Pathway candidateNCBI-verifiedprotein-coding

KMT2D

lysine methyltransferase 2D

NCBI Gene: 8085 Ensembl GeneCards UniProt: O14686

Pathway candidate — not linked to PFS or PSSD by any record here

KMT2D is in the library because it belongs to the epigenetic regulation family. No study, report or commentary in the corpus names it, so a variant in KMT2D is not, by itself, evidence of anything related to post-drug syndromes.

Gene summary

A protein-coding gene on chromosome 12 (epigenetic regulation). The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes.

Source: NCBI Gene, accessed 2026-10-07.

Protein reference (UniProt)

Protein: Histone-lysine N-methyltransferase 2D
Function: Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.
Subcellular location: Nucleus.
Tissue specificity: Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
Associated conditions: Kabuki syndrome 1 (KABUK1); Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH).

Source: UniProtKB/Swiss-Prot O14686, release 2026_03, licensed CC BY 4.0. This is the protein’s normal biology, not evidence about post-drug syndromes; associated conditions are inherited disorders of the gene, not PFS, PSSD or PRSD.

Why its pathway is in the library

Epigenetic persistence is the leading hypothesis for why post-drug syndromes endure after the drug is gone; chromatin regulators are therefore priority candidates in any persistence mechanism.

Written for the whole epigenetic regulation family, not for KMT2D specifically.

Mentioned in 0 corpus records

No corpus record names KMT2D directly yet. It is in the library because it sits in a pathway the corpus tracks (Epigenetic regulation).

Also in epigenetic regulation

All 130 genes

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Gene summary

Source: NCBI Gene, accessed 2026-10-07.

Protein reference (UniProt)

Protein: Histone-lysine N-methyltransferase 2D
Function: Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription.
Subcellular location: Nucleus.
Tissue specificity: Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
Associated conditions: Kabuki syndrome 1 (KABUK1); Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome (BCAHH).