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    POPDC2 popeye domain cAMP effector 2 [ Homo sapiens (human) ]

    Gene ID: 64091, updated on 14-Nov-2024

    Summary

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    Official Symbol
    POPDC2provided by HGNC
    Official Full Name
    popeye domain cAMP effector 2provided by HGNC
    Primary source
    HGNC:HGNC:17648
    See related
    Ensembl:ENSG00000121577 MIM:605823; AllianceGenome:HGNC:17648
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    POP2
    Summary
    This gene encodes a member of the POP family of proteins which contain three putative transmembrane domains. This membrane associated protein is predominantly expressed in skeletal and cardiac muscle, and may have an important function in these tissues. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in heart (RPKM 152.4), urinary bladder (RPKM 12.2) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POPDC2 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (119642056..119660883, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (122361759..122380618, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119360903..119379436, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20316 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:119319749-119320248 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:119331548-119331710 Neighboring gene phospholipase A1 member A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20319 Neighboring gene ribosomal protein L10 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20320 Neighboring gene uncharacterized LOC105374063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20321 Neighboring gene cytochrome c oxidase copper chaperone COX17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20322 Neighboring gene uncharacterized LOC105374064 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:119419489-119420688 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:119421355-119422034 Neighboring gene cilia and flagella associated protein 91

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. POPDC2 a novel susceptibility gene for conduction disorders. Rinné S, et al. J Mol Cell Cardiol, 2020 Aug. PMID 32535041
    2. New kids on the block: The Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle. Brand T, et al. Cell Signal, 2017 Dec. PMID 28939104, Free PMC Article
    3. 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
    4. An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs. Holt I, et al. BMC Mol Cell Biol, 2020 Dec 1. PMID 33261556, Free PMC Article
    5. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. Schindler RF, et al. J Clin Invest, 2016 Jan. PMID 26642364, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
      Title: Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
    2. POPDC2 a novel susceptibility gene for conduction disorders.
      Title: POPDC2 a novel susceptibility gene for conduction disorders.
    3. An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
      Title: An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs.
    4. recently a novel family of cAMP effector proteins emerged and was termed the Popeye domain containing (POPDC) family, which consists of three members POPDC1, POPDC2 and POPDC3. POPDC proteins are transmembrane proteins, which are abundantly present in striated and smooth muscle cells. POPDC proteins bind cAMP with high affinity comparable to PKA
      Title: New kids on the block: The Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cAMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of heart rate ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sarcolemma IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    popeye domain-containing protein 2
    Names
    popeye domain containing 2
    popeye 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_001308333.2 → NP_001295262.1  popeye domain-containing protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC023494, AC073352
      Consensus CDS
      CCDS77797.1
      UniProtKB/Swiss-Prot
      Q9HBU9
      Related
      ENSP00000420715.1, ENST00000468801.1
      Conserved Domains (1) summary
      pfam04831
      Location:26 → 251
      Popeye; Popeye protein conserved region

    2. NM_001369919.2 → NP_001356848.1  popeye domain-containing protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC023494, AC073352
      Consensus CDS
      CCDS93344.1
      UniProtKB/TrEMBL
      C9J3P7
      Related
      ENSP00000417250.1, ENST00000493094.6
      Conserved Domains (1) summary
      pfam04831
      Location:26 → 251
      Popeye; Popeye protein conserved region

    3. NM_022135.4 → NP_071418.2  popeye domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_071418.2

      Status: REVIEWED

      Source sequence(s)
      AC023494, AC073352
      Consensus CDS
      CCDS2992.1
      UniProtKB/Swiss-Prot
      Q86UE7, Q9HBU9
      Related
      ENSP00000264231.3, ENST00000264231.7
      Conserved Domains (1) summary
      pfam04831
      Location:26 → 251
      Popeye; Popeye protein conserved region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      119642056..119660883 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448704.1 → XP_047304660.1  popeye domain-containing protein 2 isoform X2

    2. XM_047448703.1 → XP_047304659.1  popeye domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      C9J3P7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      122361759..122380618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347516.1 → XP_054203491.1  popeye domain-containing protein 2 isoform X2

    2. XM_054347515.1 → XP_054203490.1  popeye domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      C9J3P7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HBU9.2 GenPept UniProtKB/Swiss-Prot:Q9HBU9

    Gene LinkOut

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

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