KMT2D
Domain
LXXLL motifs 5 and 6 are essential for the association with ESR1 nuclear receptor.
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) (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).
Involvement in disease
Kabuki syndrome 1
KABUK1
An autosomal dominant, congenital syndrome characterized by intellectual disability and additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome
BCAHH
An autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, delayed or absent pubertal development, and thyroid abnormalities. Additional features may include developmental delay, growth failure and short stature.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily.
Tissue Specificity
Expressed in most adult tissues, including a variety of hematoipoietic cells, with the exception of the liver.
Cellular localization
- Nucleus
Alternative names
ALR, MLL2, MLL4, KMT2D, Histone-lysine N-methyltransferase 2D, Lysine N-methyltransferase 2D, ALL1-related protein, Myeloid/lymphoid or mixed-lineage leukemia protein 2