KMT2A

GENERAL INFORMATION

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Gene name

KMT2A

Gene description

Lysine (K)-specific methyltransferase 2A

Protein class

Cancer-related genes
Disease related genes
Enzymes
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Transcription factors

Predicted localization

Intracellular

Number of transcripts

8
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous nuclear expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
CAB017794 , CAB024270
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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 BROWSER

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ENST00000389506
 
ENST00000392873
 
ENST00000527869
 
ENST00000529852
 
ENST00000531904
 
ENST00000532204
 
ENST00000533790
 
ENST00000534358
 
 
 
 


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