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    POPDC2 popeye domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 64091, updated on 17-Jun-2019

    Summary

    Official Symbol
    POPDC2provided by HGNC
    Official Full Name
    popeye domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:17648
    See related
    Ensembl:ENSG00000121577 MIM:605823
    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

    Genomic context

    See POPDC2 in Genome Data Viewer
    Location:
    3q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (119642052..119660590, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119360899..119379437, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374062 Neighboring gene phospholipase A1 member A Neighboring gene ribosomal protein L10 pseudogene 7 Neighboring gene uncharacterized LOC105374063 Neighboring gene cytochrome c oxidase copper chaperone COX17

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cAMP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of heart rate ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    skeletal muscle tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    striated muscle cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sarcolemma IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    popeye domain-containing protein 2
    Names
    popeye protein 2

    NCBI Reference Sequences (RefSeq)

    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_001308333.1NP_001295262.1  popeye domain-containing protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 3' coding region, compared to variant 3. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 3.
      Source sequence(s)
      AC023494, AC073352, AK314819, BU948168
      Consensus CDS
      CCDS77797.1
      UniProtKB/Swiss-Prot
      Q9HBU9
      Related
      ENSP00000420715.1, ENST00000468801.1
      Conserved Domains (1) summary
      pfam04831
      Location:26251
      Popeye; Popeye protein conserved region
    2. NM_001369919.1NP_001356848.1  popeye domain-containing protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (3).
      Source sequence(s)
      AC023494, AC073352
    3. NM_022135.3NP_071418.2  popeye domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_071418.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 3' coding region, compared to variant 3. This results in a shorter protein (isoform 1), compared to isoform 3.
      Source sequence(s)
      AC023494, AK314819, BC044929, BU948168
      Consensus CDS
      CCDS2992.1
      UniProtKB/Swiss-Prot
      Q9HBU9
      Related
      ENSP00000264231.3, ENST00000264231.7
      Conserved Domains (1) summary
      pfam04831
      Location:26251
      Popeye; Popeye protein conserved region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      119642052..119660590 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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