CDC42EP1 (CDC42 effector protein 1)

2012-11-01  

Identity

HGNC
CDC42EP1
LOCATION
22q13.1
LOCUSID
11135
ALIAS
BORG5,CEP1,MSE55
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11135
MIM: 606084
HGNC: 17014
Ensembl: ENSG00000128283

Variants:

dbSNP: 11135
ClinVar: 11135
TCGA: ENSG00000128283
COSMIC: CDC42EP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128283ENST00000249014Q00587
ENSG00000128283ENST00000415670B0QYC7
ENSG00000128283ENST00000430687B0QYC8
ENSG00000128283ENST00000434728B0QYC6

Expression (GTEx)

0
50
100
150
200
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
155748792005Cdc42 and RhoB activation are required for mannose receptor-mediated phagocytosis by human alveolar macrophages.31
279136812016The Borg family of Cdc42 effector proteins Cdc42EP1-5.5

Citation

Dessen P

CDC42EP1 (CDC42 effector protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52978/cdc42ep1