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

    Gene ID: 361651, updated on 17-Aug-2024

    Summary

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    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 SNARE complex assembly; negative regulation of short-term synaptic potentiation; and synaptic vesicle exocytosis. 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 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 Brain (RPKM 224.3), Thymus (RPKM 61.2) and 8 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    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_086019.1Genomic Context describing neighboring genes Neighboring gene CDP-diacylglycerol--inositol 3-phosphatidyltransferase Neighboring gene major vault protein Neighboring gene Paxip1-associated glutamate-rich protein 1 Neighboring gene uncharacterized LOC134483860 Neighboring gene MYC associated zinc finger protein Neighboring gene kinesin family member 22 Neighboring gene uncharacterized LOC108349644

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by influencing synaptic function in the primary motor cortex of rats. Mo J, et al. Neurobiol Dis, 2019 Jan. PMID 30347267
    2. PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects. Liu YT, et al. Oncotarget, 2016 Jun 28. PMID 27172900, Free PMC Article
    3. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Chen WJ, et al. Nat Genet, 2011 Nov 20. PMID 22101681
    4. A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2): HINTS FOR AN INTRACELLULAR FUNCTION AT THE SYNAPSE. Rossi P, et al. J Biol Chem, 2016 Mar 18. PMID 26797119, Free PMC Article
    5. PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery. Valente P, et al. Cell Rep, 2016 Apr 5. PMID 27052163, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    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 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)

    1. 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

    1. 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

    1. NC_086019.1 Reference GRCr8

      Range
      191054962..191059632 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/TrEMBL
      A0A8I6GFD2

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

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    D3ZFB6.1 GenPept UniProtKB/Swiss-Prot:D3ZFB6

    Gene LinkOut

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

    Chemical Information
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