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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 Lysine degradation 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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
2 | Chromatin organization | ||
3 | PKMTs methylate histone lysines | ||
4 | Lysine degradation | ||
5 | Metabolism |
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:0045652 | regulation of megakaryocyte differentiation | TAS | -- |
GO:0045944 | positive regulation of transcription by RNA polymerase II | IBA | 21873635 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Entacapone | Approved, Investigational | Pharma | COMT inhibitor, Potent COMT inhibitor; blocks alpha-synuclein aggregation | 56 | ||
D-Lysine | Approved, Experimental | Nutra | Agonist, Full 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 30 |
|
||
KMT2C 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | KMT2C 31 |
|
OneToOne | |
MLL3 30 |
|
||||
Mouse (Mus musculus) |
Mammalia | Kmt2c 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kmt2c 30 |
|
||
Cow (Bos Taurus) |
Mammalia | KMT2C 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KMT2C 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | MLL3 30 |
|
||
KMT2C 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | KMT2C 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kmt2c 30 |
|
||
Str.11992 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | kmt2ca 30 31 |
|
OneToMany | |
kmt2cb 31 |
|
OneToMany | |||
Dr.18611 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Lpt 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635469 | Likely Pathogenic: Kleefstra syndrome 2 | 152,195,977(-) | TTCAGAAATA/T | INFRAME_DELETION | |
667417 | Pathogenic: Kleefstra syndrome due to a point mutation | 152,222,037(-) | GT/G | FRAMESHIFT_VARIANT | |
694634 | Uncertain Significance: Global developmental delay; Cerebellar atrophy; Kleefstra syndrome 2 | 152,229,938(-) | G/C | NONSENSE | |
709433 | Benign: not provided | 152,152,730(-) | A/G | SYNONYMOUS_VARIANT | |
715879 | Benign: not provided | 152,238,822(-) | G/A | MISSENSE_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 |
|
|