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

    Gene ID: 69017, updated on 27-Nov-2024

    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
    NEW
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    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001102563.1NP_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:14215
      PHA03247; large tegument protein UL36; Provisional
      pfam04505
      Location:270336
      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_036153413.1XP_036009306.1  proline-rich transmembrane protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PUL5
      Conserved Domains (2) summary
      PHA03247
      Location:14215
      PHA03247; large tegument protein UL36; Provisional
      pfam04505
      Location:270336
      CD225; Interferon-induced transmembrane protein
    2. XM_036153414.1XP_036009307.1  proline-rich transmembrane protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PUL5
      Conserved Domains (2) summary
      PHA03247
      Location:14215
      PHA03247; large tegument protein UL36; Provisional
      pfam04505
      Location:270336
      CD225; Interferon-induced transmembrane protein
    3. XM_036153415.1XP_036009308.1  proline-rich transmembrane protein 2 isoform X1

      UniProtKB/Swiss-Prot
      E9PUL5
      Conserved Domains (2) summary
      PHA03247
      Location:14215
      PHA03247; large tegument protein UL36; Provisional
      pfam04505
      Location:270336
      CD225; Interferon-induced transmembrane protein

    RNA

    1. XR_004934182.1 RNA Sequence