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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. Diseases associated with EEF2KMT include Hereditary Myopathy With Early Respiratory Failure. Among its related pathways are Metabolism of proteins and Protein methylation. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for EEF2KMT Gene

Promoters and enhancers for EEF2KMT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I005096 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.3 -288 3 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 POLR2B ZNF207 LOC105371065 EEF2KMT ANKS3 ZNF500
GH16I004692 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 22.1 +403.6 403597 4.3 HDGF PKNOX1 SMAD1 ATF1 ARNT ZNF493 ARID4B SIN3A DMAP1 ZNF48 NUDT16L1 ZNF500 MGRN1 EEF2KMT CREBBP UBN1 ANKS3 ALG1 GLYR1 HMOX2
GH16I004536 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.5 +559.6 559629 2.6 HDGF PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 CDIP1 C16orf96 ZNF500 NMRAL1 ANKS3 ENSG00000261938 CREBBP EEF2KMT HMOX2 GLIS2-AS1
GH16I004800 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.4 +295.0 294968 5.7 PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 FOS ZNF263 ROGDI GC16M004803 CREBBP SEPT12 ENSG00000267077 ZNF500 UBN1 EEF2KMT PAM16 GLYR1
GH16I004733 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 12.4 +363.4 363425 2.4 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 E2F8 ANKS3 C16orf71 ZNF500 CREBBP UBN1 EEF2KMT LOC102724927 MGRN1 GC16P004728 ENSG00000266994
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers 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

No data available for Human Phenotype Ontology , Animal Models , 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 IDA,IEA 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

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

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 33 34
  • 82.32 (n)
rat
(Rattus norvegicus)
Mammalia Fam86a 33
  • 78.32 (n)
mouse
(Mus musculus)
Mammalia Fam86 33 34
  • 77.91 (n)
Eef2kmt 16
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves FAM86A 33 34
  • 61.22 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia fam86a 33
  • 56.78 (n)
zebrafish
(Danio rerio)
Actinopterygii fam86a 33 34
  • 56.88 (n)
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 Variation AA Info Type
rs1047747 likely-pathogenic, not provided 5,084,828(-) C/T 3_prime_UTR_variant
rs538385814 likely-benign, not specified 5,084,767(-) T/C 3_prime_UTR_variant
rs59332251 benign, not specified 5,084,898(-) TA/TATA/TATATA 3_prime_UTR_variant
rs9745522 benign, not specified 5,084,773(-) T/A 3_prime_UTR_variant
rs1000071413 -- 5,094,815(-) A/G intron_variant

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

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

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for EEF2KMT Gene - From: GeneCards

Disorder Aliases PubMed IDs
hereditary myopathy with early respiratory failure
  • hmerf
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for EEF2KMT

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

No data available for 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 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for EEF2KMT Gene

Sources for EEF2KMT Gene

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