PPIP5K2 rs35671301: Understanding This Rare Genetic Variant
The rs35671301 variant is a rare genetic change located within the PPIP5K2 gene. This gene is primarily associated with the regulation of cellular homeostasis and has been linked to hereditary sensorineural hearing loss in some research contexts.
What each genotype means
Typical PPIP5K2 activity
This genotype represents the most common genetic sequence found in the general population for this location in the PPIP5K2 gene. There is no evidence to suggest this specific configuration contributes to the hereditary eye conditions or phosphatase activity reductions associated with rare variants in this gene.
This is the predominant genotype observed across all major global ancestry groups.
Carrier of rare variant
Carrying one copy of this variant means you possess a genetic change that has been linked in research to reduced phosphatase activity in laboratory settings. Because this variant is rare and associated with hereditary eye disease, you should discuss these findings with a genetic counselor or clinician to understand if this result is relevant to your personal or family health history.
This genotype is rare and found at very low frequencies in global population databases.
Potential reduced enzyme activity
This genotype indicates that both copies of the PPIP5K2 gene carry this specific variant, which has been associated with reduced phosphatase activity in vitro and potential links to hereditary eye disease. As this is a rare finding, it is important to consult with a medical professional or genetic specialist to interpret this result in the context of your clinical presentation.
This genotype is extremely rare and is not typically observed in the general population.
What is the rs35671301 Variant?
The rs35671301 variant is a specific single nucleotide polymorphism (SNP) found within the PPIP5K2 gene. In genetics, a SNP represents a variation at a single position in the DNA sequence among individuals. This particular variant is located in an exonic region, meaning it sits within the part of the gene that provides instructions for building proteins. Because it is located in a coding region, researchers investigate whether such changes might alter the structure or function of the resulting protein. This variant is classified as rare, meaning it is not commonly found in the general population. Geneticists study these rare variants to understand how specific changes in our DNA code might contribute to biological differences or, in some cases, the development of hereditary conditions.
The Role of the PPIP5K2 Gene
The PPIP5K2 gene encodes an enzyme known as diphosphoinositol pentakisphosphate kinase 2. Despite its name, which suggests it belongs to a family of proteins called histidine acid phosphatases, the protein primarily functions as a kinase. Kinases are enzymes that facilitate the transfer of phosphate groups to other molecules. Specifically, PPIP5K2 is involved in synthesizing high-energy inositol pyrophosphates. These molecules act as critical signaling agents within cells, helping to regulate cellular homeostasis—the process by which cells maintain a stable internal environment. Research indicates that this signaling pathway is particularly important for the maintenance and function of hair cells in the inner ear, which are essential for hearing. Disruptions in this gene's function have been studied in the context of autosomal recessive deafness.
Research Associations and Evidence
Scientific literature has linked mutations in the PPIP5K2 gene to hereditary conditions, most notably autosomal recessive sensorineural hearing loss. Research, such as studies published in journals like OMIM, has identified specific transitions in the gene that result in amino acid substitutions, potentially impacting the protein's enzymatic activity. While some studies suggest that certain variants may reduce phosphatase or kinase activity in laboratory settings, the evidence for the clinical significance of any single variant can vary. It is important to note that the evidence strength for many rare variants remains moderate or limited, as large-scale population data is still being collected. Researchers continue to investigate how these molecular changes translate into clinical phenotypes, and findings are often specific to the families or cohorts studied.
Population Frequency and Interpretation
The rs35671301 variant is characterized as rare across global populations. In genomics, a rare variant is typically defined as one that appears in a very small percentage of the population. Because of its low frequency, it is difficult to establish broad statistical associations compared to more common genetic markers. Current databases, such as DECIPHER and other genomic repositories, often contain limited open-access data for specific rare variants in this gene. This scarcity of data means that our understanding of its distribution across different ancestral groups is still evolving. When interpreting information about rare variants, it is essential to recognize that the presence of a variant does not automatically imply a clinical diagnosis. Genetic variation is a natural part of human diversity, and many rare variants have no known impact on health.
Navigating Genetic Information
If you have received information about the rs35671301 variant through genetic testing, it is important to approach the results with perspective. Genetic information is complex, and the presence of a variant in a gene associated with a condition does not necessarily mean an individual will develop that condition. Many factors, including other genes and environmental influences, contribute to health outcomes. You cannot use this information to self-diagnose or make medical decisions. If you are concerned about your genetic results or family history, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can help interpret your results in the context of your personal health history and provide guidance on whether further clinical evaluation is necessary.
How common is this variant?
The rs35671301 variant is considered rare, appearing at a very low frequency in global population databases.
Frequently asked questions
What does it mean if I have the rs35671301 variant?
Having a rare variant like rs35671301 simply means your DNA sequence differs from the reference genome at that specific location. It does not automatically mean you have a health condition, as many rare variants are benign.
Is PPIP5K2 associated with hearing loss?
Yes, mutations in the PPIP5K2 gene have been linked to hereditary sensorineural hearing loss in some research studies. However, this is typically associated with specific, often homozygous, mutations rather than the presence of a single variant alone.
Should I be worried about my PPIP5K2 results?
Genetic results should not cause alarm, as they are only one piece of a much larger health puzzle. If you are concerned, discuss your findings with a doctor or a genetic counselor who can provide context based on your personal and family history.
Where can I find more information about this gene?
You can find reliable information about genes and variants through resources like the NCBI Gene database, OMIM, and MedlinePlus Genetics. These sites provide curated, scientific summaries of gene functions and associated research.
Sources & further reading
Educational information only, last refreshed 10/6/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs35671301?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29