ZFIN Gene: pcdh19

ZFIN ID: ZDB-GENE-030131-4218

ZFIN ID: ZDB-GENE-030131-4218

Gene Name:

protocadherin 19

Gene Symbol:

pcdh19 Nomenclature History

Previous Names:

fc83e05, wu:fc83e05

Gene Type:

protein_coding_gene

Location:

Chr: 14 Mapping Details/Browsers

Description:

Exhibits calcium ion binding activity and identical protein binding activity. Involved in brain morphogenesis; neural tube formation; and visual perception. Localizes to integral component of membrane. Is expressed in several structures, including brain; eye; immature eye; posterior neural keel; and spinal cord. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 9. Orthologous to human PCDH19 (protocadherin 19).

Genome Resources:

Alliance (1), Gene:555688 (1), Ensembl(GRCz11):ENSDARG00000034344 (2)

GENE EXPRESSION
All Expression Data:	24 figures from 6 publications
Wild-type Stages, Structures:	Gastrula:Shield (6.0h-8.0h) to Adult (90d-730d, breeding adult)
	accessory pretectal nucleus anterior neural keel brain caudal motor nucleus caudal octavolateralis nucleus caudal periventricular hypothalamus caudal pretectal nucleus caudal tuberal nucleus caudal zone of dorsal telencephalon central caudal thalamic nucleus central nucleus of ventral telencephalon central pretectal nucleus cerebellum corpus cerebelli corpus mamillare diencephalon dorsal caudal thalamic nucleus dorsal entopeduncular nucleus of ventral telencephalon dorsal horn spinal cord dorsal nucleus of ventral telencephalon dorsal periventricular hypothalamus dorsal tegmental nucleus dorsal thalamus eye floor plate neural tube floor plate spinal cord region forebrain forebrain neural rod fourth ventricle neuroepithelial cell glossopharyngeal lobe granular eminence granular layer corpus cerebelli griseum centrale habenula hindbrain dorso-lateral region hindbrain hindbrain neural keel hindbrain neural rod hypochord immature eye inferior olive intermediate thalamic nucleus interpeduncular nucleus tegmentum lateral hypothalamic nucleus lateral lemniscus nucleus lateral preglomerular nucleus lateral valvula cerebelli lateral zone of dorsal telencephalon lens lens epithelium magnocellular octaval nucleus medial caudal lobe medial funicular nucleus medulla oblongata medial octavolateralis nucleus medial preglomerular nucleus medial valvula cerebelli midbrain midbrain neural rod motor nucleus of vagal nerve nucleus isthmi nucleus lateralis valvulae nucleus of the descending root nucleus of the medial longitudinal fasciculus synencephalon octaval nerve motor nucleus oculomotor nucleus olfactory bulb central region olfactory bulb optic cup optic tectum optic vesicle otic vesicle parvocellular preoptic nucleus anterior region parvocellular preoptic nucleus posterior region parvocellular superficial pretectal nucleus periventricular grey zone periventricular nucleus periventricular nucleus of caudal tuberculum postcommissural nucleus of ventral telencephalon posterior neural keel presumptive rhombomere 1 presumptive rhombomere 4 pretecto-mammillary tract reticular formation retina retinal ganglion cell layer rostral preglomerular nucleus rostral thalamic nucleus rostral tuberal nucleus saccus dorsalis secondary gustatory nucleus trigeminal nucleus sensory root of facial nerve sensory trigeminal nucleus solid lens vesicle spinal cord spinal cord interneuron spinal cord neural tube stratum album centrale stratum fibrosum et griseum superficiale stratum griseum centrale stratum marginale superior raphe nucleus suprachiasmatic nucleus tegmentum telencephalon antero-dorsal region telencephalon dorso-medial region telencephalon ventro-lateral region telencephalon ventro-medial region telencephalon thalamus torus longitudinalis trigeminal motor nucleus trochlear motor nucleus upper rhombic lip vagal lobe valvula cerebelli ventral accessory optic nucleus ventral entopeduncular nucleus of ventral telencephalon ventral funiculus ventral horn spinal cord ventral nucleus of ventral telencephalon ventral telencephalon ventrolateral nucleus ventromedial thalamic nucleus viscerosensory commissural nucleus of Cajal whole organism
High Throughput Expression:	GEO (1) , Expression Atlas (1)

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
la011465Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
la012600Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
os50	Small Deletion	Unknown	Unknown	TALEN
os51	Small Deletion	Unknown	Unknown	TALEN
os52	Small Deletion	Unknown	Unknown	TALEN
sa952	Point Mutation	Unknown	Premature Stop	ENU
sa12445	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa22530	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa22531	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa30984	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa35742	Point Mutation	Unknown	Splice Site	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa35743	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)

Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Publications
MO1-pcdh19	N/A	2
MO2-pcdh19	N/A	3
MO3-pcdh19	N/A	1
TALEN1-pcdh19	os50 os51 os52	1

PHENOTYPE

Data:	9 figures from 3 publications
Observed in:	brain brain morphogenesis convergent extension ethmoid cartilage forebrain hindbrain midbrain hindbrain boundary neural keel neural rod neurocranial trabecula neuron optic tectum cell population proliferation optic tectum neuron optic tectum optic vesicle ventricular system epithelium visual behavior whole organism

DISEASE ASSOCIATED WITH pcdh19 HUMAN ORTHOLOG

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
early infantile epileptic encephalopathy 9	Alliance	Epileptic encephalopathy, early infantile, 9	300088

DISEASE ASSOCIATED WITH pcdh19 VIA EXPERIMENTAL MODELS No data available

GENE ONTOLOGY

Ontology	GO Term
Biological Process	brain morphogenesis (more)
Cellular Component	integral component of membrane (more)
Molecular Function	calcium ion binding (more)

GO Terms (all 13)

PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available

TRANSCRIPTS
Type	Name	Length (nt)	Analysis
mRNA	pcdh19-201 (1)	6346	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
	pcdh19-202 (1)	3054	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Browsers: UCSC, NCBI, Ensembl, ZFIN

INTERACTIONS AND PATHWAYS

ANTIBODIES

Name	Type	Isotype	Host Organism	Assay	Source	Publications
Ab1-pcdh19	polyclonal		Rabbit	WB		1

PLASMIDS

Addgene:pEGFP-N1-Pcdh19-GFP

CONSTRUCTS WITH SEQUENCES FROM pcdh19

Construct	Regulatory Regions	Coding Sequences	Species	Tg Lines	Publications
TgBAC(pcdh19:GAL4-VP16-FRT,5xUAS:LIFEACT-GFP)	pcdh19, UAS	FRT, GAL4, GFP, LIFEACT, VP16	Danio rerio	1	2

MARKER RELATIONSHIPS

pcdh19 Contained in:	[BAC] CH211-237H22 (1) [Fosmid] CH1073-359P3 (1)
pcdh19 Encodes:	[EST] fc83e05

SEQUENCE INFORMATION

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:NM_001127519 (1)	6322 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:CU151882 (1)	128581 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:A0A2R8QME5 (1)	1094 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Sequence Information (all 35)

ORTHOLOGY for pcdh19 ( Chr: 14 )

CITATIONS (33)

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