CEP19 (centrosomal protein 19)

2014-11-01  

Identity

HGNC
CEP19
LOCATION
3q29
LOCUSID
84984
ALIAS
C3orf34,MOSPGF

Other Information

Locus ID:

NCBI: 84984
MIM: 615586
HGNC: 28209
Ensembl: ENSG00000174007

Variants:

dbSNP: 84984
ClinVar: 84984
TCGA: ENSG00000174007
COSMIC: CEP19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174007ENST00000399942A8MX07
ENSG00000174007ENST00000409690Q96LK0

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
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
291272582018Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.12
291272582018Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.12
284282592017RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly.48
286255652017The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base.61
284282592017RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly.48
286255652017The CEP19-RABL2 GTPase Complex Binds IFT-B to Initiate Intraflagellar Transport at the Ciliary Base.61
242686572013Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.34
242686572013Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice.34

Citation

Dessen P

CEP19 (centrosomal protein 19)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61721/case-report-explorer/js/lib/jquery-3.5.1.min.js