Homo Sapiens
ATP13A2 - ATPase cation transporting 13A2
Alias:
CLN12
KRPPD
PARK9
SPG78
HSA9947
Human disease related genes
Plasma proteins
Potential drug targets
Transporters
Basic Information
Sequence Homology
Genomic Information
Disease & Mutation
Transcripts & Proteins
Gene Expression
Subcellular Localization
Protein Interaction
Drugs
Basic Information
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]
About ATP13A2
Related ID:
Transcript:This gene currently contains 40 transcripts in the database.
Protein:40 protein isoforms have been identified for this gene.
Chromosome:This gene is located on chromosome 1.
Exon:This gene is found to have 29 exons.
Gene length:This gene has a full length of 25971 base pairs.
Sequence Homology
Humans, mice, and rats have highly similar genes, making them important for disease research and drug development. By studying their gene relationships, researchers can develop effective treatments for both humans and animals. Gene homology among these organisms allows for the translation of animal experimental results to humans, improving disease treatment and prevention.
Genomic Information
Genomic information encompasses all genetic information about an organism's or population's genome, including its content, structure, and function.The study of genomic data can help us better comprehend the genetic traits and evolutionary history of species, uncover the link between genes and phenotypes, investigate disease mechanisms, and provide the groundwork for customized therapy.
Genome location
Assembly
Chromosome
Location
Gene size
Orientation
Database
No data available
This section is currently in development, please stay tuned for our data updates.
Disease & Mutation
We collected over two million mutation sites from the ClinVar database and classified them at RDDC. Based on the categories assigned by ClinVar, we conducted a rigorous screening and filtered out low-quality mutation sites to ensure data accuracy.
Pathogenicity Classification
Transcripts & Proteins
Transcripts are RNA molecules that are created during DNA transcription, and the translation products of these transcripts are proteins that serve numerous roles in the body. Transcripts and proteins are both important in biological research. The research of transcripts can help us uncover the subtle links between genes and illnesses, whereas the study of proteins can help us understand the processes of cellular function and disease etiology, as well as give prospective treatment targets.
Gene Expression
The larger the RPKM calculation result, the higher the expression level of the corresponding gene.
RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues.
Organ
Expression
Alphabetical
Subcellular Localization
Subcellular localization is the process of locating certain molecules or cell structures. It is highly valuable for study in the life sciences.It aids in the understanding of physiological processes and cell functioning by researchers. A thorough understanding of critical processes such cell tissue shape, signal transduction, and metabolic pathways will give a solid foundation for the detection and treatment of illnesses by identifying the locations of molecules within cells.
Distribution of ATP13A2 protein:
Protein Interaction
Protein-protein interaction is when two or more proteins bind together to perform their functions. It plays a vital role in most biochemical processes, such as signal molecules transmitting signals between cells. Molecular machines within the cells perform important functions through protein-protein interactions.
Protein 1
Protein 2
Entrez ID
Description
Score
No data available
Drugs
Gene target medications are a novel form of treatment that can alter genes or proteins while also blocking disease processes. It precisely detects and chooses target proteins in order to induce therapeutic effects. Target medications are categorized into several groups based on disease causes and molecular foundation, and numerous ways are employed to treat illnesses.
Name
CAS Number
Status
Phase
Group
Mechanism of Action
Link
No data available
BioGPT