Identity
HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
BFIC2,BFIS2,DSPB3,DYT10,EKD1,FICCA,ICCA,IFITMD1,PKC
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 112476
MIM: 614386
HGNC: 30500
Ensembl: ENSG00000167371
Variants:
dbSNP: 112476
ClinVar: 112476
TCGA: ENSG00000167371
COSMIC: PRRT2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37955636 | 2024 | Effects of PRRT2 mutation on brain gray matter networks in paroxysmal kinesigenic dyskinesia. | 0 |
| 37955636 | 2024 | Effects of PRRT2 mutation on brain gray matter networks in paroxysmal kinesigenic dyskinesia. | 0 |
| 36441479 | 2023 | A Push-Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels. | 1 |
| 36775847 | 2023 | PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers. | 1 |
| 36913149 | 2023 | PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES). | 2 |
| 36958475 | 2023 | The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na(+) channels. | 0 |
| 37170076 | 2023 | Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy. | 0 |
| 37271286 | 2023 | Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels. | 1 |
| 36441479 | 2023 | A Push-Pull Mechanism Between PRRT2 and β4-subunit Differentially Regulates Membrane Exposure and Biophysical Properties of NaV1.2 Sodium Channels. | 1 |
| 36775847 | 2023 | PRRT2-positive self-limited infantile epilepsy: Initial seizure characteristics and response to sodium channel blockers. | 1 |
| 36913149 | 2023 | PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES). | 2 |
| 36958475 | 2023 | The intramembrane COOH-terminal domain of PRRT2 regulates voltage-dependent Na(+) channels. | 0 |
| 37170076 | 2023 | Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy. | 0 |
| 37271286 | 2023 | Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels. | 1 |
| 34649875 | 2022 | Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study. | 17 |
Citation
Dessen P
PRRT2 (proline rich transmembrane protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2017-08-01
Online version: http://atlasgeneticsoncology.org/gene/57014
