KMT2C (Lysine Methyltransferase 2C)
A histone methyltransferase gene frequently mutated in cancer and developmental disorders
Gene Information Card
| Symbol | KMT2C |
|---|---|
| Full Name | Lysine Methyltransferase 2C |
| Gene Type | Protein coding |
| Chromosomal Location | 7q36.1 |
| NCBI Gene ID | 58508 ncbi.nlm.nih.gov/gene/58508 |
| Ensembl ID | ENSG00000055609 |
| UniProt ID | Q8NEZ4 |
| OMIM ID | 606833 |
| HGNC ID | 13726 |
| Aliases | MLL3, HALR, PPP1R168 |
Description
KMT2C (lysine methyltransferase 2C) encodes a histone methyltransferase that specifically methylates histone H3 at lysine 4 (H3K4). It is a component of the MLL3/COMPASS-like complex and acts as a coactivator for various transcription factors. KMT2C is frequently mutated in multiple cancer types and is associated with Kabuki syndrome when mutated in the germline.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Kabuki syndrome | Loss-of-function mutations in KMT2C disrupt H3K4 methylation, leading to altered gene expression during development | ClinVar, OMIM |
| Acute myeloid leukemia | Somatic mutations (often truncating) impair H3K4 methylation, contributing to leukemogenesis | COSMIC, NCBI |
| Breast cancer | Recurrent inactivating mutations reduce H3K4me1 at enhancers, promoting tumor progression | COSMIC, PubMed |
| Bladder cancer | Frameshift and nonsense mutations lead to loss of function and genomic instability | COSMIC, NCBI |
| Colorectal cancer | Truncating mutations in KMT2C are associated with microsatellite instability | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney |
| K562 | 7.5 | Leukemia |
| MCF7 | 6.8 | Breast cancer |
| HepG2 | 5.1 | Liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.955C>T (p.Arg319*) | Nonsense | <1% | Loss of function |
| c.1234delG (p.Glu412fs) | Frameshift | <1% | Loss of function |
| c.4567A>G (p.Thr1523Ala) | Missense | <0.5% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Most KMT2C mutations in cancer are truncating (nonsense, frameshift) leading to loss of methyltransferase activity and reduced H3K4me1 at enhancers.
Gain of Function (GOF)
Not reported for KMT2C.
Dominant Negative (DN)
Not established; haploinsufficiency is the predominant mechanism in Kabuki syndrome.
View complete mutation data：
Gene Ontology (GO)
| • Histone H3-K4 methyltransferase activity | • Chromatin binding |
| • Transcription coactivator activity | • Regulation of transcription by RNA polymerase II |
| • Chromatin organization |
Pathways
• Chromatin modifying enzymes
• Transcriptional regulation by MLL/COMPASS complex
• Notch signaling (via coactivation)
Protein Summary
KMT2C is a large protein (5262 amino acids) containing multiple domains including a SET domain responsible for H3K4 methyltransferase activity, PHD fingers, and a HMG box. It functions as a key epigenetic regulator, particularly at enhancer regions, and is essential for normal development and differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KMT2C Knockout HEK293 Cell Line | EDJ-KQ3105 | Human | 58508 | Details Get a Quote |
| KMT2C Knockout A-549 Cell Line | EDJ-KQ25803 | Human | 58508 | Details Get a Quote |
| KMT2C Knockout HCT 116 Cell Line | EDJ-KQ25805 | Human | 58508 | Details Get a Quote |
| KMT2C Knockout HeLa Cell Line | EDJ-KQ25806 | Human | 58508 | Details Get a Quote |
| Kmt2c Knockout 4T1 Cell Line | EDJ-KZ313 | Mouse | 231051 | Details Get a Quote |
| Kmt2c Knockout ID8 Cell Line | EDJ-KZ314 | Mouse | 231051 | Details Get a Quote |
| Kmt2c Knockout MC-38 Cell Line | EDJ-KZ315 | Mouse | 58508 | Details Get a Quote |
| KMT2C Knockout HAP1 Cell Line | EDC08307 | Human | 58508 | Details Get a Quote |
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