Gene

prrt2

ID
ZDB-GENE-121210-3
Name
proline-rich transmembrane protein 2
Symbol
prrt2 Nomenclature History
Previous Names
  • si:ch211-149k17.5
Type
protein_coding_gene
Location
Chr: 12 Mapping Details/Browsers
Description
Predicted to localize to membrane. Human ortholog(s) of this gene implicated in benign familial neonatal epilepsy and episodic kinesigenic dyskinesia 1. Orthologous to human PRRT2 (proline rich transmembrane protein 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Blaker-Lee et al., 2012
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With prrt2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
benign familial infantile seizures 2 Alliance Seizures, benign familial infantile, 2 605751
episodic kinesigenic dyskinesia 1 Alliance Episodic kinesigenic dyskinesia 1 128200
Convulsions, familial infantile, with paroxysmal choreoathetosis 602066
Associated With prrt2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR007593 CD225/Dispanin family
Family IPR051423 CD225/Dispanin domain-containing protein
Domain Details Per Protein
Protein Length CD225/Dispanin domain-containing protein CD225/Dispanin family
UniProtKB:E7F7R0 226
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA prrt2-201 (1) Ensembl 1,952 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations