Annotation Details for ATP13A4

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Basic Information Top

Gene Symbol:	ATP13A4 ( DKFZp761I1011,MGC126545 )
Gene Full Name:	ATPase type 13A4
Band:	3q29
Quick Links	Entrez ID:84239; OMIM: 609556; Uniprot ID:AT134_HUMAN; ENSEMBL ID: ENSG00000127249; HGNC ID: 25422
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:3 results
Molecular Function:4 results
Biological Process:4 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0005886	TAS	-	plasma membrane	-
GO:0005887	IBA	-	integral component of plasma membrane	-
GO:0043231	IBA	-	intracellular membrane-bounded organelle	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0005388	IBA	-	calcium-transporting ATPase activity	-
GO:0005524	IEA	-	ATP binding	-
GO:0019829	TAS	-	cation-transporting ATPase activity	-
GO:0046872	IEA	-	metal ion binding	-

GO ID	Evidence	Qualifier	GO_term	References
GO:0006874	IBA	-	cellular calcium ion homeostasis	-
GO:0034220	TAS	-	ion transmembrane transport	-
GO:0070588	IEA	-	calcium ion transmembrane transport	-
GO:0099132	IEA	-	ATP hydrolysis coupled cation transmembrane transport	-

Protein-Protein Interaction

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1924456
Data Attributes: HomoloGene calculated

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

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