KMT2B gene

lysine methyltransferase 2B

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Histone methyltransferase that methylates 'Lys-4' of histone H3 (PubMed:17707229). H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation (PubMed:17707229). Plays a central role in beta-globin locus transcription regulation by being recruited by NFE2 (PubMed:17707229). Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation development (By similarity). Required during the transcriptionally active period of oocyte growth for the establishment and/or maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of meiosis, oocyte survival and normal zygotic genome activation (By similarity).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Dystonia 28, childhood-onset

From UniProt:

Dystonia 28, childhood-onset (DYT28): A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT28 is an autosomal dominant, progressive form characterized by onset in the first decade of life and variable severity. Dystonia begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. [MIM:617284]

Cytogenetic Location: 19q13.12, which is the long (q) arm of chromosome 19 at position 13.12

Molecular Location: base pairs 35,717,818 to 35,738,878 on chromosome 19 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 19q13.12, which is the long (q) arm of chromosome 19 at position 13.12
  • CXXC10
  • DYT28
  • HRX2
  • MLL1B
  • MLL2
  • MLL4
  • TRX2
  • WBP-7
  • WBP7