CEP104 (centrosomal protein 104)

2003-05-01  

Identity

HGNC
CEP104
LOCATION
1p36.32
LOCUSID
9731
ALIAS
CFAP256,GlyBP,JBTS25,KIAA0562,ROC22
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9731
MIM: 616690
HGNC: 24866
Ensembl: ENSG00000116198

Variants:

dbSNP: 9731
ClinVar: 9731
TCGA: ENSG00000116198
COSMIC: CEP104

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116198ENST00000378223O60308
ENSG00000116198ENST00000378230O60308
ENSG00000116198ENST00000428079Q5SR27
ENSG00000116198ENST00000438539H7C0J5
ENSG00000116198ENST00000443466Q5SR26
ENSG00000116198ENST00000461667J3QLL3

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
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
341962012021CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.1
341962012021CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.1
328200512020Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling.3
328200512020Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling.3
316256902019Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.7
316256902019Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.7
274028532016Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network.19
274028532016Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network.19
264775462015Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.37
264775462015Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.37

Citation

Dessen P

CEP104 (centrosomal protein 104)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41060/cep104-(centrosomal-protein-104)