About   Help   FAQ
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
    gene page
  • 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
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 69.28 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    67 from dbSNP Build 142
  • 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; chr16:29811382-29815892 (+)  GRCh38
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
less
  • Phenotype Summary
    30 phenotypes from 3 alleles in 4 genetic backgrounds
    55 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.
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
less
  • All GO Annotations
    27
  • GO References
    8
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    867
  • Tissues
    37
  • cDNA Data
    25
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 28
      cDNA 25
      Primer pair 3

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2141878
    References
    more
    • Summaries
      All 80
      Developmental Gene Expression 4
      Diseases 4
      Gene Ontology 8
      Phenotypes 55
    • 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:357541 Merolla A, et al., A pH-sensitive closed-loop nanomachine to control hyperexcitability at the single neuron level. Nat Commun. 2024 Jul 4;15(1):5609
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory