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Aliases for PRRT2 Gene

Aliases for PRRT2 Gene

  • Proline Rich Transmembrane Protein 2 2 3 5
  • Interferon Induced Transmembrane Protein Domain Containing 1 2 3
  • Infantile Convulsions And Paroxysmal Choreoathetosis 2 3
  • Proline-Rich Transmembrane Protein 2 2 3
  • 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 Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis and Seizures, Benign Familial Infantile, 2. An important paralog of this gene is ENSG00000280893.

Gene Wiki entry for PRRT2 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G029803 1.5 ENCODE dbSUPER 5.3 -2.9 -2939 10.3 MLX CREB3L1 AGO1 ZFP64 DMAP1 YBX1 FEZF1 YY1 SLC30A9 ZNF416 ENSG00000260853 ENSG00000260367 NFATC2IP SMG1P2 ZNF764 ZNF785 ENSG00000261766 ZNF747 PRR14 RRN3P2
GH16G029876 1.1 Ensembl ENCODE 4.9 +65.7 65727 1.9 HDGF PKNOX1 KLF1 CBX3 SAP30 ZNF140 ZMYM3 ZNF384 FOXK2 POLR2A MVP ASPHD1 SEZ6L2 TMEM219 TAOK2 DOC2A HIRIP3 INO80E C16orf92 FAM57B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000085110 506 1401 PKNOX1 FOXA2 AGO1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766

Genomic Location for PRRT2 Gene

Chromosome:
16
Start:
29,811,382 bp from pter
End:
29,815,892 bp from pter
Size:
4,511 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. 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

    UniProtKB/Swiss-Prot:

neXtProt entry for PRRT2 Gene

Post-translational modifications for PRRT2 Gene

  • Glycosylation at Asn53
  • Modification sites at PhosphoSitePlus

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

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

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

Inhibitory RNA 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

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

Gene Ontology (GO) - Cellular Components for PRRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
GO:0045202 synapse 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0009607 response to biotic stimulus IEA --
GO:0050884 neuromuscular process controlling posture IMP 22101681
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

Unigene Clusters for PRRT2 Gene

Proline-rich transmembrane protein 2:
Representative Sequences:

Inhibitory RNA 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
ECgene alternative splicing isoforms for
PRRT2

Expression for PRRT2 Gene

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



Protein tissue co-expression partners for PRRT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRRT2 Gene:

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(2.4)

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
Organs:
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

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
chimpanzee
(Pan troglodytes)
Mammalia PRRT2 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia PRRT2 34 35
  • 88.43 (n)
rat
(Rattus norvegicus)
Mammalia Prrt2 34
  • 83.38 (n)
mouse
(Mus musculus)
Mammalia Prrt2 34 16 35
  • 82.69 (n)
cow
(Bos Taurus)
Mammalia PRRT2 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRRT2 35
  • 32 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRRT2 35
  • 43 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PRRT2 35
  • 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)

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
rs387907125 Pathogenic, Convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA) [MIM:602066] 29,814,403(+) CTTAA(A/G)CATCG upstream-variant-2KB, reference, missense, utr-variant-3-prime
rs387907128 Pathogenic, Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200] 29,813,850(+) AACCT(C/T)GGGAC reference, missense
rs767799831 Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200] 29,814,366(+) TGGAC(A/G)GGGCC upstream-variant-2KB, reference, missense, utr-variant-3-prime
VAR_067323 Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]
VAR_067324 Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]

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)

Relevant External Links for PRRT2 Gene

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

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

Disorders for PRRT2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
convulsions, familial infantile, with paroxysmal choreoathetosis
  • infantile convulsions and paroxysmal choreoathetosis, familial
seizures, benign familial infantile, 2
  • benign familial infantile seizures 2
episodic kinesigenic dyskinesia 1
  • dystonia 10
familial paroxysmal kinesigenic dyskinesia
  • paroxysmal kinesigenic choreoathetosis
benign familial infantile epilepsy
  • benign familial infantile convulsion
- 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
  • 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 cytoplasm (PubMed:22101681). {ECO:0000269 PubMed:22101681}.
  • 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.

Relevant External Links for PRRT2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 S.E. … Dibbens L.M. (Am. J. Hum. Genet. 2012) 2 3 4 64
  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 4 64
  3. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. (PMID: 22131361) Li J. … Liu Y. (J. Med. Genet. 2012) 3 4 64
  4. The dispanins: a novel gene family of ancient origin that contains 14 human members. (PMID: 22363774) Sallman Almen M. … Schioth H.B. (PLoS ONE 2012) 3 4 64
  5. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. (PMID: 22399141) Ono S. … Kurotaki N. (J. Hum. Genet. 2012) 3 4 64

Products for PRRT2 Gene

Sources for PRRT2 Gene

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