This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008] See more...

Aliases for EEF1B2 Gene

Aliases for EEF1B2 Gene

  • Eukaryotic Translation Elongation Factor 1 Beta 2 2 3 5
  • Elongation Factor 1-Beta 3 4
  • EF-1-Beta 3 4
  • EEF1B 3 4
  • EF1B 3 4
  • Eukaryotic Translation Elongation Factor 1 Beta 1 3
  • EEF1B1 3
  • EEF1B2 5

External Ids for EEF1B2 Gene

Previous GeneCards Identifiers for EEF1B2 Gene

  • GC02P205241
  • GC02P205748
  • GC02P206988
  • GC02P207227
  • GC02P207228
  • GC02P206849
  • GC02P206732
  • GC02P207024

Summaries for EEF1B2 Gene

Entrez Gene Summary for EEF1B2 Gene

  • This gene encodes a translation elongation factor. The protein is a guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome. Alternative splicing results in three transcript variants which differ only in the 5' UTR. [provided by RefSeq, Jul 2008]

GeneCards Summary for EEF1B2 Gene

EEF1B2 (Eukaryotic Translation Elongation Factor 1 Beta 2) is a Protein Coding gene. Diseases associated with EEF1B2 include Visual Epilepsy and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Viral mRNA Translation and Gene Expression. Gene Ontology (GO) annotations related to this gene include translation elongation factor activity. An important paralog of this gene is EEF1D.

UniProtKB/Swiss-Prot Summary for EEF1B2 Gene

  • EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP.

Gene Wiki entry for EEF1B2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EEF1B2 Gene

Genomics for EEF1B2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EEF1B2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EEF1B2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EEF1B2

Top Transcription factor binding sites by QIAGEN in the EEF1B2 gene promoter:
  • AREB6
  • Brachyury
  • CREB
  • deltaCREB
  • ITF-2
  • NF-Y
  • Nkx2-5
  • POU2F1
  • POU2F1a
  • Tal-1beta

Genomic Locations for EEF1B2 Gene

Genomic Locations for EEF1B2 Gene
chr2:206,159,585-206,162,929
(GRCh38/hg38)
Size:
3,345 bases
Orientation:
Plus strand
chr2:207,024,309-207,027,653
(GRCh37/hg19)
Size:
3,345 bases
Orientation:
Plus strand

Genomic View for EEF1B2 Gene

Genes around EEF1B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EEF1B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EEF1B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EEF1B2 Gene

Proteins for EEF1B2 Gene

  • Protein details for EEF1B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P24534-EF1B_HUMAN
    Recommended name:
    Elongation factor 1-beta
    Protein Accession:
    P24534
    Secondary Accessions:
    • A8K795
    • Q6IBH9

    Protein attributes for EEF1B2 Gene

    Size:
    225 amino acids
    Molecular mass:
    24764 Da
    Quaternary structure:
    • EF-1 is composed of 4 subunits: alpha, beta, delta, and gamma.

    Three dimensional structures from OCA and Proteopedia for EEF1B2 Gene

neXtProt entry for EEF1B2 Gene

Post-translational modifications for EEF1B2 Gene

  • Phosphorylation affects the GDP/GTP exchange rate.
  • Ubiquitination at Lys7, Lys78, Lys147, and Lys176
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for EEF1B2
  • Santa Cruz Biotechnology (SCBT) Antibodies for EEF1B2

No data available for DME Specific Peptides for EEF1B2 Gene

Domains & Families for EEF1B2 Gene

Gene Families for EEF1B2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for EEF1B2 Gene

Suggested Antigen Peptide Sequences for EEF1B2 Gene

GenScript: Design optimal peptide antigens:
  • Elongation factor 1-beta (EF1B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P24534

UniProtKB/Swiss-Prot:

EF1B_HUMAN :
  • Belongs to the EF-1-beta/EF-1-delta family.
Family:
  • Belongs to the EF-1-beta/EF-1-delta family.
genes like me logo Genes that share domains with EEF1B2: view

Function for EEF1B2 Gene

Molecular function for EEF1B2 Gene

UniProtKB/Swiss-Prot Function:
EF-1-beta and EF-1-delta stimulate the exchange of GDP bound to EF-1-alpha to GTP.
UniProtKB/Swiss-Prot Induction:
By homocysteine (HC), may mediate accelerated synthesis of free thiol-containing proteins in response to HC-induced oxidative stress.
GENATLAS Biochemistry:
eukaryotic translation elongation factor 1,beta 2,specifically transcribed in fetal brain and in skeletal muscle (multigene family)

Phenotypes From GWAS Catalog for EEF1B2 Gene

Gene Ontology (GO) - Molecular Function for EEF1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 translation elongation factor activity NAS 1886777
GO:0005085 guanyl-nucleotide exchange factor activity IBA 21873635
GO:0005515 protein binding IPI 16169070
genes like me logo Genes that share ontologies with EEF1B2: view
genes like me logo Genes that share phenotypes with EEF1B2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EEF1B2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EEF1B2 Gene

Localization for EEF1B2 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 EEF1B2 gene
Compartment Confidence
cytosol 4
nucleus 3
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EEF1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 NOT nucleus IDA 12426392
GO:0005737 cytoplasm IDA 8743958
GO:0005783 colocalizes_with endoplasmic reticulum IDA 8743958
GO:0005829 cytosol TAS --
GO:0005853 eukaryotic translation elongation factor 1 complex NAS 1886777
genes like me logo Genes that share ontologies with EEF1B2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for EEF1B2 Gene

Pathways & Interactions for EEF1B2 Gene

genes like me logo Genes that share pathways with EEF1B2: view

Pathways by source for EEF1B2 Gene

1 BioSystems pathway for EEF1B2 Gene

SIGNOR curated interactions for EEF1B2 Gene

Other effect:

Gene Ontology (GO) - Biological Process for EEF1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006414 translational elongation TAS --
GO:0045471 response to ethanol IEA --
genes like me logo Genes that share ontologies with EEF1B2: view

Drugs & Compounds for EEF1B2 Gene

(1) Drugs for EEF1B2 Gene - From: HMDB

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

(4) Additional Compounds for EEF1B2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EEF1B2: view

Transcripts for EEF1B2 Gene

mRNA/cDNA for EEF1B2 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EEF1B2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EEF1B2 Gene

No ASD Table

Relevant External Links for EEF1B2 Gene

GeneLoc Exon Structure for
EEF1B2

Expression for EEF1B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EEF1B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EEF1B2 Gene



Protein tissue co-expression partners for EEF1B2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EEF1B2

SOURCE GeneReport for Unigene cluster for EEF1B2 Gene:

Hs.421608

Evidence on tissue expression from TISSUES for EEF1B2 Gene

  • Pancreas(4.9)
  • Nervous system(4.9)
  • Skin(4.9)
  • Liver(4.8)
  • Eye(4.7)
  • Blood(4.7)
  • Intestine(4.5)
  • Lung(4.5)
  • Muscle(3.4)
  • Kidney(3)
  • Heart(2.9)
  • Stomach(2.5)
  • Spleen(2.5)
  • Bone marrow(2.3)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with EEF1B2: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EEF1B2 Gene

Orthologs for EEF1B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EEF1B2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EEF1B2 30 31
  • 99.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EEF1B 31
  • 98 (a)
OneToOne
EEF1B2 30
  • 91.11 (n)
Dog
(Canis familiaris)
Mammalia EEF1B2 30
  • 93.04 (n)
-- 31
  • 92 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia EEF1B2 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Eef1b2 30 17 31
  • 89.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Eef1b2 30
  • 89.19 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia EEF1B2 31
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EEF1B2 30 31
  • 81.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EEF1B2 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia eef1b2 30
  • 78.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.20382 30
Zebrafish
(Danio rerio)
Actinopterygii eef1b2 30 31
  • 73.81 (n)
OneToOne
-- 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010613 30
  • 60.33 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Ef1beta 30 31
  • 58.67 (n)
ManyToMany
Ef1&bgr; 32
  • 57 (a)
Worm
(Caenorhabditis elegans)
Secernentea Y41E3.10 32
  • 65 (a)
eef-1B.1 30 31
  • 55.07 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C18469g 30
  • 53.14 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes EFB1 30 31
  • 52.36 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR003C 30
  • 50.16 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G19510 30
  • 52.7 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0662500 30
  • 53.46 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.11115 31
  • 67 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tef5 30
  • 58.53 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU06035 30
  • 57.59 (n)
Species where no ortholog for EEF1B2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EEF1B2 Gene

ENSEMBL:
Gene Tree for EEF1B2 (if available)
TreeFam:
Gene Tree for EEF1B2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EEF1B2: view image

Paralogs for EEF1B2 Gene

Paralogs for EEF1B2 Gene

(3) SIMAP similar genes for EEF1B2 Gene using alignment to 5 proteins:

  • EF1B_HUMAN
  • C9JZW3_HUMAN
  • F2Z2G2_HUMAN
  • F8WF65_HUMAN
  • F8WFC9_HUMAN
genes like me logo Genes that share paralogs with EEF1B2: view

Variants for EEF1B2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EEF1B2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
689450 Pathogenic: Intellectual disability; Seizures; Moderate global developmental delay 206,162,090(+) C/A NONSENSE
785986 Benign: not provided 206,161,480(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for EEF1B2 Gene

Structural Variations from Database of Genomic Variants (DGV) for EEF1B2 Gene

Variant ID Type Subtype PubMed ID
nsv821885 CNV gain 20364138
nsv963768 CNV duplication 23825009

Variation tolerance for EEF1B2 Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.65; 45.68% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EEF1B2 Gene

Human Gene Mutation Database (HGMD)
EEF1B2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EEF1B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EEF1B2 Gene

Disorders for EEF1B2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EEF1B2 Gene - From: ClinVar and DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with EEF1B2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EEF1B2 Gene

Publications for EEF1B2 Gene

  1. Human elongation factor 1 beta: cDNA and derived amino acid sequence. (PMID: 1710449) von der Kammer H … Scheit KH (Biochemical and biophysical research communications 1991) 3 4 23
  2. Nucleotide sequence of human elongation factor-1 beta cDNA. (PMID: 1886777) Sanders J … Möller W (Nucleic acids research 1991) 3 4 23
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  5. 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

Products for EEF1B2 Gene

  • Signalway Proteins for EEF1B2

Sources for EEF1B2 Gene