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Aliases for PRRT2 Gene

Aliases for PRRT2 Gene

  • Proline Rich Transmembrane Protein 2 2 3
  • Interferon Induced Transmembrane Protein Domain Containing 1 2 3
  • Infantile Convulsions And Paroxysmal Choreoathetosis 2 3
  • Proline-Rich Transmembrane Protein 2 2 5
  • Dispanin Subfamily B Member 3 3 4
  • Dystonia 10 2 3
  • DSPB3 3 4
  • IFITMD1 3
  • BFIC2 3
  • BFIS2 3
  • FICCA 3
  • DYT10 3
  • EKD1 3
  • ICCA 3
  • PKC 3

External Ids for PRRT2 Gene

Previous HGNC Symbols for PRRT2 Gene

  • ICCA
  • DYT10

Previous GeneCards Identifiers for PRRT2 Gene

  • GC16P029732
  • GC16P029733
  • GC16P029823
  • GC16P027484

Summaries for PRRT2 Gene

Entrez Gene Summary for PRRT2 Gene

  • 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]

GeneCards Summary for PRRT2 Gene

PRRT2 (Proline Rich Transmembrane Protein 2) is a Protein Coding gene. Diseases associated with PRRT2 include Episodic Kinesigenic Dyskinesia 1 and Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis. An important paralog of this gene is TUSC5.

Gene Wiki entry for PRRT2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRRT2 Gene

Genomics for PRRT2 Gene

Regulatory Elements for PRRT2 Gene

Enhancers for PRRT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRRT2 on UCSC Golden Path with GeneCards custom track

Promoters for PRRT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PRRT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRRT2 Gene

29,811,382 bp from pter
29,815,892 bp from pter
4,511 bases
Plus strand

Genomic View for PRRT2 Gene

Genes around PRRT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRRT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRRT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRRT2 Gene

Proteins for PRRT2 Gene

  • Protein details for PRRT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Proline-rich transmembrane protein 2
    Protein Accession:
    Secondary Accessions:
    • A8K8M8
    • Q8N2N8
    • Q8NAQ7
    • Q8ND36
    • Q96FA8

    Protein attributes for PRRT2 Gene

    340 amino acids
    Molecular mass:
    34945 Da
    Quaternary structure:
    • Component of the outer core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing (By similarity).

    Alternative splice isoforms for PRRT2 Gene


neXtProt entry for PRRT2 Gene

Proteomics data for PRRT2 Gene at MOPED

Post-translational modifications for PRRT2 Gene

  • Glycosylation at Asn 53
  • Modification sites at PhosphoSitePlus

Other Protein References for PRRT2 Gene

Antibody Products

  • Abcam antibodies for PRRT2

No data available for DME Specific Peptides for PRRT2 Gene

Domains & Families for PRRT2 Gene

Gene Families for PRRT2 Gene

Protein Domains for PRRT2 Gene

Suggested Antigen Peptide Sequences for PRRT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the CD225/Dispanin family.
  • Belongs to the CD225/Dispanin family.
genes like me logo Genes that share domains with PRRT2: view

Function for PRRT2 Gene

genes like me logo Genes that share phenotypes with PRRT2: view

Human Phenotype Ontology for PRRT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRRT2 Gene

MGI Knock Outs for PRRT2:

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PRRT2 Gene

Localization for PRRT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRRT2 Gene

Cell membrane; Multi-pass membrane protein. Cell junction, synapse.

Subcellular locations from

Jensen Localization Image for PRRT2 Gene COMPARTMENTS Subcellular localization image for PRRT2 gene
Compartment Confidence
plasma membrane 5
nucleus 2

Gene Ontology (GO) - Cellular Components for PRRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with PRRT2: view

Pathways & Interactions for PRRT2 Gene

SuperPathways for PRRT2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRRT2 Gene


No data available for Pathways by source and SIGNOR curated interactions for PRRT2 Gene

Drugs & Compounds for PRRT2 Gene

(1) Drugs for PRRT2 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
bryostatin Pharma inhibitor 0
genes like me logo Genes that share compounds with PRRT2: view

Transcripts for PRRT2 Gene

Unigene Clusters for PRRT2 Gene

Proline-rich transmembrane protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRRT2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1: - - -
SP2: - -
SP3: -
SP4: - - -
SP5: - -

Relevant External Links for PRRT2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRRT2 Gene

mRNA expression in normal human tissues for PRRT2 Gene

mRNA differential expression in normal tissues according to GTEx for PRRT2 Gene

This gene is overexpressed in Brain - Cerebellum (x6.8) and Brain - Cerebellar Hemisphere (x6.2).

Protein differential expression in normal tissues from HIPED for PRRT2 Gene

This gene is overexpressed in Frontal cortex (40.3), Brain (20.3), and Fetal Brain (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PRRT2 Gene

SOURCE GeneReport for Unigene cluster for PRRT2 Gene Hs.655071

genes like me logo Genes that share expression patterns with PRRT2: view

Protein tissue co-expression partners for PRRT2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PRRT2 Gene

Orthologs for PRRT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRRT2 Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia PRRT2 35
  • 88.43 (n)
  • 83.98 (a)
PRRT2 36
  • 82 (a)
(Mus musculus)
Mammalia Prrt2 35
  • 82.69 (n)
  • 78.64 (a)
Prrt2 16
Prrt2 36
  • 78 (a)
(Pan troglodytes)
Mammalia PRRT2 35
  • 99.41 (n)
  • 99.11 (a)
PRRT2 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Prrt2 35
  • 83.38 (n)
  • 78.64 (a)
(Bos Taurus)
Mammalia PRRT2 36
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia PRRT2 36
  • 32 (a)
(Anolis carolinensis)
Reptilia PRRT2 36
  • 43 (a)
(Danio rerio)
Actinopterygii PRRT2 36
  • 35 (a)
Species with no ortholog for PRRT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRRT2 Gene

Gene Tree for PRRT2 (if available)
Gene Tree for PRRT2 (if available)

Paralogs for PRRT2 Gene

Paralogs for PRRT2 Gene

genes like me logo Genes that share paralogs with PRRT2: view

Variants for PRRT2 Gene

Sequence variations from dbSNP and Humsavar for PRRT2 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs79182085 - 29,813,466(+) CAGAG(C/G/T)CTGCT reference, missense
rs79568162 - 29,813,493(+) GGCCA(C/G)ATTCC reference, missense
VAR_067012 -
rs199556853 - 29,813,763(+) ATCCA(A/G)GATCT reference, missense
VAR_067014 -

Structural Variations from Database of Genomic Variants (DGV) for PRRT2 Gene

Variant ID Type Subtype PubMed ID
nsv833186 CNV Loss 17160897
dgv2667n71 CNV Loss 21882294
nsv827610 CNV Gain 20364138
nsv827611 CNV Gain 20364138

Variation tolerance for PRRT2 Gene

Residual Variation Intolerance Score: 55.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.18; 51.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRRT2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRRT2 Gene

Disorders for PRRT2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for PRRT2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
episodic kinesigenic dyskinesia 1
  • familial paroxysmal kinesigenic dyskinesia
convulsions, familial infantile, with paroxysmal choreoathetosis
  • infantile convulsions and paroxysmal choreoathetosis, familial
seizures, benign familial infantile, 2
  • benign familial infantile seizures 2
infantile convulsions and choreoathetosis
  • icca syndrome
familial paroxysmal kinesigenic dyskinesia
  • paroxysmal kinesigenic choreoathetosis
- elite association - COSMIC cancer census association via MalaCards
Search PRRT2 in MalaCards View complete list of genes associated with diseases


  • 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:0000269 PubMed:22243967}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:0000269 PubMed:22101681, ECO:0000269 PubMed:22120146, ECO:0000269 PubMed:22131361, ECO:0000269 PubMed: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:0000269 PubMed:22101681}.
  • 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:0000269 PubMed:22243967, ECO:0000269 PubMed:22399141, ECO:0000269 PubMed:22623405}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRRT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PRRT2: view

No data available for Genatlas for PRRT2 Gene

Publications for PRRT2 Gene

  1. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. (PMID: 22243967) Heron S.E. … Dibbens L.M. (Am. J. Hum. Genet. 2012) 2 3 4 67
  2. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. (PMID: 22101681) Chen W.J. … Wu Z.Y. (Nat. Genet. 2011) 2 3
  3. A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE. (PMID: 26797119) Rossi P. … Benfenati F. (J. Biol. Chem. 2016) 3
  4. [Analysis of PRRT2 gene mutations in a Chinese family affected with paroxysmal kinesigenic dyskinesia]. (PMID: 26829736) Zhang H. … Liao S. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016) 3
  5. Severe phenotypic spectrum of biallelic mutations in PRRT2 gene. (PMID: 25595153) Delcourt M. … Roubertie A. (J. Neurol. Neurosurg. Psychiatr. 2015) 3

Products for PRRT2 Gene

Sources for PRRT2 Gene