Basic Information
Symbol
KMT2D
RNA Class
mRNA
Alias
lysine methyltransferase 2D
ALR
MLL4
CAGL114
histone-lysine N-methyltransferase 2D
ALL1-related
trinucleotide repeat containing 21
myeloid/lymphoid or mixed-lineage leukemia 2
lysine (K)-specific methyltransferase 2D
AAD10
BCAHH
KABUK1
KMS
MLL2
TNRC21
ALL1-related protein
Kabuki make-up syndrome
histone-lysine N-methyltransferase MLL2
lysine N-methyltransferase 2D
Histone-lysine N-methyltransferase 2D
Lysine N-methyltransferase 2D
Myeloid/lymphoid or mixed-lineage leukemia protein 2
EC 2.1.1.364
Location (GRCh38)
12:49018975-49060794
UCSC Genome Browser
Transcripts
Secondary Structure
MANE Select
NM_003482.4
Sequence length
20635 nt
GC Content
0.5978
Transcripts
| ID | Sequence | Length | GC Content |
|---|---|---|---|
| NM_003482.4 | GCCGCUCCGCUCCAACACAAAAUAGGGCCGCCUCUUCUCCUUUCUCCCC… | 20635 nt | 0.5978 |
Summary
The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded 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. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]
Forensic Context
No forensic context available.
Genomic Tracks
