CEP83 (centrosomal protein 83)

2003-06-01  

Identity

HGNC
CEP83
LOCATION
12q22
LOCUSID
51134
ALIAS
CCDC41,NPHP18,NY-REN-58
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51134
MIM: 615847
HGNC: 17966
Ensembl: ENSG00000173588

Variants:

dbSNP: 51134
ClinVar: 51134
TCGA: ENSG00000173588
COSMIC: CEP83

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173588ENST00000339839Q9Y592
ENSG00000173588ENST00000397807A0A0A0MS84
ENSG00000173588ENST00000397809Q9Y592
ENSG00000173588ENST00000547232A0A338VFC5
ENSG00000173588ENST00000547575F8VYN8
ENSG00000173588ENST00000552632H0YHH5

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

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
362226662022The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage.2
362226662022The centrosomal protein 83 (CEP83) regulates human pluripotent stem cell differentiation toward the kidney lineage.2
339386102021Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.4
339386102021Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.4
314556682019Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation.34
314556682019Phosphorylation of CEP83 by TTBK2 is necessary for cilia initiation.34
248827062014Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.60
248827062014Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.60
235302092013CCDC41 is required for ciliary vesicle docking to the mother centriole.94
235302092013CCDC41 is required for ciliary vesicle docking to the mother centriole.94

Citation

Dessen P

CEP83 (centrosomal protein 83)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41598