| HGNC Family | Proline-rich transmembrane proteins (PRRT) |
| Name | proline-rich transmembrane protein 2 |
| Description | 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] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nPRRT2 is a gene recently identified as the principal causative factor in a broad spectrum of paroxysmal neurological disorders—including paroxysmal kinesigenic dyskinesia, benign familial infantile epilepsy, and infantile convulsions with choreoathetosis—in diverse populations. Mutation studies using whole‐exome sequencing and linkage analyses have shown that most disease‐associated alterations are truncating or frame‐shift changes, resulting in a loss‐of‐function (haploinsufficiency) state. The PRRT2 protein, which is comprised of 340 amino acids and contains two predicted transmembrane domains, is highly expressed in the developing nervous system. Its normal subcellular localization appears critical for proper function, and mislocalization induced by these mutations correlates with the varied age‐ and region‐dependent clinical phenotypes observed in patients."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "25"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFunctional studies have provided key insights into the molecular role of PRRT2. Under physiological conditions, PRRT2 localizes predominantly to axonal and presynaptic compartments where it interacts with core components of the neurotransmitter release machinery. Notably, through its weak association with synaptic SNARE proteins (such as SNAP25), PRRT2 is thought to negatively regulate the assembly of the trans‐SNARE complex and thereby control synaptic vesicle priming. In parallel, PRRT2 has been shown to diminish the membrane exposure and modify the biophysical properties of voltage‐gated sodium channels (especially Nav1.2 and Nav1.6), inducing shifts in the voltage dependence of inactivation and delaying recovery. These combined actions help restrain neuronal excitability and prevent hyperactivity, offering a unifying mechanism for the paroxysmal clinical manifestations observed when PRRT2 is mutated."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "26", "end_ref": "47"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Wan-Jin Chen, Yu Lin, Zhi-Qi Xiong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.1008"}], "href": "https://doi.org/10.1038/ng.1008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22101681"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22101681"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Jun-Ling Wang, Li Cao, Xun-Hua Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awr289"}], "href": "https://doi.org/10.1093/brain/awr289"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22120146"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22120146"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Sarah E Heron, Bronwyn E Grinton, Sara Kivity, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2011.12.003"}], "href": "https://doi.org/10.1016/j.ajhg.2011.12.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22243967"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22243967"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Hsien-Yang Lee, Yong Huang, Nadine Bruneau, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2011.11.001"}], "href": "https://doi.org/10.1016/j.celrep.2011.11.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22832103"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22832103"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Darius Ebrahimi-Fakhari, Afshin Saffari, Ana Westenberger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The evolving spectrum of PRRT2-associated paroxysmal diseases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awv317"}], "href": "https://doi.org/10.1093/brain/awv317"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26598493"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26598493"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Alice R Gardiner, Kailash P Bhatia, Maria Stamelou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0b013e3182752c5a"}], "href": "https://doi.org/10.1212/WNL.0b013e3182752c5a"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23077024"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23077024"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Alice R Gardiner, Fatima Jaffer, Russell C Dale, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The clinical and genetic heterogeneity of paroxysmal dyskinesias."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awv310"}], "href": "https://doi.org/10.1093/brain/awv310"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26598494"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26598494"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Federico Zara, Nicola Specchio, Pasquale Striano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsia (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/epi.12089"}], "href": "https://doi.org/10.1111/epi.12089"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23360469"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23360469"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Floriana Fruscione, Pierluigi Valente, Bruno Sterlini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awy051"}], "href": "https://doi.org/10.1093/brain/awy051"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29554219"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29554219"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Carla Marini, Valerio Conti, Davide Mei, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0b013e3182752ca2"}], "href": "https://doi.org/10.1212/WNL.0b013e3182752ca2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23077026"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23077026"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Florence Riant, Emmanuel Roze, Cecile Barbance, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 mutations cause hemiplegic migraine."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0b013e3182752cb8"}], "href": "https://doi.org/10.1212/WNL.0b013e3182752cb8"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23077016"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23077016"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Aurélie Méneret, David Grabli, Christel Depienne, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0b013e31825f06c3"}], "href": "https://doi.org/10.1212/WNL.0b013e31825f06c3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22744660"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22744660"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "A Méneret, C Gaudebout, F Riant, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 mutations and paroxysmal disorders."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Neurol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/ene.12104"}], "href": "https://doi.org/10.1111/ene.12104"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23398397"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23398397"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Russell C Dale, Alice Gardiner, Jayne Antony, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Med Child Neurol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1469-8749.2012.04394.x"}], "href": "https://doi.org/10.1111/j.1469-8749.2012.04394.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22845787"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22845787"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Jingyun Li, Xilin Zhu, Xin Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2011-100635"}], "href": "https://doi.org/10.1136/jmedgenet-2011-100635"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22131361"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22131361"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Qing Liu, Zhan Qi, Xin-Hua Wan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2011-100653"}], "href": "https://doi.org/10.1136/jmedgenet-2011-100653"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22209761"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22209761"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Julian Schubert, Roberta Paravidino, Felicitas Becker, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 mutations are the major cause of benign familial infantile seizures."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.22126"}], "href": "https://doi.org/10.1002/humu.22126"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22623405"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22623405"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Sarah E Heron, Leanne M Dibbens "}, {"type": "b", "children": [{"type": "t", "text": "Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2012-101406"}], "href": "https://doi.org/10.1136/jmedgenet-2012-101406"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23343561"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23343561"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Robin Cloarec, Nadine Bruneau, Gabrielle Rudolf, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0b013e3182752c46"}], "href": "https://doi.org/10.1212/WNL.0b013e3182752c46"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23077017"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23077017"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Rianne van Vliet, Guido Breedveld, Johanneke de Rijk-van Andel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0b013e3182661fe3"}], "href": "https://doi.org/10.1212/WNL.0b013e3182661fe3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22875091"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22875091"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Angelo Labate, Patrizia Tarantino, Maurizio Viri, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsia (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/epi.12009"}], "href": "https://doi.org/10.1111/epi.12009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23126439"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23126439"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Shinji Ono, Koh-ichiro Yoshiura, Akira Kinoshita, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/jhg.2012.23"}], "href": "https://doi.org/10.1038/jhg.2012.23"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22399141"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22399141"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Ingrid E Scheffer, Bronwyn E Grinton, Sarah E Heron, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0b013e3182752c6c"}], "href": "https://doi.org/10.1212/WNL.0b013e3182752c6c"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23077018"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23077018"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Marion Delcourt, Florence Riant, Josette Mancini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Severe phenotypic spectrum of biallelic mutations in PRRT2 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Neurosurg Psychiatry (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jnnp-2014-309025"}], "href": "https://doi.org/10.1136/jnnp-2014-309025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25595153"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25595153"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Xiao-Jun Huang, Tian Wang, Jun-Ling Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0000000000002079"}], "href": "https://doi.org/10.1212/WNL.0000000000002079"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26446061"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26446061"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Jeff Coleman, Ouardane Jouannot, Sathish K Ramakrishnan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2017.12.056"}], "href": "https://doi.org/10.1016/j.celrep.2017.12.056"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29346777"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29346777"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Felicitas Becker, Julian Schubert, Pasquale Striano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2-related disorders: further PKD and ICCA cases and review of the literature."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00415-012-6777-y"}], "href": "https://doi.org/10.1007/s00415-012-6777-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23299620"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23299620"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Ming Li, Fenghe Niu, Xilin Zhu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Mol Sci (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/ijms16059134"}], "href": "https://doi.org/10.3390/ijms16059134"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25915028"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25915028"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Sarra Dimassi, Audrey Labalme, Gaetan Lesca, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsia (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/epi.12502"}], "href": "https://doi.org/10.1111/epi.12502"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24372385"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24372385"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Yo-Tsen Liu, Fang-Shin Nian, Wan-Ju Chou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Oncotarget (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.18632/oncotarget.9258"}], "href": "https://doi.org/10.18632/oncotarget.9258"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27172900"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27172900"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Yi-Chung Lee, Ming-Jen Lee, Hsiang-Yu Yu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0038543"}], "href": "https://doi.org/10.1371/journal.pone.0038543"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22870186"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22870186"}]}, {"type": "r", "ref": 32, "children": [{"type": "t", "text": "Alexander J A Groffen, Thom Klapwijk, Anne-Fleur van Rootselaar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00415-012-6592-5"}], "href": "https://doi.org/10.1007/s00415-012-6592-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22752065"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22752065"}]}, {"type": "r", "ref": 33, "children": [{"type": "t", "text": "X-R Liu, M Wu, N He, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Brain Behav (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/gbb.12008"}], "href": "https://doi.org/10.1111/gbb.12008"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23190448"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23190448"}]}, {"type": "r", "ref": 34, "children": [{"type": "t", "text": "Laura Silveira-Moriyama, Alice R Gardiner, Esther Meyer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Dev Med Child Neurol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/dmcn.12056"}], "href": "https://doi.org/10.1111/dmcn.12056"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23363396"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23363396"}]}, {"type": "r", "ref": 35, "children": [{"type": "t", "text": "L C S Tan, K Methawasin, E W L Teng, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Neurol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/ene.12142"}], "href": "https://doi.org/10.1111/ene.12142"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23551744"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23551744"}]}, {"type": "r", "ref": 36, "children": [{"type": "t", "text": "Akihisa Okumura, Keiko Shimojima, Tetsuo Kubota, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 mutation in Japanese children with benign infantile epilepsy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Dev (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.braindev.2012.09.015"}], "href": "https://doi.org/10.1016/j.braindev.2012.09.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23131349"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23131349"}]}, {"type": "r", "ref": 37, "children": [{"type": "t", "text": "Tania Djémié, Sarah Weckhuysen, Philip Holmgren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 mutations: exploring the phenotypical boundaries."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Neurosurg Psychiatry (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jnnp-2013-305122"}], "href": "https://doi.org/10.1136/jnnp-2013-305122"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24101679"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24101679"}]}, {"type": "r", "ref": 38, "children": [{"type": "t", "text": "Florence Riant, Caroline Roos, Agathe Roubertie, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hemiplegic Migraine Associated With "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "PRRT2"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Variations: A Clinical and Genetic Study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurology (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1212/WNL.0000000000012947"}], "href": "https://doi.org/10.1212/WNL.0000000000012947"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34649875"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34649875"}]}, {"type": "r", "ref": 39, "children": [{"type": "t", "text": "Carlo Nobile, Pasquale Striano "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Prog Brain Res (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/B978-0-444-63326-2.00008-9"}], "href": "https://doi.org/10.1016/B978-0-444-63326-2.00008-9"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25194488"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25194488"}]}, {"type": "r", "ref": 40, "children": [{"type": "t", "text": "Cheng-Yuan Mao, Chang-He Shi, Bo Song, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genotype-phenotype correlation in a cohort of paroxysmal kinesigenic dyskinesia cases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Sci (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jns.2014.02.034"}], "href": "https://doi.org/10.1016/j.jns.2014.02.034"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24661410"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24661410"}]}, {"type": "r", "ref": 41, "children": [{"type": "t", "text": "Kang Wang, Xiaoyu Zhao, Yue Du, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Dev (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.braindev.2012.07.018"}], "href": "https://doi.org/10.1016/j.braindev.2012.07.018"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22902309"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22902309"}]}, {"type": "r", "ref": 42, "children": [{"type": "t", "text": "Angelo Labate, Patrizia Tarantino, Grazia Palamara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutations in PRRT2 result in familial infantile seizures with heterogeneous phenotypes including febrile convulsions and probable SUDEP."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Epilepsy Res (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.eplepsyres.2012.10.014"}], "href": "https://doi.org/10.1016/j.eplepsyres.2012.10.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23352743"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23352743"}]}, {"type": "r", "ref": 43, "children": [{"type": "t", "text": "Atsushi Ishii, Sawa Yasumoto, Yukiko Ihara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain Dev (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.braindev.2012.09.006"}], "href": "https://doi.org/10.1016/j.braindev.2012.09.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23073245"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23073245"}]}, {"type": "r", "ref": 44, "children": [{"type": "t", "text": "Peter Hedera, Jianfeng Xiao, Andreas Puschmann, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Neurol (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2377-12-93"}], "href": "https://doi.org/10.1186/1471-2377-12-93"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22985072"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22985072"}]}, {"type": "r", "ref": 45, "children": [{"type": "t", "text": "Hong-Fu Li, Wang Ni, Zhi-Qi Xiong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 c.649dupC mutation derived from de novo in paroxysmal kinesigenic dyskinesia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "CNS Neurosci Ther (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cns.12034"}], "href": "https://doi.org/10.1111/cns.12034"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23176561"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23176561"}]}, {"type": "r", "ref": 46, "children": [{"type": "t", "text": "ChunYan Luo, Yongping Chen, Wei Song, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation: altered brain activity by PRRT2 mutation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurol Sci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10072-013-1408-7"}], "href": "https://doi.org/10.1007/s10072-013-1408-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23532549"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23532549"}]}, {"type": "r", "ref": 47, "children": [{"type": "t", "text": "Li Wu, Hui-Dong Tang, Xiao-Jun Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Parkinsonism Relat Disord (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.parkreldis.2014.10.012"}], "href": "https://doi.org/10.1016/j.parkreldis.2014.10.012"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25457817"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25457817"}]}]}]}
|
| Synonyms | PKC, ICCA, DYT10, FICCA, BFIC2, DSPB3, BFIS2, EKD1, IFITMD1 |
| Proteins | PRRT2_HUMAN |
| NCBI Gene ID | 112476 |
| API | |
| Download Associations | |
| Predicted Functions |
 |
| Co-expressed Genes |
|
| Expression in Tissues and Cell Lines |
|
PRRT2 has 4,930 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 100 datasets.
Click the + buttons to view associations for PRRT2 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of PRRT2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of PRRT2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of PRRT2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of PRRT2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of PRRT2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of PRRT2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of PRRT2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with PRRT2 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of PRRT2 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of PRRT2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of PRRT2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations | phenotypes associated with PRRT2 gene from the curated ClinVar Gene-Phenotype Associations dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with PRRT2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of PRRT2 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| CM4AI U2OS Cell Map Protein Localization Assemblies | assemblies containing PRRT2 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing PRRT2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing PRRT2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with PRRT2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with PRRT2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of PRRT2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| COSMIC Cell Line Gene Mutation Profiles | cell lines with PRRT2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
| CTD Gene-Disease Associations | diseases associated with PRRT2 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by PRRT2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DGIdb Drug Targets 2026 | interacting drugs for PRRT2 protein from the DGIdb Drug Targets 2026 dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores | diseases involving PRRT2 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving PRRT2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with PRRT2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with PRRT2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with PRRT2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with PRRT2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with PRRT2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at PRRT2 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of PRRT2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of PRRT2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing PRRT2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with PRRT2 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing PRRT2 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of PRRT2 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of PRRT2 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of PRRT2 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of PRRT2 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of PRRT2 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of PRRT2 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2015 | biological processes involving PRRT2 gene from the curated GO Biological Process Annotations 2015 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving PRRT2 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving PRRT2 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2015 | cellular components containing PRRT2 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing PRRT2 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing PRRT2 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by PRRT2 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by PRRT2 gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of PRRT2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of PRRT2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of PRRT2 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of PRRT2 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of PRRT2 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of PRRT2 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of PRRT2 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of PRRT2 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of PRRT2 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPO Gene-Disease Associations | phenotypes associated with PRRT2 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with PRRT2 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by PRRT2 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| InterPro Predicted Protein Domain Annotations | protein domains predicted for PRRT2 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of PRRT2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of PRRT2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of PRRT2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of PRRT2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of PRRT2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with PRRT2 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of PRRT2 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain PRRT2 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by PRRT2 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of PRRT2 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of PRRT2 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of PRRT2 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
| OMIM Gene-Disease Associations | phenotypes associated with PRRT2 gene from the curated OMIM Gene-Disease Associations dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for PRRT2 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of PRRT2 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving PRRT2 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving PRRT2 protein from the Wikipathways PFOCR 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of PRRT2 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of PRRT2 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at PRRT2 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of PRRT2 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of PRRT2 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of PRRT2 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| SynGO Synaptic Gene Annotations | synaptic terms associated with PRRT2 gene from the SynGO Synaptic Gene Annotations dataset. | |
| Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of PRRT2 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of PRRT2 gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of PRRT2 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
| TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of PRRT2 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of PRRT2 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of PRRT2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of PRRT2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of PRRT2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of PRRT2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with PRRT2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with PRRT2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
| WikiPathways Pathways 2024 | pathways involving PRRT2 protein from the WikiPathways Pathways 2024 dataset. | |
