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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
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:126616703-126620383 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 69.28 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916267
protein coding gene Chr7:126616703-126620800 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033016
protein coding gene Chr7:131331723-131335403 (-)
A/J MGP_AJ_G0032999
protein coding gene Chr7:127845128-127848808 (-)
AKR/J MGP_AKRJ_G0032931
protein coding gene Chr7:131080811-131084491 (-)
BALB/cJ MGP_BALBcJ_G0033004
protein coding gene Chr7:127508550-127512230 (-)
C3H/HeJ MGP_C3HHeJ_G0032714
protein coding gene Chr7:131023275-131026955 (-)
C57BL/6NJ MGP_C57BL6NJ_G0033510
protein coding gene Chr7:136436039-136439719 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0030482
protein coding gene Chr7:129057552-129061267 (-)
CAST/EiJ MGP_CASTEiJ_G0032043
protein coding gene Chr7:122812829-122816517 (-)
CBA/J MGP_CBAJ_G0032687
protein coding gene Chr7:141023949-141027629 (-)
DBA/2J MGP_DBA2J_G0032839
protein coding gene Chr7:125819182-125822862 (-)
FVB/NJ MGP_FVBNJ_G0032792
protein coding gene Chr7:125670507-125674187 (-)
LP/J MGP_LPJ_G0032933
protein coding gene Chr7:132802298-132805978 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0032824
protein coding gene Chr7:142189842-142193522 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0033529
protein coding gene Chr7:130097430-130101110 (-)
PWK/PhJ MGP_PWKPhJ_G0031750
protein coding gene Chr7:118815825-118819505 (-)
SPRET/EiJ MGP_SPRETEiJ_G0031596
protein coding gene Chr7:116938228-116941892 (-)
WSB/EiJ MGP_WSBEiJ_G0032155
protein coding gene Chr7:131073069-131076744 (-)



Homology
more
  • Human Ortholog
    PRRT2, proline rich transmembrane protein 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PRRT2, proline rich transmembrane protein 2
  • Synonyms
    BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC
  • Links
    NCBI Gene ID: 112476
    neXtProt AC: NX_Q7Z6L0
    UniProt: Q7Z6L0

  • Chr Location
    16p11.2; chr16:29811856-29815920 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Prrt2 mouse models; 2 with human PRRT2 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    30 phenotypes from 3 alleles in 4 genetic backgrounds
    42 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele develop paroxysmal movements (bouncing and back walking) at the onset of locomotion and exhibit wild running and jumping in response to audiogenic stimuli and an increased sensitivity to the convulsive effects of pentylentetrazol.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000045114 Ensembl Gene Model | MGI Sequence Detail 3681 C57BL/6J ±  kb
    transcript ENSMUST00000159916 Ensembl | MGI Sequence Detail 2501 Not Applicable  
    polypeptide ENSMUSP00000124520 Ensembl | MGI Sequence Detail 346 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 25
      cDNA 24
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2141878
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 3
      Diseases 4
      Gene Ontology 9
      Phenotypes 42
    • 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:321505 Sheppard K, et al., Stride-level analysis of mouse open field behavior using deep-learning-based pose estimation. Cell Rep. 2022 Jan 11;38(2):110231

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    last database update
    06/28/2022
    MGI 6.20
    The Jackson Laboratory