Gene

pcdh19

ID

ZDB-GENE-030131-4218

Name

protocadherin 19

Symbol

pcdh19 Nomenclature History

Previous Names

fc83e05
wu:fc83e05

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. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy 9. Is expressed in several structures, including brain; eye; immature eye; posterior neural keel; and spinal cord. Orthologous to human PCDH19 (protocadherin 19).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

25 figures from 7 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: 14 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With pcdh19 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
developmental and epileptic encephalopathy 9	Alliance	Developmental and epileptic encephalopathy 9	300088

Associated With pcdh19 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR020894	Cadherin conserved site
Domain	IPR002126	Cadherin-like
Domain	IPR013164	Cadherin, N-terminal
Family	IPR050174	Protocadherin/Cadherin-related Cell Adhesion
Homologous_superfamily	IPR015919	Cadherin-like superfamily

Domain Details Per Protein

Protein	Length	Cadherin conserved site	Cadherin-like	Cadherin-like superfamily	Cadherin, N-terminal	Protocadherin/Cadherin-related Cell Adhesion
UniProtKB:A1L1W7 InterPro	1078
UniProtKB:A0A8M3AP82 InterPro	1023
UniProtKB:A0A2R8QME5 InterPro	1094
UniProtKB:F8W3X3 InterPro PDB	1088
UniProtKB:A0A8M1NJM2 InterPro	1088
UniProtKB:A0A9K3Y6L2 InterPro	1083
UniProtKB:A0A9U5BCE3 InterPro	1088

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	pcdh19-201 (1) Ensembl	Ensembl	6,346 nt	Select Tool
mRNA	pcdh19-202 (1) Ensembl	Ensembl	3,054 nt	Select Tool
mRNA	pcdh19-203 (1) Ensembl	Ensembl	7,503 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-pcdh19	polyclonal	pcdh19		Rabbit	WB		1

Plasmids

Addgene:pEGFP-N1-Pcdh19-GFP

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations