Species

Homo sapiens

Symbol

ATP2B3

Name

ATPase plasma membrane Ca2+ transporting 3

Synonyms

ATPase, Ca++ transporting, plasma membrane 3
cerebellar ataxia 2 (X-linked)

Biotype

protein coding gene

Automated Description

Enables P-type calcium transporter activity involved in regulation of presynaptic cytosolic calcium ion concentration. Involved in calcium ion export across plasma membrane and regulation of cytosolic calcium ion concentration. Located in plasma membrane. Is active in GABA-ergic synapse and glutamatergic synapse. Implicated in X-linked spinocerebellar ataxia 1. Biomarker of gestational diabetes and pre-eclampsia.

RGD Description

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 3. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR24093

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

Phenotype Term	Annotation details	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

Cell color indicative of annotation volume

No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Download all Alleles/Variants for all genes of the species

Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Sequence Feature Viewer

Genome location

ChrX:153517642...153582939 + (65.30 kb)

Assembly version

GRCh38

Viewer Help

Data currently unavailable; sequence viewer under construction

Sequence Details

Loading...

Expression

Primary Sources

None

Other Sources

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

Molecular Interactions

ATP2B3 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Genetic Interactions

ATP2B3 role	ATP2B3 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page