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Aliases for EEF1A2 Gene

Aliases for EEF1A2 Gene

  • Eukaryotic Translation Elongation Factor 1 Alpha 2 2 3 5
  • Eukaryotic Elongation Factor 1 A-2 3 4
  • EF-1-Alpha-2 3 4
  • Statin-S1 3 4
  • EEF1AL 3 4
  • STN 3 4
  • Statin-Like 2
  • EEF1A-2 4
  • Statin 2
  • EIEE33 3
  • MRD38 3
  • EF1A 3
  • STNL 3
  • HS1 3

External Ids for EEF1A2 Gene

Previous HGNC Symbols for EEF1A2 Gene

  • STNL
  • STN

Previous GeneCards Identifiers for EEF1A2 Gene

  • GC20M061996
  • GC20M062798
  • GC20M062845
  • GC20M061589
  • GC20M062119
  • GC20M058848

Summaries for EEF1A2 Gene

Entrez Gene Summary for EEF1A2 Gene

  • This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. [provided by RefSeq, Mar 2014]

GeneCards Summary for EEF1A2 Gene

EEF1A2 (Eukaryotic Translation Elongation Factor 1 Alpha 2) is a Protein Coding gene. Diseases associated with EEF1A2 include epileptic encephalopathy, early infantile, 33 and mental retardation, autosomal dominant 38. Among its related pathways are Gene Expression and Transport to the Golgi and subsequent modification. GO annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is EEF1A1.

UniProtKB/Swiss-Prot for EEF1A2 Gene

  • This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.

Gene Wiki entry for EEF1A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EEF1A2 Gene

Genomics for EEF1A2 Gene

Regulatory Elements for EEF1A2 Gene

Genomic Location for EEF1A2 Gene

Chromosome:
20
Start:
63,488,012 bp from pter
End:
63,499,315 bp from pter
Size:
11,304 bases
Orientation:
Minus strand

Genomic View for EEF1A2 Gene

Genes around EEF1A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EEF1A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EEF1A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EEF1A2 Gene

Proteins for EEF1A2 Gene

  • Protein details for EEF1A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q05639-EF1A2_HUMAN
    Recommended name:
    Elongation factor 1-alpha 2
    Protein Accession:
    Q05639
    Secondary Accessions:
    • B5BUF3
    • E1P5J1
    • P54266
    • Q0VGC7

    Protein attributes for EEF1A2 Gene

    Size:
    463 amino acids
    Molecular mass:
    50470 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for EEF1A2 Gene

neXtProt entry for EEF1A2 Gene

Proteomics data for EEF1A2 Gene at MOPED

Post-translational modifications for EEF1A2 Gene

  • Ubiquitination at Lys 172
  • Modification sites at PhosphoSitePlus

Other Protein References for EEF1A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EEF1A2 Gene

Domains & Families for EEF1A2 Gene

Suggested Antigen Peptide Sequences for EEF1A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q05639

UniProtKB/Swiss-Prot:

EF1A2_HUMAN :
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.
Domain:
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.
genes like me logo Genes that share domains with EEF1A2: view

No data available for Gene Families for EEF1A2 Gene

Function for EEF1A2 Gene

Molecular function for EEF1A2 Gene

GENATLAS Biochemistry:
eukaryotic translation elongation factor 1,alpha 2,expressed in a tissue specific pattern
UniProtKB/Swiss-Prot Function:
This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis.

Gene Ontology (GO) - Molecular Function for EEF1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 translation elongation factor activity IBA --
GO:0005515 protein binding IEA,IPI 25416956
genes like me logo Genes that share ontologies with EEF1A2: view
genes like me logo Genes that share phenotypes with EEF1A2: view

Human Phenotype Ontology for EEF1A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for EEF1A2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EEF1A2 Gene

Localization for EEF1A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EEF1A2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EEF1A2 Gene COMPARTMENTS Subcellular localization image for EEF1A2 gene
Compartment Confidence
lysosome 4
vacuole 4
cytosol 3
cytoskeleton 2
mitochondrion 2
extracellular 1
golgi apparatus 1
nucleus 1

Gene Ontology (GO) - Cellular Components for EEF1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 12426392
GO:0005853 eukaryotic translation elongation factor 1 complex IEA --
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with EEF1A2: view

Pathways & Interactions for EEF1A2 Gene

genes like me logo Genes that share pathways with EEF1A2: view

Pathways by source for EEF1A2 Gene

1 BioSystems pathway for EEF1A2 Gene
2 KEGG pathways for EEF1A2 Gene

Gene Ontology (GO) - Biological Process for EEF1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006414 translational elongation IEA --
GO:0051602 response to electrical stimulus IEA --
genes like me logo Genes that share ontologies with EEF1A2: view

No data available for SIGNOR curated interactions for EEF1A2 Gene

Drugs & Compounds for EEF1A2 Gene

(2) Drugs for EEF1A2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for EEF1A2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with EEF1A2: view

Transcripts for EEF1A2 Gene

mRNA/cDNA for EEF1A2 Gene

Unigene Clusters for EEF1A2 Gene

Eukaryotic translation elongation factor 1 alpha 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EEF1A2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c
SP1: - -
SP2: -
SP3: - - - -
SP4:
SP5: -

Relevant External Links for EEF1A2 Gene

GeneLoc Exon Structure for
EEF1A2
ECgene alternative splicing isoforms for
EEF1A2

Expression for EEF1A2 Gene

mRNA expression in normal human tissues for EEF1A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EEF1A2 Gene

This gene is overexpressed in Muscle - Skeletal (x15.7) and Heart - Left Ventricle (x6.9).

Protein differential expression in normal tissues from HIPED for EEF1A2 Gene

This gene is overexpressed in Tonsil (19.9), Saliva (18.4), and Heart (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EEF1A2 Gene



SOURCE GeneReport for Unigene cluster for EEF1A2 Gene Hs.433839

mRNA Expression by UniProt/SwissProt for EEF1A2 Gene

Q05639-EF1A2_HUMAN
Tissue specificity: Brain, heart, and skeletal muscle.
genes like me logo Genes that share expression patterns with EEF1A2: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for EEF1A2 Gene

Orthologs for EEF1A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EEF1A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EEF1A2 35
  • 78.31 (n)
  • 92.41 (a)
EEF1A2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EEF1A2 36
  • 100 (a)
OneToOne
EEF1A2 35
  • 91.5 (n)
  • 100 (a)
dog
(Canis familiaris)
Mammalia LOC102155289 35
  • 77.8 (n)
  • 92.62 (a)
EEF1A2 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eef1a2 16
Eef1a2 36
  • 100 (a)
OneToOne
Eef1a2 35
  • 89.13 (n)
  • 99.78 (a)
oppossum
(Monodelphis domestica)
Mammalia EEF1A2 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EEF1A2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eef1a2 35
  • 89.27 (n)
  • 99.78 (a)
chicken
(Gallus gallus)
Aves EF1A 36
  • 100 (a)
OneToOne
EEF1A2 35
  • 88.91 (n)
  • 99.57 (a)
lizard
(Anolis carolinensis)
Reptilia EEF1A2 36
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eef1a2 35
  • 84.23 (n)
  • 98.49 (a)
zebrafish
(Danio rerio)
Actinopterygii eef1a2 36
  • 94 (a)
OneToOne
-- 35
eef1a2 35
  • 79.27 (n)
  • 94.17 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003541 35
  • 78.99 (n)
  • 85.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ef1alpha100E 37
  • 83 (a)
Ef1alpha48D 37
  • 84 (a)
Ef1alpha100E 35
  • 77.68 (n)
  • 83.91 (a)
Ef1alpha48D 36
  • 84 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea eft-3 37
  • 84 (a)
eef-1A.1 36
  • 84 (a)
ManyToMany
eef-1A.2 36
  • 84 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TEF2 36
  • 80 (a)
OneToMany
corn
(Zea mays)
Liliopsida Zm.3892 35
rice
(Oryza sativa)
Liliopsida Os.12625 35
wheat
(Triticum aestivum)
Liliopsida Ta.2078 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 78 (a)
ManyToMany
CSA.11100 36
  • 82 (a)
ManyToMany
CSA.11147 36
  • 37 (a)
ManyToMany
CSA.4537 36
  • 81 (a)
ManyToMany
Species with no ortholog for EEF1A2:
  • 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)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)

Evolution for EEF1A2 Gene

ENSEMBL:
Gene Tree for EEF1A2 (if available)
TreeFam:
Gene Tree for EEF1A2 (if available)

Paralogs for EEF1A2 Gene

Paralogs for EEF1A2 Gene

(8) SIMAP similar genes for EEF1A2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with EEF1A2: view

Variants for EEF1A2 Gene

Sequence variations from dbSNP and Humsavar for EEF1A2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
VAR_069395 Epileptic encephalopathy, early infantile, 33 (EIEE33)
VAR_073807 Mental retardation, autosomal dominant 38 (MRD38)
VAR_073808 Mental retardation, autosomal dominant 38 (MRD38)
rs310605 -- 63,489,789(+) aaaaa(A/T)aaata intron-variant
rs310606 -- 63,489,961(+) ACCCG(C/G)GATTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EEF1A2 Gene

Variant ID Type Subtype PubMed ID
nsv9825 CNV Gain 18304495
dgv4618n71 CNV Loss 21882294
nsv913165 CNV Loss 21882294
dgv4630n71 CNV Loss 21882294
dgv4631n71 CNV Loss 21882294
nsv913189 CNV Loss 21882294
nsv913190 CNV Loss 21882294
dgv4633n71 CNV Loss 21882294
nsv834033 CNV Gain 17160897
dgv4634n71 CNV Loss 21882294
nsv913201 CNV Loss 21882294
dgv4635n71 CNV Gain+Loss 21882294
nsv834034 CNV Loss 17160897
dgv4636n71 CNV Loss 21882294
nsv913207 CNV Loss 21882294
dgv1344e1 CNV Complex 17122850
dgv4637n71 CNV Loss 21882294
nsv913213 CNV Loss 21882294
dgv4638n71 CNV Loss 21882294
dgv4639n71 CNV Loss 21882294
nsv470563 CNV Loss 18288195
nsv3448 CNV Insertion 18451855
esv2722931 CNV Deletion 23290073
esv2722932 CNV Deletion 23290073

Variation tolerance for EEF1A2 Gene

Residual Variation Intolerance Score: 14.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EEF1A2 Gene

HapMap Linkage Disequilibrium report
EEF1A2
Human Gene Mutation Database (HGMD)
EEF1A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EEF1A2 Gene

Disorders for EEF1A2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for EEF1A2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EF1A2_HUMAN
  • Epileptic encephalopathy, early infantile, 33 (EIEE33) [MIM:616409]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269 PubMed:23033978, ECO:0000269 PubMed:23647072}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD38 common features are severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly. {ECO:0000269 PubMed:24697219}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EEF1A2

Human Genome Epidemiology (HuGE) Navigator
EEF1A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EEF1A2
genes like me logo Genes that share disorders with EEF1A2: view

No data available for Genatlas for EEF1A2 Gene

Publications for EEF1A2 Gene

  1. Tissue-dependent variation in the expression of elongation factor-1 alpha isoforms: isolation and characterisation of a cDNA encoding a novel variant of human elongation-factor 1 alpha. (PMID: 8354261) Knudsen S.M. … Leffers H. (Eur. J. Biochem. 1993) 2 3 4 67
  2. Structural models of human eEF1A1 and eEF1A2 reveal two distinct surface clusters of sequence variation and potential differences in phosphorylation. (PMID: 19636410) Soares D.C. … Abbott C.M. (PLoS ONE 2009) 3 23
  3. Eukaryotic elongation factor 1A2 cooperates with phosphatidylinositol-4 kinase III beta to stimulate production of filopodia through increased phosphatidylinositol-4,5 bisphosphate generation. (PMID: 18474610) Jeganathan S. … Lee J.M. (Mol. Cell. Biol. 2008) 3 23
  4. Binding of elongation factor eEF1A2 to phosphatidylinositol 4-kinase beta stimulates lipid kinase activity and phosphatidylinositol 4-phosphate generation. (PMID: 17088255) Jeganathan S. … Lee J.M. (J. Biol. Chem. 2007) 3 23
  5. eEF1A2 activates Akt and stimulates Akt-dependent actin remodeling, invasion and migration. (PMID: 17130842) Amiri A. … Lee J.M. (Oncogene 2007) 3 23

Products for EEF1A2 Gene

Sources for EEF1A2 Gene

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