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Nek8 Gene Detail
Summary
  • Symbol
    Nek8
  • Name
    NIMA (never in mitosis gene a)-related expressed kinase 8
  • Synonyms
    4632401F23Rik, b2b1449Clo
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890646
    NCBI Gene: 140859
  • Gene Overview
    MyGene.info: NEK8
Location & Maps
more
  • Sequence Map
    Chr11:78166106-78176675 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      10570 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 46.74 cM, cytoband B5
  • Mapping Data
    6 experiments
Homology
more
  • Human Ortholog
    NEK8, NIMA related kinase 8
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NEK8, NIMA related kinase 8
    Orthology source: HGNC, HomoloGene
  • Synonyms
    JCK, NEK12A, NPHP9, RHPD2
  • Links
    NCBI Gene ID: 284086
    neXtProt AC: NX_Q86SG6

  • Chr Location
    17q11.1; chr17:28725897-28742766 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 84442
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: NEK8
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Nek8 mouse models; 2 with human NEK8 associations

Human Disease Mouse Models
       Polycystic Kidney Disease, Autosomal Recessive; ARPKD   OMIM: 263200 View 1 model
       Nephronophthisis 9; NPHP9   OMIM: 613824
Renal-Hepatic-Pancreatic Dysplasia 2; RHPD2   OMIM: 615415
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    24 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    8 images
    35 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Spontaneous
    1
  • Targeted
    2
  • Genomic Mutations
    2 involving Nek8
  • Incidental Mutations
Homozygous mutant mice display kidney cysts primarily in the cortex, progressive kidney enlargement, increased serum creatinine levels, impaired maternal nurturing, and premature death. Heterotaxy with congenital heart disease such as hypoplastic right ventricle and small tricuspid valve is seen.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000000109 VEGA Gene Model | MGI Sequence Detail 10570 C57BL/6J ±  kb
transcript OTTMUST00000000369 VEGA | MGI Sequence Detail 2809 Not Applicable  
polypeptide OTTMUSP00000000162 VEGA | MGI Sequence Detail 698 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    9 from dbSNP Build 142
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000011134 serine/threonine-protein kinase Nek8
  • EC
  • InterPro Domains
    IPR017441 Protein kinase, ATP binding site
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR009091 Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
    IPR000408 Regulator of chromosome condensation, RCC1
    IPR008271 Serine/threonine-protein kinase, active site
Molecular
Reagents
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  • All nucleic 27
    cDNA 26
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-11520, MGI:1921589, MGI:5317582, MGI:96632
References
more
  • Summaries
    All 60
    Developmental Gene Expression 2
    Diseases 4
    Gene Ontology 11
    Phenotypes 35
  • Earliest
    J:11885 Atala A, et al., Juvenile cystic kidneys (jck): a new mouse mutation which causes polycystic kidneys. Kidney Int. 1993 May;43(5):1081-5
  • Latest
    J:232407 Grampa V, et al., Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation. PLoS Genet. 2016 Mar;12(3):e1005894

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory