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

Summary

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 short-term synaptic potentiation; regulation of vesicle fusion; and synaptic vesicle fusion to presynaptic active zone membrane. Located in axon terminus; plasma membrane; and synaptic vesicle. Is active in glutamatergic synapse and presynaptic membrane. Is expressed in brain and spinal cord. Used to study episodic kinesigenic dyskinesia 1. Human ortholog(s) of this gene implicated in benign familial infantile seizures 2 and episodic kinesigenic dyskinesia 1. Orthologous to human PRRT2 (proline rich transmembrane protein 2). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
An Emerging Role of PRRT2 in Regulating Growth Cone Morphology.
Title: An Emerging Role of PRRT2 in Regulating Growth Cone Morphology.
Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.
Title: Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia.
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.
Prrt2 deletion causes spontaneous paroxysmal episodes with seizure, movement disorders and spatial learning deficits.
Title: Paroxysmal and cognitive phenotypes in Prrt2 mutant mice.
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.
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)

Endonuclease-mediated (1) 1 citation
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 dendritic spine	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 density 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
located_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 synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
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)

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

126616707..126620800 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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