CEP120 (centrosomal protein 120)

2014-11-01  

Identity

HGNC
CEP120
LOCATION
5q23.2
LOCUSID
153241
ALIAS
CCDC100,JBTS31,SRTD13
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 153241
MIM: 613446
HGNC: 26690
Ensembl: ENSG00000168944

Variants:

dbSNP: 153241
ClinVar: 153241
TCGA: ENSG00000168944
COSMIC: CEP120

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168944ENST00000306467Q8N960
ENSG00000168944ENST00000306481Q8N960
ENSG00000168944ENST00000328236Q8N960
ENSG00000168944ENST00000508138D6R8Z4
ENSG00000168944ENST00000508442D6REX9
ENSG00000168944ENST00000510582F8VRV0
ENSG00000168944ENST00000513565Q8N960
ENSG00000168944ENST00000515110E5RJ50

Expression (GTEx)

0
5
10
15
20
25
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
N/A

References

Pubmed IDYearTitleCitations
380507082024RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.1
380507082024RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.1
334868892021Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.6
347116532021CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.2
334868892021Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.6
347116532021CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum.2
327720812020Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.11
332979412020Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.4
327720812020Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.11
332979412020Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development.4
309883862019CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.17
309883862019CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.17
297414802018A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells.11
298478082018Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.9
297414802018A novel Cep120-dependent mechanism inhibits centriole maturation in quiescent cells.11

Citation

Dessen P

CEP120 (centrosomal protein 120)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61716/js/lib/meetings/