SETMAR

Chr 3

SET and mariner transposase domain methyltransferase

Also known as: METNASE, Mar1

NCBI Gene: 6419 ENSG00000170364 UniProt: Q53H47 OMIM: 609834

The protein is a fusion methyltransferase-transposase that methylates histones H3K4 and H3K36 and functions in DNA double-strand break repair through non-homologous end joining. This gene is extremely intolerant to loss-of-function variants (pLI = 1.0), suggesting that mutations would likely cause severe developmental phenotypes, though no specific human disease has been definitively associated with SETMAR mutations to date. The gene exists as a fusion only in anthropoid primates, making it evolutionarily unique among DNA repair genes.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a fusion protein that contains an N-terminal histone-lysine N-methyltransferase domain and a C-terminal mariner transposase domain. The encoded protein binds DNA and functions in DNA repair activities including non-homologous end joining and double strand break repair. The SET domain portion of this protein specifically methylates histone H3 lysines 4 and 36. This gene exists as a fusion gene only in anthropoid primates, other organisms lack mariner transposase domain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.13

LOEUF

Multiple*

Mechanism· predicted