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Aliases for EEF2KMT Gene

Aliases for EEF2KMT Gene

  • Eukaryotic Elongation Factor 2 Lysine Methyltransferase 2 3 5
  • Family With Sequence Similarity 86, Member A 2 3
  • EEF2-Lysine Methyltransferase 3 4
  • EEF2-KMT 3 4
  • FAM86A 3 4
  • Putative Protein N-Methyltransferase FAM86A 3
  • Protein-Lysine N-Methyltransferase EEF2KMT 3
  • Protein FAM86A 3
  • EC 2.1.1.- 4
  • SB153 3
  • EFM3 3

External Ids for EEF2KMT Gene

Previous HGNC Symbols for EEF2KMT Gene

  • FAM86A

Summaries for EEF2KMT Gene

GeneCards Summary for EEF2KMT Gene

EEF2KMT (Eukaryotic Elongation Factor 2 Lysine Methyltransferase) is a Protein Coding gene. Among its related pathways are Protein methylation and Metabolism of proteins. GO annotations related to this gene include protein-lysine N-methyltransferase activity. An important paralog of this gene is FAM86B2.

UniProtKB/Swiss-Prot for EEF2KMT Gene

  • Catalyzes the trimethylation of eukaryotic elongation factor 2 (EEF2) on Lys-525.

Additional gene information for EEF2KMT Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EEF2KMT Gene

Genomics for EEF2KMT Gene

Regulatory Elements for EEF2KMT Gene

Enhancers for EEF2KMT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H004692 1.3 ENCODE dbSUPER 22.1 +403.6 403598 4.3 HDGF PKNOX1 ATF1 ARNT ZNF493 ARID4B SIN3A DMAP1 YY1 ELK1 ZNF500 CREBBP MGRN1 EEF2KMT UBN1 ANKS3 ALG1 GLYR1 HMOX2 NUDT16L1
GH16H004536 1.8 FANTOM5 ENCODE dbSUPER 11.5 +559.6 559629 2.6 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 CDIP1 ZNF500 NMRAL1 ANKS3 ENSG00000261938 CREBBP EEF2KMT HMOX2 GLIS2-AS1 GLIS2
GH16H004611 1.7 Ensembl ENCODE dbSUPER 9.9 +482.2 482249 9.1 ZFP64 DMAP1 YY1 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN NR2C1 CREBBP ZNF500 MGRN1 ANKS3 UBN1 EEF2KMT HMOX2 GC16M004615
GH16H004800 1.3 ENCODE dbSUPER 12.4 +295.0 294969 5.7 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 FOS SP3 CREBBP ZNF500 ROGDI SEPT12 ENSG00000267077 UBN1 EEF2KMT PAM16
GH16H004733 1.1 ENCODE 12.4 +363.3 363335 2.2 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF207 ZNF500 UBN1 EEF2KMT CREBBP LOC102724927 MGRN1 ANKS3 ENSG00000266994
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EEF2KMT on UCSC Golden Path with GeneCards custom track

Genomic Locations for EEF2KMT Gene

Genomic Locations for EEF2KMT Gene
chr16:5,084,300-5,097,820
(GRCh38/hg38)
Size:
13,521 bases
Orientation:
Minus strand
chr16:5,134,301-5,147,809
(GRCh37/hg19)

Genomic View for EEF2KMT Gene

Genes around EEF2KMT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EEF2KMT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EEF2KMT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EEF2KMT Gene

Proteins for EEF2KMT Gene

  • Protein details for EEF2KMT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96G04-EF2KT_HUMAN
    Recommended name:
    Protein-lysine N-methyltransferase EEF2KMT
    Protein Accession:
    Q96G04
    Secondary Accessions:
    • D3DUF0
    • Q96S85

    Protein attributes for EEF2KMT Gene

    Size:
    330 amino acids
    Molecular mass:
    36915 Da
    Quaternary structure:
    • Interacts with FAM86B2 and FAM86C1.

    Alternative splice isoforms for EEF2KMT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EEF2KMT Gene

Post-translational modifications for EEF2KMT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EEF2KMT Gene

Domains & Families for EEF2KMT Gene

Gene Families for EEF2KMT Gene

Protein Domains for EEF2KMT Gene

Graphical View of Domain Structure for InterPro Entry

Q96G04

UniProtKB/Swiss-Prot:

EF2KT_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. EEF2KMT family.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. EEF2KMT family.
genes like me logo Genes that share domains with EEF2KMT: view

Function for EEF2KMT Gene

Molecular function for EEF2KMT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the trimethylation of eukaryotic elongation factor 2 (EEF2) on Lys-525.

Enzyme Numbers (IUBMB) for EEF2KMT Gene

Phenotypes From GWAS Catalog for EEF2KMT Gene

Gene Ontology (GO) - Molecular Function for EEF2KMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008168 methyltransferase activity IEA --
GO:0016279 protein-lysine N-methyltransferase activity TAS --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with EEF2KMT: view
genes like me logo Genes that share phenotypes with EEF2KMT: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EEF2KMT Gene

Localization for EEF2KMT Gene

Subcellular locations from UniProtKB/Swiss-Prot for EEF2KMT Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EEF2KMT gene
Compartment Confidence
cytosol 5
nucleus 2
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EEF2KMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 23349634
GO:0005829 cytosol TAS --
GO:0043234 protein complex IDA 23349634
genes like me logo Genes that share ontologies with EEF2KMT: view

Pathways & Interactions for EEF2KMT Gene

genes like me logo Genes that share pathways with EEF2KMT: view

Pathways by source for EEF2KMT Gene

Gene Ontology (GO) - Biological Process for EEF2KMT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006479 protein methylation TAS --
GO:0018023 peptidyl-lysine trimethylation IDA 25231979
GO:0032259 methylation IEA --
genes like me logo Genes that share ontologies with EEF2KMT: view

No data available for SIGNOR curated interactions for EEF2KMT Gene

Drugs & Compounds for EEF2KMT Gene

No Compound Related Data Available

Transcripts for EEF2KMT Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EEF2KMT Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1:
SP2: -

Relevant External Links for EEF2KMT Gene

GeneLoc Exon Structure for
EEF2KMT
ECgene alternative splicing isoforms for
EEF2KMT

Expression for EEF2KMT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EEF2KMT Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EEF2KMT Gene



NURSA nuclear receptor signaling pathways regulating expression of EEF2KMT Gene:

EEF2KMT

Evidence on tissue expression from TISSUES for EEF2KMT Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with EEF2KMT: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EEF2KMT Gene

Orthologs for EEF2KMT Gene

This gene was present in the common ancestor of animals.

Orthologs for EEF2KMT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC742623 33
  • 94.22 (n)
-- 34
  • 90 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia FAM86A 33
  • 83.61 (n)
-- 34
  • 69 (a)
OneToMany
cow
(Bos Taurus)
Mammalia FAM86A 34 33
  • 82.32 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fam86a 33
  • 78.32 (n)
mouse
(Mus musculus)
Mammalia Fam86 34 33
  • 77.91 (n)
OneToMany
Eef2kmt 16
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM86A 34 33
  • 61.22 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fam86a 33
  • 56.78 (n)
zebrafish
(Danio rerio)
Actinopterygii fam86a 34 33
  • 56.88 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7889 33 34
  • 44.36 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004255 33
  • 44.22 (n)
worm
(Caenorhabditis elegans)
Secernentea R08D7.4 34
  • 22 (a)
OneToMany
Species where no ortholog for EEF2KMT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EEF2KMT Gene

ENSEMBL:
Gene Tree for EEF2KMT (if available)
TreeFam:
Gene Tree for EEF2KMT (if available)

Paralogs for EEF2KMT Gene

Variants for EEF2KMT Gene

Sequence variations from dbSNP and Humsavar for EEF2KMT Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs397714567 Benign 5,084,899(+) GGCTA(-/TA)AAACC nc-transcript-variant, utr-variant-3-prime
rs59332251 Benign 5,084,897(+) GGCTA(-/TA/TATA/TG)AAACC nc-transcript-variant, utr-variant-3-prime
rs9745522 Benign 5,084,773(+) CCTGA(A/T)CCTGC nc-transcript-variant, reference, missense, utr-variant-3-prime
rs1000071413 -- 5,094,815(+) AGGAT(A/G)TCTGC intron-variant
rs1000082838 -- 5,098,815(+) TTGGC(A/G)GGGGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for EEF2KMT Gene

Variant ID Type Subtype PubMed ID
nsv977106 CNV duplication 23825009
nsv952909 CNV deletion 24416366
nsv817715 CNV gain 17921354
nsv571304 CNV loss 21841781
nsv571303 CNV loss 21841781
nsv482189 CNV gain 20164927
nsv482188 CNV gain 20164927
nsv457360 CNV loss 19166990
nsv428318 CNV gain 18775914
nsv1052766 CNV loss 25217958
nsv1046986 CNV gain 25217958
nsv1042612 CNV loss 25217958
nsv1038475 CNV gain 25217958
nsv1035156 CNV gain 25217958
esv3637718 CNV loss 21293372
esv3637713 CNV gain 21293372
esv34300 CNV gain 17911159
esv2760069 CNV gain+loss 17122850
esv25186 CNV gain 19812545
esv2422516 CNV deletion 17116639

Variation tolerance for EEF2KMT Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.56; 64.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EEF2KMT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EEF2KMT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EEF2KMT Gene

Disorders for EEF2KMT Gene

Relevant External Links for EEF2KMT

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EEF2KMT

No disorders were found for EEF2KMT Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EEF2KMT Gene

Publications for EEF2KMT Gene

  1. Identification and characterization of a novel evolutionarily conserved lysine-specific methyltransferase targeting eukaryotic translation elongation factor 2 (eEF2). (PMID: 25231979) Davydova E … Falnes PØ (The Journal of biological chemistry 2014) 2 3 4 60
  2. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P … Coulombe B (PLoS genetics 2013) 3 4 60
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for EEF2KMT Gene

Sources for EEF2KMT Gene

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