POPDC3

Chr 6q21

popeye domain cAMP effector 3

Aliases:: POP3, MGC22671, bA355M14.1
MANE:: ENST00000254765.4

OMIM: 605824 ↗NCBI: 64208 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

POPDC3 · Q9HBV1

v62025-08-01

Predicted Aligned Error matrix for POPDC3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

82.3/ 100

Confident

291 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)23%
Low(50–70)16%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

muscular dystrophy, limb-girdle, autosomal recessive 26
0.61
muscular dystrophy, limb-girdle, autosomal recessive 23
0.60
atrial fibrillation
0.42
autosomal recessive limb-girdle muscular dystrophy
0.37
glomerulonephritis
0.13
androgenetic alopecia
0.12
connective tissue disorder
0.11
short-term memory
0.10
response to cranial radiation therapy
0.10
head and neck squamous cell carcinoma
0.08

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

Protein function (UniProt)

Popeye domain-containing protein 3

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)