Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23708
Gene name	G1 to S phase transition 2
Gene symbol	GSPT2
Synonyms (NCBI Gene)	ERF3BGST2
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

Show/Hide all (1)

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

Show/Hide all (92)

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

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003747	Function	Translation release factor activity	IBA
GO:0003747	Function	Translation release factor activity	IDA	15987998
GO:0003747	Function	Translation release factor activity	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IDA	15987998
GO:0003924	Function	GTPase activity	IEA
GO:0005515	Function	Protein binding	IPI	9712840, 14685257, 18447585, 23340509, 28514442, 33961781, 35044719
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006412	Process	Translation	IBA
GO:0006412	Process	Translation	IEA
GO:0006415	Process	Translational termination	IDA	15987998
GO:0016787	Function	Hydrolase activity	IEA
GO:0018444	Component	Translation release factor complex	IBA

MIM	HGNC	e!Ensembl
300418	4622	ENSG00000189369

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

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in IUCC stage II colorectal cancer (CRC). {ECO:0000269|PubMed:16721809}.

Sequence

MDSGSSSSDSAPDCWDQVDMESPGSAPSGDGVSSAVAEAQREPLSSAFSRKLNVNAKPFV
PNVHAAEFVPSFLRGPTQPPTLPAGSGSNDETCTGAGYPQGKRMGRGAPVEPSREEPLVS
LEGSNSAVTMELSEPVVENGEVEMALEESWEHSKEVSEAEPGGGSSGDSGPPEESGQEMM
EEKEEIRKSKSVIVPSGAPKKEHVNVVFIGHVDAGKSTIGGQIMFLTGMVDKRTLEKYER
EAKEKNRETWYLSWALDTNQEERDKGKTVEVGRAYFETERKHFTILDAPGHKSFVPNMIG
GASQADLAVLVISARKGEFETGFEKGGQTREHAMLAKTAGVKHLIVLINKMDDPTVNWSI
ERYEECKEKLVPFLKKVGFSPKKDIHFMPCSGLTGANIKEQSDFCPWYTGLPFIPYLDNL
PNFNRSIDGPIRLPIVDKYKDMGTVVLGKLESGSIFKGQQLVMMPNKHNVEVLGILSDDT
ETDFVAPGENLKIRLKGIEEEEILPGFILCDPSNLCHSGRTFDVQIVIIEHKSIICPGYN
AVLHIHTCIEEVEITALISLVDKKSGEKSKTRPRFVKQDQVCIARLRTAGTICLETFKDF
PQMGRFTLRDEGKTIAIGKVLKLVPEKD

Sequence length

628

Interactions

View interactions

	KEGG		Reactome
	mRNA surveillance pathway		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)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism	Pathogenic	rs1057519440	RCV000416451	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Delayed speech and language development	Pathogenic	rs1057519440	RCV000416451	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Pathogenic	rs1057519440	RCV000416451	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GSPT2-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autistic Disorder	Autism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30272252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24466059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28414775	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30272252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28414775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	30867251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	24466059	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20655035, 28414775	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	28414775		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30272252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29231991		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29231991		★★★★★ ★☆☆☆☆ Found in Text Mining only

GSPT2 (G1 to S phase transition 2)