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    Popdc2 popeye domain containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 64082, updated on 27-Dec-2024

    Summary

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    Official Symbol
    Popdc2provided by MGI
    Official Full Name
    popeye domain containing 2provided by MGI
    Primary source
    MGI:MGI:1930150
    See related
    Ensembl:ENSMUSG00000022803 AllianceGenome:MGI:1930150
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pop2
    Summary
    This gene encodes a member of the Popeye domain containing family of membrane proteins. Proteins of this family contain three helical transmembrane domains and a conserved intracellular Popeye domain. In the adult mouse, this gene is expressed at high levels in cardiac myocytes, and mice deficient for this gene develop stress-induced cardiac pacemaker dysfunction. The protein binds to a two-pore domain potassium channel and recruits it to the plasma membrane. Cyclic adenosine monophosphate negatively regulates this interaction through the Popeye domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
    Expression
    Biased expression in heart adult (RPKM 235.0), bladder adult (RPKM 61.2) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    See Popdc2 in Genome Data Viewer
    Location:
    16 B3; 16 26.79 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (38182523..38198578)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (38362161..38378216)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 91 Neighboring gene STARR-positive B cell enhancer ABC_E9163 Neighboring gene cytochrome c oxidase assembly protein 17, copper chaperone Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:38400095-38400248 Neighboring gene phospholipase A1 member A Neighboring gene STARR-positive B cell enhancer ABC_E8634 Neighboring gene STARR-seq mESC enhancer starr_40819 Neighboring gene STARR-seq mESC enhancer starr_40820 Neighboring gene predicted gene, 36333

    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. Expression pattern of Popdc2 during mouse embryogenesis and in the adult. Froese A, et al. Dev Dyn, 2008 Mar. PMID 18189275
    2. POPDC2 a novel susceptibility gene for conduction disorders. Rinné S, et al. J Mol Cell Cardiol, 2020 Aug. PMID 32535041
    3. The cAMP-binding Popdc proteins have a redundant function in the heart. Brand T, et al. Biochem Soc Trans, 2014 Apr. PMID 24646234, Free PMC Article
    4. Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking. Swan AH, et al. Acta Neuropathol Commun, 2023 Jan 9. PMID 36624536, Free PMC Article
    5. Sequential Binding of MEIS1 and NKX2-5 on the Popdc2 Gene: A Mechanism for Spatiotemporal Regulation of Enhancers during Cardiogenesis. Dupays L, et al. Cell Rep, 2015 Oct 6. PMID 26411676, Free PMC Article

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. POPDC2 a novel susceptibility gene for conduction disorders.
      Title: POPDC2 a novel susceptibility gene for conduction disorders.
    2. Sequential binding of MEIS1 and NKX2-5 on the Popdc2 gene demonstrate a mechanism for spatiotemporal regulation of enhancers during cardiogenesis.
      Title: Sequential Binding of MEIS1 and NKX2-5 on the Popdc2 Gene: A Mechanism for Spatiotemporal Regulation of Enhancers during Cardiogenesis.
    3. Popdc1 and Popdc2 proteins interact with the potassium channel TREK-1, which leads to increased cell surface expression and enhanced current density
      Title: Popeye domain containing proteins are essential for stress-mediated modulation of cardiac pacemaking in mice.
    4. Popdc2 is expressed in various muscle and nonmuscle cell types during embryonic development and in postnatal life
      Title: Expression pattern of Popdc2 during mouse embryogenesis and in the adult.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cAMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cAMP binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of heart rate IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of membrane potential IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within sinoatrial node cell development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in skeletal muscle tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in striated muscle cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in sarcolemma ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    popeye domain-containing protein 2

    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_001081984.2 → NP_001075453.1  popeye domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001075453.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC064005, BY236921
      Consensus CDS
      CCDS37343.1
      UniProtKB/TrEMBL
      Q6P3F7
      Related
      ENSMUSP00000023494.7, ENSMUST00000023494.13
      Conserved Domains (1) summary
      pfam04831
      Location:26 → 251
      Popeye; Popeye protein conserved region

    2. NM_022318.3 → NP_071713.1  popeye domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_071713.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region and differs in the 3' UTR compared to variant (1). The encoded isoform (2) is shorter than and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      BC064005, BY236921
      Consensus CDS
      CCDS37342.1
      UniProtKB/Swiss-Prot
      Q9ES82
      Related
      ENSMUSP00000110387.2, ENSMUST00000114739.2
      Conserved Domains (1) summary
      pfam04831
      Location:26 → 251
      Popeye; Popeye protein conserved region

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      38182523..38198578
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006522439.4 → XP_006522502.1  popeye domain-containing protein 2 isoform X2

      Conserved Domains (1) summary
      pfam04831
      Location:26 → 264
      Popeye; Popeye protein conserved region

    2. XM_006522438.4 → XP_006522501.1  popeye domain-containing protein 2 isoform X1

      Conserved Domains (1) summary
      pfam04831
      Location:26 → 264
      Popeye; Popeye protein conserved region

    3. XM_030249226.1 → XP_030105086.1  popeye domain-containing protein 2 isoform X3

      Conserved Domains (1) summary
      pfam04831
      Location:26 → 200
      Popeye; Popeye protein conserved region
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ES82.1 GenPept UniProtKB/Swiss-Prot:Q9ES82

    Gene LinkOut

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

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