EEF2KMT (eukaryotic elongation factor 2 lysine methyltransferase)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 196483
Gene name Eukaryotic elongation factor 2 lysine methyltransferase
Gene symbol EEF2KMT
Synonyms (NCBI Gene)
EFM3FAM86ASB153eEF2-KMT
Chromosome 16
Chromosome location 16p13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 23349634, 25231979, 25416956, 31515488, 32296183
GO:0005737 Component Cytoplasm IDA 23349634
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
GO:0008168 Function Methyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615263 32221 ENSG00000118894
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96G04
Protein name Protein-lysine N-methyltransferase EEF2KMT (EC 2.1.1.-) (eEF2-lysine methyltransferase) (eEF2-KMT)
Protein function Catalyzes the trimethylation of eukaryotic elongation factor 2 (EEF2) on 'Lys-525'.
PDB 8FZB
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14904 FAM86 6 → 99 Family of unknown function Family
PF10294 Methyltransf_16 122 → 297 Lysine methyltransferase Family
Sequence
Sequence length 330
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Protein methylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (3)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALG1-congenital disorder of glycosylation Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1K — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Hodgkin Disease Hodgkin disease Pubtator 35977101 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only