Kmt2d Gene Summary [Mouse]
Enables DNA-binding transcription activator activity, RNA polymerase II-specific and histone H3K4 methyltransferase activity. Involved in heterochromatin formation and oocyte growth. Acts upstream of or within in utero embryonic development and regulation of gene expression. Predicted to be located in nucleoplasm. Predicted to be part of MLL3/4 complex. Is expressed in several structures, including central nervous system; cranium; heart; integumental system; and sensory organ. Used to study Kabuki syndrome. Human ortholog(s) of this gene implicated in Kabuki syndrome; carcinoma (multiple); and intracranial aneurysm. Orthologous to human KMT2D (lysine methyltransferase 2D). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Kmt2d |
| Official Name | lysine (K)-specific methyltransferase 2D [Source:MGI Symbol;Acc:MGI:2682319] |
| Ensembl ID | ENSMUSG00000048154 |
| Bio databases IDs | |
| Aliases | lysine (K)-specific methyltransferase 2D |
| Synonyms | AAD10, ALR, bapa, BC032281, BCAHH, C430014K11Rik, CAGL114, KABUK1, KMS, KMT2B, lysine (K)-specific methyltransferase 2D, lysine methyltransferase 2D, MLL2, MLL4, TNRC21 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Kmt2d often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- PHD zinc finger
- transcription regulator
- LXXLL motif
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain
- Cysteine-rich motif following a subset of SET domains
- F/Y rich C-terminus
- nucleic acid binding
- high mobility group (HMG)-box domain superfamily
- Ring finger domain
- protein binding
- sequence-specific DNA binding
- histone lysine N-methyltransferase activity (H3-K4 specific)
- PHD-like zinc-binding domain
- double-stranded DNA binding
- SET (Su(var)3-9, Enhancer-of-zeste, Trithorax) domain superfamily
- Ring finger
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- HMG (high mobility group) box
- SET domain
- high mobility group
- PHD finger superfamily
- F/Y-rich N-terminus
- PHD-zinc-finger like domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- schizophrenia
- cancer
- bipolar disorder
- prostate cancer
- benign neoplasia
- metastasis
- Kabuki syndrome type 1
- Kabuki syndrome
- precursor B-cell acute lymphoblastic leukemia
role in cell
- expression in
- number
- phosphorylation in
- migration
- cellular infiltration by
- binding in
- trimethylation in
- activation in
- proliferation
- activation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- nucleoplasm
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Kmt2d gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oocyte growth
- response to estrogen stimulus
- oogenesis
- heterochromatin assembly
- positive regulation of cell proliferation
- positive regulation of intracellular estrogen receptor signaling pathway
- regulation of transcription, DNA-dependent
- positive regulation of transcription from RNA polymerase II promoter
- methylation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- histone methyltransferase activity (H3-K4 specific)
- DNA binding
- protein binding
- transcription coactivator activity
- metal ion binding
- transcription regulatory region sequence-specific DNA binding