HEAT repeat containing 2 pseudogene

HEAT repeat containing 2 pseudogene (ENSG00000270228) is classified as a pseudogene, meaning it is a DNA sequence similar to a functional gene (HEAT repeat containing 2, commonly abbreviated as HEATR2), but has lost the ability to encode a functional protein due to mutations or loss of regulatory elements[3][7][9].\nPseudogenes like this may sometimes be transcribed and serve as gene expression regulators through RNA-based mechanisms, but generally they do not mediate direct biological functions or serve as therapeutic targets[1][5]. No known disease associations, drug interactions, or biomarker roles are documented for this specific pseudogene. The canonical parent gene, HEATR2, contains HEAT repeats—a structural motif involved in intracellular transport—but the pseudogene variant has no evidence of similar activity[2][4][6].\n\nSummary of status:\nThis is not a protein-coding gene, is not a therapeutic target, and is not functionally characterized. Its main relevance is as a genomic relic of gene duplication or retrotransposition[3][9]. The entry is likely only of interest for reference genome annotation and evolutionary studies.\nNo therapeutic, receptor, or functional attributes apply.\n\nKey references:\nGeneCards lists this as a pseudogene and not a functional protein[7].\nHGNC’s pseudogene guidelines confirm loss of function as a defining feature[3].\nPseudogenes are generally not considered therapeutic targets or functional receptors[1][5][9].

Other names

HEATR2 pseudogene