POPDC3 (popeye domain cAMP effector 3)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64208
Gene name Gene Name - the full gene name approved by the HGNC.
Popeye domain cAMP effector 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POPDC3
Synonyms (NCBI Gene) Gene synonyms aliases
LGMDR26, POP3, bA355M14.1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LGMDR26
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0007507 Process Heart development IBA 21873635
GO:0007519 Process Skeletal muscle tissue development IBA 21873635
GO:0008150 Process Biological_process ND
GO:0016021 Component Integral component of membrane NAS 10882522
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
605824 17649 ENSG00000132429
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Muscular dystrophy muscular dystrophy, limb-girdle, autosomal recessive 26 GenCC
Multiple Sclerosis Multiple Sclerosis GWAS
Show/Hide Text Mining Associations (9)
Associations from Text Mining
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