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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
Chr7:127017531-127021211 bp, - strand
From VEGA annotation of GRCm38

  3681 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

HCOP human homology predictions: PRRT2
Gene Tree: Prrt2

Human
homologs
PRRT2, proline-rich transmembrane protein 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 112476
neXtProt AC: NX_Q7Z6L0

Human Synonyms: BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC

Human Chr (Location): 16p11.2; chr16:29811394-29815881 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human PRRT2

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(2) Targeted(4)
Genomic Mutations involving Prrt2 (3)
Mutations Annotated to Human Diseases (2)   
Interactions
Prrt2 interacts with 198 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
cDNA source data(24)
Other mouse links: GEO   Expression Atlas
Other vertebrate links: Xenbase prrt2 ; ZFIN prrt2    NEW 
Molecular
reagents
All nucleic(24) cDNA(24)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000033189 (Evidence)
Ensembl Gene Model ENSMUSG00000045114 (Evidence)
Entrez Gene 69017 (Evidence)
UniGene 392047
Consensus CDS Project CCDS52405.1
International Mouse Phenotyping Consortium Status Prrt2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033189 VEGA Gene Model | MGI Sequence Detail 3681 C57BL/6J ±  kb
transcript OTTMUST00000083061 VEGA | MGI Sequence Detail 2501 Not Applicable 
polypeptide OTTMUSP00000044573 VEGA | MGI Sequence Detail 346 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(4) UniProt(1)
Polymorphisms
SNPs within 2kb(7 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007593 CD225/Dispanin family
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(26)
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
08/25/2015
MGI 6.0
The Jackson Laboratory