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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PRRT2 Gene

protein-coding GIFtS: 50
GCID: GC16P029823

proline-rich transmembrane protein 2

Explore 12 diseases affiliated with
PRRT2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Proline-Rich Transmembrane Protein 2¹ ²		BFIS2²
IFITMD1¹ ²		DYT10²
Dispanin Subfamily B Member 3² ³		EKD1²
DSPB3² ³		ICCA²
DKFZp547J199¹		PKC²
FLJ25513¹		Interferon Induced Transmembrane Protein Domain Containing 1²
BFIC2²

External Ids:	HGNC: 30500¹	Entrez Gene: 112476²	Ensembl: ENSG00000167371⁷	OMIM: 614386⁵	UniProtKB: Q7Z6L0³

Export aliases for PRRT2 gene to outside databases

Previous GC identifers: GC16P029732 GC16P029733 GC16P027484

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRRT2:

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)

Gene Wiki entry for PRRT2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PRRT2 gene promoter:
PPAR-gamma1 p53 AP-1 ATF-2 c-Myb c-Jun PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PRRT2 promoter sequence

Search SABiosciences Chromatin IP Primers for PRRT2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRRT2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2 Ensembl cytogenetic band: 16p11.2 HGNC cytogenetic band: 16p11.2

PRRT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRRT2 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P029823: view genomic region (about GC identifiers)

Start:	29,823,177 bp from pter	End:	29,827,202 bp from pter
Size:	4,026 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PRRT2_HUMAN, Q7Z6L0 (See protein sequence)

Recommended Name: Proline-rich transmembrane protein 2

Size: 340 amino acids; 34945 Da

Subunit: 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)

Subcellular location: Cell membrane; Multi-pass membrane protein. Cell junction, synapse (By similarity)

Secondary accessions: A8K8M8 Q8N2N8 Q8NAQ7 Q8ND36 Q96FA8

Alternative splicing: 3 isoforms: Q7Z6L0-1 Q7Z6L0-2 Q7Z6L0-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PRRT2: NX_Q7Z6L0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q7Z6L0

PRRT2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001243371.1 NP_001243372.1 NP_660282.2

ENSEMBL proteins:

ENSP00000454634 ENSP00000351608 ENSP00000456226 ENSP00000458291 ENSP00000300797

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	Novus Biologicals PRRT2 Protein Novus Biologicals PRRT2 Lysates
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	Uscn Proteins for PRRT2

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

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

PRRT2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for PRRT2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PRRT2 for domains About GeneDecksing

1 InterPro domain/family:

IPR007593 Interferon-induced_TM_protein

Graphical View of Domain Structure for InterPro Entry Q7Z6L0

ProtoNet protein and cluster: Q7Z6L0

1 Blocks protein family: IPB007593 Interferon-induced transmembrane protein

UniProtKB/Swiss-Prot: PRRT2_HUMAN, Q7Z6L0

Similarity: Belongs to the CD225/Dispanin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

miRNA Products:		OriGene 3'-UTR Clone: PRRT2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRRT2
		8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate PRRT2 (see all 44):
		hsa-miR-302d hsa-miR-520e hsa-miR-3607-3p hsa-miR-30d hsa-miR-9 hsa-miR-372 hsa-miR-30a hsa-miR-133a

		SwitchGear 3'UTR luciferase reporter plasmid: PRRT2 3' UTR sequence

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Gene Editing
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PRRT2
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRRT2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PRRT2

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for PRRT2 (Q7Z6L0^{2, 3} ENSP00000351608⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SNAP25	P60880²^,³, ENSP00000254976⁴	MINT-63925 I2D: score=5 STRING: ENSP00000254976

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0009607	response to biotic stimulus	IEA	--

PRRT2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PRRT2
Search CenterWatch for drugs/clinical trials and news about PRRT2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PRRT2 gene (3 alternative transcripts):

NM_001256442.1 NM_001256443.1 NM_145239.2

Unigene Cluster for PRRT2:

Proline-rich transmembrane protein 2

Hs.655071 [show with all ESTs]

Unigene Representative Sequence: NM_001256443

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000562148 ENST00000358758(uc002due.4) ENST00000567659 ENST00000572820

ENST00000300797(uc002dud.2 uc002duf.1) ENST00000567551

miRNA Products:		OriGene 3'-UTR Clone: PRRT2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRRT2
		8/44 QIAGEN miScript miRNA Assays for microRNAs that regulate PRRT2 (see all 44):
		hsa-miR-302d hsa-miR-520e hsa-miR-3607-3p hsa-miR-30d hsa-miR-9 hsa-miR-372 hsa-miR-30a hsa-miR-133a

		SwitchGear 3'UTR luciferase reporter plasmid: PRRT2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PRRT2 (see all 4) OriGene shRNA RFP: PRRT2 OriGene siRNA: PRRT2
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRRT2

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Additional cDNA sequence:

AK092265.1 AK098379.1 AK225785.1 AK292393.1 AL834185.1 BC011405.1 BC053594.1

10 DOTS entries:

DT.102841995 DT.95075665 DT.91653687 DT.448372 DT.100023186 DT.100722489 DT.95273483 DT.120696635

DT.100802159 DT.75149716

24/667 AceView cDNA sequences (see all 667):

AU141973 BM709873 CR619090 AI003681 AL548893 CD370597 BC015623 H65128

BU158773 BQ710912 BQ892697 BC003640 BU734236 BE616892 BM767391 CD366813

BU557841 BU175154 BQ672888 CR609250 BQ128159 AJ291367 BE563480 AI348141

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PRRT2 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2a	·	2b	^	3a	·	3b	·	3c	·	3d	^	4a	·	4b	^	5a	·	5b	^	6a	·	6b
SP1:											-						-														-
SP2:											-																				-
SP3:											-
SP4:											-										-		-
SP5:											-				-

ECgene alternative splicing isoforms for PRRT2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PRRT2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCCCGGAACA

About this image

PRRT2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

Primitive gut tube-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PRRT2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PRRT2

SOURCE GeneReport for Unigene cluster: Hs.655071

SABiosciences Custom PCR Arrays for PRRT2

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRRT2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for PRRT2 gene from 2/7 species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	PRRT2⁶	--	50(a)	1 ↔ 1	GL343279.1(202846-205620)
zebrafish (Danio rerio)	Actinopterygii	LOC100329612¹	proline-rich transmembrane protein 2-like	51.02(n) 43.88(a)		100329612 XM_002663904.1 XP_002663950.1

ENSEMBL Gene Tree for PRRT2 (if available)
TreeFam Gene Tree for PRRT2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PRRT2 gene

TMEM233² TUSC5²

PRRT2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74017629^1,2	C,F,	--	27483691(+)	`CCGCTC/ACGTCC`	1	--	nc-transcript-variant		3		WA CSA	122
rs12598797^1,2	H	--	27484043(+)	`GTTGCC/ATGGGT`	1	--	us2k¹		4		NS EA	412
rs62056369^1,2		--	27484543(+)	`CGCACC/TGCCTG`	1	--	us2k¹		2		NA	122
rs140749057^1,2		--	29823183(+)	`TCTTCC/GTTGCC`	4	--	us2k¹		0	--	--	--	--
rs12923293^1,2	C,F,H,	--	29823202(+)	`CGTAGG/AGACGC`	4	--	us2k¹		22		MN EA NS WA NA CSA	3219
rs188024630^1,2		--	29823208(+)	`GACGCC/TTCCAC`	4	--	us2k¹		0	--	--	--	--
rs8054524^1,2	C,H,	--	29823342(+)	`GCGTCC/TCTCCT`	4	--	us2k¹		8		NA WA CSA	249
rs149664682^1,2		--	29823919(+)	`GCCCAA/GGGAGG`	4	--	us2k¹ int¹		0	--	--	--	--
rs146766596^1,2		--	29823985(+)	`CTGTCA/GGAGTG`	4	--	int¹ us2k¹		0	--	--	--	--
rs191337648^1,2		--	29824028(+)	`GGGATA/CTGAGA`	4	--	int¹ us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PRRT2 (29823177 - 29827202 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for PRRT2
1 CNV: 35383
Human Gene Mutation Database (HGMD): PRRT2

SABiosciences Cancer Mutation PCR Assays

Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PRRT2

DNA2.0 Custom Variant and Variant Library Synthesis for PRRT2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PRRT2 for disorders About GeneDecksing

OMIM gene information: 614386 OMIM disorders: --

UniProtKB/Swiss-Prot: PRRT2_HUMAN, Q7Z6L0

Defects in PRRT2 are the cause of episodic kinesigenic dyskinesia type 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. Note=Disease-causing mutations that produce truncation of the

C-terminus of the protein alter subcellular location, from plasma membrane to cytosplasm (PubMed:22101681)

Defects in PRRT2 are the cause of 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

Defects in PRRT2 are the cause of seizures, benign familial infantile type 2 (BFIS2) [MIM:605751]. An

autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without

neurologic sequelae

12 diseases for PRRT2: About MalaCards

intermediate uveitis athetosis essential tremor chorioretinitis

chorea tremor uveitis paroxysmal kinesigenic choreoathetosis

paroxysmal choreoathetosis choreoathetosis benign familial infantile epilepsy convulsions

4 diseases from the University of Copenhagen DISEASES database for PRRT2:

Epilepsy syndrome Movement disease Migraine Episodic ataxia

Export disorders for PRRT2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PRRT2 gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with PRRT2)

Utopia: connect your pdf to the dynamic
world of online information

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. (PubMed id 22101681)^{1, 2, 3} Chen W.J.... Wu Z.Y. (2011)
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. (PubMed id 22399141)^{1, 2} Ono S.... Kurotaki N. (2012)
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. (PubMed id 22209761)^{1, 2} Liu Q.... Zhang X. (2012)
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. (PubMed id 22131361)^{1, 2} Li J.... Liu Y. (2012)
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. (PubMed id 22243967)^{1, 2} Heron S.E.... Dibbens L.M. (2012)
Identification of PRRT2 as the causative gene of paro xysmal kinesigenic dyskinesias. (PubMed id 22120146)^{1, 2} Wang J.L....Tang B.S. (2011)
Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)^{1, 2} Otsuki T....Isogai T. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
PRRT2 mutations cause hemiplegic migraine. (PubMed id 23077016)¹ Riant F....Tournier-Lasserve E. (2012)
Identification of a novel PRRT2 mutation in patients w ith paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot. (PubMed id 22386217)¹ Cao L....Chen S.D. (2012)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 112476	HGNC: 30500	AceView: MVPandMGC4606andLOC112476	Ensembl:ENSG00000167371	euGenes: HUgn112476
ECgene: PRRT2	H-InvDB: PRRT2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PRRT2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for PRRT2 gene
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Patent Information for PRRT2 gene:
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proline-rich transmembrane protein 2

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proline-rich transmembrane protein 2

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