NEK8 (NIMA related kinase 8)

NEK8 (NIMA related kinase 8)

2006-10-01 Affiliation

Identity

HGNC

LOCATION

17q11.2

LOCUSID

ALIAS

JCK,NEK12A,NPHP9,RHPD2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000160602	ENST00000268766	Q86SG6
ENSG00000160602	ENST00000543014	K7EL04
ENSG00000160602	ENST00000579060	K7END4
ENSG00000160602	ENST00000579671	K7EPD3
ENSG00000160602	ENST00000592510	K7EMF0

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

References

Pubmed ID	Year	Title	Citations
37596667	2023	NEK8 regulates colorectal cancer progression via phosphorylating MYC.	1
37598857	2023	Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.	3
37596667	2023	NEK8 regulates colorectal cancer progression via phosphorylating MYC.	1
37598857	2023	Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.	3
31633649	2020	Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.	2
31633649	2020	Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.	2
27892797	2017	NEK8 regulates DNA damage-induced RAD51 foci formation and replication fork protection.	15
27892797	2017	NEK8 regulates DNA damage-induced RAD51 foci formation and replication fork protection.	15
26697755	2016	Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.	13
26967905	2016	Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.	46
26697755	2016	Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies.	13
26967905	2016	Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.	46
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.	21
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.	21
23418306	2013	Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.	47

Citation

Dessen P

NEK8 (NIMA related kinase 8)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43376/tumors-explorer/js/web-card-gene.js