PCDH19 (protocadherin 19)

2019-05-01  

Identity

HGNC
PCDH19
LOCATION
Xq22.1
LOCUSID
57526
ALIAS
DEE9,EFMR,EIEE9

Other Information

Locus ID:

NCBI: 57526
MIM: 300460
HGNC: 14270
Ensembl: ENSG00000165194

Variants:

dbSNP: 57526
ClinVar: 57526
TCGA: ENSG00000165194
COSMIC: PCDH19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165194ENST00000255531Q8TAB3
ENSG00000165194ENST00000373034Q8TAB3
ENSG00000165194ENST00000420881Q8TAB3
ENSG00000165194ENST00000464981A0A1Y8EN23
ENSG00000165194ENST00000636150A0A1B0GVC8

Expression (GTEx)

0
1
2
3
4
5
6
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
382383042024Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.1
388919192024NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy.0
382383042024Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.1
388919192024NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy.0
369808702023PCDH19 in Males: Are Hemizygous Variants Linked to Autism?2
369808702023PCDH19 in Males: Are Hemizygous Variants Linked to Autism?2
353936702022Cadherins and the pathogenesis of epilepsy.5
356135872022The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes.6
359784092022Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.1
353936702022Cadherins and the pathogenesis of epilepsy.5
356135872022The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes.6
359784092022Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations.1
332623892021Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy.10
339379682021Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.5
343319502021X-chromosome inactivation and PCDH19-associated epileptic encephalopathy: A novel PCDH19 variant in a Chinese family.5

Citation

Dessen P

PCDH19 (protocadherin 19)

Atlas Genet Cytogenet Oncol Haematol. 2019-05-01

Online version: http://atlasgeneticsoncology.org/gene/58025