| Type | Description |
|---|---|
| Definition | lysine methyltransferase 2B |
| Date | Results | Publications |
|---|---|---|
| 2021-03-06 13:28:00 | KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. | 33150406 |
| 2021-02-13 13:24:00 | Histone methyltransferase MLL4 controls myofiber identity and muscle performance through MEF2 interaction. | 32544095 |
| 2020-12-12 13:29:00 | Histone 3 lysine-27 demethylase KDM6A coordinates with KMT2B to play an oncogenic role in NSCLC by regulating H3K4me3. | 32879445 |
| 2020-06-13 12:23:00 | KMT2B mutations are frequent in childhood-onset dystonia and cause a complex neurodevelopmental syndrome | 31216378 |
| 2019-12-07 12:08:00 | Childhood-onset progressive dystonia with orofacial involvement is one of the main clinical manifestations of KMT2B mutations. In all, 26% (18/69) of the reported cases have T2 signal alterations of the globus pallidus internus, mostly at a younger age. Anticholinergic medication and GPi-DBS are promising treatment options and shall be considered early | 31165786 |
| Type | IDs |
|---|---|
| Synonymous | CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, TRX2, WBP-7, WBP7 |
| Gene |
UniProtKB-ID:
KMT2B_HUMAN
UniprotKB:
Q9UMN6
UniParc:
UPI000002B648,
UPI00001376B5
EMBL:
BC007353,
BC009337,
AF104918,
AB002302,
AF105279,
AD000671,
AF105280,
AJ007041,
AF186605
Ensembl:
ENSG00000272333
KO:
hsa:9757
|
| Nucleutide sequences |
EMBL-CDS:
CAB45385.1,
AAD17932.1,
BAA20763.3,
AAD56420.1,
AAD26112.1,
AAH07353.3,
AAD26113.1,
AAH09337.2
Ensembl_TRS:
ENST00000420124
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000398837
RefSeq:
XP_016883035.1,
NP_055542.1,
XP_011525864.1,
XP_011525863.2,
XP_016883034.1,
XP_016883033.1
|
| Others |
UniRef100:
UniRef100_Q9UMN6
UniRef90:
UniRef90_Q9UMN6
UniRef50:
UniRef50_Q9UMN6
UniGene:
Hs.92236,
Hs.676457
CCDS:
CCDS46055.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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