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POPDC2

Chr 3q13.33

popeye domain cAMP effector 2

Aliases:
POP2
MANE:
ENST00000493094.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Paediatric or syndromic cardiomyopathy

    BIALLELIC, autosomal or pseudoautosomal
  • Progressive cardiac conduction disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Romano-Ward syndrome

    0.08
  • familial long QT syndrome

    0.08
  • hypertrophic cardiomyopathy

    0.08
  • Rare familial disorder with hypertrophic cardiomyopathy

    0.07
  • familial isolated dilated cardiomyopathy

    0.07
  • left ventricular noncompaction

    0.07
  • familial atrial fibrillation

    0.07
  • Familial short QT syndrome

    0.07
  • atrial septal defect

    0.07
  • arrhythmogenic right ventricular dysplasia 1

    0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Popeye domain-containing protein 2

Important for the maintenance of cardiac function (PubMed:40409267). Plays a regulatory function in heart rate dynamics mediated, at least in part, through cAMP-binding and, probably, by increasing cell surface expression of the potassium channel KCNK2 and enhancing current density (PubMed:40409267)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.