lysine methyltransferase 2D

Summary
Gene Symbol
  • KMT2D
Organism
Homo sapiens (human)
NCBI Gene
8085
PubChem
8085
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Chromatin regulator
  • Coiled coil
  • Congenital hypothyroidism
  • Deafness
  • Disease variant
  • Intellectual disability
  • Isopeptide bond
  • Methylation
  • Methyltransferase
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Repeat
  • S-adenosyl-L-methionine
  • Transcription regulation
  • Transferase
  • Ubl conjugation
  • Zinc-finger
Proteins
Displaying all 3 entries
UniProt Protein Name
O14686
  • ALL1-related protein
  • Myeloid/lymphoid or mixed-lineage leukemia protein 2
Q6PIA1
Q59FG6
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Histone-lysine n-methyltransferase
Functional Category
  • C: Energy production and conversion
  • J: Translation, ribosomal structure and biogenesis
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
methylation
transferase activity
Displaying all 3 entries
InterPro
Post-SET domain
SET domain superfamily
SET domain
Disease
Disease Ontology
Displaying all 8 entries
DO ID Disease Name Source
DOID:0060473 Kabuki syndrome
DOID:10941 intracranial aneurysm
DOID:3717 gastric adenocarcinoma
DOID:3748 esophagus squamous cell carcinoma
DOID:3907 lung squamous cell carcinoma
DOID:3908 lung non-small cell carcinoma
DOID:3969 papillary thyroid carcinoma
DOID:5409 lung small cell carcinoma

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025