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Gene: KMT2D (lysine methyltransferase 2D) Homo sapiens
Symbol: KMT2D
Name: lysine methyltransferase 2D
Description: Exhibits transcription regulatory region DNA binding activity. Involved in several processes, including histone H3-K4 methylation; positive regulation of intracellular estrogen receptor signaling pathway; and response to estrogen. Localizes to MLL3/4 complex. Implicated in Kabuki syndrome and esophagus squamous cell carcinoma. Biomarker of breast cancer and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AAD10; ALL1-related protein; ALR; CAGL114; histone-lysine N-methyltransferase 2D; histone-lysine N-methyltransferase MLL2; KABUK1; Kabuki make-up syndrome; Kabuki mental retardation syndrome; KMS; KMT2B; lysine (K)-specific methyltransferase 2D; lysine N-methyltransferase 2B; lysine N-methyltransferase 2D; MLL2; MLL4; myeloid/lymphoid or mixed-lineage leukemia 2; myeloid/lymphoid or mixed-lineage leukemia protein 2; TNRC21; trinucleotide repeat containing 21; truncated lysine methyltransferase 2D
Mus musculus (house mouse) : Kmt2d (lysine (K)-specific methyltransferase 2D)  MGI  Alliance
Rattus norvegicus (Norway rat) : Kmt2d (lysine methyltransferase 2D)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Kmt2d (lysine methyltransferase 2D)
Pan paniscus (bonobo/pygmy chimpanzee) : KMT2D (lysine methyltransferase 2D)
Canis lupus familiaris (dog) : KMT2D (lysine methyltransferase 2D)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Kmt2d (lysine methyltransferase 2D)
Sus scrofa (pig) : KMT2D (lysine methyltransferase 2D)
Chlorocebus sabaeus (African green monkey) : KMT2D (lysine methyltransferase 2D)
Heterocephalus glaber (naked mole-rat) : Kmt2d (lysine methyltransferase 2D)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38 Ensembl1249,018,975 - 49,059,774 (-)EnsemblGRCh38hg38GRCh38
GRCh381249,018,975 - 49,060,884 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371249,412,758 - 49,453,935 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,699,025 - 47,735,374 (-)NCBINCBI36hg18NCBI36
Build 341247,701,829 - 47,735,374NCBI
Celera1248,207,544 - 48,243,891 (-)NCBI
Cytogenetic Map12q13.12NCBI
HuRef1246,444,274 - 46,480,622 (-)NCBIHuRef
CHM1_11249,378,552 - 49,414,901 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants