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

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
Homologous_superfamily	IPR015919	Cadherin-like superfamily

Domain Details Per Protein

Protein	Length	Cadherin conserved site	Cadherin-like	Cadherin-like superfamily	Cadherin, N-terminal
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	Havana	6346 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	pcdh19-202 (1) Ensembl	Havana	3054 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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