IMP	biological process
GO:0005929	cilium	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0005929	cilium	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097546	ciliary base	IEA	cellular component
GO:0097543	ciliary inversin compartment	IEA	cellular component
GO:0007507	heart development	IEA	biological process
GO:0007368	determination of left/right symmetry	IEA	biological process
GO:0005929	cilium	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component

Diseases

Associated diseases	References
Nephronophthisis	KEGG:H00537
Nephronophthisis	KEGG:H00537
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)