Gene

atp13a2

ID

ZDB-GENE-061215-126

Name

ATPase cation transporting 13A2

Symbol

atp13a2 Nomenclature History

Previous Names

im:7147302
zgc:136762

Type

protein_coding_gene

Location

Chr: 23 Mapping Details/Browsers

Description

Predicted to enable ATPase-coupled monoatomic cation transmembrane transporter activity. Acts upstream of or within several processes, including cellular response to manganese ion; cerebellum formation; and neuron cellular homeostasis. Predicted to be active in membrane. Is expressed in brain; eye; gonad; integument; and muscle. Used to study Parkinson's disease and amyotrophic lateral sclerosis. Human ortholog(s) of this gene implicated in Kufor-Rakeb syndrome; Parkinson's disease; and hereditary spastic paraplegia 78. Orthologous to human ATP13A2 (ATPase cation transporting 13A2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7147302 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from 4 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With atp13a2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
hereditary spastic paraplegia 78	Alliance	Spastic paraplegia 78, autosomal recessive	617225
Kufor-Rakeb syndrome	Alliance	Kufor-Rakeb syndrome	606693

Associated With atp13a2 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Parkinson's disease	AB + MO1-atp13a2	standard conditions	Lopes da Fonseca et al., 2013
Parkinson's disease	atp13a2^nii1/nii1	standard conditions	Nyuzuki et al., 2020
amyotrophic lateral sclerosis	WT + MO2-atp13a2 + MO3-atp13a2	standard conditions	Spataro et al., 2019

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR004014	Cation-transporting P-type ATPase, N-terminal
Domain	IPR044492	P-type ATPase, haloacid dehalogenase domain
Domain	IPR047819	P5B-type ATPase, N-terminal
Family	IPR001757	P-type ATPase
Family	IPR006544	P-type ATPase, subfamily V
Family	IPR047821	P5B-type ATPase
Homologous_superfamily	IPR008250	P-type ATPase, A domain superfamily
Homologous_superfamily	IPR023214	HAD superfamily
Homologous_superfamily	IPR023298	P-type ATPase, transmembrane domain superfamily
Homologous_superfamily	IPR023299	P-type ATPase, cytoplasmic domain N
Homologous_superfamily	IPR036412	HAD-like superfamily
PTM	IPR018303	P-type ATPase, phosphorylation site