PCDH19 Gene

Aliases
for PCDH19 gene

Previous GC identifers: GC0XM094828 GC0XM096507 GC0XM097582 GC0XM098318 GC0XM099352 GC0XM099433 GC0XM089347

Summaries
for PCDH19 gene

Genomic Views
for PCDH19 gene

RefSeq DNA sequence:

NC_000023.10  NC_018934.1  NT_011651.17  

Browse SwitchGear Promoter luciferase reporter plasmids

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PCDH19

PCDH19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM099546:  view genomic region     (about GC identifiers)

Proteins
for PCDH19 gene

Explore the universe of human proteins at neXtProt for PCDH19: NX_Q8TAB3

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: PCDH19 OriGene Custom Protein Services for PCDH19
	GenScript Custom Purified and Recombinant Proteins Services for PCDH19
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for PCDH19

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PCDH19
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for PCDH19
	GenScript Custom Superior Antibodies Services for PCDH19
	Novus Biologicals PCDH19 Antibodies
	Search for Antibodies for PCDH19 at Abcam
	Uscn Antibodies for PCDH19
	Search ThermoFisher Antibodies for PCDH19

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PCDH19
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PCDH19

Protein Domains /
Families
for PCDH19 gene

ProtoNet protein and cluster: Q8TAB3

Function
for PCDH19 gene

miRNA Products:		OriGene 3'-UTR Clone (see all 2): PCDH19 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PCDH19
		8/141 QIAGEN miScript miRNA Assays for microRNAs that regulate PCDH19 (see all 141):
		hsa-miR-149 hsa-miR-376a* hsa-miR-200b hsa-miR-877 hsa-miR-130a* hsa-miR-23c hsa-miR-587 hsa-let-7e
		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PCDH19 (see all 4) OriGene shRNA RFP: PCDH19 OriGene siRNA: PCDH19
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PCDH19

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for PCDH19

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PCDH19 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PCDH19 (see all 4) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): PCDH19 (NM_020766)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PCDH19
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PCDH19

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PCDH19
		Search LifeMap BioReagents cell lines for PCDH19

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCDH19

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

Pathways & Interactions
for PCDH19 gene

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

Drugs & Compounds
for PCDH19 gene

Transcripts
for PCDH19 gene

Expression
for PCDH19 gene

PCDH19 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AGTCAAATTG

3 LifeMap In Vivo Development Anatomical Compartments/Cells
	Tissue Anatomical Compartment Cell			Category (developmental path)
	EyeInner Nuclear LayerGABAergic Amacrine Cells			Amacrine, Retina
	EyeInner Nuclear LayernGnG Amacrine Cells			Amacrine, Retina
	PlacentaChorioallantoic PlacentaExtraembryonic Angioblasts			Endothelium
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 2 LifeMap Cells
	Name			Category
	PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
	Posterior foregut-like cells (A scalable, suspensi...)

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PCDH19 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PCDH19
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PCDH19
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PCDH19

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PCDH19

Orthologs
for PCDH19 gene

Paralogs
for PCDH19 gene

Paralogs for PCDH19 gene

PCDH17²  PCDH7²  PCDH11X²  PCDH20²  PCDH1²  PCDH10²  PCDH11Y²  PCDH12²  

PCDH18²  PCDH9²  PCDH8²  

18/69 SIMAP similar genes for PCDH19 using alignment to 3 protein entries:     PCD19_HUMAN (see all proteins) (see all similar genes):

PCDH17    PCDHGA3    PCDHAC2    PCDHGA11    PCDHGA12    PCDHGA6

PCDHGB2    PCDHGB6    PCDHGB7    DKFZp586I1919    ME6    PCDHB3

PCDHGA1    PCDHGA10    PCDHGA4    PCDHGA7    PCDHB13    ME1

PCDH19 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for PCDH19
PGOHUM00000235236

Genomic Variants
for PCDH19 gene

10/1287 NCBI SNPs in PCDH19 are shown (see all 1287)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1898534431,2		--	99546263(+)	TTTTTA/TAAATT	3	--	ds5001		0	--	--	--	--
rs1922994931,2		--	99546334(+)	TTTAGC/TGCTCT	3	--	ds5001		0	--	--	--	--
rs1846451981,2		--	99546396(+)	CTTCCA/TCCTCA	3	--	ds5001		0	--	--	--	--
rs1479601011,2		--	99546398(+)	TCCTCC/TTCAGG	3	--	ds5001		0	--	--	--	--
rs1903120601,2		--	99546739(+)	TAAAAA/GGAAAC	3	--	ut31		0	--	--	--	--
rs128384551,2	C,H	--	99546743(+)	AGGAAA/CCAATG	3	--	ut31 ese3		4		NS EA	418
rs1819599461,2		--	99546872(+)	CACTGC/TGAAAA	3	--	ut31		0	--	--	--	--
rs1863493491,2		--	99546959(+)	ATACTA/GTACTT	3	--	ut31		0	--	--	--	--
rs1887967461,2		--	99547000(+)	CAGGTA/GAACAG	3	--	ut31		0	--	--	--	--
rs1815801931,2		--	99547050(+)	GAAGGC/TGTAAG	3	--	ut31		0	--	--	--	--

HapMap Linkage Disequilibrium report for PCDH19 (99546642 - 99665271 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for PCDH19
     3 CNVs: 96845 8309 83648
Human Gene Mutation Database (HGMD): PCDH19

Locus Specific Mutation Databases (LSDB): PCDH19

SABiosciences Cancer Mutation PCR Assays

1 SABiosciences qBiomarker Copy Number PCR Array containing PCDH19: Intellectual Disability

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PCDH19

DNA2.0 Custom Variant and Variant Library Synthesis for PCDH19

Disorders / Diseases
for PCDH19 gene

Publications
for PCDH19 gene

PubMed articles for PCDH19 gene, integrated from 9 sources (see all 28): (articles sorted by number of sources associating them with PCDH19)

Utopia: connect your pdf to the dynamic world of online information

1. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. (PubMed id 18469813)^{1, 2, 3, 9} Dibbens L.M....Gecz J. (2008)
2. Epilepsy and mental retardation limited to females wi th PCDH19 mutations can present de novo or in single generation families. (PubMed id 19752159)^{1, 2, 3, 9} Hynes K....Scheffer I.E. (2010)
3. Identification and characterization of three members of a novel subclass of protocadherins. (PubMed id 11549318)^{1, 2, 3} Wolverton T. and Lalande M. (2001)
4. PCDH19 mutation in Japanese females with epilepsy. (PubMed id 22050978)^{1, 2} Higurashi N.... Hirose S. (2012)
5. Spectrum of phenotypes in female patients with epilep sy due to protocadherin 19 mutations. (PubMed id 21480887)^{1, 2} Specchio N....Vigevano F. (2011)
6. Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. (PubMed id 21053371)^{1, 2} Depienne C....Leguern E. (2011)
7. Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. (PubMed id 21519002)^{1, 2} Dibbens L.M....Scheffer I.E. (2011)
8. Novel de novo PCDH19 mutations in three unrelated fem ales with epilepsy female restricted mental retardation syndrome. (PubMed id 20830798)^{1, 2} Jamal S.M....Milunsky J.M. (2010)
9. Protocadherin 19 mutations in girls with infantile-on set epilepsy. (PubMed id 20713952)^{1, 2} Marini C....Guerrini R. (2010)
10. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. (PubMed id 19214208)^{1, 2} Depienne C....Leguern E. (2009)

External Searches for PCDH19 gene

Genome Databases showing PCDH19 gene

Other Databases showing PCDH19 gene

Specialized Databases showing PCDH19 gene

Products
for PCDH19 gene