CEP78 (centrosomal protein 78)

2017-04-01  

Identity

HGNC
CEP78
LOCATION
9q21.2
LOCUSID
84131
ALIAS
C9orf81,CRDHL,IP63
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84131
MIM: 617110
HGNC: 25740
Ensembl: ENSG00000148019

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148019ENST00000277082A8MST6
ENSG00000148019ENST00000376597Q5JTW2
ENSG00000148019ENST00000376598A0A2U3TZI9
ENSG00000148019ENST00000415759Q5JTW2
ENSG00000148019ENST00000424347Q5JTW2
ENSG00000148019ENST00000642214A0A2R8Y4C1
ENSG00000148019ENST00000642654A0A2R8Y7M8
ENSG00000148019ENST00000642669Q5JTW2
ENSG00000148019ENST00000643273Q5JTW2
ENSG00000148019ENST00000643347A0A2R8Y5W6
ENSG00000148019ENST00000643499A0A2R8Y7A4
ENSG00000148019ENST00000643847A0A2R8Y589
ENSG00000148019ENST00000644208A0A2R8Y432
ENSG00000148019ENST00000645398A0A2R8YCP0
ENSG00000148019ENST00000645865A0A2R8Y7M8
ENSG00000148019ENST00000646288A0A2R8Y7M8
ENSG00000148019ENST00000647130A0A2R8YFB0
ENSG00000148019ENST00000647199A0A2R8Y7U5

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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
352409122022A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.2
362063472022Loss-of-function mutations in CEP78 cause male infertility in humans and mice.8
352409122022A novel frameshift variant in CEP78 associated with nonsyndromic retinitis pigmentosa, and a review of CEP78-related phenotypes.2
362063472022Loss-of-function mutations in CEP78 cause male infertility in humans and mice.8
342237972021Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.10
342596272021CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.20
342237972021Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.10
342596272021CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels.20
319993942020Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.11
331195522020Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder Cancer and Is Associated with Tumor Molecular Subtypes and Mutation Signatures.1
319993942020Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.11
331195522020Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder Cancer and Is Associated with Tumor Molecular Subtypes and Mutation Signatures.1
308841272019Significance of CEP78 and WDR62 gene expressions in differentiated thyroid carcinoma: Possible predictors of lateral lymph node metastasis.2
308841272019Significance of CEP78 and WDR62 gene expressions in differentiated thyroid carcinoma: Possible predictors of lateral lymph node metastasis.2
276279882017CEP78 is mutated in a distinct type of Usher syndrome.24

Citation

Dessen P

CEP78 (centrosomal protein 78)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56800/js/lib/gene-explorer/