lysine methyltransferase 2D
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Anophthalmia or microphthalmia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedClefting
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCongenital hyperinsulinism
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCOVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDeafness and congenital structural abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown+13 more panels — install the extension to see the full list inline on any page.
Kabuki syndrome
Kabuki syndrome 1
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
diffuse large B-cell lymphoma
head and neck squamous cell carcinoma
prostate adenocarcinoma
squamous cell lung carcinoma
medulloblastoma
hereditary disease
urinary bladder cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Histone-lysine N-methyltransferase 2D
Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738). Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:17500065, PubMed:25561738). Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription (PubMed:16603732)
Curated MONDO disease pages that list KMT2D among their top associated genes.
KMT2D · O14686
Mean pLDDT
Not published
AlphaFold has not published a prediction for this sequence. This is common for very long proteins.
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
