CEP164 (centrosomal protein 164)

2009-06-01  

Identity

HGNC
CEP164
LOCATION
11q23.3
LOCUSID
22897
ALIAS
NPHP15
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 22897
MIM: 614848
HGNC: 29182
Ensembl: ENSG00000110274

Variants:

dbSNP: 22897
ClinVar: 22897
TCGA: ENSG00000110274
COSMIC: CEP164

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110274ENST00000278935Q9UPV0
ENSG00000110274ENST00000525416E9PIM2
ENSG00000110274ENST00000525734E9PI05
ENSG00000110274ENST00000527609E9PLS8
ENSG00000110274ENST00000533153E9PR73
ENSG00000110274ENST00000533570E9PLS8
ENSG00000110274ENST00000639320A0A1W2PQ68

Expression (GTEx)

0
10
20
30
40
50
60
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

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
AURKA Activation by TPX2REACTOMER-HSA-8854518

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
seminal vesicle
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
362733712023Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.4
362733712023Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.4
344998532022Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.6
344998532022Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.6
319909172020Embryonic and foetal expression patterns of the ciliopathy gene CEP164.5
319909172020Embryonic and foetal expression patterns of the ciliopathy gene CEP164.5
269661852016CEP164-null cells generated by genome editing show a ciliation defect with intact DNA repair capacity.19
269661852016CEP164-null cells generated by genome editing show a ciliation defect with intact DNA repair capacity.19
249821332014Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.89
252976232014Binding to Cep164, but not EB1, is essential for centriolar localization of TTBK2 and its function in ciliogenesis.35
253405102014Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition.34
249821332014Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.89
252976232014Binding to Cep164, but not EB1, is essential for centriolar localization of TTBK2 and its function in ciliogenesis.35
253405102014Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition.34
220044252012Genetic risk of hepatocellular carcinoma in patients with hepatitis C virus: a case control study.20

Citation

Dessen P

CEP164 (centrosomal protein 164)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50935/gene-fusions-explorer/js/lib/case-report-explorer/