Protocadherin 19

PCDH19
Identifiers
Aliases	PCDH19, EFMR, EIEE9, protocadherin 19, DEE9
External IDs	OMIM: 300460; MGI: 2685563; GeneCards: PCDH19
Gene location (Human)
Chr.	X chromosome (human)
End	100,410,273 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	132,589,736 bp
RNA expression pattern
	Top expressed in
	entorhinal cortex; ; middle temporal gyrus; ; superior frontal gyrus; ; Brodmann area 46; ; hippocampus proper; ; Brodmann area 23; ; postcentral gyrus; ; amygdala; ; primary visual cortex; ; hypothalamus;
	Top expressed in
	subiculum; ; anterior amygdaloid area; ; mammillary body; ; suprachiasmatic nucleus; ; ventromedial nucleus; ; lateral septal nucleus; ; paraventricular nucleus of hypothalamus; ; arcuate nucleus; ; lateral hypothalamus; ; superior colliculus;
	More reference expression data
	n/a
Gene ontology
Molecular function	calcium ion binding;
Cellular component	integral component of membrane; plasma membrane; membrane; integral component of plasma membrane;
Biological process	brain development; homophilic cell adhesion via plasma membrane adhesion molecules; cell adhesion; cell-cell signaling; nervous system development;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	57526
	279653
	ENSG00000165194
	ENSMUSG00000051323
	Q8TAB3
	Q80TF3
	NM_001105243; NM_001184880; NM_020766
	NM_001105245; NM_001105246
	NP_001098713; NP_001171809; NP_065817
	NP_001098715; NP_001098716
	Wikidata
View/Edit Human	View/Edit Mouse

Protocadherin 19 is a protein belonging to the protocadherin family, which is part of the large cadherin superfamily of cell-adhesion proteins. The PCDH19 gene encoding the protein is located on the long arm of the X chromosome.

Clinical significance

Mutations of the PCDH19 gene cause epilepsy-intellectual disability in females. According to a review published in 2021, PCDH19 was one of the six genes most often affected in genetic epilepsies.

History

The PCDH19 gene that encodes the protein was first cloned in 2000 by Nagase et al. In 2008, PCDH19 was identified as the gene responsible for the development of epilepsy-intellectual disability in females, and in the years that have passed since, rare cases were found of males affected by this disease.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000165194 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000051323 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Dell'Isola GB, Vinti V, Fattorusso A, Tascini G, Mencaroni E, Di Cara G, Striano P, Verrotti A (2021). "The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation". Frontiers in Neurology. 12 780053. doi:10.3389/fneur.2021.780053. PMC 8801579. PMID 35111125.
↑ Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
↑ Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gecz J (February 2019). "A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity". Molecular Psychiatry. 24 (2): 241–251. doi:10.1038/s41380-018-0066-9. PMC 6344372. PMID 29892053.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000165194 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000051323 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid35111125-5] Dell'Isola GB, Vinti V, Fattorusso A, Tascini G, Mencaroni E, Di Cara G, Striano P, Verrotti A (2021). "The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene Mutation". Frontiers in Neurology. 12 780053. doi:10.3389/fneur.2021.780053. PMC 8801579. PMID 35111125.

[pmid10718198-6] Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.

[pmid29892053-7] Kolc KL, Sadleir LG, Scheffer IE, Ivancevic A, Roberts R, Pham DH, Gecz J (February 2019). "A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity". Molecular Psychiatry. 24 (2): 241–251. doi:10.1038/s41380-018-0066-9. PMC 6344372. PMID 29892053.