KCNJ13 encodes potassium inwardly rectifying channel subfamily J member 13 (360 aa). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Highest expression in Small Intestine Terminal Ileum (21.4 TPM) and Kidney Medulla (1.3 TPM).

Snowflake vitreoretinal degeneration has been associated with mutations in the KCNJ13 gene on chromosome 2.

KCNJ13 is classified as a druggable target (Druggable Genome, Ion Channel, and Transporter categories) with score 0.0.

Genetic testing for KCNJ13 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for snowflake vitreoretinal degeneration has been reported in the published literature.

Phenotype severity distribution: 2 very common features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for snowflake vitreoretinal degeneration.

4 publications have been identified in PubMed for snowflake vitreoretinal degeneration. Research spans Basic Science / Preclinical (50%), Diagnostic / Biomarker (25%), and Epidemiology / Natural History (25%).

Recent Publications

• Wang T (2026). [PMID: 41259080](https://pubmed.ncbi.nlm.nih.gov/41259080/). *The Journal of cell biology*. [Basic Science / Preclinical]

• Pattnaik BR (2026). [PMID: 42199967](https://pubmed.ncbi.nlm.nih.gov/42199967/). *Ophthalmol Sci*. [Epidemiology / Natural History]

• Hu J (2025). [PMID: 40413298](https://pubmed.ncbi.nlm.nih.gov/40413298/). *Discover oncology*. [Diagnostic / Biomarker]

• Tworak A (2025). [PMID: 40249779](https://pubmed.ncbi.nlm.nih.gov/40249779/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]