KMT5C (Lysine Methyltransferase 5C)
A histone methyltransferase involved in transcriptional regulation and chromatin organization.
Gene Information Card
| Symbol | KMT5C |
|---|---|
| Full Name | Lysine Methyltransferase 5C |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 79084 ncbi.nlm.nih.gov/gene/79084 |
| Ensembl ID | ENSG00000105647 |
| UniProt ID | Q9H9B1 |
| OMIM ID | 617210 |
| HGNC ID | 26021 |
| Aliases | SUV420H2, MESK2, dJ726C3.1 |
Description
KMT5C encodes a histone methyltransferase that specifically methylates histone H4 at lysine 20 (H4K20). This modification is involved in chromatin compaction, DNA repair, and transcriptional regulation. KMT5C is essential for proper cell cycle progression and genomic stability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered H4K20 methylation may disrupt chromatin structure and gene expression, promoting tumorigenesis. | ClinVar, COSMIC |
| Neurodevelopmental disorders | Mutations in KMT5C have been associated with intellectual disability and developmental delay. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| K562 | 5.4 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Trp) | Missense | <0.01% | Likely loss of function; associated with neurodevelopmental disorder |
| c.457G>A (p.Glu153Lys) | Missense | <0.01% | Unknown functional effect; reported in cancer |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the catalytic domain may reduce or abolish methyltransferase activity, leading to altered H4K20 methylation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Histone H4-K20 methyltransferase activity | • Chromatin binding |
| • Nucleus | • Regulation of transcription |
| • DNA-templated | • Cell cycle |
Pathways
• Chromatin modifying enzymes
• H4K20 methylation
Protein Summary
KMT5C is a 462-amino acid protein containing a SET domain responsible for its methyltransferase activity. It localizes to the nucleus and modifies histone H4 at lysine 20, a mark associated with heterochromatin formation and DNA damage response.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KMT5C Knockout HEK293 Cell Line | EDJ-KQ10201 | Human | 84787 | Details Get a Quote |
| KMT5C Knockout A-549 Cell Line | EDJ-KQ37344 | Human | 84787 | Details Get a Quote |
| KMT5C Knockout HCT 116 Cell Line | EDJ-KQ37345 | Human | 84787 | Details Get a Quote |
| KMT5C Knockout HeLa Cell Line | EDJ-KQ37346 | Human | 84787 | Details Get a Quote |
