ATP2A2

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]

Description

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

Tissue specificity

Group enriched (heart muscle, skeletal muscle, tongue)

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

12 (110280756 - 110351093)

Ensembl ID

ENSG00000174437  (ver. 103.38)

Orthologs

Mouse Atp2a2: ENSMUSG00000029467

UniProt

P16615

neXtProt

NX_P16615

Human splice variants
Mouse splice variants

Protein structure