KMT2D

GENERAL INFORMATION

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Gene name

KMT2D

Gene description

Lysine (K)-specific methyltransferase 2D

Protein class

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

Predicted localization

Intracellular

Number of transcripts

3
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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

Most of the normal cells showed weak to moderate nuclear or nuclear membranous positivity. Neuronal cells, epididymis and subsets of cells in seminiferus duct were strongly stained. Megakaryocytes showed distinct cytoplasmic immunoreactivity. The liver, breast and lymphoid tissues were negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA035977
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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

Bone marrow

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

KMT2D (HGNC Symbol)

Synonyms

ALR, CAGL114, MLL2, MLL4, TNRC21

Description

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

Entrez gene summary

The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]

Chromosome

12

Cytoband

q13.12

Chromosome location (bp)

49018975 - 49059774

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000167548 (version 78.38)

Entrez gene

8085

UniProt

O14686 (UniProt - Evidence at protein level)

neXtProt

NX_O14686

Antibodypedia

KMT2D antibodies


PROTEIN BROWSER

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ENST00000301067
 
ENST00000526209
 
ENST00000547610
 
 
 
 


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)

KMT2D-001 ENSP00000301067
ENST00000301067
O14686
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Show » Show » 5537 593.4 No 0
KMT2D-002 ENSP00000435714
ENST00000526209
H0YEF2
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Show » Show » 218 25.5 No 0
KMT2D-007 ENSP00000449455
ENST00000547610
F8VWW4
Show all »
Show » 146 15.3 No 0