KMT2D
Gene Information
- Official Symbol: KMT2D
- Official Name: lysine methyltransferase 2D
- Aliases and Previous Symbols: N/A
- Entrez ID: 8085
- UniProt: O14686
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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].
- UniProt Summary: Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. {ECO:0000269|PubMed:16603732, ECO:0000269|PubMed:17500065, ECO:0000269|PubMed:17851529}.
Pfam Domains GO Terms
Pfam Domains
| FYRN |
| FYRC |
| PHD |
| SET |
GO Terms
| oocyte growth |
| positive regulation of intracellular estrogen receptor signaling pathway |
| MLL3/4 complex |
| positive regulation of intracellular steroid hormone receptor signaling pathway |
| histone methyltransferase activity (H3-K4 specific) |
| beta-catenin-TCF complex assembly |
| histone H3-K4 methylation |
| oocyte development |
| regulation of intracellular estrogen receptor signaling pathway |
| histone methyltransferase complex |
| oocyte differentiation |
| regulation of megakaryocyte differentiation |
| chromatin organization involved in negative regulation of transcription |
| chromatin silencing |
| chromatin organization involved in regulation of transcription |
| histone lysine methylation |
| response to estrogen |
| regulation of intracellular steroid hormone receptor signaling pathway |
| oogenesis |
| negative regulation of gene expression, epigenetic |
| developmental cell growth |
| peptidyl-lysine methylation |
| cell growth |
| histone methylation |
| female gamete generation |
| histone binding |
| protein alkylation |
| protein methylation |
| gene silencing |
| transcription regulatory region DNA binding |
| regulation of myeloid cell differentiation |
| regulation of gene expression, epigenetic |
| macromolecule methylation |
| germ cell development |
| transcription coactivator activity |
| methylation |
| peptidyl-lysine modification |
| cellular process involved in reproduction in multicellular organism |
| histone modification |
| covalent chromatin modification |
| developmental growth |
| growth |
| regulation of hemopoiesis |
| developmental process involved in reproduction |
| gamete generation |
| chromatin organization |
| multicellular organismal reproductive process |
| sexual reproduction |
| multicellular organism reproduction |
| peptidyl-amino acid modification |
| positive regulation of cell population proliferation |
| multi-organism reproductive process |
| chromosome organization |
| negative regulation of transcription, DNA-templated |
| positive regulation of transcription by RNA polymerase II |
| negative regulation of nucleic acid-templated transcription |
| negative regulation of RNA biosynthetic process |
| negative regulation of RNA metabolic process |
| negative regulation of cellular macromolecule biosynthetic process |
| reproductive process |
| reproduction |
| negative regulation of nucleobase-containing compound metabolic process |
| DNA binding |
| negative regulation of macromolecule biosynthetic process |
| negative regulation of cellular biosynthetic process |
| positive regulation of transcription, DNA-templated |
| negative regulation of biosynthetic process |
| protein-containing complex assembly |
| DNA-binding transcription factor activity, RNA polymerase II-specific |
| regulation of cell population proliferation |
| positive regulation of nucleic acid-templated transcription |
| positive regulation of RNA biosynthetic process |
| cell development |
| positive regulation of signal transduction |
| regulation of immune system process |
| negative regulation of gene expression |
| positive regulation of RNA metabolic process |
| regulation of cell differentiation |
| positive regulation of cell communication |
| positive regulation of signaling |
| protein-containing complex subunit organization |
| positive regulation of nucleobase-containing compound metabolic process |
| positive regulation of macromolecule biosynthetic process |
| positive regulation of cellular biosynthetic process |
| positive regulation of gene expression |
| positive regulation of biosynthetic process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 39/726
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 1/28 |
| blood | 6/28 |
| bone | 0/25 |
| breast | 5/33 |
| central nervous system | 2/56 |
| cervix | 0/4 |
| colorectal | 2/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 2/15 |
| kidney | 2/21 |
| liver | 3/20 |
| lung | 2/75 |
| lymphocyte | 0/14 |
| ovary | 1/26 |
| pancreas | 2/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 1/1 |
| skin | 0/24 |
| soft tissue | 0/7 |
| thyroid | 0/2 |
| upper aerodigestive | 1/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 3328
- Expression level (log2 read counts): 8.4
Expression Distribution
KMT2D Expression in NALM6 Cells: 8.4
