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Prrt2 proline-rich transmembrane protein 2 [ Mus musculus (house mouse) ]

Gene ID: 69017, updated on 11-Apr-2024

Summary

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Official Symbol
Prrt2provided by MGI
Official Full Name
proline-rich transmembrane protein 2provided by MGI
Primary source
MGI:MGI:1916267
See related
Ensembl:ENSMUSG00000045114 AllianceGenome:MGI:1916267
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
DSPB3; 1500031I19Rik
Summary
Enables syntaxin-1 binding activity. Involved in negative regulation of SNARE complex assembly; negative regulation of short-term synaptic potentiation; and synaptic vesicle exocytosis. Located in axon terminus; presynaptic membrane; and synaptic vesicle. Is active in glutamatergic synapse. Is integral component of presynaptic membrane. Is expressed in brain. Used to study episodic kinesigenic dyskinesia 1. Human ortholog(s) of this gene implicated in benign familial neonatal epilepsy and episodic kinesigenic dyskinesia 1. Orthologous to human PRRT2 (proline rich transmembrane protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in cerebellum adult (RPKM 128.9), cortex adult (RPKM 67.1) and 12 other tissues See more
Orthologs
human all
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Genomic context

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See Prrt2 in Genome Data Viewer
Location:
7 F3; 7 69.28 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (126616707..126620800, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (127017542..127021450, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene major vault protein Neighboring gene STARR-seq mESC enhancer starr_20161 Neighboring gene STARR-positive B cell enhancer ABC_E2850 Neighboring gene PAXIP1 associated glutamate rich protein 1A Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:134167876-134168063 Neighboring gene predicted gene, 53372 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:134170996-134171192 Neighboring gene MYC-associated zinc finger protein (purine-binding transcription factor) Neighboring gene STARR-seq mESC enhancer starr_20164 Neighboring gene kinesin family member 22 Neighboring gene STARR-positive B cell enhancer ABC_E9708

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. An Emerging Role of PRRT2 in Regulating Growth Cone Morphology. Savino E, et al. Cells, 2021 Oct 5. PMID 34685646, Free PMC Article
  2. Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases. Aj F, et al. Neurogenetics, 2021 Jul. PMID 34101060, Free PMC Article
  3. An interaction between PRRT2 and Na(+)/K(+) ATPase contributes to the control of neuronal excitability. Sterlini B, et al. Cell Death Dis, 2021 Mar 17. PMID 33731672, Free PMC Article
  4. Increased responsiveness at the cerebellar input stage in the PRRT2 knockout model of paroxysmal kinesigenic dyskinesia. Binda F, et al. Neurobiol Dis, 2021 May. PMID 33515674
  5. Paroxysmal and cognitive phenotypes in Prrt2 mutant mice. Robertson L, et al. Genes Brain Behav, 2019 Jun. PMID 30884140

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits.
    Title: Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits.
  2. PRRT2 modulates presynaptic Ca(2+) influx by interacting with P/Q-type channels.
    Title: PRRT2 modulates presynaptic Ca(2+) influx by interacting with P/Q-type channels.
  3. Increased responsiveness at the cerebellar input stage in the PRRT2 knockout model of paroxysmal kinesigenic dyskinesia.
    Title: Increased responsiveness at the cerebellar input stage in the PRRT2 knockout model of paroxysmal kinesigenic dyskinesia.
  4. Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases.
    Title: Age-dependent neurological phenotypes in a mouse model of PRRT2-related diseases.
  5. An Emerging Role of PRRT2 in Regulating Growth Cone Morphology.
    Title: An Emerging Role of PRRT2 in Regulating Growth Cone Morphology.
  6. Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.
    Title: Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.
  7. Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons.
    Title: Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons.
  8. Prrt2 deletion causes spontaneous paroxysmal episodes with seizure, movement disorders and spatial learning deficits.
    Title: Paroxysmal and cognitive phenotypes in Prrt2 mutant mice.
  9. these findings identify PRRT2 as a novel regulator of the SNARE complex and provide a circuit mechanism underlying the PRRT2-related behaviors.
    Title: PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum.
  10. Study describes the phenotype of KO mice for PRRT2 and shows that its loss-of-function recapitulates the human phenotype in terms of episodic disturbances in motor coordination and paroxysmal dyskinesias, suggesting that PRRT2 plays a critical role in the development of cortical connectivity and functional stability of neuronal networks.
    Title: The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables SH3 domain binding ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables syntaxin-1 binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of SNARE complex assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of short-term synaptic potentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neuromuscular process controlling posture ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of calcium-dependent activation of synaptic vesicle fusion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of calcium-dependent activation of synaptic vesicle fusion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in synaptic vesicle fusion to presynaptic active zone membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in axon terminus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
  
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in neuron projection ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
located_in presynapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in presynaptic membrane IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in presynaptic membrane IEP
Inferred from Expression Pattern
more info
 PubMed 
is_active_in presynaptic membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
  
located_in synaptic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in vesicle IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
proline-rich transmembrane protein 2
Names
dispanin subfamily B member 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001102563.1 → NP_001096033.1  proline-rich transmembrane protein 2

    See identical proteins and their annotated locations for NP_001096033.1

    Status: VALIDATED

    Source sequence(s)
    BB872849, BB873187, BC053419, BF323287, CB246480
    Consensus CDS
    CCDS52405.1
    UniProtKB/Swiss-Prot
    E9PUL5
    Related
    ENSMUSP00000124520.2, ENSMUST00000159916.5
    Conserved Domains (2) summary
    PHA03247
    Location:14 → 215
    PHA03247; large tegument protein UL36; Provisional
    pfam04505
    Location:270 → 336
    CD225; Interferon-induced transmembrane protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    126616707..126620800 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036153413.1 → XP_036009306.1  proline-rich transmembrane protein 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PUL5
    Conserved Domains (2) summary
    PHA03247
    Location:14 → 215
    PHA03247; large tegument protein UL36; Provisional
    pfam04505
    Location:270 → 336
    CD225; Interferon-induced transmembrane protein

  2. XM_036153414.1 → XP_036009307.1  proline-rich transmembrane protein 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PUL5
    Conserved Domains (2) summary
    PHA03247
    Location:14 → 215
    PHA03247; large tegument protein UL36; Provisional
    pfam04505
    Location:270 → 336
    CD225; Interferon-induced transmembrane protein

  3. XM_036153415.1 → XP_036009308.1  proline-rich transmembrane protein 2 isoform X1

    UniProtKB/Swiss-Prot
    E9PUL5
    Conserved Domains (2) summary
    PHA03247
    Location:14 → 215
    PHA03247; large tegument protein UL36; Provisional
    pfam04505
    Location:270 → 336
    CD225; Interferon-induced transmembrane protein

RNA

  1. XR_004934182.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
E9PUL5.1 GenPept UniProtKB/Swiss-Prot:E9PUL5

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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