CEP162 (centrosomal protein 162)

2014-11-01  

Identity

HGNC
CEP162
LOCATION
6q14.2
LOCUSID
22832
ALIAS
C6orf84,KIAA1009,QN1

Other Information

Locus ID:

NCBI: 22832
MIM: 610201
HGNC: 21107
Ensembl: ENSG00000135315

Variants:

dbSNP: 22832
ClinVar: 22832
TCGA: ENSG00000135315
COSMIC: CEP162

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135315ENST00000257766Q5TB80
ENSG00000135315ENST00000403245Q5TB80
ENSG00000135315ENST00000435955F6V2J0
ENSG00000135315ENST00000617909Q5TB80

Expression (GTEx)

0
5
10
15
20
25
30
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
368625032023CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.1
370666952023The association of five polymorphisms with diabetic retinopathy in a Chinese population.0
368625032023CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.1
370666952023The association of five polymorphisms with diabetic retinopathy in a Chinese population.0
236444682013CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base.56
236444682013CEP162 is an axoneme-recognition protein promoting ciliary transition zone assembly at the cilia base.56
163020012006QN1/KIAA1009: a new essential protein for chromosome segregation and mitotic spindle assembly.9
163020012006QN1/KIAA1009: a new essential protein for chromosome segregation and mitotic spindle assembly.9

Citation

Dessen P

CEP162 (centrosomal protein 162)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61719