| Gene Symbol |
KMT2C
|
| Entrez Gene |
58508
|
| Alt Symbol |
HALR, MLL3
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
lysine (K)-specific methyltransferase 2C
|
| Other Description |
ALR-like protein|histone-lysine N-methyltransferase 2C|histone-lysine N-methyltransferase MLL3|histone-lysine N-methyltransferase, H3 lysine-4 specific|homologous to ALR protein|myeloid/lymphoid or mixed-lineage leukemia protein 3
|
| Swissprots |
Q9NR13 Q8NC02 Q8NEZ4 Q9H9P4 Q9UDR7 Q9P222 Q8NDF6
|
| Accessions |
AAD45822 AAS00364 Q8NEZ4 AB040939 BAA96030 AF264750 AAF74766 AK022687 AK025553 AK025911 AK075113 BAC11409 AK095628 AL832387 AL833924 CAD38780 AY024361 AAK00583 BC011921 BC151837 AAI51838 BP281562 BU623509 BU685177 BX640742 CAE45854 CD513584 DA266956 XM_005250025 XP_005250082 XM_005250026 XP_005250083 XM_005250027 XP_005250084 XM_005250028 XP_005250085 XM_005250031 XP_005250088 XM_006716077 XP_006716140 XM_006716078 XP_006716141 XM_006716079 XP_006716142 XM_011516450 XP_011514752 XM_011516451 XP_011514753 XM_011516452 XP_011514754 XM_011516453 XP_011514755 XM_011516454 XP_011514756 XM_011516455 XP_011514757 XM_011516456 XP_011514758 XR_428183 NM_170606 NP_733751 NM_021230
|
| Function |
Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear receptors, involved in transcriptional coactivation. KMT2C/MLL3 may be a catalytic subunit of this complex. May be involved in leukemogenesis and developmental disorder. {ECO:0000269|PubMed:17500065}.
|
| Subcellular Location |
Nucleus {ECO:0000305}.
|
| Tissue Specificity |
Highly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta, peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate nucleus, and substantia nigra. Not detected in skeletal muscle and fetal liver.
|
| Top Pathways |
Lysine degradation
|