KMT2A

GENE INFORMATION

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Gene name

KMT2A (HGNC Symbol)

Synonyms

ALL-1, CXXC7, HRX, HTRX1, MLL, MLL1A, TRX1

Description

Lysine (K)-specific methyltransferase 2A (HGNC Symbol)

Entrez gene summary

This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

Chromosome

11

Cytoband

q23.3

Chromosome location (bp)

118436490 - 118526832

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000118058 (version 78.38)

Entrez gene

4297

UniProt

Q03164 (UniProt - Evidence at protein level)

neXtProt

NX_Q03164

Antibodypedia

KMT2A antibodies
 

PROTEIN VIEW

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KMT2A-001
 
KMT2A-002
 
KMT2A-006
 
KMT2A-007
 
KMT2A-010
 
KMT2A-015
 
KMT2A-016
 
KMT2A-017
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

KMT2A-001 ENSP00000436786
ENST00000534358
Q03164
Show all »
Show » Show » 3972 432 No 0
KMT2A-002 ENSP00000432391
ENST00000531904
E9PR05
Show all »
Show » Show » 1439 155.5 No 0
KMT2A-006 ENSP00000436564
ENST00000529852
H0YEU4
Show all »
Show » 87 8.6 No 0
KMT2A-007 ENSP00000436700
ENST00000533790
H7C5W4
Show all »
Show » Show » 268 28.4 No 0
KMT2A-010 ENSP00000434618
ENST00000532204
H0YEU4
Show all »
Show » 87 8.6 No 0
KMT2A-015 ENSP00000374157
ENST00000389506
Q03164
Show all »
Show » Show » 3969 431.8 No 0
KMT2A-016 ENSP00000432652
ENST00000527869
H7C5V8
Show all »
Show » 160 16.9 No 0
KMT2A-017 ENSP00000376612
ENST00000392873
H7BYJ6
Show all »
Show » Show » 366 41.2 No 0