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Gene: ATP13A2 (ATPase cation transporting 13A2) Homo sapiens
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Symbol: ATP13A2
Name: ATPase cation transporting 13A2
Description: Exhibits phosphatidic acid binding activity and phosphatidylinositol-3,5-bisphosphate binding activity. Involved in several processes, including cellular metal ion homeostasis; positive regulation of secretion by cell; and regulation of peptidase activity. Localizes to several cellular components, including the cytoplasmic vesicle; neuronal cell body; and vacuole. Implicated in Kufor-Rakeb syndrome; Parkinson's disease; and hereditary spastic paraplegia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATPase 13A2; ATPase type 13A2; cation-transporting ATPase 13A2; CLN12; FLJ26510; HSA9947; KRPPD; PARK9; Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome); probable cation-transporting ATPase 13A2; putative ATPase; RP1-37C10.4; SPG78
Orthologs:
Mus musculus (house mouse) : Atp13a2 (ATPase type 13A2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Atp13a2 (ATPase cation transporting 13A2)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Atp13a2 (ATPase cation transporting 13A2)
Pan paniscus (bonobo/pygmy chimpanzee) : ATP13A2 (ATPase cation transporting 13A2)
Canis lupus familiaris (dog) : ATP13A2 (ATPase cation transporting 13A2)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Atp13a2 (ATPase cation transporting 13A2)
Sus scrofa (pig) : ATP13A2 (ATPase cation transporting 13A2)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl116,985,958 - 17,011,928 (-)Ensembl
GRCh38116,985,958 - 17,011,972 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37117,312,453 - 17,338,467 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36117,185,040 - 17,210,854 (-)NCBINCBI36hg18NCBI36
Build 34117,057,758 - 17,083,573NCBI
Celera115,634,791 - 15,660,760 (-)NCBI
Cytogenetic Map1p36.13NCBI
HuRef115,556,532 - 15,582,505 (-)NCBIHuRef
CHM1_1117,420,791 - 17,446,805 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
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Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on ATP13A2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1342911
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.