ATP13A2 Gene
protein-coding GIFtS: 54
GCID: GC01M017312
|
|
ATPase type 13A2(Previous name: Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb...)
(Previous symbol: PARK9)
| |
Aliases
for ATP13A2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| ATPase Type 13A21 2 | | Probable Cation-Transporting ATPase 13A22 | | PARK91 2 3 5 | | Putative ATPase2 | | CLN121 2 | | EC 3.6.3.-3 | | HSA99471 2 | | EC 3.6.38 | | KRPPD2 5 | | EC 3.6.3.58 | | Parkinson Disease (Autosomal Recessive) 9 (Kufor-Rakeb Syndrome)1 | | EC 3.6.3.88 |
Export aliases for ATP13A2 gene to outside databasesPrevious GC identifers: GC01M017058 GC01M017185 GC01M015556 |
Summaries
for ATP13A2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ATP13A2:
This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as othersubstrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinsondisease 9. Multiple transcript variants encoding different isoforms have been found for this gene.(provided by RefSeq,Nov 2008)
UniProtKB/Swiss-Prot: AT132_HUMAN, Q9NQ11Function: May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity
Gene Wiki entry for ATP13A2
|
Genomic Views
for ATP13A2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004610.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ATP13A2 gene promoter:
p53 AML1a Pax-5 LUN-1 GATA-1 Max Pax-3 Ik-2 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for ATP13A2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP13A2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1p36 Ensembl cytogenetic band: 1p36.13 HGNC cytogenetic band: 1p36ATP13A2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M017312: view genomic region
(about GC identifiers)
Start:
|
17,312,453 bp from pter |
End:
|
17,338,423 bp from pter |
Size:
|
25,971 bases |
Orientation:
|
minus strand |
|
Proteins
for ATP13A2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: AT132_HUMAN, Q9NQ11 (See
protein sequence)Recommended Name: Probable cation-transporting ATPase 13A2 Size: 1180 amino acids; 128794 Da
Subcellular location: Membrane; Multi-pass membrane protein (By similarity). Lysosome
Secondary accessions: O75700 Q5JXY2 Q6S9Z9Alternative splicing: 3 isoforms: Q9NQ11-1 Q9NQ11-2 Q9NQ11-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for ATP13A2: NX_Q9NQ11
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9NQ11
4/10 DME Specific Peptides for ATP13A2 (Q9NQ11) (see all 10)
ATP13A2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001135445.1 NP_001135446.1 NP_071372.1
ENSEMBL proteins: ENSP00000327214 ENSP00000341115 ENSP00000413307 ENSP00000423065 ENSP00000421126 ENSP00000424393 ENSP00000424313 ENSP00000427241 ENSP00000422227 ENSP00000422668
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
ATP13A2 for ontologies About GeneDecksing
ATP13A2 Antibody Products:
Assay Products for ATP13A2: |
Protein
Domains /
Families
for ATP13A2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ATP13A2 for domains About GeneDecksing
5/8 InterPro domains/families (see all 8):Graphical View of Domain Structure for InterPro Entry Q9NQ11ProtoNet protein and cluster: Q9NQ11 2 Blocks protein families: IPB001757 ATPase IPB008250 E1-E2 ATPase-associated region
UniProtKB/Swiss-Prot: AT132_HUMAN, Q9NQ11Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily |
Function
for ATP13A2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: AT132_HUMAN, Q9NQ11Function: May play a role in intracellular cation homeostasis and the maintenance of neuronal integrityCatalytic activity: ATP + H(2)O = ADP + phosphateEnzyme Numbers (IUBMB): EC 3.6.3.52 EC 3.6.3.82 EC 3.6.32 EC 3.6.3.-1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP13A2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP13A2 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): ATP13A2 (NM_022089) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP13A2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP13A2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP13A2 |
Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000166 | nucleotide binding |
-- | -- | | GO:0005515 | protein binding |
IPI | -- | | GO:0005524 | ATP binding |
IEA | -- | | GO:0015662 | ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism |
IEA | -- | | GO:0016820 | hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances |
-- | -- |
ATP13A2 for ontologies About GeneDecksing
|
Pathways & Interactions
for ATP13A2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Neuroscience | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for ATP13A2
ATP13A2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP13A2
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
5/11 Interacting proteins for ATP13A2 (Q9NQ111, 2, 3 ENSP000003272144) via UniProtKB, MINT, STRING, and/or I2D (see all 11)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006812 | cation transport |
IEA | -- |
ATP13A2 for ontologies About GeneDecksing
|
Drugs & Compounds
for ATP13A2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ATP13A2
Search CenterWatch for drugs/clinical trials and news about ATP13A2 / AT132
|
Transcripts
for ATP13A2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ATP13A2 gene (3 alternative transcripts): NM_001141973.1 NM_001141974.1 NM_022089.2 Unigene Cluster for ATP13A2: ATPase type 13A2 Hs.128866 [show with all ESTs]Unigene Representative Sequence: NM_02208914 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000326735 ENST00000341676 ENST00000452699(uc001baa.2 uc001bab.2 uc001bac.2)
ENST00000466561 ENST00000502418 ENST00000503552 ENST00000463860(uc009vpa.1 uc001bad.1)
ENST00000502860 ENST00000509392 ENST00000506174 ENST00000510069 ENST00000511957
ENST00000508222 ENST00000509619
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP13A2 (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP13A2 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): ATP13A2 (NM_022089) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ATP13A2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATP13A2 |
Additional cDNA sequence: AJ009947.1 AK025928.1 AK075310.1 AK290210.1 AL354615.1 AL833966.1 AY461712.1 AY987009.1 BC030267.1 BC034575.1 11 DOTS entries: DT.444266 DT.100039673 DT.100781975 DT.100781974 DT.100039674 DT.95283330 DT.95360628 DT.100039660 DT.95146554 DT.91712667 DT.95296187 24/154 AceView cDNA sequences (see all 154): AW503042 CR613271 BF725371 BU195927 BQ639456 BQ962923 CD672722 AW503046 BQ129322 CK823571 AA326792 CF243131 BQ068194 R58916 BQ129344 BQ876431 NM_022089 BC034575 BQ068680 AL354615 CA418950 BQ889151 BF001712 CB215966
GeneLoc Exon Structure
5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ATP13A2 (see all 11) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | · | 15c | · | 15d | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | - | | | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | - | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | - | | |
| SP3: | | | | | | | | | | | | | | | | | - | | | | | | | | | | - | | | | | | | | | | | | - | | | | | | | | | | | | - | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| ExUns: | 15e | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · | 18c | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27a | · | 27b | ^ | 28 | ^ | 29a | · | 29b |
|---|
|
| SP1: | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | |
| SP2: | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | |
| SP3: | - | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | - | | - | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | |
ECgene alternative splicing isoforms for ATP13A2
|
Expression
for ATP13A2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ATP13A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATATTTTCCT
About this image
See ATP13A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP13A2
SOURCE GeneReport for Unigene cluster: Hs.128866
UniProtKB/Swiss-Prot: AT132_HUMAN, Q9NQ11Tissue specificity: Expressed in brain; protein levels are markedly increased in brain from subjects with Parkinsondisease and subjects with dementia with Lewy bodies. Detected in pyramidal neurons located throughout the cingulatecortex (at protein level). In the substantia nigra, it is found in neuromelanin-positive dopaminergic neurons (atprotein level)
SABiosciences Custom PCR Arrays for ATP13A2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATP13A2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATP13A2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP13A2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATP13A2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP13A2 |
Orthologs
for ATP13A2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for ATP13A2 gene from 3/19 species (see all 19) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
ATP13A26 |
hypothetical protein LOC419466 |
42(a) |
1 ↔ 1 |
21(4408250-4412858) |
African clawed frog
(Xenopus laevis) |
Amphibia |
Xl.27172 |
Xenopus laevis transcribed sequence with weak similarity more |
76.58(n) |
|
BJ060206.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
atp13a21 |
ATPase type 13A2 |
57.83(n)
53.76(a) |
|
568666 NM_001080037.1 NP_001073506.1 |
ENSEMBL Gene Tree for ATP13A2 (if available)
TreeFam Gene Tree for ATP13A2 (if available) |
Paralogs
for ATP13A2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ATP13A2 gene
- ATP13A32 ATP13A52 ATP13A42
3 SIMAP similar genes for ATP13A2 using alignment to 10 protein entries: AT132_HUMAN (see all proteins):ATP13A4 ATP13A3 ATP13A5
ATP13A2 for paralogs About GeneDecksing
|
Genomic Variants
for ATP13A2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
|
|
|
