Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57526
MIM: 300460
HGNC: 14270
Ensembl: ENSG00000165194
Variants:
dbSNP: 57526
ClinVar: 57526
TCGA: ENSG00000165194
COSMIC: PCDH19
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38238304 | 2024 | Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy. | 1 |
| 38891919 | 2024 | NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy. | 0 |
| 38238304 | 2024 | Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy. | 1 |
| 38891919 | 2024 | NGS-Based Identification of Two Novel PCDH19 Mutations in Female Patients with Early-Onset Epilepsy. | 0 |
| 36980870 | 2023 | PCDH19 in Males: Are Hemizygous Variants Linked to Autism? | 2 |
| 36980870 | 2023 | PCDH19 in Males: Are Hemizygous Variants Linked to Autism? | 2 |
| 35393670 | 2022 | Cadherins and the pathogenesis of epilepsy. | 5 |
| 35613587 | 2022 | The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes. | 6 |
| 35978409 | 2022 | Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations. | 1 |
| 35393670 | 2022 | Cadherins and the pathogenesis of epilepsy. | 5 |
| 35613587 | 2022 | The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes. | 6 |
| 35978409 | 2022 | Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations. | 1 |
| 33262389 | 2021 | Comparative characterization of PCDH19 missense and truncating variants in PCDH19-related epilepsy. | 10 |
| 33937968 | 2021 | Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants. | 5 |
| 34331950 | 2021 | X-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/pcdh19-(protocadherin-19)
