Gene Gene information from NCBI Gene database.
Entrez ID 11149
Gene name Popeye domain cAMP effector 1
Gene symbol POPDC1
Synonyms (NCBI Gene)
BVESCARICKHBVESLGMD2XLGMDR25POP1
Chromosome 6
Chromosome location 6q21
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs759745220 AAAG>- Likely-pathogenic Coding sequence variant, frameshift variant
rs796206315 G>A Pathogenic Stop gained, coding sequence variant
rs869025337 G>A,C Pathogenic Coding sequence variant, missense variant
rs1332603843 T>C Pathogenic Initiator codon variant, missense variant
rs1562133291 A>G Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
703
miRTarBase ID miRNA Experiments Reference
MIRT016150 hsa-miR-615-3p Sequencing 20371350
MIRT022303 hsa-miR-124-3p Microarray 18668037
MIRT050715 hsa-miR-18a-5p CLASH 23622248
MIRT681494 hsa-miR-8076 HITS-CLIP 21572407
MIRT681493 hsa-miR-3688-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001921 Process Positive regulation of receptor recycling IEA
GO:0001921 Process Positive regulation of receptor recycling ISS
GO:0002027 Process Regulation of heart rate IEA
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604577 1152 ENSG00000112276
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NE79
Protein name Popeye domain-containing protein 1 (Popeye protein 1)
Protein function Cell adhesion molecule involved in the establishment and/or maintenance of cell integrity. Involved in the formation and regulation of the tight junction (TJ) paracellular permeability barrier in epithelial cells (PubMed:16188940). Plays a role
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04831 Popeye 40 267 Popeye protein conserved region Family
Tissue specificity TISSUE SPECIFICITY: Expressed in epithelial cells (at protein level). Expressed in fetal and adult heart and skeletal muscle. {ECO:0000269|PubMed:10441744, ECO:0000269|PubMed:10882522, ECO:0000269|PubMed:16188940, ECO:0000269|PubMed:26642364}.
Sequence
Sequence length 360
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  cAMP signaling pathway
Adrenergic signaling in cardiomyocytes
Tight junction
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal recessive limb-girdle muscular dystrophy type 2X Likely pathogenic; Pathogenic rs768248477, rs869025337, rs1562137622, rs796206315 RCV002308717
RCV000207494
RCV000786929
RCV000768555
Limb-girdle muscular dystrophy Likely pathogenic; Pathogenic rs796206315 RCV001254696
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BVES-related disorder Benign; Likely benign; Uncertain significance rs41285458, rs2533526376, rs375292102, rs1368911181, rs61995860, rs143510978, rs144286946 RCV003931188
RCV003400431
RCV003911925
RCV003959253
RCV003915915
RCV003943201
RCV003953341