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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
  • 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 Mental Retardation, Autosomal Dominant 38 and Epileptic Encephalopathy, Early Infantile, 33. Among its related pathways are Viral mRNA Translation and Gene Expression. 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 CIViC summary , 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
GH20G063455 1.1 dbSUPER 17.6 +42.2 42211 2.2 HDGF PKNOX1 FOXA2 CREB3L1 ZBTB7B ZNF207 FOS SP3 JUNB ZHX2 RTEL1 TNFRSF6B MIR647 EEF1A2 PCMTD2 ZNF512B ARFGAP1 LOC105372725 PRPF6 ZBTB46
GH20G063524 1 dbSUPER 12.6 -26.2 -26154 2.4 ARID4B SIN3A DMAP1 ZNF48 ZBTB7B YY1 ZNF121 GLIS2 ZNF143 FOS SRMS PTK6 LOC105372725 EEF1A2 FNDC11 GC20M063514
GH20G063496 1.6 Ensembl ENCODE dbSUPER 7.6 -1.0 -1036 6.9 HDGF PKNOX1 FOXA2 AGO1 ZFP64 SIN3A ARID4B ZBTB7B YY1 FOS LOC105372725 PPDPF EEF1A2 PTK6 ZGPAT
GH20G063459 0.8 dbSUPER 13.3 +38.7 38678 2.4 FOXA2 ARID4B SIN3A ZNF48 ZSCAN9 GLIS2 EGR1 SCRT2 EGR2 ZNF263 ENSG00000226390 EEF1A2 LOC105372725 KCNQ2
GH20G063468 0.7 dbSUPER 11.9 +29.5 29460 3.6 MXI1 ZNF280D RNF2 NFIB MTA2 ZBTB8A RBBP5 HIC1 GLIS2 POLR2A ENSG00000226390 EEF1A2 LOC105372725 KCNQ2 ZNF512B
- 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
ENSR00000139913 215 601 TBP RB1 SIN3A KLF17 SCRT2 SP3 KLF16 SMARCA4 ZBTB26 MYC

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 isoforms=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 :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-Tu/EF-1A subfamily.
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

CRISPR Products

Inhibitory RNA Products

Clone 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:

CRISPR Products

Inhibitory RNA Products

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for EEF1A2 Gene

  • Nervous system(4.9)
  • Intestine(4.6)
  • Lung(4.6)
  • Muscle(4.3)
  • Heart(4)
  • Pancreas(4)
  • Eye(3.7)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EEF1A2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • lip
  • nose
  • outer ear
  • skull
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
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 Pathogenic, Epileptic encephalopathy, early infantile, 33 (EIEE33) [MIM:616409] 63,495,972(+) GATGC(C/T)GCGCT reference, missense
rs786205865 Pathogenic, Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393] 63,493,155(-) TGCAG(C/G)ACGTG reference, missense
rs786205866 Pathogenic, Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393] 63,495,062(-) TGGGC(A/G)AGTTC reference, missense
rs886039346 Pathogenic 63,488,423(-) CAGGC(C/T)GCTTC reference, missense
rs886041197 Pathogenic 63,495,909(-) TCATC(A/G)ATGCC reference, missense

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

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

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

(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. 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

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