Gene

ppp3ca

ID

ZDB-GENE-091113-24

Name

protein phosphatase 3, catalytic subunit, alpha isozyme

Symbol

ppp3ca Nomenclature History

Previous Names

fj46e08
si:dkeyp-79c2.2
wu:fj46e08

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Predicted to have calmodulin binding activity and calmodulin-dependent protein phosphatase activity. Predicted to be involved in calcineurin-NFAT signaling cascade. Predicted to localize to calcineurin complex and cytosol. Human ortholog(s) of this gene implicated in infantile or early childhood epileptic encephalopathy 1. Is expressed in brain; heart; integument; and olfactory epithelium. Orthologous to human PPP3CA (protein phosphatase 3 catalytic subunit alpha).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

6 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ppp3ca Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
developmental and epileptic encephalopathy 91	Alliance	Developmental and epileptic encephalopathy 91	617711
		Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	618265

Associated With ppp3ca Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR004843	Calcineurin-like phosphoesterase domain, ApaH type
Domain	IPR006186	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase
Domain	IPR041751	PP2B, metallophosphatase domain
Family	IPR043360	PP2B
Homologous_superfamily	IPR029052	Metallo-dependent phosphatase-like