POPDC3 (popeye domain cAMP effector 3)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 64208
Gene name Popeye domain cAMP effector 3
Gene symbol POPDC3
Synonyms (NCBI Gene)
LGMDR26POP3bA355M14.1
Chromosome 6
Chromosome location 6q21
Summary This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced trans
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene SNPs Other IDs Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0007507 Process Heart development IBA
GO:0007519 Process Skeletal muscle tissue development IBA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
605824 17649 ENSG00000132429
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HBV1
Protein name Popeye domain-containing protein 3 (Popeye protein 3)
Protein function May play a role in the maintenance of heart function mediated, at least in part, through cAMP-binding. May play a role in the regulation of KCNK2/TREK-1-mediated current amplitude (PubMed:31610034). {ECO:0000250|UniProtKB:Q9ES81, ECO:0000269|Pub
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04831 Popeye 25 → 249 Popeye protein conserved region Family
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in skeletal muscle (at protein level) (PubMed:10882522, PubMed:31610034). Also detected in heart (PubMed:10882522). {ECO:0000269|PubMed:10882522, ECO:0000269|PubMed:31610034}.
Sequence
Sequence length 291
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Muscular dystrophy, limb-girdle, autosomal recessive 26 Pathogenic rs2533591502, rs113419658, rs1478322852, rs1437210856, rs1311819000, rs1054547392 RCV004006203
RCV004006204
RCV004006205
RCV001078197
RCV001078198
RCV001078199
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
POPDC3-related disorder Likely benign rs150202904 RCV003924060
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 37813278
Carcinogenesis Associate 22654436
Intestinal Diseases Associate 34069715
Lymphatic Metastasis Inhibit 22654436
Nasopharyngeal Carcinoma Associate 34432380
Neoplasm Metastasis Inhibit 22654436
Neoplasms Inhibit 21690554, 34069715
Neoplasms Associate 22654436, 37813278
Stomach Neoplasms Inhibit 22654436, 34069715