GSPT2 (G1 to S phase transition 2)

Gene

• Entrez ID: 23708
• Gene name: G1 to S phase transition 2
• Gene symbol: GSPT2
• Synonyms: ERF3B, GST2
• Chromosome: X
• Chromosome location: Xp11.22
• Summary: 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 als

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1057519440	G>A	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029919	hsa-miR-26b-5p	Microarray	19088304
MIRT1036326	hsa-miR-128	CLIP-seq
MIRT1036327	hsa-miR-129-5p	CLIP-seq
MIRT1036328	hsa-miR-144	CLIP-seq
MIRT1036329	hsa-miR-27a	CLIP-seq
MIRT1036330	hsa-miR-27b	CLIP-seq
MIRT1036331	hsa-miR-4279	CLIP-seq
MIRT1036332	hsa-miR-626	CLIP-seq
MIRT1036326	hsa-miR-128	CLIP-seq
MIRT1036328	hsa-miR-144	CLIP-seq
MIRT1036329	hsa-miR-27a	CLIP-seq
MIRT1036330	hsa-miR-27b	CLIP-seq
MIRT1036331	hsa-miR-4279	CLIP-seq
MIRT1036332	hsa-miR-626	CLIP-seq
MIRT2543358	hsa-miR-1183	CLIP-seq
MIRT2543359	hsa-miR-1252	CLIP-seq
MIRT2543360	hsa-miR-1293	CLIP-seq
MIRT1036327	hsa-miR-129-5p	CLIP-seq
MIRT2543361	hsa-miR-3125	CLIP-seq
MIRT2543362	hsa-miR-3145-3p	CLIP-seq
MIRT2543363	hsa-miR-323-3p	CLIP-seq
MIRT2543364	hsa-miR-323-5p	CLIP-seq
MIRT2543365	hsa-miR-3646	CLIP-seq
MIRT2543366	hsa-miR-3662	CLIP-seq
MIRT2543367	hsa-miR-3916	CLIP-seq
MIRT2543368	hsa-miR-4275	CLIP-seq
MIRT2543369	hsa-miR-4476	CLIP-seq
MIRT2543370	hsa-miR-4483	CLIP-seq
MIRT2543371	hsa-miR-4496	CLIP-seq
MIRT2543372	hsa-miR-450b-5p	CLIP-seq
MIRT2543373	hsa-miR-4517	CLIP-seq
MIRT2543374	hsa-miR-4533	CLIP-seq
MIRT2543375	hsa-miR-4693-5p	CLIP-seq
MIRT2543376	hsa-miR-4709-3p	CLIP-seq
MIRT2543377	hsa-miR-4753-3p	CLIP-seq
MIRT2543378	hsa-miR-4760-3p	CLIP-seq
MIRT2543379	hsa-miR-4768-5p	CLIP-seq
MIRT2543380	hsa-miR-4775	CLIP-seq
MIRT2543381	hsa-miR-4797-5p	CLIP-seq
MIRT2543382	hsa-miR-4799-5p	CLIP-seq
MIRT2543383	hsa-miR-499-3p	CLIP-seq
MIRT2543384	hsa-miR-499a-3p	CLIP-seq
MIRT2543385	hsa-miR-513a-3p	CLIP-seq
MIRT2543386	hsa-miR-518a-5p	CLIP-seq
MIRT2543387	hsa-miR-527	CLIP-seq
MIRT2543388	hsa-miR-548a-5p	CLIP-seq
MIRT2543389	hsa-miR-548ab	CLIP-seq
MIRT2543390	hsa-miR-548ak	CLIP-seq
MIRT2543391	hsa-miR-548b-5p	CLIP-seq
MIRT2543392	hsa-miR-548c-5p	CLIP-seq
MIRT2543393	hsa-miR-548d-5p	CLIP-seq
MIRT2543394	hsa-miR-548h	CLIP-seq
MIRT2543395	hsa-miR-548i	CLIP-seq
MIRT2543396	hsa-miR-548j	CLIP-seq
MIRT2543397	hsa-miR-548k	CLIP-seq
MIRT2543398	hsa-miR-548l	CLIP-seq
MIRT2543399	hsa-miR-548w	CLIP-seq
MIRT2543400	hsa-miR-548y	CLIP-seq
MIRT2543401	hsa-miR-559	CLIP-seq
MIRT2543402	hsa-miR-590-3p	CLIP-seq
MIRT2543403	hsa-miR-601	CLIP-seq
MIRT2543404	hsa-miR-603	CLIP-seq
MIRT2543405	hsa-miR-642b	CLIP-seq
MIRT2543406	hsa-miR-759	CLIP-seq
MIRT2543359	hsa-miR-1252	CLIP-seq
MIRT2543360	hsa-miR-1293	CLIP-seq
MIRT1036327	hsa-miR-129-5p	CLIP-seq
MIRT2543361	hsa-miR-3125	CLIP-seq
MIRT2543362	hsa-miR-3145-3p	CLIP-seq
MIRT2682118	hsa-miR-3185	CLIP-seq
MIRT2543364	hsa-miR-323-5p	CLIP-seq
MIRT2543365	hsa-miR-3646	CLIP-seq
MIRT2543366	hsa-miR-3662	CLIP-seq
MIRT2543367	hsa-miR-3916	CLIP-seq
MIRT2543369	hsa-miR-4476	CLIP-seq
MIRT2543370	hsa-miR-4483	CLIP-seq
MIRT2543371	hsa-miR-4496	CLIP-seq
MIRT2543372	hsa-miR-450b-5p	CLIP-seq
MIRT2543373	hsa-miR-4517	CLIP-seq
MIRT2543374	hsa-miR-4533	CLIP-seq
MIRT2543376	hsa-miR-4709-3p	CLIP-seq
MIRT2543377	hsa-miR-4753-3p	CLIP-seq
MIRT2543379	hsa-miR-4768-5p	CLIP-seq
MIRT2543381	hsa-miR-4797-5p	CLIP-seq
MIRT2543382	hsa-miR-4799-5p	CLIP-seq
MIRT2543385	hsa-miR-513a-3p	CLIP-seq
MIRT2543386	hsa-miR-518a-5p	CLIP-seq
MIRT2543387	hsa-miR-527	CLIP-seq
MIRT2543403	hsa-miR-601	CLIP-seq
MIRT2543404	hsa-miR-603	CLIP-seq
MIRT2543405	hsa-miR-642b	CLIP-seq
MIRT2543406	hsa-miR-759	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS
GO:0002184	Process	Cytoplasmic translational termination	IBA	21873635
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003747	Function	Translation release factor activity	IBA	21873635
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	9712840, 14685257, 18447585, 23340509, 28514442
GO:0005525	Function	GTP binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IBA	21873635
GO:0007049	Process	Cell cycle	IEA
GO:0018444	Component	Translation release factor complex	IBA	21873635

Other IDs

• MIM: 300418
• HGNC: 4622
• e!Ensembl: ENSG00000189369

Protein

• UniProt ID: Q8IYD1
• Protein name: Eukaryotic peptide chain release factor GTP-binding subunit ERF3B (Eukaryotic peptide chain release factor subunit 3b) (eRF3b) (EC 3.6.5.-) (G1 to S phase transition protein 2 homolog)
• Protein function: GTPase component of the eRF1-eRF3-GTP ternary complex, a ternary complex that mediates translation termination in response to the termination codons UAA, UAG and UGA (PubMed:11524954, PubMed:15987998, PubMed:17562865). GSPT2/ERF3B mediates ETF1/
• PDB: 3KUJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07145	PAM2	47 → 64	Ataxin-2 C-terminal region	Motif
  PF00009	GTP_EFTU	201 → 478	Elongation factor Tu GTP binding domain	Domain
  PF03143	GTP_EFTU_D3	516 → 624	Elongation factor Tu C-terminal domain	Domain

• Sequence:

  MDSGSSSSDSAPDCWDQVDMESPGSAPSGDGVSSAVAEAQREPLSSAFSRKLNVNAKPFV
  PNVHAAEFVPSFLRGPTQPPTLPAGSGSNDETCTGAGYPQGKRMGRGAPVEPSREEPLVS
  LEGSNSAVTMELSEPVVENGEVEMALEESWEHSKEVSEAEPGGGSSGDSGPPEESGQEMM
  EEKEEIRKSKSVIVPSGAPKKEHVNVVFIGHVDAGKSTIGGQIMFLTGMVDKRTLEKYER
  EAKEKNRETWYLSWALDTNQEERDKGKTVEVGRAYFETERKHFTILDAPGHKSFVPNMIG
  GASQADLAVLVISARKGEFETGFEKGGQTREHAMLAKTAGVKHLIVLINKMDDPTVNWSI
  ERYEECKEKLVPFLKKVGFSPKKDIHFMPCSGLTGANIKEQSDFCPWYTGLPFIPYLDNL
  PNFNRSIDGPIRLPIVDKYKDMGTVVLGKLESGSIFKGQQLVMMPNKHNVEVLGILSDDT
  ETDFVAPGENLKIRLKGIEEEEILPGFILCDPSNLCHSGRTFDVQIVIIEHKSIICPGYN
  AVLHIHTCIEEVEITALISLVDKKSGEKSKTRPRFVKQDQVCIARLRTAGTICLETFKDF
  PQMGRFTLRDEGKTIAIGKVLKLVPEKD

• Sequence length: 628

Pathways

KEGG:

mRNA surveillance pathway

Reactome:

Eukaryotic Translation Termination
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634