KDM8

Chr 16

lysine demethylase 8 (putative)

Also known as: JMJD5

NCBI Gene: 79831 ENSG00000155666 UniProt: Q8N371 OMIM: 611917

KDM8 encodes a bifunctional enzyme that acts as both an endopeptidase cleaving histone N-terminal tails and a 2-oxoglutarate-dependent monooxygenase, playing critical roles in transcriptional regulation, mitosis, cell cycle progression, and circadian gene expression. The gene shows very low constraint to loss-of-function variants (pLI = 0.00003, LOEUF = 0.836), suggesting tolerance to haploinsufficiency. No established Mendelian diseases have been associated with KDM8 mutations in pediatric populations.

OMIM ResearchSummary from RefSeq, UniProt

This gene likely encodes a histone lysine demethylase. Studies of a similar protein in mouse indicate a potential role for this protein as a tumor suppressor. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.84

LOEUF

Mechanism· predicted