CEP250 (centrosomal protein 250)

2014-08-01  

Identity

HGNC
CEP250
LOCATION
20q11.22
LOCUSID
11190
ALIAS
C-NAP1,CEP2,CNAP1,CRDHL2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11190
MIM: 609689
HGNC: 1859
Ensembl: ENSG00000126001

Variants:

dbSNP: 11190
ClinVar: 11190
TCGA: ENSG00000126001
COSMIC: CEP250

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000126001ENST00000397524A6PVI9
ENSG00000126001ENST00000397527Q9BV73
ENSG00000126001ENST00000420564Q5JWS6
ENSG00000126001ENST00000422671H7C0P0
ENSG00000126001ENST00000425096H0Y5R2
ENSG00000126001ENST00000425525H7C0D6
ENSG00000126001ENST00000425934E7ETF9
ENSG00000126001ENST00000446710Q5JWS5
ENSG00000126001ENST00000461386E9PHT2
ENSG00000126001ENST00000621352A0A087WZ34

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

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

References

Pubmed IDYearTitleCitations
357294622022Circ_0060077 Knockdown Alleviates High-Glucose-Induced Cell Apoptosis, Oxidative Stress, Inflammation and Fibrosis in HK-2 Cells via miR-145-5p/VASN Pathway.2
357294622022Circ_0060077 Knockdown Alleviates High-Glucose-Induced Cell Apoptosis, Oxidative Stress, Inflammation and Fibrosis in HK-2 Cells via miR-145-5p/VASN Pathway.2
342237972021Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.10
342237972021Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.10
331091822020Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma.6
331091822020Involvement of NEK2 and its interaction with NDC80 and CEP250 in hepatocellular carcinoma.6
309988432019Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.17
309988432019Functional characterization of CEP250 variant identified in nonsyndromic retinitis pigmentosa.17
297187972018CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.23
304593462018High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.22
297187972018CEP250 mutations associated with mild cone-rod dystrophy and sensorineural hearing loss in a Japanese family.23
304593462018High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.22
281006362017Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification.15
281006362017Centriole splitting caused by loss of the centrosomal linker protein C-NAP1 reduces centriolar satellite density and impedes centrosome amplification.15
256604482015The tumor suppressor proteins ASPP1 and ASPP2 interact with C-Nap1 and regulate centrosome linker reassembly.5

Citation

Dessen P

CEP250 (centrosomal protein 250)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54212/js/case-report-explorer/humanGenome