Homo sapiens Gene: ATP13A2
Summary
InnateDB Gene IDBG-91664.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ATP13A2
Gene Name ATPase type 13A2
Synonyms CLN12; HSA9947; KRPPD; PARK9;
Species Homo sapiens
Ensembl Gene ENSG00000159363
Encoded Proteins
ATPase type 13A2
ATPase type 13A2
ATPase type 13A2
ATPase type 13A2
ATPase type 13A2
ATPase type 13A2
ATPase type 13A2
ATPase type 13A2
ATPase type 13A2
ATPase type 13A2
ATPase type 13A2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:16985958-17011928
Strand Reverse strand
Band p36.13
Transcripts
ENST00000341676 ENSP00000341115
ENST00000326735 ENSP00000327214
ENST00000452699 ENSP00000413307
ENST00000466561
ENST00000502418 ENSP00000423065
ENST00000503552 ENSP00000421126
ENST00000463860
ENST00000502860
ENST00000509392
ENST00000506174 ENSP00000424393
ENST00000510069 ENSP00000424313
ENST00000511957 ENSP00000427241
ENST00000508222 ENSP00000422227
ENST00000509619 ENSP00000422668
ENST00000617114 ENSP00000478781
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 56 experimentally validated interaction(s) in this database.
Experimentally validated
Total 56 [view]
Protein-Protein 56 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0019829 cation-transporting ATPase activity
GO:0046872 metal ion binding
Biological Process
GO:0006200 ATP catabolic process
GO:0006812 cation transport
GO:0008219 cell death
Cellular Component
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.128866
RefSeq NM_001141973 NM_001141974 NM_022089 XM_005245815
HUGO
OMIM
CCDS CCDS175 CCDS44072 CCDS44073
HPRD 13677
IMGT
EMBL
GenPept
RNA Seq Atlas