KMT2C

Lysine N-methyltransferase 2C (KMT2C) also known as myeloid/lymphoid or mixed-lineage leukemia protein 3 (MLL3) is an enzyme that in humans is encoded by the KMT2C gene.^[4][5]

KMT2C
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2YSM, 2YUK, 3UVL, 4ERY, 5F59, 5F6K
Identifiers
Aliases	KMT2C, HALR, MLL3, lysine methyltransferase 2C, KLEFS2
External IDs	OMIM: 606833; MGI: 2444959; HomoloGene: 46480; GeneCards: KMT2C; OMA:KMT2C - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q36.1 Start 152,134,922 bp[1] End 152,436,644 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in oocyte caput epididymis skin of arm pancreatic epithelial cell corpus epididymis cardiac muscle tissue of right atrium Achilles tendon sural nerve bone marrow cells seminal vesicula n/a More reference expression data BioGPS n/a
Gene ontology Molecular function methyltransferase activity transferase activity DNA binding protein binding histone methyltransferase activity (H3-K4 specific) metal ion binding acyltransferase activity histone-lysine N-methyltransferase activity RNA binding transcription coactivator activity histone binding Cellular component MLL3/4 complex nucleus nucleoplasm histone methyltransferase complex Biological process histone lysine methylation methylation regulation of transcription, DNA-templated transcription, DNA-templated histone H3-K4 methylation regulation of megakaryocyte differentiation chromatin organization positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 58508 231051 Ensembl ENSG00000055609 n/a UniProt Q8NEZ4 Q8BRH4 RefSeq (mRNA) NM_021230 NM_170606 NM_001081383 NM_177283 RefSeq (protein) NP_733751 n/a Location (UCSC) Chr 7: 152.13 – 152.44 Mb n/a PubMed search [2] [3]
Wikidata
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Function

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT-hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.^[5]

Interactions

MLL3 has been shown to interact with NCOA6^[6] and RBBP5.^[6]

Clinical significance

Mutations of the KMT2C gene cause Kleefstra syndrome-2, a neurodevelopmental disorder first described in 2012.^[7]