KMT2B

KMT2B
Identifiers
AliasesKMT2B, HRX2, MLL1B, MLL2, MLL4, TRX2, WBP-7, WBP7, CXXC10, lysine methyltransferase 2B, DYT28
External IDsOMIM: 606834; MGI: 109565; GeneCards: KMT2B
Available structures
PDBOrtholog search: PDBe RCSB
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
2.1.1.364
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_014727

NM_001290573
NM_029274

RefSeq (protein)

NP_055542

NP_001277502
NP_083550

Location (UCSC)Chr 19: 35.72 – 35.74 MbChr 7: 30.27 – 30.29 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Histone-lysine N-methyltransferase 2B is a protein that in humans is encoded by the KMT2B gene.[5]

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.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000272333Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000006307Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: MLL4 myeloid/lymphoid or mixed-lineage leukemia 4".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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