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 Ion channel transport and Cardiac conduction. Gene Ontology (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
-
ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Required for a proper lysosomal and mitochondrial maintenance (PubMed:22296644, PubMed:28137957).
Additional gene information for ATP13A2 Gene
- Monarch Initiative
- Search for ATP13A2 at DataMed
- Search for ATP13A2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP13A2 Gene
Genomics for ATP13A2 Gene
GeneHancer (GH) Regulatory Elements for ATP13A2 Gene
Promoters and enhancers for ATP13A2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ATP13A2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for ATP13A2 Gene
Genomic Locations for ATP13A2 Gene
- chr1:16,985,958-17,011,972
- (GRCh38/hg38)
- Size:
- 26,015 bases
- Orientation:
- Minus strand
- chr1:17,312,453-17,338,423
- (GRCh37/hg19)
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:
- 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
- Autophosphorylated.
- Ubiquitination at posLast=6868, posLast=143143, posLast=693693, Lys835, posLast=843843, and posLast=859859
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
-
Abcam antibodies for ATP13A2
- Invitrogen Antibodies for ATP13A2
- 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
- Origene Custom Protein Services for ATP13A2
- Novus Biologicals proteins for ATP13A2
- Search GeneTex for Proteins for ATP13A2
-
Abcam proteins for ATP13A2
Assay Products
Domains & Families for ATP13A2 Gene
Gene Families for ATP13A2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
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:
- ATPase that plays a role in intracellular cation homeostasis and the maintenance of neuronal integrity (PubMed:22186024). Required for a proper lysosomal and mitochondrial maintenance (PubMed:22296644, PubMed:28137957).
Enzyme Numbers (IUBMB) for ATP13A2 Gene
Phenotypes From GWAS Catalog 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
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ViGene Biosciences ready-to-package AAV shRNAs for ATP13A2 gene
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CRISPR Products
-
OriGene CRISPR knockouts for ATP13A2
- genomics-online: gRNA clones - Search results for 97 available ATP13A2 gene related products
- Overview of 97 available ATP13A2 gene related products
- Applied Biological Materials CRISPR for ATP13A2
-
Vectors and viruses for KO, Activation, Repression, and more
-
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 shrna, sirna, and RNAi products in human, mouse, rat for ATP13A2
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- genomics-online: shRNA clones - Search results for 97 available ATP13A2 gene related products
- Overview of 97 available ATP13A2 gene related products
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ViGene Biosciences ready-to-package AAV shRNAs for ATP13A2 gene
Clone Products
-
OriGene ORF clones in human for ATP13A2
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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
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. Lysosome membrane.
| 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 | IDA,IEA | 16964263 |
| GO:0005765 | lysosomal membrane | TAS | 25548531 |
| GO:0005770 | late endosome | IDA | 25392495 |
| GO:0005771 | multivesicular body | TAS | 25548531 |
| GO:0005776 | autophagosome | IDA | 24603074 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP13A2 Gene
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
IID
UniProtKB
| 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
- genomics-online: gRNA clones - Search results for 97 available ATP13A2 gene related products
- Overview of 97 available ATP13A2 gene related products
- Applied Biological Materials CRISPR for ATP13A2
-
Vectors and viruses for KO, Activation, Repression, and more
-
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 shrna, sirna, and RNAi products in human, mouse, rat for ATP13A2
- Browse OriGene Inhibitory RNA Products For ATP13A2
- genomics-online: shRNA clones - Search results for 97 available ATP13A2 gene related products
- Overview of 97 available ATP13A2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for ATP13A2 gene
Clone Products
-
OriGene ORF clones in human for ATP13A2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Applied Biological Materials Clones for ATP13A2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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
- genomics-online: primer clones - Search results for 97 available ATP13A2 gene related products
- Overview of 97 available ATP13A2 gene related products
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 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ATP13A2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | ATP13A2 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Atp13a2 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Atp13a2 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ATP13A2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ATP13A2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ATP13A2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.2717 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atp13a2 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG32000 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | catp-7 34 |
|
ManyToMany | |
| catp-6 34 |
|
ManyToMany | |||
| catp-5 34 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YPK9 34 |
|
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 | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519289 | pathogenic, Spastic paraplegia 78, autosomal recessive | 16,986,346(-) | G/A | coding_sequence_variant, missense_variant, stop_gained | |
| rs1057519290 | pathogenic, Spastic paraplegia 78, autosomal recessive | 16,986,886(-) | AGAAGA/AGA | coding_sequence_variant, inframe_deletion | |
| rs1057519291 | paraplegia 78, autosomal recessive (SPG78) [MIM:617225], pathogenic, Spastic paraplegia 78, autosomal recessive | 16,993,828(-) | G/A | coding_sequence_variant, intron_variant, missense_variant | |
| rs1057519292 | pathogenic, Spastic paraplegia 78, autosomal recessive | 17,004,805(-) | G/A | coding_sequence_variant, stop_gained | |
| rs1057519293 | pathogenic, Spastic paraplegia 78, autosomal recessive | 16,996,262(-) | G/A | coding_sequence_variant, stop_gained |
| 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)
Additional Variant Information for ATP13A2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP13A2 Gene
Disorders for ATP13A2 Gene
(15) MalaCards diseases for ATP13A2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kufor-rakeb syndrome |
|
|
| spastic paraplegia 78, autosomal recessive |
|
|
| parkinson disease type 9 |
|
|
| juvenile-onset parkinson disease |
|
|
| neuronal ceroid lipofuscinosis |
|
|
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:22296644, ECO:0000269 PubMed:22388936, ECO:0000269 PubMed:22768177, ECO:0000269 PubMed:28137957}. 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}.
- Spastic paraplegia 78, autosomal recessive (SPG78) [MIM:617225]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:27217339, ECO:0000269 PubMed:28137957}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ATP13A2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ATP13A2 Gene
Publications for ATP13A2 Gene
- ATP13A2 variability in Parkinson disease. (PMID: 19085912) Vilariño-Güell C … Farrer MJ (Human mutation 2009) 3 4 44 58
- Novel ATP13A2 variant associated with Parkinson disease in Taiwan and Singapore. (PMID: 19015489) Lin CH … Wu RM (Neurology 2008) 3 4 44 58
- ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease. (PMID: 17485642) Di Fonzo A … Bonifati V (Neurology 2007) 3 4 44 58
- Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. (PMID: 16964263) Ramirez A … Kubisch C (Nature genetics 2006) 2 3 4 58
- Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). (PMID: 28137957) Estrada-Cuzcano A … Schüle R (Brain : a journal of neurology 2017) 3 4 58
Products for ATP13A2 Gene
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- OriGene Purified Proteins for ATP13A2
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP13A2
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- OriGene qPCR primer pairs for ATP13A2
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ATP13A2
- GenScript: Next-day shipping of latest version cDNA ORF clones for ATP13A2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ATP13A2
- GenScript Custom Assay Services for ATP13A2
- GenScript Custom overexpressing Cell Line Services for ATP13A2
- GenScript: Design CRISPR guide RNA sequences for ATP13A2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ATP13A2
- Cell Signaling Technology (CST) Antibodies for ATP13A2 (ATP13A2)
- Search for Antibodies & Assays
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for ATP13A2
- Novus Biologicals proteins for ATP13A2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for ATP13A2
- Abcam proteins for ATP13A2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for ATP13A2
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- antibodies-online: Search results for 66 available ATP13A2 Antibodies ranked by validation data
- Compare Top ATP13A2 Antibodies
- antibodies-online: Search results for 7 available ATP13A2 Elisa Kits ranked by validation data
- Compare Top ATP13A2 Elisa Kits
- Recommended
- antibodies-online: Search results for 9 available ATP13A2 Proteins ranked by validation data
- Compare Top ATP13A2 Proteins
- 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
- genomics-online: cdna clones - Search results for 97 available ATP13A2 gene related products
- Overview of 97 available ATP13A2 gene related products
- orf clones - Search results for 97 available ATP13A2 gene related products
- Overview of 97 available ATP13A2 gene related products
- genomics-online: gRNA clones - Search results for 97 available ATP13A2 gene related products
- Overview of 97 available ATP13A2 gene related products
- genomics-online: primer clones - Search results for 97 available ATP13A2 gene related products
- Overview of 97 available ATP13A2 gene related products
- genomics-online: shRNA clones - Search results for 97 available ATP13A2 gene related products
- Overview of 97 available ATP13A2 gene related products
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) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew