KMT2D

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 VIEW

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KMT2D-001
 
KMT2D-002
 
KMT2D-007
 
 
 
 
 

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