PCDH19 (protocadherin 19)

2019-05-01  

Identity

HGNC
LOCATION
Xq22.1
LOCUSID
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184698132008X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.92
192142082009Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.69
192142082009Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.69
258180412015Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.53
197521592010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.21
207139522010Protocadherin 19 mutations in girls with infantile-onset epilepsy.21
207139522010Protocadherin 19 mutations in girls with infantile-onset epilepsy.21
210533712011Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.21
210533712011Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.21
233344642013Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.19

Citation

Dessen P

PCDH19 (protocadherin 19)

Atlas Genet Cytogenet Oncol Haematol. 2019-05-01

Online version: http://atlasgeneticsoncology.org/gene/58025/pcdh19