RHNO1

Chr 12

RAD9-HUS1-RAD1 interacting nuclear orphan 1

Also known as: C12orf32, HKMT1188, RHINO

NCBI Gene: 83695 ENSG00000171792 UniProt: Q9BSD3 OMIM: 614085

The RHNO1 protein facilitates DNA repair through microhomology-mediated end-joining during mitosis and participates in DNA damage response signaling during S-phase by recruiting repair machinery to double-strand breaks. Mutations cause autosomal recessive intellectual disability with developmental delay, seizures, and distinctive facial features, typically presenting in early childhood. The gene shows low constraint to loss-of-function variation (pLI 0.003, LOEUF 1.25), which is consistent with recessive inheritance where heterozygous carriers are typically unaffected.

OMIM ResearchSummary from RefSeq, UniProt

Enables chromatin-protein adaptor activity. Involved in several processes, including DNA repair; cellular response to radiation; and regulation of cell cycle process. Located in chromosome and nucleus. Is active in chromatin and site of double-strand break. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.25

LOEUF

Mechanism· predicted