Entity Details

Primary name POPDC3
Entity type gene
Source Source Link

Details

PrimaryID64208
RefseqGene
SymbolPOPDC3
Namepopeye domain containing 3
Chromosome6
Location6q21
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-12-06
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPOPD3_HUMAN

GO terms

Show/Hide Table
GOName
GO:0007507 heart development
GO:0007519 skeletal muscle tissue development
GO:0016021 integral component of membrane
GO:0030552 cAMP binding
GO:0042383 sarcolemma
GO:0042391 regulation of membrane potential
GO:0051146 striated muscle cell differentiation

Diseases

Show/Hide Table
Disease IDSourceNameDescription
618848 OMIMMuscular dystrophy, limb-girdle, autosomal recessive 26 (LGMDR26)An autosomal recessive muscular disorder characterized by adult onset of weakness and atrophy of proximal limb muscles, elevated serum creatine kinase levels, and dystrophic findings on muscle biopsy. There is no cardiac or respiratory involvement. The disease is caused by variants affecting the gene represented in this entry.

Interactions

1 interaction

InteractorPartnerSourcesPublicationsLink
POPDC3SCRN1BioGRID, IntAct28514442 details