KMT2A report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0071560Biological processcellular response to transforming growth factor beta stimulus
GO_0035640Biological processexploration behavior
GO_0051899Biological processmembrane depolarization
GO_0035864Biological processresponse to potassium ion
GO_0009791Biological processpost-embryonic development
GO_0032259Biological processmethylation
GO_0048147Biological processnegative regulation of fibroblast proliferation
GO_0032922Biological processcircadian regulation of gene expression
GO_0008542Biological processvisual learning
GO_0048873Biological processhomeostasis of number of cells within a tissue
GO_0065003Biological processprotein-containing complex assembly
GO_0045064Biological processT-helper 2 cell differentiation
GO_0048536Biological processspleen development
GO_0060216Biological processdefinitive hemopoiesis
GO_0045893Biological processpositive regulation of DNA-templated transcription
GO_0036211Biological processprotein modification process
GO_0048144Biological processfibroblast proliferation
GO_0090310Biological processnegative regulation of DNA methylation-dependent heterochromatin formation
GO_0009952Biological processanterior/posterior pattern specification
GO_0006915Biological processapoptotic process
GO_0035162Biological processembryonic hemopoiesis
GO_0048172Biological processregulation of short-term neuronal synaptic plasticity
GO_0045815Biological processtranscription initiation-coupled chromatin remodeling
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0035097Cellular componenthistone methyltransferase complex
GO_0071339Cellular componentMLL1 complex
GO_0005654Cellular componentnucleoplasm
GO_0005829Cellular componentcytosol
GO_0005634Cellular componentnucleus
GO_0042803Molecular functionprotein homodimerization activity
GO_0042800Molecular functionhistone H3K4 methyltransferase activity
GO_0003682Molecular functionchromatin binding
GO_0070577Molecular functionlysine-acetylated histone binding
GO_0042802Molecular functionidentical protein binding
GO_0106363Molecular functionprotein-cysteine methyltransferase activity
GO_0003680Molecular functionminor groove of adenine-thymine-rich DNA binding
GO_0008270Molecular functionzinc ion binding
GO_0140999Molecular functionhistone H3K4 trimethyltransferase activity
GO_0140945Molecular functionhistone H3K4 monomethyltransferase activity
GO_0045322Molecular functionunmethylated CpG binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameKMT2A
Protein nameHistone-lysine N-methyltransferase 2A (Lysine N-methyltransferase 2A) (EC 2.1.1.364) (ALL-1) (CXXC-type zinc finger protein 7) (Cysteine methyltransferase KMT2A) (EC 2.1.1.-) (Myeloid/lymphoid or mixed-lineage leukemia) (Myeloid/lymphoid or mixed-lineage leukemia protein 1) (Trithorax-like protein) (Zinc finger protein HRX) [Cleaved into: MLL cleavage product N320 (N-terminal cleavage product of 320 kDa) (p320); MLL cleavage product C180 (C-terminal cleavage product of 180 kDa) (p180)]
KMT2A
KMT2A/MAML2 fusion protein
KMT2A-MLLT6 fusion protein
Lysine methyltransferase 2A (Myeloid/lymphoid or mixed-lineage leukemia (Trithorax homolog, Drosophila), isoform CRA_b)
Histone-lysine N-methyltransferase (EC 2.1.1.364)
NUTM2A-KMT2A fusion protein
Lysine methyltransferase 2A
SynonymsMLL1
hCG_39304
EPS15
MAML2
HTRX
CXXC7
TRX1
MLLT6
fusion
HRX
ALL1
MLL
DescriptionFUNCTION: Histone methyltransferase that plays an essential role in early development and hematopoiesis . Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac) . Catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place . Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity . Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9' . Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state . Required for transcriptional activation of HOXA9 . Promotes PPP1R15A-induced apoptosis . Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-BMAL1 heterodimer (By similarity). Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-BMAL1 to chromatin (By similarity). Also has auto-methylation activity on Cys-3882 in absence of histone H3 substrate . .

AccessionsA0A3B3ITT7
ENST00000686588.1
H0YEU4
A0A8I5KVV7
ENST00000527869.7
ENST00000649699.1 [Q03164-2]
ENST00000531904.7
A0A4D6WLI1
ENST00000649878.2
A0A8I5KQ03
A0A8I5QJJ1
ENST00000649690.2
A0A3B3ISN4
A0A8I5KXR3
ENST00000691002.1
H7C5W4
ENST00000649666.2
ENST00000689424.1
ENST00000533790.3
ENST00000529852.3
ENST00000420751.4
ENST00000389506.10 [Q03164-1]
ENST00000685719.1
A0A8I5KTQ4
ENST00000686370.1
ENST00000691053.1
E9PR05
A0A3B3ITT0
A0A8I5KVD4
A0AA34QVI8
ENST00000685397.1
A0A8I5KY70
H7C5V8
A0A4D6WIU0
A0A8I5KRW5
ENST00000532204.6
ENST00000534358.8 [Q03164-3]
A0A7G9ZE50
ENST00000688355.1
Q03164
A0A8F7GQG2
A0A8I5KRT6
A0A4D6WQ80
ENST00000693536.1
ENST00000685498.1
A0A8I5KQV5
A0A8I5KW84
ENST00000710560.1
A0A3S6YZ73