Free for academic non-profit institutions. Other users need a Commercial license

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
  • Elongation Factor 1-Alpha 2 3
  • 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 Viral mRNA Translation and Legionellosis. 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

Enhancers for EEF1A2 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
GH20F063452 1.7 FANTOM5 Ensembl ENCODE 17.9 +44.5 44483 5.5 HDGF PKNOX1 CREB3L1 ZNF207 FOS ZNF263 SP3 JUNB ZHX2 REST MIR647 RTEL1 ENSG00000226390 EEF1A2 ZNF512B KCNQ2 ARFGAP1 TNFRSF6B LOC105372725 MIR1914
GH20F063496 1.3 Ensembl ENCODE 7.7 -1.0 -1036 6.9 PKNOX1 ZFP64 ARID4B SIN3A YY1 FOS SP3 SP5 ZHX2 REST MIR647 GMEB2 MIR1914 PRPF6 RTEL1 LOC105372725 CICP4 PPDPF EEF1A2 PTK6
GH20F063457 0.8 Ensembl 12.4 +41.6 41614 0.2 RING1 BCOR ATF1 ZNF175 MAX BACH1 EBF1 ZIC2 HIC1 ZNF335 RTEL1 ARFGAP1 TNFRSF6B ZNF512B LOC105372725 EEF1A2 ENSG00000226390 KCNQ2
GH20F063179 1.2 FANTOM5 ENCODE 3.2 +319.9 319872 0.2 TBL1XR1 KLF17 SIN3A RAD21 GLIS2 EGR1 ZNF366 SCRT2 ZNF143 EGR2 KCNQ2 CHRNA4 STMN3 NKAIN4 EEF1A2 COL20A1 ENSG00000231977 MIR124-3
GH20F063177 0.9 FANTOM5 4.1 +321.9 321927 0.5 CTCF ZSCAN18 SUZ12 ZNF76 KLF17 ZNF121 ZFHX2 POLR2A ZNF169 ZNF433 CHRNA4 BIRC7 ZNF512B KCNQ2 NKAIN4 COL20A1 STMN3 EEF1A2 GC20P063181 LOC105376996
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EEF1A2 on UCSC Golden Path with GeneCards custom track

Promoters for EEF1A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001839227 515 1201 SIN3A GLIS2 FOS ZNF202 SP3 YY2 ZHX2 REST SMARCB1 MBD2

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

Post-translational modifications for EEF1A2 Gene

  • Ubiquitination at Lys 172
  • Modification sites at PhosphoSitePlus

Other Protein References for EEF1A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:0003924 GTPase activity IBA --
GO:0005515 protein binding IPI 25416956
GO:0005525 GTP binding IEA --
GO:0008135 translation factor activity, RNA binding NAS 8812466
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

Inhibitory RNA Products

Clone 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
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 EEF1A2 gene
Compartment Confidence
lysosome 4
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EEF1A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 NOT nucleus IDA 12426392
GO:0005737 cytoplasm IDA 12426392
GO:0005853 eukaryotic translation elongation factor 1 complex IEA --
GO:0043025 neuronal cell body IEA --
GO:0043209 myelin sheath 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:0006412 translation IEA --
GO:0006414 translational elongation IEA --
GO:0010035 response to inorganic substance IEA --
GO:0043065 positive regulation of apoptotic process 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

(3) Drugs for EEF1A2 Gene - From: HMDB

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

(1) 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
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for EEF1A2 Gene



NURSA nuclear receptor signaling pathways regulating expression of EEF1A2 Gene:

EEF1A2

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

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
oppossum
(Monodelphis domestica)
Mammalia EEF1A2 35
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EEF1A2 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EEF1A2 34 35
  • 91.5 (n)
rat
(Rattus norvegicus)
Mammalia Eef1a2 34
  • 89.27 (n)
mouse
(Mus musculus)
Mammalia Eef1a2 34 16 35
  • 89.13 (n)
dog
(Canis familiaris)
Mammalia EEF1A2 35
  • 84 (a)
OneToOne
LOC102155289 34
  • 77.8 (n)
chimpanzee
(Pan troglodytes)
Mammalia EEF1A2 34 35
  • 78.31 (n)
chicken
(Gallus gallus)
Aves EF1A 35
  • 100 (a)
OneToOne
EEF1A2 34
  • 88.91 (n)
lizard
(Anolis carolinensis)
Reptilia EEF1A2 35
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eef1a2 34
  • 84.23 (n)
zebrafish
(Danio rerio)
Actinopterygii eef1a2 34 35
  • 79.27 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Ef1alpha48D 36 35
  • 84 (a)
Ef1alpha100E 36 34
  • 77.68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003541 34
  • 78.99 (n)
worm
(Caenorhabditis elegans)
Secernentea eft-3 36
  • 84 (a)
eef-1A.1 35
  • 84 (a)
ManyToMany
eef-1A.2 35
  • 84 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TEF2 35
  • 80 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.12625 34
wheat
(Triticum aestivum)
Liliopsida Ta.2078 34
corn
(Zea mays)
Liliopsida Zm.3892 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11100 35
  • 82 (a)
ManyToMany
CSA.4537 35
  • 81 (a)
ManyToMany
-- 35
  • 78 (a)
ManyToMany
CSA.11147 35
  • 37 (a)
ManyToMany
Species where no ortholog for EEF1A2 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)
  • 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

Variants for EEF1A2 Gene

Sequence variations from dbSNP and Humsavar for EEF1A2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs587777162 Epileptic encephalopathy, early infantile, 33 (EIEE33) [MIM:616409], Pathogenic 63,495,972(+) GATGC(C/T)GCGCT reference, missense
rs786205865 Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393], Pathogenic 63,493,155(-) TGCAG(C/G)ACGTG reference, missense
rs786205866 Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393], Pathogenic 63,495,062(-) TGGGC(A/G)AGTTC reference, missense
rs879255373 Uncertain significance 63,488,307(-) AGGCG(-/CAGAAGGCG)GGCAA cds-indel
rs1042796 -- 63,488,364(-) GTGGA(A/G)AAGAA reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv9825 CNV gain 18304495
nsv953306 CNV deletion 24416366
nsv834034 CNV loss 17160897
nsv834033 CNV gain 17160897
nsv586569 CNV loss 21841781
nsv586568 CNV loss 21841781
nsv470563 CNV loss 18288195
nsv3448 CNV insertion 18451855
nsv1072556 CNV deletion 25765185
esv2758806 CNV gain+loss 17122850
esv2722932 CNV deletion 23290073
esv2722931 CNV deletion 23290073
dgv7666n54 CNV loss 21841781

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

Human Gene Mutation Database (HGMD)
EEF1A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EEF1A2

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

Disorders for EEF1A2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for EEF1A2 Gene - From: OMIM, ClinVar, 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. The human elongation factor 1 A-2 gene (EEF1A2): complete sequence and characterization of gene structure and promoter activity. (PMID: 10950927) Bischoff C. … Leffers H. (Genomics 2000) 3 4 22 64
  2. 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 64
  3. De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy. (PMID: 24697219) Nakajima J. … Miyake N. (Clin. Genet. 2015) 3 4 64
  4. 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 22 64
  5. 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 22 64

Products for EEF1A2 Gene

Sources for EEF1A2 Gene

Content
Loading form....