CEP290 (centrosomal protein 290)

2014-11-01  

Identity

HGNC
CEP290
LOCATION
12q21.32
LOCUSID
80184
ALIAS
3H11Ag,BBS14,CT87,JBTS5,LCA10,MKS4,NPHP6,POC3,SLSN6,rd16
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 80184
MIM: 610142
HGNC: 29021
Ensembl: ENSG00000198707

Variants:

dbSNP: 80184
ClinVar: 80184
TCGA: ENSG00000198707
COSMIC: CEP290

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198707ENST00000309041J3KNF5
ENSG00000198707ENST00000397838A0A0A0MS86
ENSG00000198707ENST00000547691O15078
ENSG00000198707ENST00000547926F8VS29
ENSG00000198707ENST00000550962F8W097
ENSG00000198707ENST00000552770F8W0V9
ENSG00000198707ENST00000552810O15078
ENSG00000198707ENST00000604024S4R322

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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
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
Neutrophil degranulationREACTOMER-HSA-6798695

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
364938482023Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.1
364950112023Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA(CEP290) patients.2
364938482023Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.1
364950112023Alternative splicing in CEP290 mutant cats results in a milder phenotype than LCA(CEP290) patients.2
345328552022HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.0
352714622022Centrosomal protein 290 is a novel prognostic indicator that modulates liver cancer cell ferroptosis via the Nrf2 pathway.3
363847292022Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism.0
364696612022Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.1
345328552022HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.0
352714622022Centrosomal protein 290 is a novel prognostic indicator that modulates liver cancer cell ferroptosis via the Nrf2 pathway.3
363847292022Research on the variants of FGFR1 and CEP290 genes in idiopathic hypogonadotropin hypogonadism.0
364696612022Fleck-like lesions in CEP290-associated leber congenital amaurosis: a case series.1
327471922021Primary cilia biogenesis and associated retinal ciliopathies.41
336258722021Rpgrip1l controls ciliary gating by ensuring the proper amount of Cep290 at the vertebrate transition zone.15
336264952021Knockout of the CEP290 gene in human induced pluripotent stem cells.0

Citation

Dessen P

CEP290 (centrosomal protein 290)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61722/js/lib/js/lib/favicon/apple-touch-icon.png