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Protein-coding gene in humans
Histone-lysine N-methyltransferase 2D (KMT2D), also known as MLL4 and sometimes MLL2 in humans and Mll4 in mice, is a major mammalian histone H3 lysine
KMT2D
Congenital disorder of genetic origin
two types of Kabuki syndrome. Type 1 is caused by pathogenic variants in KMT2D and Type 2 is caused by pathogenic variants in KDM6A. Specific symptoms
Kabuki_syndrome
Birth defect of the eye
FRAS1 FREM1 FREM2 FZD5 GDF3 GDF6 GJA1 GRIP1 HCCS HMGB3 HMX1 IGBP1 KAT6B KMT2D LRP2 MAB21L2 MAF MFRP NAA10 NDUFB11 NHS OTX2 PAX2 PAX6 PDE6D PIGL POLR1C
Microphthalmia
Medical condition
KMT2A and KMT2D gene product proteins regulate gene transcription and may contribute to the development of various cancers (see KMT2A and KMT2D). And, the
Sclerosing epithelioid fibrosarcoma
Sclerosing_epithelioid_fibrosarcoma
Cancer originating in lymph nodes
as a co-stimulatory factor for the activation of lymphoid cells); and 4) KMT2D (encodes histone-lysine N-methyltransferase 2D, a histone methyltransferase
Follicular_lymphoma
Genetic disease resulting in abnormal formation or function of cilia
syndrome 147770 Juvenile myoclonic epilepsy 254770 Kabuki syndrome 147920 KMT2D, KDM6A Kallmann syndrome 308700 ANOS1 Lenz–Majewski hyperostotic dwarfism
Ciliopathy
Human protein and gene
be regulated by the KMT2D transcription factor, a histone methyltransferase, due to a decrease in C19Orf81 expression when KMT2D is down regulated. The
C19Orf81
Developmental disorder involving the eye
pigmenti PDE6D AR Joubert syndrome 22 unknown AR Kapur–Toriello syndrome KMT2D AD Kabuki syndrome KDM6A XLD GDF6 AD Klippel–Feil syndrome types 1, 3 GDF3
Syndromic_microphthalmia
Medical condition
as a co-stimulatory factor for the activation of lymphoid cells); and 4) KMT2D (encodes histone-lysine N-methyltransferase 2D, a histone methyltransferase
In_situ_lymphoid_neoplasia
Medical condition
"COMPASS Ascending: Emerging clues regarding the roles of MLL3/KMT2C and MLL2/KMT2D proteins in cancer". Cancer Letters. 458: 56–65. doi:10.1016/j.canlet.2019
Undifferentiated pleomorphic sarcoma
Undifferentiated_pleomorphic_sarcoma
Enzyme involved in glycolysis
"Enhancer Reprogramming Confers Dependence on Glycolysis and IGF Signaling in KMT2D Mutant Melanoma". Cell Reports. 33 (3) 108293. doi:10.1016/j.celrep.2020
Enolase
Q03164 8312 KMT2B HGNC:15840; Q9UMN6 8313 KMT2C HGNC:13726; Q8NEZ4 8314 KMT2D HGNC:7133; O14686 8315 KMT2E HGNC:18541; Q8IZD2 8316 KMT5A HGNC:29489; Q9NQR1
List of human protein-coding genes 4
List_of_human_protein-coding_genes_4
Histone methylation on tail of histone H3 associated with enhancers
function rather than controls. H3K4me1 is put down by KMT2C (MLL3) and KMT2D (MLL4) LSD1, and the related LSD2/KDM1B demethylate H3K4me1 and H3K4me2
H3K4me1
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KMT2D
KMT2D
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