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Tbio
KMT2D
Histone-lysine N-methyltransferase 2D

Protein Summary
Description
Histone methyltransferase. Methylates 'Lys-4' of histone H3 (H3K4me). H3K4me represents a specific tag for epigenetic transcriptional activation. Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000301067
  • ENSP00000301067
  • ENSG00000167548

Symbol
  • ALR
  • MLL2
  • MLL4
  • ALR
  • KMS
  • MLL2
  • MLL4
  • AAD10
  • KABUK1
  • TNRC21
  • CAGL114
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
protein domain
1
ligand (protein) perturbation
0.99
biological process
0.92
molecular function
0.88
interacting protein
0.79


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 280.61   (req: < 5)
Gene RIFs: 89   (req: <= 3)
Antibodies: 142   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 280.61   (req: >= 5)
Gene RIFs: 89   (req: > 3)
Antibodies: 142   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 19
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (4)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
intelligence
3
2
1
6.7
93.9
cognitive function measurement
1
1
1
87.5
heel bone mineral density
1
1
1
25.3
reaction time measurement
1
1
1
3.9
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
intelligence
1
6.7
93.9
cognitive function measurement
1
87.5
heel bone mineral density
1
25.3
reaction time measurement
1
3.9
Orthologs (9)
1 – 5 of 9
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
lysine methyltransferase 2D
VGNC:8437
100610362
Macaque
lysine methyltransferase 2D
710795
Mouse
MGI:2682319
381022
Dog
lysine methyltransferase 2D
VGNC:42491
486558
Cow
lysine methyltransferase 2D
VGNC:30693
506805
Species
Name
OMA
EggNOG
Inparanoid
Chimp
lysine methyltransferase 2D
Macaque
lysine methyltransferase 2D
Mouse
Dog
lysine methyltransferase 2D
Cow
lysine methyltransferase 2D
Protein Structure (3 Structures, 22 AlphaFold Models)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 3 of 3
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (19)
Activation of HOX genes during differentiation (R-HSA-5619507)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 16
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Activation of HOX genes during differentiation
Reactome
Activation of anterior HOX genes in hindbrain development during early embryogenesis
Reactome
Chromatin modifying enzymes
Reactome
Chromatin organization
Reactome
Deactivation of the beta-catenin transactivating complex
Name
Explore in Pharos
Explore in Source
Activation of HOX genes during differentiation
Activation of anterior HOX genes in hindbrain development during early embryogenesis
Chromatin modifying enzymes
Chromatin organization
Deactivation of the beta-catenin transactivating complex
Gene Ontology Terms (23)
Items per page:
10
1 – 8 of 8
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Sequence Model (ISM)
NTNU_SB
Traceable Author Statement (TAS)
Reactome
Non-traceable Author Statement (NAS)
UniProtKB
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (269)
1 – 10 of 269
WDR5
Tchem
Novelty: 0.0059945
p_int: 1
Score: 0.995
Data Source: BioPlex,STRINGDB
KDM6A
Tchem
Family: Epigenetic
Novelty: 0.00267001
Score: 0.996
Data Source: STRINGDB
EP300
Tchem
Family: Epigenetic
Novelty: 0.00055009
Score: 0.994
Data Source: STRINGDB
ASH2L
Tbio
Family: Enzyme
Novelty: 0.01586766
Score: 0.993
Data Source: STRINGDB
PAXIP1
Tbio
Novelty: 0.01728724
Score: 0.993
Data Source: STRINGDB
RBBP5
Tbio
Novelty: 0.02221059
Score: 0.993
Data Source: STRINGDB
KMT2C
Tbio
Family: Epigenetic
Novelty: 0.00689437
Score: 0.988
Data Source: STRINGDB
NCOA6
Tbio
Novelty: 0.00750424
Score: 0.981
Data Source: STRINGDB
NCOR1
Tchem
Family: TF
Novelty: 0.0021926
Score: 0.981
Data Source: STRINGDB
SETD1B
Tbio
Family: Epigenetic
Novelty: 0.03331663
Score: 0.981
Data Source: STRINGDB
Publication Statistics
PubMed Score  280.61

PubMed score by year
PubTator Score  144.56

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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