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Aliases for POPDC2 Gene

Aliases for POPDC2 Gene

  • Popeye Domain Containing 2 2 3 5
  • Popeye Protein 2 3 4
  • POP2 3 4
  • Popeye Domain-Containing Protein 2 3

External Ids for POPDC2 Gene

Previous GeneCards Identifiers for POPDC2 Gene

  • GC03M120643
  • GC03M120681
  • GC03M120843
  • GC03M119355
  • GC03M116736

Summaries for POPDC2 Gene

Entrez Gene Summary for POPDC2 Gene

  • 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]

GeneCards Summary for POPDC2 Gene

POPDC2 (Popeye Domain Containing 2) is a Protein Coding gene. GO annotations related to this gene include cAMP binding. An important paralog of this gene is POPDC3.

UniProtKB/Swiss-Prot for POPDC2 Gene

  • Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density.

Gene Wiki entry for POPDC2 Gene

Additional gene information for POPDC2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POPDC2 Gene

Genomics for POPDC2 Gene

Regulatory Elements for POPDC2 Gene

Enhancers for POPDC2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H119659 1.1 Ensembl ENCODE dbSUPER 21.7 +3.8 3834 4 CTCF POLR2A ZNF366 ZNF512 ZMYM3 JUNB RCOR1 REST CREM RELA POPDC2 RPL10P7 CD80 MAATS1 ARHGAP31 PLA1A
GH03H119626 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +35.9 35931 5 PKNOX1 BATF ZNF766 SCRT2 RUNX3 CREM IKZF2 SMARCA5 CEBPB ZNF518A ADPRH MAATS1 RPL10P7 COX17 CD80 POPDC2 ARHGAP31 PLA1A GPR156 GSK3B
GH03H119646 0.8 Ensembl ENCODE dbSUPER 21.2 +17.7 17749 1 POPDC2 RPL10P7 ADPRH
GH03H119570 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +94.3 94324 1 PKNOX1 EBF1 DPF2 NR2F2 IKZF1 STAT2 EED ZNF24 ATF7 RUNX3 CD80 PLA1A ARHGAP31 ADPRH POPDC2 POGLUT1 TMEM39A COX17
GH03H119675 1.3 ENCODE dbSUPER 12.2 -11.6 -11581 2 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 ZNF207 MAATS1 COX17 POPDC2 CD80 LOC105374063
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POPDC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for POPDC2 Gene

Chromosome:
3
Start:
119,636,457 bp from pter
End:
119,665,324 bp from pter
Size:
28,868 bases
Orientation:
Minus strand

Genomic View for POPDC2 Gene

Genes around POPDC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POPDC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POPDC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POPDC2 Gene

Proteins for POPDC2 Gene

  • Protein details for POPDC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HBU9-POPD2_HUMAN
    Recommended name:
    Popeye domain-containing protein 2
    Protein Accession:
    Q9HBU9
    Secondary Accessions:
    • Q86UE7

    Protein attributes for POPDC2 Gene

    Size:
    364 amino acids
    Molecular mass:
    40448 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH26911.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for POPDC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POPDC2 Gene

Post-translational modifications for POPDC2 Gene

  • Glycosylation at posLast=44
  • Modification sites at PhosphoSitePlus

Other Protein References for POPDC2 Gene

No data available for DME Specific Peptides for POPDC2 Gene

Domains & Families for POPDC2 Gene

Gene Families for POPDC2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for POPDC2 Gene

Suggested Antigen Peptide Sequences for POPDC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HBU9

UniProtKB/Swiss-Prot:

POPD2_HUMAN :
  • Belongs to the popeye family.
Family:
  • Belongs to the popeye family.
genes like me logo Genes that share domains with POPDC2: view

Function for POPDC2 Gene

Molecular function for POPDC2 Gene

UniProtKB/Swiss-Prot Function:
Important for the maintenance of cardiac function. Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density.

Gene Ontology (GO) - Molecular Function for POPDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with POPDC2: view
genes like me logo Genes that share phenotypes with POPDC2: view

Animal Models for POPDC2 Gene

MGI Knock Outs for POPDC2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POPDC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POPDC2 Gene

Localization for POPDC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POPDC2 Gene

Membrane; Multi-pass membrane protein. Cell membrane, sarcolemma.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POPDC2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for POPDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 10882522
GO:0042383 sarcolemma IDA,IEA 26642364
genes like me logo Genes that share ontologies with POPDC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POPDC2 Gene

Pathways & Interactions for POPDC2 Gene

SuperPathways for POPDC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for POPDC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate ISS --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with POPDC2: view

No data available for Pathways by source and SIGNOR curated interactions for POPDC2 Gene

Drugs & Compounds for POPDC2 Gene

No Compound Related Data Available

Transcripts for POPDC2 Gene

Unigene Clusters for POPDC2 Gene

Popeye domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POPDC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for POPDC2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
SP1: - - -
SP2: - - - -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7:

Relevant External Links for POPDC2 Gene

GeneLoc Exon Structure for
POPDC2
ECgene alternative splicing isoforms for
POPDC2

Expression for POPDC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POPDC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POPDC2 Gene

This gene is overexpressed in Heart - Left Ventricle (x20.7), Heart - Atrial Appendage (x11.9), and Colon - Sigmoid (x4.3).

Protein differential expression in normal tissues from HIPED for POPDC2 Gene

This gene is overexpressed in Fetal heart (47.5), Urinary Bladder (8.0), and Heart (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for POPDC2 Gene



Protein tissue co-expression partners for POPDC2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of POPDC2 Gene:

POPDC2

SOURCE GeneReport for Unigene cluster for POPDC2 Gene:

Hs.656031

mRNA Expression by UniProt/SwissProt for POPDC2 Gene:

Q9HBU9-POPD2_HUMAN
Tissue specificity: Expressed predominantly in the heart and in the skeletal muscle.

Evidence on tissue expression from TISSUES for POPDC2 Gene

  • Intestine(4.2)
  • Kidney(4.2)
  • Stomach(4.2)
  • Heart(3.3)
  • Muscle(3)
genes like me logo Genes that share expression patterns with POPDC2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for POPDC2 Gene

Orthologs for POPDC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for POPDC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POPDC2 33 34
  • 99.27 (n)
cow
(Bos Taurus)
Mammalia POPDC2 33 34
  • 84.96 (n)
rat
(Rattus norvegicus)
Mammalia Popdc2 33
  • 81.7 (n)
mouse
(Mus musculus)
Mammalia Popdc2 33 16 34
  • 81.51 (n)
dog
(Canis familiaris)
Mammalia POPDC2 34
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia POPDC2 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves POPDC2 33 34
  • 70.13 (n)
lizard
(Anolis carolinensis)
Reptilia POPDC2 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia popdc2 33
  • 65.21 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10593 33
zebrafish
(Danio rerio)
Actinopterygii popdc2 33 34
  • 59.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta bves 34
  • 18 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToMany
Species where no ortholog for POPDC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POPDC2 Gene

ENSEMBL:
Gene Tree for POPDC2 (if available)
TreeFam:
Gene Tree for POPDC2 (if available)

Paralogs for POPDC2 Gene

Paralogs for POPDC2 Gene

(2) SIMAP similar genes for POPDC2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with POPDC2: view

Variants for POPDC2 Gene

Sequence variations from dbSNP and Humsavar for POPDC2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000026753 -- 119,651,009(+) CTCTC(A/G)CATAC intron-variant
rs1000097189 -- 119,649,635(+) TGGAA(-/ATGATG)ATGAT intron-variant
rs1000133607 -- 119,644,383(+) ACACA(G/T)AATGG intron-variant
rs1000506984 -- 119,661,087(+) TCAGG(G/T)TCAGA intron-variant, upstream-variant-2KB
rs1000592621 -- 119,655,600(+) GACTT(C/T)GAAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POPDC2 Gene

Variant ID Type Subtype PubMed ID
esv3568977 CNV loss 25503493
nsv1014394 CNV loss 25217958
nsv520805 CNV loss 19592680
nsv527724 CNV loss 19592680
nsv829695 CNV loss 17160897

Variation tolerance for POPDC2 Gene

Residual Variation Intolerance Score: 47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.41; 85.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POPDC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POPDC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POPDC2 Gene

Disorders for POPDC2 Gene

Relevant External Links for POPDC2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POPDC2

No disorders were found for POPDC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POPDC2 Gene

Publications for POPDC2 Gene

  1. Isolation and characterization of the novel popeye gene family expressed in skeletal muscle and heart. (PMID: 10882522) Andrée B … Brand T (Developmental biology 2000) 2 3 4 22 60
  2. POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. (PMID: 26642364) Schindler RF … Ferlini A (The Journal of clinical investigation 2016) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for POPDC2 Gene

Sources for POPDC2 Gene

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