PRRT2 proline rich transmembrane protein 2

Gene ID: 112476, updated on 3-Apr-2024
Gene type: protein coding
Also known as: PKC; EKD1; ICCA; BFIC2; BFIS2; DSPB3; DYT10; FICCA; IFITMD1

Summary

This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Episodic kinesigenic dyskinesia 1 MedGen: C4552000OMIM: 128200GeneReviews: PRRT2-Associated Paroxysmal Movement Disorders	See labs
Infantile convulsions and choreoathetosis MedGen: C1865926OMIM: 602066GeneReviews: PRRT2-Associated Paroxysmal Movement Disorders	See labs
Seizures, benign familial infantile, 2 MedGen: C1853995OMIM: 605751GeneReviews: PRRT2-Associated Paroxysmal Movement Disorders	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-12-14) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-12-14) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 16p11.2

Sequence:: Chromosome: 16; NC_000016.10 (29812193..29815881)

Total number of exons:: 2

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PRRT2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
Movement Disorder Society Genetic mutation database (PRRT2)
OMIM
Link to related OMIM entry
PRRT2 @ LOVD
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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