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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
External Ids for PRRT2 Gene
- HGNC: 30500
- Entrez Gene: 112476
- Ensembl: ENSG00000167371
- OMIM: 614386
- UniProtKB: Q7Z6L0
Previous HGNC Symbols for PRRT2 Gene
- ICCA
- DYT10
Previous GeneCards Identifiers for PRRT2 Gene
- GC16P029732
- GC16P029733
- GC16P029823
- GC16P027484
Summaries 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.
Additional gene information for PRRT2 Gene
- HGNC(30500)
- Entrez Gene(112476)
- Ensembl(ENSG00000167371)
- OMIM(614386)
- UniProtKB(Q7Z6L0)
- Open Targets Platform(ENSG00000167371)
- Monarch Initiative
- Search for PRRT2 at DataMed
- Search for PRRT2 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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
- chr16:29,811,382-29,815,920
- (GRCh38/hg38)
- Size:
- 4,539 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:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
PRRT2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for PRRT2 Gene
Post-translational modifications for PRRT2 Gene
Other Protein References for PRRT2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences PRRT2 Antibody
- Novus Biologicals Antibodies for PRRT2
-
Abcam antibodies for PRRT2
- Invitrogen Antibodies for PRRT2 (AFLGC-PRRT2)
-
Custom Antibody ServicesProSci Antibodies for PRRT2
Protein Products
-
OriGene Purified Proteins for PRRT2
- Search Origene for MassSpec and Protein Over-expression Lysates for PRRT2
- Origene Custom Protein Services for PRRT2
- ProSpec Recombinant Proteins for PRRT2
- antibodies-online: Show 7 available PRRT2 Proteins ranked by validation data
- Compare Top PRRT2 Proteins
-
Quality Products:
-
Abcam proteins for PRRT2
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
- InterPro:
- Blocks:
-
- Interferon-induced transmembrane protein
- 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- Family:
-
- Belongs to the CD225/Dispanin family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0017075 | syntaxin-1 binding | ISS | -- |
| GO:0017124 | SH3 domain binding | IEA | -- |
Phenotypes for PRRT2 Gene
- MGI mutant phenotypes for PRRT2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for PRRT2:
Animal Models for PRRT2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PRRT2 - Select products 50% OFF >
- * PRRT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PRRT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PRRT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRRT2
miRNA for PRRT2 Gene
- miRTarBase miRNAs that target PRRT2
-
- hsa-miR-133a-3p (MIRT490039)
- hsa-miR-6741-5p (MIRT490040)
- hsa-miR-4701-3p (MIRT490041)
- hsa-miR-6736-5p (MIRT490042)
- hsa-miR-1262 (MIRT490043)
- hsa-miR-7977 (MIRT490044)
- hsa-miR-4669 (MIRT490045)
- hsa-miR-323a-5p (MIRT490046)
- hsa-miR-4281 (MIRT490047)
- hsa-miR-609 (MIRT490048)
- hsa-miR-4455 (MIRT490049)
- hsa-miR-6772-5p (MIRT490050)
- hsa-miR-4483 (MIRT490051)
- hsa-miR-1293 (MIRT490052)
- hsa-miR-6766-5p (MIRT490053)
- hsa-miR-6756-5p (MIRT490054)
- hsa-miR-6745 (MIRT490055)
- hsa-miR-4725-5p (MIRT490056)
- hsa-miR-363-5p (MIRT490057)
- hsa-miR-6776-5p (MIRT490058)
- hsa-miR-6742-3p (MIRT490059)
- hsa-miR-6791-5p (MIRT490060)
- hsa-miR-4292 (MIRT490061)
- hsa-miR-4530 (MIRT490062)
- hsa-miR-504-5p (MIRT490063)
- hsa-miR-6887-5p (MIRT490064)
- hsa-miR-6795-5p (MIRT490065)
- hsa-miR-7111-5p (MIRT490066)
- hsa-miR-6870-5p (MIRT490067)
- hsa-miR-5698 (MIRT490068)
- hsa-miR-6825-5p (MIRT490069)
- hsa-miR-4723-5p (MIRT490070)
- hsa-miR-3175 (MIRT490071)
- hsa-miR-6883-5p (MIRT490072)
- hsa-miR-6785-5p (MIRT490073)
- hsa-miR-4728-5p (MIRT490074)
- hsa-miR-149-3p (MIRT490075)
- hsa-miR-4644 (MIRT490076)
- hsa-miR-4306 (MIRT490077)
- hsa-miR-185-5p (MIRT490078)
- hsa-miR-6794-5p (MIRT490079)
- hsa-miR-4716-3p (MIRT490080)
- hsa-miR-483-5p (MIRT490081)
- hsa-miR-4428 (MIRT490082)
- hsa-miR-8080 (MIRT490083)
- hsa-miR-5196-5p (MIRT569943)
- hsa-miR-4747-5p (MIRT569944)
- hsa-miR-4533 (MIRT569945)
- hsa-miR-9500 (MIRT569946)
- hsa-miR-6873-5p (MIRT569947)
- hsa-miR-30a-5p (MIRT735442)
- hsa-miR-125a-3p (MIRT761671)
- hsa-miR-3148 (MIRT765014)
- hsa-miR-3154 (MIRT765055)
- hsa-miR-3194-5p (MIRT765486)
- hsa-miR-3934-5p (MIRT767839)
- hsa-miR-4690-3p (MIRT771086)
- hsa-miR-4772-5p (MIRT772217)
- hsa-miR-5685 (MIRT774972)
- hsa-miR-6124 (MIRT775789)
- hsa-miR-7515 (MIRT781736)
- hsa-miR-764 (MIRT781814)
- hsa-miR-1281 (MIRT783367)
- hsa-miR-3065-5p (MIRT784490)
- hsa-miR-4675 (MIRT786381)
- hsa-miR-4741 (MIRT786585)
- hsa-miR-495-3p (MIRT786910)
- hsa-miR-5193 (MIRT787217)
- hsa-miR-5688 (MIRT787742)
- hsa-miR-6791-3p (MIRT788749)
- hsa-miR-6829-3p (MIRT788979)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PRRT2
- Browse OriGene Inhibitory RNA Products For PRRT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRRT2
Clone Products
- Applied Biological Materials (abm): Clones for PRRT2 - Select products 50% OFF >
- * PRRT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PRRT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PRRT2
Cell Line Products
-
Horizon Cell Lines for PRRT2
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. Single-pass membrane protein. Cell junction, synapse, presynaptic cell membrane. Single-pass membrane protein. Cell junction, synapse. Cell projection, axon. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Cell junction, synapse, postsynaptic density membrane. Cell projection, dendritic spine.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Plasma membrane (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IEA,IDA | -- |
| GO:0008021 | synaptic vesicle | ISS | -- |
| GO:0016020 | membrane | IBA | 21873635 |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030054 | cell junction | IEA | -- |
Pathways & Interactions for PRRT2 Gene
Interacting Proteins for PRRT2 Gene
Selected Interacting proteins:
Q7Z6L0-PRRT2_HUMAN
ENSP00000456226
for PRRT2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PRRT2
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for PRRT2 Gene
Drugs & Compounds for PRRT2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| bryostatin | Pharma | inhibitor | 0 |
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 :
-
- ENST00000300797 3002 nts (view in UCSC)
- ENST00000358758 2462 nts (view in UCSC)
- ENST00000562148 564 nts (view in UCSC)
- ENST00000567551 644 nts (view in UCSC)
- ENST00000567659 1470 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for PRRT2 - Select products 50% OFF >
- * PRRT2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for PRRT2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PRRT2
-
Santa Cruz Biotechnology (SCBT) CRISPR for PRRT2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PRRT2
- Browse OriGene Inhibitory RNA Products For PRRT2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRRT2
Clone Products
- Applied Biological Materials (abm): Clones for PRRT2 - Select products 50% OFF >
- * PRRT2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for PRRT2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PRRT2
| 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 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).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRRT2
SOURCE GeneReport for Unigene cluster for PRRT2 Gene:
Hs.655071Evidence on tissue expression from TISSUES for PRRT2 Gene
- Nervous system(5)
- Eye(4.3)
- Liver(3.1)
- Intestine(2.5)
- Gall bladder(2.2)
- Kidney(2.1)
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
Primer Products
-
OriGene qPCR primer pairs for PRRT2
-
OriGene qPCR primer pairs and template standards for PRRT2
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PRRT2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PRRT2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Prrt2 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Prrt2 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PRRT2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | PRRT2 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PRRT2 31 |
|
OneToOne | |
| Zebrafish (Danio rerio) |
Actinopterygii | PRRT2 31 |
|
OneToOne |
- Species where no ortholog for PRRT2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRRT2 Gene
Disorders for PRRT2 Gene
(53) MalaCards diseases for PRRT2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| episodic kinesigenic dyskinesia 1 |
|
|
| convulsions, familial infantile, with paroxysmal choreoathetosis |
|
|
| seizures, benign familial infantile, 2 |
|
|
| benign familial infantile epilepsy |
|
|
| paroxysmal nonkinesigenic dyskinesia 1 |
|
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
No data available for Genatlas for PRRT2 Gene
Publications for PRRT2 Gene
- 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
- Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. (PMID: 22101681) Chen WJ … Wu ZY (Nature genetics 2011) 2 3 4
- PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly. (PMID: 29346777) Coleman J … Krishnakumar SS (Cell reports 2018) 2 3
- PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects. (PMID: 27172900) Liu YT … Tsai JW (Oncotarget 2016) 3 4
- PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling. (PMID: 25915028) Li M … Liu Y (International journal of molecular sciences 2015) 3 4
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