The PRRT2 gene homepage

General information
Gene symbol PRRT2
Gene name proline-rich transmembrane protein 2
Chromosome 16
Chromosomal band p11.2
Imprinted Unknown
Genomic reference NG_032039.1
Transcript reference NM_145239.2
Exon/intron information NM_145239.2 exon/intron table
Associated with diseases BFIS2, DYT10, ICCA
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 113
Unique public DNA variants reported 67
Individuals with public variants 56
Hidden variants 11
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 29, 2012
Date last updated October 31, 2021
Version PRRT2:211031

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_145239.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/PRRT2
HGNC 30500
Entrez Gene 112476
PubMed articles PRRT2
OMIM - Gene 614386
OMIM - Diseases BFIS2 (Seizures, benign familial infantile, type 2 (BFIS-2))
DYT10 (dystonia, type 10 (DYT-10))
ICCA (convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA))
HGMD PRRT2
GeneCards PRRT2
GeneTests PRRT2
Orphanet PRRT2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016952 16 proline-rich transmembrane protein 2 NM_145239.2 NP_660282.2 113


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