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This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene, however, the full length nature of the shorter transcript is not known. [provided by RefSeq, Jul 2008]
KMT2B (Lysine Methyltransferase 2B) is a Protein Coding gene. Diseases associated with KMT2B include Dystonia 28, Childhood-Onset and Myoclonus. Among its related pathways are Lysine degradation and PKMTs methylate histone lysines. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and histone methyltransferase activity (H3-K4 specific). An important paralog of this gene is KMT2A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | NAS | 10409430 |
GO:0005515 | protein binding | IPI | 17021013 |
GO:0008168 | methyltransferase activity | IEA | -- |
GO:0008270 | zinc ion binding | IDA | 29276034 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0035097 | histone methyltransferase complex | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Chromatin organization | ||
2 | PKMTs methylate histone lysines | ||
3 | Chromatin Regulation / Acetylation | ||
4 | Lysine degradation | ||
5 | Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001541 | ovarian follicle development | IEA | -- |
GO:0006325 | chromatin organization | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007613 | memory | IEA | -- |
GO:0009994 | oocyte differentiation | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
|
485-80-3 |
|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | -- 31 |
|
OneToOne | |
LOC455959 30 |
|
||||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToOne | |
MLL4 30 |
|
||||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToOne | |
KMT2B 30 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | LOC102550344 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Kmt2b 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.7192 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | kmt2ba 31 |
|
OneToMany | |
kmt2bb 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | trx 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SET1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
666270 | Uncertain Significance: TAFRO syndrome | 35,720,453(+) | AAG/A | FRAMESHIFT_VARIANT | |
673318 | Benign: not provided | 35,733,260(+) | C/A | SYNONYMOUS_VARIANT | |
691443 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 35,727,486(+) | C/T | MISSENSE_VARIANT | |
692033 | Likely Pathogenic: Dystonia 28, childhood-onset | 35,730,009(+) | T/C | MISSENSE_VARIANT | |
707830 | Benign: not provided | 35,723,107(+) | G/C | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
dystonia 28, childhood-onset |
|
|
myoclonus |
|
|
specific learning disability |
|
|
dystonia 12 |
|
|
dystonia |
|
|