KMT2D

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.
Full Name
LYSINE METHYLTRANSFERASE 2D
Function
Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) (PubMed:25561738).
Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:17500065).
Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription (PubMed:16603732).
Cellular Location
Nucleus
Involvement in disease
Kabuki syndrome 1 (KABUK1):
A congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy.
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Anti-KMT2D antibodies

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Mouse Anti-KMT2D Recombinant Antibody (CBT2412) (V2LY-0625-LY1316)

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Target: KMT2D
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBT2412
Application*: F
Datasheet SDS

Mouse Anti-KMT2D Recombinant Antibody (CBT3062) (V2LY-0625-LY1315)

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Target: KMT2D
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBT3062
Application*: IH, F
Datasheet SDS

Mouse Anti-KMT2D Recombinant Antibody (2E1) (CBMAB-A5512-LY)

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Target: KMT2D
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 2E1
Application*: WB, E
Datasheet SDS

Mouse Anti-KMT2D (AA 813-905) Recombinant Antibody (CBFYM-1194) (CBMAB-M1351-FY)

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Target: KMT2D
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: CBFYM-1194
Application*: E, WB
Datasheet SDS

Rabbit Anti-KMT2D Recombinant Antibody (9H13L17) (CBMAB-K1433-LY)

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Target: KMT2D
Host: Rabbit
Antibody Isotype: IgG
Specificity: Human
Clone: 9H13L17
Application*: F, IC, IF
Datasheet SDS

Mouse Anti-KMT2D Recombinant Antibody (2E1) (CBMAB-K1432-LY)

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Target: KMT2D
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 2E1
Application*: E, P, WB
Datasheet SDS

Mouse Anti-KMT2D Recombinant Antibody (20) (CBMAB-K1431-LY)

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Target: KMT2D
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 20
Application*: E, WB, P
Datasheet SDS
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(P): Predicted
* Abbreviations
  • AActivation
  • AGAgonist
  • APApoptosis
  • BBlocking
  • BABioassay
  • BIBioimaging
  • CImmunohistochemistry-Frozen Sections
  • CIChromatin Immunoprecipitation
  • CTCytotoxicity
  • CSCostimulation
  • DDepletion
  • DBDot Blot
  • EELISA
  • ECELISA(Cap)
  • EDELISA(Det)
  • ESELISpot
  • EMElectron Microscopy
  • FFlow Cytometry
  • FNFunction Assay
  • GSGel Supershift
  • IInhibition
  • IAEnzyme Immunoassay
  • ICImmunocytochemistry
  • IDImmunodiffusion
  • IEImmunoelectrophoresis
  • IFImmunofluorescence
  • IHImmunohistochemistry
  • IMImmunomicroscopy
  • IOImmunoassay
  • IPImmunoprecipitation
  • ISIntracellular Staining for Flow Cytometry
  • LALuminex Assay
  • LFLateral Flow Immunoassay
  • MMicroarray
  • MCMass Cytometry/CyTOF
  • MDMeDIP
  • MSElectrophoretic Mobility Shift Assay
  • NNeutralization
  • PImmunohistologyp-Paraffin Sections
  • PAPeptide Array
  • PEPeptide ELISA
  • PLProximity Ligation Assay
  • RRadioimmunoassay
  • SStimulation
  • SESandwich ELISA
  • SHIn situ hybridization
  • TCTissue Culture
  • WBWestern Blot
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