CEP78 (centrosomal protein 78)

2017-04-01 Affiliation

Identity

HGNC

CEP78

LOCATION

9q21.2

LOCUSID

84131

ALIAS

C9orf81,CRDHL,IP63

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: 84131
MIM: 617110
HGNC: 25740
Ensembl: ENSG00000148019

Variants:

dbSNP: 84131
ClinVar: 84131
TCGA: ENSG00000148019
COSMIC: CEP78

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000148019	ENST00000277082	A8MST6
ENSG00000148019	ENST00000376597	Q5JTW2
ENSG00000148019	ENST00000376598	A0A2U3TZI9
ENSG00000148019	ENST00000415759	Q5JTW2
ENSG00000148019	ENST00000424347	Q5JTW2
ENSG00000148019	ENST00000642214	A0A2R8Y4C1
ENSG00000148019	ENST00000642654	A0A2R8Y7M8
ENSG00000148019	ENST00000642669	Q5JTW2
ENSG00000148019	ENST00000643273	Q5JTW2
ENSG00000148019	ENST00000643347	A0A2R8Y5W6
ENSG00000148019	ENST00000643499	A0A2R8Y7A4
ENSG00000148019	ENST00000643847	A0A2R8Y589
ENSG00000148019	ENST00000644208	A0A2R8Y432
ENSG00000148019	ENST00000645398	A0A2R8YCP0
ENSG00000148019	ENST00000645865	A0A2R8Y7M8
ENSG00000148019	ENST00000646288	A0A2R8Y7M8
ENSG00000148019	ENST00000647130	A0A2R8YFB0
ENSG00000148019	ENST00000647199	A0A2R8Y7U5

Expression (GTEx)

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

Pathway	Source	External ID
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Cilium Assembly	REACTOME	R-HSA-5617833
Anchoring of the basal body to the plasma membrane	REACTOME	R-HSA-5620912
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle, Mitotic	REACTOME	R-HSA-69278
Mitotic G2-G2/M phases	REACTOME	R-HSA-453274
G2/M Transition	REACTOME	R-HSA-69275
Regulation of PLK1 Activity at G2/M Transition	REACTOME	R-HSA-2565942
Centrosome maturation	REACTOME	R-HSA-380287
Recruitment of mitotic centrosome proteins and complexes	REACTOME	R-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosome	REACTOME	R-HSA-380284
Loss of Nlp from mitotic centrosomes	REACTOME	R-HSA-380259
AURKA Activation by TPX2	REACTOME	R-HSA-8854518

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
28242748	2017	Cep78 controls centrosome homeostasis by inhibiting EDD-DYRK2-DDB1^Vpr^BP.	11
27627988	2017	CEP78 is mutated in a distinct type of Usher syndrome.	8
27588451	2016	Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.	7
27588452	2016	Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.	6
27246242	2016	Cep78 is a new centriolar protein involved in Plk4-induced centriole overduplication.	3
27357513	2016	Low expression of centrosomal protein 78 (CEP78) is associated with poor prognosis of colorectal cancer patients.	2
30884127	2019	Significance of CEP78 and WDR62 gene expressions in differentiated thyroid carcinoma: Possible predictors of lateral lymph node metastasis.	1

Citation

Dessen P

CEP78 (centrosomal protein 78)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56800/cep78-(centrosomal-protein-78)