Prrt2 proline-rich transmembrane protein 2 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Prrt2provided by RGD
Official Full Name: proline-rich transmembrane protein 2provided by RGD
Primary source: RGD:1564195
See related: EnsemblRapid:ENSRNOG00000029366 AllianceGenome:RGD:1564195
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: DSPB3; RGD1564195
Summary: Enables SH3 domain binding activity. Predicted to be involved in negative regulation of short-term synaptic potentiation; regulation of vesicle fusion; and synaptic vesicle fusion to presynaptic active zone membrane. Predicted to act upstream of or within neuromuscular process controlling posture. Located in neuron projection. 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, Dec 2024]
Expression: Biased expression in Brain (RPKM 224.3), Thymus (RPKM 61.2) and 8 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q37

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (191054962..191059632, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (181625243..181628833, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (198451042..198454998, complement)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study shows that proline-rich transmembrane protein 2 (PRRT2) deficiency induces paroxysmal kinesigenic dyskinesia by influencing synaptic function in the primary motor cortex of rats. Results provide new insights into the function of PRRT2 in synaptic transmission and movement control.
Title: PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by influencing synaptic function in the primary motor cortex of rats.
PRRT2 mutations have roles in neuronal dysfunction and neurodevelopmental defects
Title: PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects.

Submit: New GeneRIF Correction

General gene information

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Markers

RH144083 (e-PCR)
- UniSTS:233329

RH129937 (e-PCR)
- UniSTS:213225

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables SH3 domain binding	IDA Inferred from Direct Assay more info	PubMed
enables syntaxin-1 binding	IEA Inferred from Electronic Annotation more info
enables syntaxin-1 binding	ISO Inferred from Sequence Orthology more info
enables syntaxin-1 binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in negative regulation of SNARE complex assembly	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of SNARE complex assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of SNARE complex assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of short-term synaptic potentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of short-term synaptic potentiation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of short-term synaptic potentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuromuscular process controlling posture	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
involved_in regulation of calcium-dependent activation of synaptic vesicle fusion	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle fusion to presynaptic active zone membrane	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle fusion to presynaptic active zone membrane	ISO Inferred from Sequence Orthology more info
involved_in synaptic vesicle fusion to presynaptic active zone membrane	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in axon terminus	IEA Inferred from Electronic Annotation more info
located_in axon terminus	ISO Inferred from Sequence Orthology more info
located_in axon terminus	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in neuron projection	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	ISO Inferred from Sequence Orthology more info
located_in presynapse	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in presynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	ISO Inferred from Sequence Orthology more info
located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in synaptic vesicle membrane	IEA Inferred from Electronic Annotation more info
located_in vesicle	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISS Inferred from Sequence or Structural Similarity more info

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_001276470.1 → NP_001263399.1 proline-rich transmembrane protein 2

See identical proteins and their annotated locations for NP_001263399.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.

Source sequence(s)

JAXUCZ010000001

UniProtKB/Swiss-Prot

D3ZFB6

Related

ENSRNOP00000050996.3, ENSRNOT00000049044.7

Conserved Domains (2) summary

pfam04505
Location:262 → 334

CD225; Interferon-induced transmembrane protein

pfam15751
Location:168 → 261

FANCA_interact; FAAP20 FANCA interaction domain

RNA

NR_077057.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate 5' exon structure and lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

JAXUCZ010000001

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086019.1 Reference GRCr8

Range

191054962..191059632 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063267784.1 → XP_063123854.1 proline-rich transmembrane protein 2 isoform X2

UniProtKB/TrEMBL

A0A8I6GFD2
XM_063267780.1 → XP_063123850.1 proline-rich transmembrane protein 2 isoform X1