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

Gene ID: 64091, updated on 2-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
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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)

Genotypes

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
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
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

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