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 foun... See more...

Aliases for PRRT2 Gene

Aliases for PRRT2 Gene

  • Proline Rich Transmembrane Protein 2 2 3 5
  • Proline-Rich Transmembrane Protein 2 2 3 4
  • Dispanin Subfamily B Member 3 2 3 4
  • Interferon Induced Transmembrane Protein Domain Containing 1 2 3
  • Infantile Convulsions And Paroxysmal Choreoathetosis 2 3
  • 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 ENSG00000280893.

UniProtKB/Swiss-Prot Summary for PRRT2 Gene

  • As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and downregulate short-term facilitation.

Gene Wiki entry for PRRT2 Gene

Additional gene information for PRRT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRRT2 Gene

Genomics for PRRT2 Gene

GeneHancer (GH) Regulatory Elements for PRRT2 Gene

Promoters and enhancers for PRRT2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRRT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRRT2

Top Transcription factor binding sites by QIAGEN in the PRRT2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • c-Myb
  • p53
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for PRRT2 Gene

Genomic Locations for PRRT2 Gene
chr16:29,811,382-29,815,892
(GRCh38/hg38)
Size:
4,511 bases
Orientation:
Plus strand
chr16:29,823,177-29,827,202
(GRCh37/hg19)
Size:
4,026 bases
Orientation:
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:
    Q7Z6L0-PRRT2_HUMAN
    Recommended name:
    Proline-rich transmembrane protein 2
    Protein Accession:
    Q7Z6L0
    Secondary Accessions:
    • A8K8M8
    • Q8N2N8
    • Q8NAQ7
    • Q8ND36
    • Q96FA8

    Protein attributes for PRRT2 Gene

    Size:
    340 amino acids
    Molecular mass:
    34945 Da
    Quaternary structure:
    • Component of the outer core of AMPAR complex (PubMed:25915028). 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). Interacts with intersectin 1/ITSN1 (By similarity). Interacts with SNARE complex components, including SNAP25, STX1A, SYT1 and SYT2; this interaction may inhibit SNARE complex formation (PubMed:25915028, PubMed:22832103).

    Alternative splice isoforms for PRRT2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRRT2 Gene

Post-translational modifications for PRRT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PRRT2 Gene

Domains & Families for PRRT2 Gene

Gene Families for PRRT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for PRRT2 Gene

Blocks:
  • Interferon-induced transmembrane protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRRT2 Gene

GenScript: Design optimal peptide antigens:
  • Proline-rich transmembrane protein 2 (PRRT2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z6L0

UniProtKB/Swiss-Prot:

PRRT2_HUMAN :
  • Belongs to the CD225/Dispanin family.
Family:
  • Belongs to the CD225/Dispanin family.
genes like me logo Genes that share domains with PRRT2: view

Function for PRRT2 Gene

Molecular function for PRRT2 Gene

UniProtKB/Swiss-Prot Function:
As a component of the outer core of AMPAR complex, may be involved in synaptic transmission in the central nervous system. In hippocampal neurons, in presynaptic terminals, plays an important role in the final steps of neurotransmitter release, possibly by regulating Ca(2+)-sensing. In the cerebellum, may inhibit SNARE complex formation and downregulate short-term facilitation.

Phenotypes From GWAS Catalog for PRRT2 Gene

Gene Ontology (GO) - Molecular Function for PRRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017075 syntaxin-1 binding ISS --
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with PRRT2: view
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:
  • Prrt2 Prrt2<tm1a(KOMP)Wtsi>
  • Prrt2 Prrt2<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for PRRT2 Gene

miRTarBase miRNAs that target PRRT2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRRT2 Gene

Localization for PRRT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRRT2 Gene

Cell membrane. Cell junction, synapse, presynaptic cell membrane. Cell junction, synapse. Cell projection, axon. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Cell junction, synapse, postsynaptic density membrane. Cell projection, dendritic spine.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRRT2 gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
GO:0008021 synaptic vesicle ISS --
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IBA 21873635
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PRRT2: view

Pathways & Interactions for PRRT2 Gene

PathCards logo

SuperPathways for PRRT2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031629 synaptic vesicle fusion to presynaptic active zone membrane ISS --
GO:0035544 negative regulation of SNARE complex assembly ISS --
GO:0050884 neuromuscular process controlling posture IMP 22101681
GO:0099502 calcium-dependent activation of synaptic vesicle fusion IEA --
GO:1905513 negative regulation of short-term synaptic potentiation ISS --
genes like me logo Genes that share ontologies with PRRT2: view

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

mRNA/cDNA for PRRT2 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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: - -
SP6:

Relevant External Links for PRRT2 Gene

GeneLoc Exon Structure for
PRRT2

Expression for PRRT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for PRRT2 Gene



Protein tissue co-expression partners for PRRT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRRT2

SOURCE GeneReport for Unigene cluster for PRRT2 Gene:

Hs.655071

Evidence on tissue expression from TISSUES for PRRT2 Gene

  • Nervous system(5)
  • Eye(4.1)
  • Liver(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRRT2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • mouth
  • neck
  • pharynx
Thorax:
  • diaphragm
  • esophagus
  • lung
Abdomen:
  • stomach
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with PRRT2: view

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
chimpanzee
(Pan troglodytes)
Mammalia PRRT2 31 30
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRRT2 31 30
  • 88.43 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prrt2 30
  • 83.38 (n)
mouse
(Mus musculus)
Mammalia Prrt2 17 31 30
  • 82.69 (n)
cow
(Bos Taurus)
Mammalia PRRT2 31
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRRT2 31
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRRT2 31
  • 43 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PRRT2 31
  • 35 (a)
OneToOne
Species where no ortholog for PRRT2 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for PRRT2 (if available)
TreeFam:
Gene Tree for PRRT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRRT2: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRRT2 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
31173 Pathogenic: Seizures, benign familial infantile, 2 29,813,938(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
639189 Uncertain Significance: Paroxysmal kinesigenic dyskinesia 29,814,631(+) A/G MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
639782 Uncertain Significance: Paroxysmal kinesigenic dyskinesia 29,813,925(+) G/A MISSENSE_VARIANT
640387 Pathogenic: Paroxysmal kinesigenic dyskinesia 29,813,353(+) GC/G FRAMESHIFT_VARIANT
641115 Uncertain Significance: Paroxysmal kinesigenic dyskinesia 29,813,487(+) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PRRT2 Gene

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

Variant ID Type Subtype PubMed ID
nsv827610 CNV gain 20364138
nsv827611 CNV gain 20364138
nsv833186 CNV loss 17160897
nsv953800 CNV deletion 24416366

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)

Additional Variant Information for PRRT2 Gene

Human Gene Mutation Database (HGMD)
PRRT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRRT2

SNP Genotyping and Copy Number Assay Products

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

Disorders for PRRT2 Gene

MalaCards: The human disease database

(49) MalaCards diseases for PRRT2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PRRT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRRT2_HUMAN
  • 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, ECO:0000269 PubMed:25915028, ECO:0000269 PubMed:27172900}. 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 cytoplasm (PubMed:22101681). {ECO:0000269 PubMed: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:0000269 PubMed:22243967, ECO:0000269 PubMed:22832103}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Seizures, benign familial infantile, 2 (BFIS2) [MIM:605751]: A form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS2 inheritance is autosomal dominant. {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.

Additional Disease Information for PRRT2

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 SE … Dibbens LM (American journal of human genetics 2012) 2 3 4 54
  2. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. (PMID: 22101681) Chen WJ … Wu ZY (Nature genetics 2011) 2 3 4 54
  3. PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly. (PMID: 29346777) Coleman J … Krishnakumar SS (Cell reports 2018) 2 3 54
  4. PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects. (PMID: 27172900) Liu YT … Tsai JW (Oncotarget 2016) 3 4 54
  5. PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling. (PMID: 25915028) Li M … Liu Y (International journal of molecular sciences 2015) 3 4 54

Products for PRRT2 Gene