Aliases for ATP13A2 Gene
Aliases for ATP13A2 Gene
External Ids for ATP13A2 Gene
- HGNC: 30213
- Entrez Gene: 23400
- Ensembl: ENSG00000159363
- OMIM: 610513
- UniProtKB: Q9NQ11
Previous HGNC Symbols for ATP13A2 Gene
- PARK9
Previous GeneCards Identifiers for ATP13A2 Gene
- GC01M017058
- GC01M017185
- GC01M017312
- GC01M015556
Summaries for ATP13A2 Gene
-
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]
GeneCards Summary for ATP13A2 Gene
ATP13A2 (ATPase 13A2) is a Protein Coding gene. Diseases associated with ATP13A2 include Kufor-Rakeb Syndrome and Spastic Paraplegia 78, Autosomal Recessive. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include nucleotide binding and cation-transporting ATPase activity. An important paralog of this gene is ATP13A3.
UniProtKB/Swiss-Prot for ATP13A2 Gene
-
May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP13A2 Gene
Genomics for ATP13A2 Gene
Regulatory Elements for ATP13A2 Gene
Enhancers for ATP13A2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ATP13A2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for ATP13A2 Gene
- Chromosome:
- 1
- Start:
- 16,985,958 bp from pter
- End:
- 17,011,972 bp from pter
- Size:
- 26,015 bases
- Orientation:
- Minus strand
Genomic View for ATP13A2 Gene
Genes around ATP13A2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p36.13 by Ensembl
- 1p36.13 by Entrez Gene
- 1p36.13 by HGNC
ATP13A2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ATP13A2 Gene
Proteins for ATP13A2 Gene
-
Protein details for ATP13A2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9NQ11-AT132_HUMAN
- Recommended name:
- Probable cation-transporting ATPase 13A2
- Protein Accession:
- Q9NQ11
- O75700
- Q5JXY1
- Q5JXY2
- Q6S9Z9
Protein attributes for ATP13A2 Gene
- Size:
- 1180 amino acids
- Molecular mass:
- 128794 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=CAA08912.1; Type=Frameshift; Positions=1054; Evidence={ECO:0000305};
Protein Expression for ATP13A2 Gene
Selected DME Specific Peptides for ATP13A2 Gene
- Q9NQ11:
-
- SSLTGES
- TGESIPV
- DKTGTLT
- ALKAADVGI
- VFARMAP
- FPFSSALQRM
- FKYMALYS
- VPPALPA
- TGDNLQTA
- VGMCGDGANDCGALK
Post-translational modifications for ATP13A2 Gene
Other Protein References for ATP13A2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for ATP13A2 (ATP13A2)
-
Custom Antibody ServicesOriGene Antibodies for ATP13A2
- Novus Biologicals Antibodies for ATP13A2
- Invitrogen Antibodies for ATP13A2
- antibodies-online Antibodies for ATP13A2: See all 51
- Search GeneTex for Antibodies for ATP13A2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATP13A2
Protein Products
-
OriGene Purified Proteins for ATP13A2
- Search Origene for MassSpec and Protein Over-expression Lysates for ATP13A2
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- Novus Biologicals proteins for ATP13A2
- Search GeneTex for Proteins for ATP13A2
Assay Products
- antibodies-online Kits for ATP13A2: See all 2
Domains & Families for ATP13A2 Gene
Gene Families for ATP13A2 Gene
Protein Domains for ATP13A2 Gene
Suggested Antigen Peptide Sequences for ATP13A2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NQ11UniProtKB/Swiss-Prot:
AT132_HUMAN :- Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.
- Family:
-
- Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type V subfamily.
Function for ATP13A2 Gene
Molecular function for ATP13A2 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + H(2)O = ADP + phosphate.
- UniProtKB/Swiss-Prot Function:
- May play a role in intracellular cation homeostasis and the maintenance of neuronal integrity.
Enzyme Numbers (IUBMB) for ATP13A2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005388 | calcium-transporting ATPase activity | IBA | -- |
| GO:0005515 | protein binding | IPI | 22645275 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0008270 | zinc ion binding | ISS | 22361905 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for ATP13A2 Gene
- MGI mutant phenotypes for ATP13A2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ATP13A2:
Animal Models for ATP13A2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for ATP13A2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP13A2 gene
- Search ViGene Biosciences for ATP13A2
CRISPR Products
-
OriGene CRISPR knockouts for ATP13A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP13A2
- GenScript: Design CRISPR guide RNA sequences for ATP13A2
miRNA for ATP13A2 Gene
- miRTarBase miRNAs that target ATP13A2
miRNA Products
- Search ViGene Biosciences for ATP13A2
Inhibitory RNA Products
- Origene siRNA, RNAi, and shRNA products in human, mouse, rat for ATP13A2
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-
ViGene Biosciences ready-to-package AAV shRNAs for ATP13A2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ATP13A2
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ATP13A2
-
ViGene Biosciences adenoviral particle packaged cDNA for ATP13A2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ATP13A2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP13A2 gene
Flow Cytometry Products
No data available for Transcription Factor Targets and HOMER Transcription for ATP13A2 Gene
Localization for ATP13A2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATP13A2 Gene
- Membrane; Multi-pass membrane protein. Lysosome.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| lysosome | 5 |
| endosome | 5 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005764 | lysosome | IEA,IDA | 16964263 |
| GO:0005765 | lysosomal membrane | TAS | 25548531 |
| GO:0005770 | late endosome | IDA | 25392495 |
| GO:0005771 | multivesicular body | TAS | 25548531 |
| GO:0005776 | autophagosome | IDA | 24603074 |
Pathways & Interactions for ATP13A2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Neuroscience | ||
| 2 | Ion channel transport | ||
| 3 | Cardiac conduction | ||
| 4 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
Pathways by source for ATP13A2 Gene
1 Cell Signaling Technology pathway for ATP13A2 Gene
3 Reactome pathways for ATP13A2 Gene
Interacting Proteins for ATP13A2 Gene
Selected Interacting proteins:
ENSP00000327214
Q9NQ11-AT132_HUMAN
for ATP13A2 Gene via
STRING
MINT
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006812 | cation transport | IEA | -- |
| GO:0006874 | cellular calcium ion homeostasis | IDA | 22186024 |
| GO:0006879 | cellular iron ion homeostasis | IMP | 26818499 |
| GO:0006882 | cellular zinc ion homeostasis | IMP | 24603074 |
| GO:0010821 | regulation of mitochondrion organization | IMP | 22198378 |
No data available for SIGNOR curated interactions for ATP13A2 Gene
Drugs & Compounds for ATP13A2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
Transcripts for ATP13A2 Gene
mRNA/cDNA for ATP13A2 Gene
- (18) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (154) Selected AceView cDNA sequences:
- (15) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for ATP13A2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP13A2
- GenScript: Design CRISPR guide RNA sequences for ATP13A2
miRNA Products
- Search ViGene Biosciences for ATP13A2
Inhibitory RNA Products
- Origene siRNA, RNAi, and shRNA products in human, mouse, rat for ATP13A2
- Browse OriGene Inhibitory RNA Products For ATP13A2
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP13A2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ATP13A2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATP13A2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: |
| 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: | - | - | |||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP9: | - | ||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||
| SP11: |
Expression for ATP13A2 Gene
This gene is overexpressed in Breast (54.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATP13A2 Gene
NURSA nuclear receptor signaling pathways regulating expression of ATP13A2 Gene:
ATP13A2SOURCE GeneReport for Unigene cluster for ATP13A2 Gene:
Hs.128866mRNA Expression by UniProt/SwissProt for ATP13A2 Gene:
Q9NQ11-AT132_HUMAN
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 level). In the substantia nigra, it is found in neuromelanin-positive dopaminergic neurons (at protein level).
Evidence on tissue expression from TISSUES for ATP13A2 Gene
- Nervous system(4.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP13A2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- face
- head
- neck
- nose
- olfactory bulb
Limb:
- foot
- lower limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for ATP13A2
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ATP13A2 Gene
Orthologs for ATP13A2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ATP13A2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ATP13A2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ATP13A2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Atp13a2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Atp13a2 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ATP13A2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ATP13A2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ATP13A2 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
ManyToMany | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2717 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atp13a2 35 34 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG32000 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | catp-7 35 |
|
ManyToMany | |
| catp-6 35 |
|
ManyToMany | |||
| catp-5 35 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YPK9 35 |
|
OneToMany |
- Species where no ortholog for ATP13A2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for ATP13A2 Gene
(3) SIMAP similar genes for ATP13A2 Gene using alignment to 9 proteins:
Variants for ATP13A2 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121918227 | Pathogenic, Kufor-Rakeb syndrome (KRS) [MIM:606693] | 16,996,008(-) | ACCTG(C/G)GGGGC | reference, missense | |
| rs137853967 | Kufor-Rakeb syndrome (KRS) [MIM:606693] | 16,986,864(-) | GTACC(G/T)CATCC | reference, missense | |
| rs144701072 | Pathogenic, Kufor-Rakeb syndrome (KRS) [MIM:606693] | 16,988,455(+) | GTCTC(C/T)GCACA | reference, missense | |
| rs147277743 | Kufor-Rakeb syndrome (KRS) [MIM:606693] | 16,991,749(+) | GACGG(C/T)GCGGA | reference, missense | |
| rs151117874 | Kufor-Rakeb syndrome (KRS) [MIM:606693] | 17,005,754(+) | TGGGC(A/G)TGCTG | reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv108n100 | CNV | gain | 25217958 |
| dgv120n100 | CNV | gain | 25217958 |
| dgv92n100 | CNV | gain | 25217958 |
| esv2758925 | CNV | gain+loss | 17122850 |
| esv3360661 | CNV | insertion | 20981092 |
| nsv428421 | CNV | gain+loss | 18775914 |
| nsv508947 | CNV | insertion | 20534489 |
| nsv834269 | CNV | loss | 17160897 |
| nsv834280 | CNV | loss | 17160897 |
| nsv954854 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
14.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.07;
50.72% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ATP13A2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP13A2 Gene
Disorders for ATP13A2 Gene
(16) MalaCards diseases for ATP13A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kufor-rakeb syndrome |
|
|
| spastic paraplegia 78, autosomal recessive |
|
|
| cln12 disease |
|
|
| neuronal ceroid-lipofuscinoses |
|
|
| juvenile-onset parkinson disease |
|
|
Search ATP13A2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
AT132_HUMAN- Kufor-Rakeb syndrome (KRS) [MIM:606693]: A rare form of autosomal recessive juvenile or early-onset, levodopa-responsive parkinsonism. In addition to typical parkinsonian signs, clinical manifestations of Kufor-Rakeb syndrome include behavioral problems, facial tremor, pyramidal tract dysfunction, supranuclear gaze palsy, and dementia. {ECO:0000269 PubMed:16964263, ECO:0000269 PubMed:17485642, ECO:0000269 PubMed:18413573, ECO:0000269 PubMed:20683840, ECO:0000269 PubMed:20853184, ECO:0000269 PubMed:21542062, ECO:0000269 PubMed:22388936}. Note=The disease is caused by mutations affecting the gene represented in this entry. KRS has also been referred to as neuronal ceroid lipofuscinosis 12 (CLN12), due to neuronal and glial lipofuscin deposits detected in the cortex, basal nuclei and cerebellum of some patients. {ECO:0000269 PubMed:22388936}.
Relevant External Links for ATP13A2
No data available for Genatlas for ATP13A2 Gene
Publications for ATP13A2 Gene
- ATP13A2 variability in Parkinson disease. (PMID: 19085912) Vilarino-Guell C. … Farrer M.J. (Hum. Mutat. 2009) 3 4 46 64
- Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore. (PMID: 19015489) Lin C.H. … Wu R.M. (Neurology 2008) 3 4 46 64
- ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. (PMID: 17485642) Di Fonzo A. … Bonifati V. (Neurology 2007) 3 4 46 64
- Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. (PMID: 16964263) Ramirez A. … Kubisch C. (Nat. Genet. 2006) 2 3 4 64
- PARK9-associated ATP13A2 localizes to intracellular acidic vesicles and regulates cation homeostasis and neuronal integrity. (PMID: 22186024) Ramonet D. … Moore D.J. (Hum. Mol. Genet. 2012) 3 4 64
Products for ATP13A2 Gene
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- Search GeneTex for Antibodies for ATP13A2
- Search GeneTex for Proteins for ATP13A2
- ViGene Biosciences adenoviral particle packaged cDNA for ATP13A2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for ATP13A2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for ATP13A2 gene
- Search ViGene Biosciences for ATP13A2
- Santa Cruz Biotechnology (SCBT) Antibodies for ATP13A2
- Search Santa Cruz Biotechnology (SCBT) for ATP13A2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ATP13A2
- Horizon Cell Lines for ATP13A2
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATP13A2
- VectorBuilder custom plasmid, inducible vectors for ATP13A2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ATP13A2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for ATP13A2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer