Species

Homo sapiens

Symbol

ATP2A2

Name

ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2

Synonyms

ATP2B
ATPase Ca++ transporting cardiac muscle slow twitch 2

Biotype

protein coding gene

Automated Description

Enables several functions, including P-type calcium transporter activity involved in regulation of cardiac muscle cell membrane potential; S100 protein binding activity; and transmembrane transporter binding activity. Involved in several processes, including calcium ion transport; macroautophagy; and mitochondrion-endoplasmic reticulum membrane tethering. Located in intercalated disc; longitudinal sarcoplasmic reticulum; and sarcoplasmic reticulum membrane. Part of calcium ion-transporting ATPase complex. Implicated in acrokeratosis verruciformis; essential hypertension; keratosis follicularis; and pulmonary hypertension.

RGD Description

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]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR42861

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

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No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

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Sequence Feature Viewer

Genome location

Chr12:110280616...110351093 + (70.48 kb)

Assembly version

GRCh38

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

ATP2A2 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

ATP2A2 role	ATP2A2 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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