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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
  • Dispanin Subfamily B Member 3 3 4
  • BFIC2 3 6
  • BFIS2 3 6
  • DYT10 3 6
  • DSPB3 3 4
  • EKD1 3 6
  • ICCA 3 6
  • PKC 3 6
  • IFITMD1 3
  • FICCA 3

External Ids for PRRT2 Gene

Previous Symbols for PRRT2 Gene

  • ICCA

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 familial paroxysmal kinesigenic dyskinesia and episodic kinesigenic dyskinesia 1. Among its related pathways are Nifedipine Activity. 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

Genomic Location for PRRT2 Gene

Start:
29,811,856 bp from pter
End:
29,815,881 bp from pter
Size:
4,026 bases
Orientation:
Plus strand

Genomic View for PRRT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PRRT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRRT2 Gene

Regulatory Elements 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

Proteomics data for PRRT2 Gene at MOPED

Post-translational modifications for PRRT2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn53

Other Protein References for PRRT2 Gene

No data available for DME Specific Peptides for PRRT2 Gene

Domains for PRRT2 Gene

Gene Families for PRRT2 Gene

HGNC:
  • PRRT :Proline-rich transmembrane proteins

Protein Domains for PRRT2 Gene

UniProtKB/Swiss-Prot:

PRRT2_HUMAN
Family:
  • Belongs to the CD225/Dispanin family.:
    • Q7Z6L0
genes like me logo Genes that share domains with PRRT2: view

Function for PRRT2 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for PRRT2 Gene COMPARTMENTS Subcellular localization image for PRRT2 gene
Compartment Confidence
plasma membrane 5
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PRRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane --
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 for PRRT2 Gene

SuperPathways for PRRT2 Gene

Superpath Contained pathways
1 Nifedipine Activity
genes like me logo Genes that share pathways with PRRT2: view

Pathways by source for PRRT2 Gene

1 BioSystems pathway for PRRT2 Gene

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

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: - -
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 for PRRT2 Gene

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

This gene is overexpressed in Brain - Cerebellum (6.8) and Brain - Cerebellar Hemisphere (6.2).

Integrated Proteomics: protein expression 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 expressions with PRRT2: view

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 36
  • 99.41 (n)
  • 99.11 (a)
PRRT2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PRRT2 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRRT2 36
  • 88.43 (n)
  • 83.98 (a)
PRRT2 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prrt2 36
  • 82.69 (n)
  • 78.64 (a)
Prrt2 16
Prrt2 37
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRRT2 37
  • 32 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prrt2 36
  • 83.38 (n)
  • 78.64 (a)
lizard
(Anolis carolinensis)
Reptilia PRRT2 37
  • 43 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii PRRT2 37
  • 35 (a)
OneToOne
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

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 MAF
rs8054524 -- 29,812,021(+) GCGTC(C/T)CTCCT upstream-variant-2KB
rs11150573 Benign 29,813,805(+) CCCAG(C/T)TGGCA reference, synonymous-codon
rs11556730 -- 29,813,306(+) CAGGC(A/C)ACAGA synonymous-codon, reference
rs11556731 -- 29,813,461(+) AGCCC(C/G)AGAGC reference, missense
rs11556732 -- 29,813,187(+) ACCAG(C/T)CAGAG reference, missense

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

Relevant External Links for PRRT2 Gene

HapMap Linkage Disequilibrium report
PRRT2
Human Gene Mutation Database (HGMD)
PRRT2

Disorders for PRRT2 Gene

(3) OMIM Diseases for PRRT2 Gene (614386)

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}. 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}.
  • 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.
  • 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.

(3) University of Copenhagen DISEASES for PRRT2 Gene

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

Publications for PRRT2 Gene

  1. 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
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. (PMID: 22120146) Wang J.L. … Tang B.S. (Brain 2011) 3 4
  5. 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

Products for PRRT2 Gene

Sources for PRRT2 Gene

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