InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PRRT2

Summary

InnateDB Protein

IDBP-24758.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PRRT2

Protein Name

proline-rich transmembrane protein 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000351608

InnateDB Gene

IDBG-24754 (PRRT2)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Cell membrane {ECO:0000269PubMed:22101681}; Multi-pass membrane protein {ECO:0000269PubMed:22101681}. Cell junction, synapse {ECO:0000250}.

Disease Associations

Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]: An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. {ECO:0000269PubMed:22101681, ECO:0000269PubMed:22120146, ECO:0000269PubMed:22131361, ECO:0000269PubMed:22209761}. Note=The disease is caused by mutations affecting the gene represented in this entry. Disease- causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytosplasm (PubMed:22101681). {ECO:0000269PubMed:22101681}.Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066]: A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. {ECO:0000269PubMed:22243967}. Note=The disease is caused by mutations affecting the gene represented in this entry.Seizures, benign familial infantile 2 (BFIS2) [MIM:605751]: An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. {ECO:0000269PubMed:22243967, ECO:0000269PubMed:22399141, ECO:0000269PubMed:22623405}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.