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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
Enables calcium ion binding activity and identical protein binding activity. Acts upstream of or within brain morphogenesis; neural tube formation; and visual perception. Is 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 developmental and epileptic encephalopathy 9. Orthologous to human PCDH19 (protocadherin 19).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
24 figures from 6 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 3 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 IPR030716 Protocadherin-19
Homologous_superfamily IPR015919 Cadherin-like superfamily
Domain Details Per Protein
Protein Length Cadherin conserved site Cadherin-like Cadherin-like superfamily Cadherin, N-terminal Protocadherin-19
UniProtKB:C4P340 1083
UniProtKB:A0A140LG84 1017
UniProtKB:B1Q3I5 729
UniProtKB:F8W3X3 1088
UniProtKB:A0A2R8QME5 1094
UniProtKB:C4P341 1012
UniProtKB:A1L1W7 1078
UniProtKB:B1Q3I6 800
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-pcdh19 polyclonal Rabbit
  • WB
1
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations