• Gene id: 23400

Gene Summary

• Gene Symbol: ATP13A2   Gene   UCSC   Ensembl
• Aliases: CLN12, HSA9947, KRPPD, PARK9, SPG78
• Gene name: ATPase cation transporting 13A2
• Alternate names: cation-transporting ATPase 13A2, ATPase 13A2, ATPase type 13A2, probable cation-transporting ATPase 13A2,
• Gene location: 1p36.13 (2800626: 2794073)     Exons: 14     NC_000020.11
• Gene summary(Entrez): 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 v
• OMIM: 610513

Protein Summary

• Protein general information: Q9NQ11  
  • Name: Cation transporting ATPase 13A2 (EC 7.2.2. )
  • Length: 1180  
  • Mass: 128794
  • Tissue specificity: Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinson disease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulate cortex (at protein leve
• Sequence:

  MSADSSPLVGSTPTGYGTLTIGTSIDPLSSSVSSVRLSGYCGSPWRVIGYHVVVWMMAGIPLLLFRWKPLWGVRL
  RLRPCNLAHAETLVIEIRDKEDSSWQLFTVQVQTEAIGEGSLEPSPQSQAEDGRSQAAVGAVPEGAWKDTAQLHK
  SEEAVSVGQKRVLRYYLFQGQRYIWIETQQAFYQVSLLDHGRSCDDVHRSRHGLSLQDQMVRKAIYGPNVISIPV
  KSYPQLLVDEALNPYYGFQAFSIALWLADHYYWYALCIFLISSISICLSLYKTRKQSQTLRDMVKLSMRVCVCRP
  GGEEEWVDSSELVPGDCLVLPQEGGLMPCDAALVAGECMVNESSLTGESIPVLKTALPEGLGPYCAETHRRHTLF
  CGTLILQARAYVGPHVLAVVTRTGFCTAKGGLVSSILHPRPINFKFYKHSMKFVAALSVLALLGTIYSIFILYRN
  RVPLNEIVIRALDLVTVVVPPALPAAMTVCTLYAQSRLRRQGIFCIHPLRINLGGKLQLVCFDKTGTLTEDGLDV
  MGVVPLKGQAFLPLVPEPRRLPVGPLLRALATCHALSRLQDTPVGDPMDLKMVESTGWVLEEEPAADSAFGTQVL
  AVMRPPLWEPQLQAMEEPPVPVSVLHRFPFSSALQRMSVVVAWPGATQPEAYVKGSPELVAGLCNPETVPTDFAQ
  MLQSYTAAGYRVVALASKPLPTVPSLEAAQQLTRDTVEGDLSLLGLLVMRNLLKPQTTPVIQALRRTRIRAVMVT
  GDNLQTAVTVARGCGMVAPQEHLIIVHATHPERGQPASLEFLPMESPTAVNGVKDPDQAASYTVEPDPRSRHLAL
  SGPTFGIIVKHFPKLLPKVLVQGTVFARMAPEQKTELVCELQKLQYCVGMCGDGANDCGALKAADVGISLSQAEA
  SVVSPFTSSMASIECVPMVIREGRCSLDTSFSVFKYMALYSLTQFISVLILYTINTNLGDLQFLAIDLVITTTVA
  VLMSRTGPALVLGRVRPPGALLSVPVLSSLLLQMVLVTGVQLGGYFLTLAQPWFVPLNRTVAAPDNLPNYENTVV
  FSLSSFQYLILAAAVSKGAPFRRPLYTNVPFLVALALLSSVLVGLVLVPGLLQGPLALRNITDTGFKLLLLGLVT
  LNFVGAFMLESVLDQCLPACLRRLRPKRASKKRFKQLERELAEQPWPPLPAGPLR

• Structural information:
  • Interpro: IPR023299  IPR018303  IPR023298  IPR008250  IPR036412   IPR023214  IPR006544  IPR001757  
  • Prosite: PS00154
  • STRING: ENSP00000327214
• Other Databases: GeneCards:  ATP13A2  Malacards:  ATP13A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0080025	phosphatidylinositol-3,5-bisphosphate binding	IDA	molecular function
GO:0006874	cellular calcium ion homeostasis	IDA	biological process
GO:1901215	negative regulation of neuron death	TAS	biological process
GO:1901215	negative regulation of neuron death	ISS	biological process
GO:1903543	positive regulation of exosomal secretion	IDA	biological process
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005771	multivesicular body	IDA	cellular component
GO:0005771	multivesicular body	IDA	cellular component
GO:0008270	zinc ion binding	ISS	molecular function
GO:0008270	zinc ion binding	ISS	molecular function
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0043005	neuron projection	IDA	cellular component
GO:1905037	autophagosome organization	IDA	biological process
GO:0006879	cellular iron ion homeostasis	IMP	biological process
GO:0006882	cellular zinc ion homeostasis	IMP	biological process
GO:0030145	manganese ion binding	ISS	molecular function
GO:0030145	manganese ion binding	ISS	molecular function
GO:1990938	peptidyl-aspartic acid autophosphorylation	IMP	biological process
GO:1903543	positive regulation of exosomal secretion	IMP	biological process
GO:1903146	regulation of autophagy of mitochondrion	TAS	biological process
GO:0010821	regulation of mitochondrion organization	IDA	biological process
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005771	multivesicular body	TAS	cellular component
GO:0070300	phosphatidic acid binding	IDA	molecular function
GO:1903135	cupric ion binding	ISS	molecular function
GO:0097734	extracellular exosome biogenesis	IMP	biological process
GO:0032585	multivesicular body membrane	NAS	cellular component
GO:0016887	ATPase activity	NAS	molecular function
GO:0005770	late endosome	IDA	cellular component
GO:0005776	autophagosome	IDA	cellular component
GO:0030133	transport vesicle	IDA	cellular component
GO:1905166	negative regulation of lysosomal protein catabolic process	TAS	biological process
GO:0031982	vesicle	IDA	cellular component
GO:0043025	neuronal cell body	IDA	cellular component
GO:0033157	regulation of intracellular protein transport	NAS	biological process
GO:0034599	cellular response to oxidative stress	TAS	biological process
GO:0034599	cellular response to oxidative stress	IMP	biological process
GO:0010821	regulation of mitochondrion organization	IMP	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0016241	regulation of macroautophagy	IMP	biological process
GO:0046777	protein autophosphorylation	TAS	biological process
GO:1905103	integral component of lysosomal membrane	IDA	cellular component
GO:0016243	regulation of autophagosome size	IDA	biological process
GO:1902047	polyamine transmembrane transport	IDA	biological process
GO:1904714	regulation of chaperone-mediated autophagy	TAS	biological process
GO:0016021	integral component of membrane	NAS	cellular component
GO:1905165	regulation of lysosomal protein catabolic process	IGI	biological process
GO:1905165	regulation of lysosomal protein catabolic process	IMP	biological process
GO:0050714	positive regulation of protein secretion	IMP	biological process
GO:0052548	regulation of endopeptidase activity	IMP	biological process
GO:0030003	cellular cation homeostasis	TAS	biological process
GO:0055069	zinc ion homeostasis	IMP	biological process
GO:0071287	cellular response to manganese ion	IMP	biological process
GO:0071287	cellular response to manganese ion	TAS	biological process
GO:0071287	cellular response to manganese ion	TAS	biological process
GO:0071294	cellular response to zinc ion	TAS	biological process
GO:0006874	cellular calcium ion homeostasis	IBA	biological process
GO:0005764	lysosome	IDA	cellular component
GO:2000152	regulation of ubiquitin-specific protease activity	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0006914	autophagy	IMP	biological process
GO:1900180	regulation of protein localization to nucleus	IMP	biological process
GO:0006812	cation transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0019829	ATPase-coupled cation transmembrane transporter activity	TAS	molecular function
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010821	regulation of mitochondrion organization	IEA	biological process
GO:0012506	vesicle membrane	IEA	cellular component
GO:0034599	cellular response to oxidative stress	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:1903543	positive regulation of exosomal secretion	IEA	biological process
GO:0010821	regulation of mitochondrion organization	IEA	biological process
GO:0006914	autophagy	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0055069	zinc ion homeostasis	IEA	biological process
GO:1900180	regulation of protein localization to nucleus	IEA	biological process
GO:1905123	regulation of glucosylceramidase activity	IEA	biological process
GO:1905165	regulation of lysosomal protein catabolic process	IEA	biological process
GO:0016243	regulation of autophagosome size	IEA	biological process
GO:0000421	autophagosome membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0032585	multivesicular body membrane	IEA	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0005765	lysosomal membrane	HDA	cellular component
GO:0061909	autophagosome-lysosome fusion	IMP	biological process
GO:0007041	lysosomal transport	IMP	biological process
GO:0055088	lipid homeostasis	IMP	biological process
GO:1903710	spermine transmembrane transport	IMP	biological process
GO:0061462	protein localization to lysosome	IMP	biological process

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Parkinson disease	KEGG:H00057
Parkinsonian syndrome	KEGG:H01600
Kufor-Rakeb syndrome	KEGG:H02207
Hereditary spastic paraplegia	KEGG:H00266
Parkinson disease	KEGG:H00057
Parkinsonian syndrome	KEGG:H01600
Kufor-Rakeb syndrome	KEGG:H02207
Parkinson's disease	PMID:26223426
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray