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Prrt2 Gene Detail
Summary
  • Symbol
    Prrt2
  • Name
    proline-rich transmembrane protein 2
  • Synonyms
    1500031I19Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916267
    NCBI Gene: 69017
  • Gene Overview
    MyGene.info: PRRT2
Location & Maps
more
  • Sequence Map
    Chr7:127017531-127021211 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3681 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 69.28 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PRRT2, proline rich transmembrane protein 2
  • Vertebrate Orthologs
    5
  • Human Ortholog
    PRRT2, proline rich transmembrane protein 2
    Orthology source: HomoloGene
  • Synonyms
    BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC
  • Links
    NCBI Gene ID: 112476
    neXtProt AC: NX_Q7Z6L0

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

Human Diseases
more
  • Diseases
    1 with human PRRT2 associations

Human Disease Mouse Models
       Episodic Kinesigenic Dyskinesia 1; EKD1   OMIM: 128200
Click on a disease name to see all genes associated with that disease.

  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Targeted
    4
  • Genomic Mutations
    3 involving Prrt2
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    7 from dbSNP Build 142
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000029695 proline-rich transmembrane protein 2
  • InterPro Domains
    IPR007593 CD225/Dispanin family
Molecular
Reagents
less
  • All nucleic 24
    cDNA 24

    Microarray probesets 2
Other
Accession IDs
less
MGI:2141878
References
more
  • Summaries
    All 25
    Diseases 6
    Gene Ontology 4
    Phenotypes 10
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/23/2016
MGI 6.05
The Jackson Laboratory