ATP2A2

Chr 12q24.11

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

Aliases:: SERCA2
MANE:: ENST00000539276.7

OMIM: 108740 ↗NCBI: 488 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ATP2A2 · P16615

v62025-08-01

Predicted Aligned Error matrix for ATP2A2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

85.4/ 100

Confident

1,042 residues

Confidence breakdown

Very high(≥ 90)46%
Confident(70–90)46%
Low(50–70)6%
Very low(< 50)3%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Mosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rhabdomyolysis and metabolic muscle disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Epidermolysis bullosa and congenital skin fragility
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Darier disease
0.82
acrokeratosis verruciformis
0.66
neurodegenerative disease
0.51
schizophrenia
0.43
gastroesophageal reflux disease
0.28
hypothyroidism
0.27
skin disorder
0.26
obesity disorder
0.22
atrial fibrillation
0.20
hereditary disease
0.19

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

Protein function (UniProt)

Sarcoplasmic/endoplasmic reticulum calcium ATPase 2

This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen (PubMed:12542527, PubMed:16402920). Involved in autophagy in response to starvation. Upon interaction with VMP1 and activation, controls ER-isolation membrane contacts for autophagosome formation (PubMed:28890335). Also modulates ER contacts with lipid droplets, mitochondria and endosomes (PubMed:28890335). In coordination with FLVCR2 mediates heme-stimulated switching from mitochondrial ATP synthesis to thermogenesis (By similarity)