Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11149
Gene name Gene Name - the full gene name approved by the HGNC.
Popeye domain cAMP effector 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POPDC1
Synonyms (NCBI Gene) Gene synonyms aliases
BVES, CARICK, HBVES, LGMD2X, LGMDR25, POP1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604577 1152 ENSG00000112276
Protein
UniProt ID 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
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2X, Limb-girdle muscular dystrophy rs869025337, rs1562137622, rs796206315 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Tetralogy of Fallot tetralogy of fallot N/A N/A GenCC