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Prrt2
Gene Detail
Symbol

Name
ID
Prrt2
proline-rich transmembrane protein 2
MGI:1916267
Synonyms
1500031I19Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 7
69.28 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:127016771-127021211 bp, - strand
From VEGA annotation of GRCm38

  4441 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:114328  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 dog

Gene Tree: Prrt2

Human
homologs
Human Homolog PRRT2, proline-rich transmembrane protein 2
NCBI Gene ID 112476
neXtProt AC  NX_Q7Z6L0
Human Synonyms  BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC
Human Chr (Location)  16p11.2; chr16:29812088-29815881 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PRRT2
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(2) Targeted(3)
Genomic Mutations involving Prrt2 (2)
Alleles Annotated to Human Diseases(1)   
Interactions
Prrt2 interacts with 198 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
cDNA source data(24)
External Resources: GEO   Expression Atlas
Molecular
reagents
All nucleic(24) cDNA(24)
Microarray probesets(2)
Other database
links
VEGA Gene ModelOTTMUSG00000033189 (Evidence)
Ensembl Gene ModelENSMUSG00000045114 (Evidence)
Entrez Gene69017 (Evidence)
UniGene392047
Consensus CDS ProjectCCDS52405.1
International Mouse Knockout Project StatusPrrt2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033189 VEGA Gene Model | MGI Sequence Detail 4441 C57BL/6J ±  kb
transcript OTTMUST00000083061 VEGA | MGI Sequence Detail 2497 Not Applicable 
polypeptide OTTMUSP00000044573 VEGA | MGI Sequence Detail 346 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(4) UniProt(1)
Polymorphisms
SNPs within 2kb(13 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007593 Interferon-induced transmembrane protein
Protein Ontology PR:000029695 proline-rich transmembrane protein 2
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:188761 Chen WJ, et al., Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011 Dec;43(12):1252-5
All references(28)
Other
accession IDs
MGI:2141878

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/21/2014
MGI 5.20
The Jackson Laboratory