KDM5D

Chr Y

lysine demethylase 5D

Also known as: HY, HYA, JARID1D, SMCY

NCBI Gene: 8284 ENSG00000012817 UniProt: Q9BY66

The encoded protein is a histone demethylase that specifically removes methyl groups from lysine-4 of histone H3, playing a central role in gene expression regulation and transcriptional repression. KDM5D is located on the Y chromosome and follows Y-linked inheritance, meaning mutations are passed from fathers to sons only. The gene is highly constrained against loss-of-function variants, but specific disease associations have not been established in the provided data.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein containing zinc finger domains. A short peptide derived from this protein is a minor histocompatibility antigen which can lead to graft rejection of male donor cells in a female recipient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.36

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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