PCDH18 (protocadherin 18)

2019-04-01  

Identity

HGNC
PCDH18
LOCATION
4q28.3
LOCUSID
54510
ALIAS
PCDH68L

Other Information

Locus ID:

NCBI: 54510
MIM: 608287
HGNC: 14268
Ensembl: ENSG00000189184

Variants:

dbSNP: 54510
ClinVar: 54510
TCGA: ENSG00000189184
COSMIC: PCDH18

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189184ENST00000344876Q9HCL0
ENSG00000189184ENST00000412923Q9HCL0
ENSG00000189184ENST00000507846D6RIG4
ENSG00000189184ENST00000510305B4DQ29
ENSG00000189184ENST00000511115B4DLR6
ENSG00000189184ENST00000611581A0A087WTW3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
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
285882962017PCDH18 is frequently inactivated by promoter methylation in colorectal cancer.10
285882962017PCDH18 is frequently inactivated by promoter methylation in colorectal cancer.10
267394152016Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.6
267394152016Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.6

Citation

Dessen P

PCDH18 (protocadherin 18)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57894/pcdh18-(protocadherin-18)