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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. [provided by RefSeq, Jul 2008]
KMT2C (Lysine Methyltransferase 2C) is a Protein Coding gene. Diseases associated with KMT2C include Kleefstra Syndrome 2 and Kleefstra Syndrome Due To A Point Mutation. Among its related pathways are Developmental Biology and PKMTs methylate histone lysines. Gene Ontology (GO) annotations related to this gene include histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is KMT2D.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0003713 | transcription coactivator activity | IBA | 21873635 |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IPI | 12482968 |
GO:0008168 | methyltransferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 17500065 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0035097 | histone methyltransferase complex | IDA | 17500065 |
GO:0044666 | MLL3/4 complex | IDA | 17500065 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006325 | chromatin organization | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0032259 | methylation | IEA | -- |
GO:0034968 | histone lysine methylation | IEA | -- |
GO:0045652 | regulation of megakaryocyte differentiation | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Entacapone | Approved, Investigational | Pharma | COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation | 55 | ||
D-Lysine | Approved, Experimental | Nutra | Full agonist, Agonist | 0 | ||
s-adenosylhomocysteine | Experimental | Pharma | 0 | |||
EPZ004777 | Pharma | DOT1L inhibitor | 0 | |||
PFI-2 | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
|
485-80-3 |
|
Compound | Action | Cas Number |
---|---|---|
Entacapone | COMT inhibitor | 130929-57-6 |
EPZ004777 | DOT1L inhibitor | 1338466-77-5 |
PFI-2 | 1627676-59-8 | |
SGI-1027 | DNMT inhibitor | 1020149-73-8 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | MLL3 32 |
|
||
KMT2C 33 |
|
OneToOne | |||
dog (Canis familiaris) |
Mammalia | KMT2C 33 |
|
OneToOne | |
MLL3 32 |
|
||||
mouse (Mus musculus) |
Mammalia | Kmt2c 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Kmt2c 32 |
|
||
cow (Bos Taurus) |
Mammalia | KMT2C 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | KMT2C 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
-- 33 |
|
OneToMany | |||
chicken (Gallus gallus) |
Aves | MLL3 32 |
|
||
KMT2C 33 |
|
OneToOne | |||
lizard (Anolis carolinensis) |
Reptilia | KMT2C 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | kmt2c 32 |
|
||
Str.11992 32 |
|
||||
zebrafish (Danio rerio) |
Actinopterygii | kmt2ca 33 32 |
|
OneToMany | |
kmt2cb 33 |
|
OneToMany | |||
Dr.18611 32 |
|
||||
fruit fly (Drosophila melanogaster) |
Insecta | Lpt 33 |
|
ManyToMany |
SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1249758583 | uncertain-significance, Intellectual disability | 152,205,150(-) | T/A/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs13231116 | not-provided, not specified, - | 152,180,042(-) | G/A/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs138845109 | not-provided, uncertain-significance, not specified, atypical cerebral palsy | 152,176,951(-) | T/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs1554477105 | pathogenic, KLEEFSTRA SYNDROME 2 | 152,162,762(-) | TTTCTTT/TTT | coding_sequence_variant, frameshift, non_coding_transcript_variant | |
rs1554496813 | likely-pathogenic, KLEEFSTRA SYNDROME 2 | 152,177,840(-) | GG/GGG | coding_sequence_variant, frameshift, non_coding_transcript_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
kleefstra syndrome 2 |
|
|
kleefstra syndrome due to a point mutation |
|
|
alacrima, achalasia, and mental retardation syndrome |
|
|
kleefstra syndrome |
|
|
nut midline carcinoma |
|
|