This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010] See more...

Aliases for GSPT2 Gene

Aliases for GSPT2 Gene

  • G1 To S Phase Transition 2 2 3 5
  • Eukaryotic Peptide Chain Release Factor GTP-Binding Subunit ERF3B 3 4
  • Eukaryotic Peptide Chain Release Factor Subunit 3b 3 4
  • ERF3B 3 4
  • G1 To S Phase Transition Protein 2 Homolog 4
  • ERF3b 4
  • GST2 3

External Ids for GSPT2 Gene

Previous GeneCards Identifiers for GSPT2 Gene

  • GC05P114495
  • GC0XP049533
  • GC0XP050171
  • GC0XP050403
  • GC0XP051319
  • GC0XP051503
  • GC0XP048925

Summaries for GSPT2 Gene

Entrez Gene Summary for GSPT2 Gene

  • This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010]

GeneCards Summary for GSPT2 Gene

GSPT2 (G1 To S Phase Transition 2) is a Protein Coding gene. Diseases associated with GSPT2 include Autism and Visual Epilepsy. Among its related pathways are Viral mRNA Translation and Gene Expression. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is GSPT1.

UniProtKB/Swiss-Prot Summary for GSPT2 Gene

  • Involved in translation termination in response to the termination codons UAA, UAG and UGA. May play a role as a potent stimulator of the release factor activity of ETF1. Exhibits GTPase activity, which is ribosome- and ETF1-dependent. May play a role in cell cycle progression. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons.

Gene Wiki entry for GSPT2 Gene

Additional gene information for GSPT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GSPT2 Gene

Genomics for GSPT2 Gene

GeneHancer (GH) Regulatory Elements for GSPT2 Gene

Promoters and enhancers for GSPT2 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
GH0XJ051742 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas 500.7 +0.9 937 3.8 ZBTB40 POLR2A ZNF341 NFRKB ZBTB17 CBFB MXI1 GABPA YY1 POLR2G GSPT2 lnc-CENPVL2-3 NUDT11
GH0XJ051822 Enhancer 0.4 Ensembl 12 +81.2 81216 6.4 NANOG ATF4 CEBPB NUDT11 RNU6-504P GSPT2 NUDT10 MAGED1 LOC100631242
GH0XJ051772 Enhancer 0.2 Ensembl 13.5 +28.8 28815 0.4 GSPT2 MAGED1 piR-49097-113 piR-41405-173
GH0XJ051771 Enhancer 0.2 Ensembl 13.5 +28.2 28216 0.4 GSPT2 MAGED1 piR-49097-113 piR-41405-173
GH0XJ051775 Enhancer 0.2 Ensembl 12.6 +33.2 33216 1.2 piR-49097-113 GSPT2 NUDT11 piR-41405-173
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GSPT2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GSPT2

Top Transcription factor binding sites by QIAGEN in the GSPT2 gene promoter:
  • AML1a
  • C/EBPbeta
  • COMP1
  • HTF
  • Pax-4a
  • POU3F1
  • RORalpha2
  • SRF
  • SRF (504 AA)
  • XBP-1

Genomic Locations for GSPT2 Gene

Genomic Locations for GSPT2 Gene
chrX:51,743,385-51,746,232
(GRCh38/hg38)
Size:
2,848 bases
Orientation:
Plus strand
chrX:51,486,481-51,489,328
(GRCh37/hg19)
Size:
2,848 bases
Orientation:
Plus strand

Genomic View for GSPT2 Gene

Genes around GSPT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GSPT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GSPT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GSPT2 Gene

Proteins for GSPT2 Gene

  • Protein details for GSPT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYD1-ERF3B_HUMAN
    Recommended name:
    Eukaryotic peptide chain release factor GTP-binding subunit ERF3B
    Protein Accession:
    Q8IYD1
    Secondary Accessions:
    • Q9H909
    • Q9NVY0
    • Q9NY44

    Protein attributes for GSPT2 Gene

    Size:
    628 amino acids
    Molecular mass:
    68883 Da
    Quaternary structure:
    • Interacts with ETF1 (By similarity). Component of the transient SURF (SMG1-UPF1-eRF1-eRF3) complex. Interacts with UPF1 and PABPC1.

    Three dimensional structures from OCA and Proteopedia for GSPT2 Gene

neXtProt entry for GSPT2 Gene

Post-translational modifications for GSPT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GSPT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for GSPT2 Gene

Domains & Families for GSPT2 Gene

Gene Families for GSPT2 Gene

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

Protein Domains for GSPT2 Gene

Blocks:
  • Ataxin-2, C-terminal
  • Elongation factor Tu, C-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GSPT2 Gene

GenScript: Design optimal peptide antigens:
  • G1 to S phase transition protein 2 homolog (ERF3B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYD1

UniProtKB/Swiss-Prot:

ERF3B_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. ERF3 subfamily.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. ERF3 subfamily.
genes like me logo Genes that share domains with GSPT2: view

Function for GSPT2 Gene

Molecular function for GSPT2 Gene

UniProtKB/Swiss-Prot Function:
Involved in translation termination in response to the termination codons UAA, UAG and UGA. May play a role as a potent stimulator of the release factor activity of ETF1. Exhibits GTPase activity, which is ribosome- and ETF1-dependent. May play a role in cell cycle progression. Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons.
GENATLAS Biochemistry:
peptide chain release factor 3b,interacting and stimulating ERF1,controlled stop-codon directed release

Gene Ontology (GO) - Molecular Function for GSPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003747 translation release factor activity IBA 21873635
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IPI 9712840
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with GSPT2: view
genes like me logo Genes that share phenotypes with GSPT2: view

Animal Models for GSPT2 Gene

MGI Knock Outs for GSPT2:
  • Gspt2 Gspt2<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for GSPT2 Gene

miRTarBase miRNAs that target GSPT2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GSPT2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GSPT2 Gene

Localization for GSPT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GSPT2 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 GSPT2 gene
Compartment Confidence
cytosol 5
nucleus 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GSPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0018444 translation release factor complex IBA 21873635
genes like me logo Genes that share ontologies with GSPT2: view

Pathways & Interactions for GSPT2 Gene

genes like me logo Genes that share pathways with GSPT2: view

Gene Ontology (GO) - Biological Process for GSPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0002184 cytoplasmic translational termination IBA 21873635
GO:0006412 translation IBA 21873635
GO:0007049 cell cycle IEA --
genes like me logo Genes that share ontologies with GSPT2: view

No data available for SIGNOR curated interactions for GSPT2 Gene

Drugs & Compounds for GSPT2 Gene

(1) Drugs for GSPT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with GSPT2: view

Transcripts for GSPT2 Gene

mRNA/cDNA for GSPT2 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
1 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 GSPT2

Alternative Splicing Database (ASD) splice patterns (SP) for GSPT2 Gene

No ASD Table

Relevant External Links for GSPT2 Gene

GeneLoc Exon Structure for
GSPT2

Expression for GSPT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GSPT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GSPT2 Gene

This gene is overexpressed in Heart (60.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GSPT2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GSPT2

SOURCE GeneReport for Unigene cluster for GSPT2 Gene:

Hs.59523

mRNA Expression by UniProt/SwissProt for GSPT2 Gene:

Q8IYD1-ERF3B_HUMAN
Tissue specificity: Highly expressed in IUCC stage II colorectal cancer (CRC).

Evidence on tissue expression from TISSUES for GSPT2 Gene

  • Nervous system(4.6)
genes like me logo Genes that share expression patterns with GSPT2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GSPT2 Gene

Orthologs for GSPT2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GSPT2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GSPT2 31
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 95 (a)
ManyToMany
-- 31
  • 68 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia GSPT2 30
  • 92.37 (n)
dog
(Canis familiaris)
Mammalia LOC480921 30
  • 92.03 (n)
rat
(Rattus norvegicus)
Mammalia Gspt2 30
  • 89.07 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 89 (a)
ManyToMany
-- 31
  • 82 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Gspt2 17 31 30
  • 88.22 (n)
chicken
(Gallus gallus)
Aves GSPT1 31
  • 85 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 89 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii gspt1 31
  • 79 (a)
ManyToMany
gspt1l 31
  • 77 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12290 30
fruit fly
(Drosophila melanogaster)
Insecta Elf 31 32
  • 56 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea erfa-3 31 30
  • 59.61 (n)
OneToMany
H19N07.1 32
  • 58 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUP35 31
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9703 31
  • 65 (a)
OneToMany
Species where no ortholog for GSPT2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • rice (Oryza sativa)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GSPT2 Gene

ENSEMBL:
Gene Tree for GSPT2 (if available)
TreeFam:
Gene Tree for GSPT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GSPT2: view image

Paralogs for GSPT2 Gene

(5) SIMAP similar genes for GSPT2 Gene using alignment to 1 proteins:

  • ERF3B_HUMAN
genes like me logo Genes that share paralogs with GSPT2: view

Variants for GSPT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GSPT2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
769180 Benign: not provided 51,744,049(+) G/A SYNONYMOUS_VARIANT
790238 Benign: not provided 51,743,694(+) C/T MISSENSE_VARIANT
rs1057519440 Pathogenic: Autistic disorder of childhood onset; Delayed speech and language development; Seizures 51,744,647(+) G/A MISSENSE_VARIANT
rs398124340 Uncertain Significance: not provided 51,743,942(+) C/CG FRAMESHIFT_VARIANT
rs797044501 Uncertain Significance: not provided 51,744,784(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for GSPT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for GSPT2 Gene

Variant ID Type Subtype PubMed ID
esv3350872 OTHER inversion 20981092
nsv7444 OTHER inversion 18451855

Variation tolerance for GSPT2 Gene

Residual Variation Intolerance Score: 6.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GSPT2 Gene

Human Gene Mutation Database (HGMD)
GSPT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GSPT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GSPT2 Gene

Disorders for GSPT2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for GSPT2 Gene - From: ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
autism
  • autistic disorder
visual epilepsy
  • epilepsy, visual
leukodystrophy, hypomyelinating, 11
  • hld11
syndromic x-linked intellectual disability turner type
  • mental retardation, x-linked, syndromic, turner type
syndromic x-linked intellectual disability
  • x-linked syndromic intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search GSPT2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GSPT2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GSPT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GSPT2 Gene

Publications for GSPT2 Gene

  1. Involvement of human release factors eRF3a and eRF3b in translation termination and regulation of the termination complex formation. (PMID: 15987998) Chauvin C … Jean-Jean O (Molecular and cellular biology 2005) 3 4 23 54
  2. Assignment of the human peptide chain release factor 3 (GSPT2) to Xp11.23-->p11.21 and of the distal marker DXS1039 by radiation hybrid mapping. (PMID: 10575220) Hansen LL … Justesen J (Cytogenetics and cell genetics 1999) 2 3 23 54
  3. Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer. (PMID: 18264098) Gudmundsson J … Stefansson K (Nature genetics 2008) 3 41 54
  4. A competition between stimulators and antagonists of Upf complex recruitment governs human nonsense-mediated mRNA decay. (PMID: 18447585) Singh G … Lykke-Andersen J (PLoS biology 2008) 3 4 54
  5. Human eukaryotic release factor 3a depletion causes cell cycle arrest at G1 phase through inhibition of the mTOR pathway. (PMID: 17562865) Chauvin C … Jean-Jean O (Molecular and cellular biology 2007) 4 23 54

Products for GSPT2 Gene

Sources for GSPT2 Gene