NEK8 (NIMA related kinase 8)

2006-10-01  

Identity

HGNC
NEK8
LOCATION
17q11.2
LOCUSID
284086
ALIAS
JCK,NEK12A,NPHP9,RHPD2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 284086
MIM: 609799
HGNC: 13387
Ensembl: ENSG00000160602

Variants:

dbSNP: 284086
ClinVar: 284086
TCGA: ENSG00000160602
COSMIC: NEK8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160602ENST00000268766Q86SG6
ENSG00000160602ENST00000543014K7EL04
ENSG00000160602ENST00000579060K7END4
ENSG00000160602ENST00000579671K7EPD3
ENSG00000160602ENST00000592510K7EMF0

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
237930292013ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.71
210681282011Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.60
230267452012The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.23
269679052016Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.20
254519212015The tumor suppressor pVHL down-regulates never-in-mitosis A-related kinase 8 via hypoxia-inducible factors to maintain cilia in human renal cancer cells.14
278927972017NEK8 regulates DNA damage-induced RAD51 foci formation and replication fork protection.8
150199932004Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors.0
158723122005Nek8 mutation causes overexpression of galectin-1, sorcin, and vimentin and accumulation of the major urinary protein in renal cysts of jck mice.0
181998002008NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.0
221063792012The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.0

Citation

Dessen P

NEK8 (NIMA related kinase 8)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43376/nek8