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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: GTPBP2 (NCBI Gene ID:54676)

Gene Summary

Gene Summary

Gene Information	Gene Name: GTPBP2
	Gene ID: 54676
	Gene Symbol	GTPBP2
	Gene ID	54676
	Gene Name	GTP binding protein 2
	Synonyms	JABELS
	Cytomap	6p21.1
	Type of Gene	protein-coding
	Description	GTP-binding protein 2
	Modification date	20200320
	UniProtAcc	Q9BX10

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0006417	Regulation of translation
GO:0008135	Translation factor activity, RNA binding
GO:0006414	Translational elongation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

Inferred gene age of translation factor.

Gene	Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
GTPBP2	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'GTPBP2[title] AND translation [title] AND human.'

Gene	Title	PMID
GTPBP2	.	.

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Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	ORF
ENST00000307126	43590369	43590541	Frame-shift
ENST00000307126	43592624	43592799	Frame-shift

Exon skipping position in the amino acid sequence.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

Len(transcript seq)

Exon skip start (mRNA)

Exon Skip end (mRNA)

Len(amino acid seq)

Exon skip start (AA)

Exon Skip end (AA)

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc

Exon skip start (AA)

Exon Skip end (AA)

Function feature start (AA)

Function feature end (AA)

Functional feature type

Functional feature desc.

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
HNSC	GTPBP2	-1.53627803072923	0.0265030336049676
LIHC	GTPBP2	-1.41497815140044	1.03660595360911e-06
KIRC	GTPBP2	-1.3476028386786	1.44148329893084e-11
KIRP	GTPBP2	-2.13758174831216	6.37955963611603e-08

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type

Gene

miRNA

TargetScan binding score (Context++ score percentile)

Coefficient

Pvalue

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type

Gene

Coefficient

Pvalue

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with GTPBP2 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
CHOL	IUPHAR	GTPBP2	ABCC10	0.896171472	8.98E-17
THYM	Cell metabolism gene	GTPBP2	NFYA	0.800419297	1.93E-28
THYM	Cell metabolism gene	GTPBP2	DCK	0.801601039	1.40E-28
THYM	Epifactor	GTPBP2	HMGN4	0.831027405	2.35E-32
THYM	TF	GTPBP2	NFYA	0.800419297	1.93E-28
THYM	TF	GTPBP2	ZBTB2	0.815521903	2.79E-30
THYM	TF	GTPBP2	ZKSCAN4	0.818748456	1.07E-30
UCS	Cell metabolism gene	GTPBP2	NFYA	0.800419297	1.93E-28
UCS	Cell metabolism gene	GTPBP2	DCK	0.801601039	1.40E-28
UCS	Epifactor	GTPBP2	HMGN4	0.831027405	2.35E-32
UCS	TF	GTPBP2	NFYA	0.800419297	1.93E-28
UCS	TF	GTPBP2	ZBTB2	0.815521903	2.79E-30
UCS	TF	GTPBP2	ZKSCAN4	0.818748456	1.07E-30

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
BLCA	GTPBP2	LMF1	-1.01423777162108	0.000644683837890625
PRAD	GTPBP2	REPS1	1.60056286392539	0.000716413334112081
BLCA	GTPBP2	GALNT2	-3.64046800438208	0.000965118408203125
COAD	GTPBP2	GALNT2	-2.59898345741163	0.00322914123535157
COAD	GTPBP2	DCAF17	-2.65458454517734	0.0381683111190796
KIRC	GTPBP2	GALNT2	-2.09650742400863	1.19255796894673e-07
THCA	GTPBP2	GCC1	1.83289969742393	1.4955103645527e-06
KIRC	GTPBP2	AP4M1	-2.78729174318103	5.0828992913156e-11
KICH	GTPBP2	LMF1	3.43472596618245	6.55651092529297e-06
LIHC	GTPBP2	AP4M1	-1.01080418639238	6.80736010554701e-08

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with GTPBP2

IRF5, KDM1A, PRMT5, PRMT6, SUV39H1, DCP2, IFI30, HNRNPU, POLH, RPL10, RAB11A, Junb, Rpl35, Mus81, Rrbp1, GRAMD1B, RNASE3, UBE3D, PMEL, MUC20, CHRM3, PROSER2, IGFBP1, PLEKHO1, IQCF1, PSMB1, PICK1, TXN2, SNRNP70, GPN3, NXF1, GTPBP2, PLEKHF2, CLK2, CUL9, CUL7, PLEKHA4, BRPF3, TRIM66, FASN, LDLR, DDX58, DNAJC12, ZNF467, GPIHBP1, RBMS2, ZNF48, LMNB2, OC90, RPL4, IGFL3, HNRNPCL2,

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Mutations

Clinically associated variants from ClinVar.

Gene

Chr

Position

RefSeq

VarSeq

RefSeeq

VarType

Pathogenic

Disease

VarInfo

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
GTPBP2	BLCA	chr6	43589395	43589395	G	T	Missense_Mutation		6
GTPBP2	KIRC	chr6	43592392	43592392	C	T	Missense_Mutation	p.D319N	5
GTPBP2	BLCA	chr6	43593965	43593965	C	G	Missense_Mutation	p.E132D	4
GTPBP2	LIHC	chr6	43596730	43596730	G	-	Frame_Shift_Del	p.P57fs	4
GTPBP2	LIHC	chr6	43590408	43590408	G	A	Silent		4
GTPBP2	ACC	chr6	43592287	43592287	C	T	Missense_Mutation	p.D354N	3
GTPBP2	BRCA	chr6	43593250	43593250	C	G	Missense_Mutation	p.K185N	3
GTPBP2	ESCA	chr6	43593283	43593283	A	G	Silent		2
GTPBP2	KIRC	chr6	43592645	43592645	A	T	Missense_Mutation	p.V287D	2
GTPBP2	STAD	chr6	43592356	43592356	G	A	Missense_Mutation		2
GTPBP2	BLCA	chr6	43592647	43592647	G	A	Silent	p.L286L	2
GTPBP2	UCEC	chr6	43589779	43589779	G	A	Silent	p.R100C	2
GTPBP2	UCEC	chr6	43590428	43590428	C	T	Missense_Mutation	p.R470Q	2
GTPBP2	SKCM	chr6	43592649	43592649	G	A	Missense_Mutation	p.L286F	2
GTPBP2	STAD	chr6	43592356	43592356	G	A	Missense_Mutation	p.R331C	2
GTPBP2	ESCA	chr6	43593283	43593283	A	G	Silent	p.R174R	2
GTPBP2	CESC	chr6	43591721	43591721	G	A	Silent		2
GTPBP2	UCEC	chr6	43592647	43592647	G	A	Silent	p.S252L	2
GTPBP2	ESCA	chr6	43588291	43588292	TA	-	RNA	NULL	2
GTPBP2	SKCM	chr6	43590398	43590398	C	T	Missense_Mutation	p.G480E	2
GTPBP2	STAD	chr6	43592340	43592340	A	G	Missense_Mutation	p.V336A	2
GTPBP2	CESC	chr6	43591477	43591477	G	C	Missense_Mutation		2
GTPBP2	UCEC	chr6	43594046	43594046	C	T	Silent	p.G71E	2
GTPBP2	SKCM	chr6	43590399	43590399	C	T	Missense_Mutation	p.G480R	2
GTPBP2	STAD	chr6	43589437	43589437	G	A	Missense_Mutation	p.R575W	2
GTPBP2	BLCA	chr6	43593155	43593155	G	A	Missense_Mutation	p.S217F	2
GTPBP2	CESC	chr6	43592282	43592282	G	A	Silent		2
GTPBP2	LUAD	chr6	43592282	43592282	G	A	Silent	p.A355A	2
GTPBP2	UCEC	chr6	43594060	43594060	C	T	Splice_Site	e1+1	2
GTPBP2	SKCM	chr6	43589866	43589866	G	A	Silent	p.I502I	2
GTPBP2	BLCA	chr6	43591732	43591732	G	T	Missense_Mutation	p.L392M	2
GTPBP2	CESC	chr6	43591477	43591477	G	C	Missense_Mutation	p.S431C	2
GTPBP2	HNSC	chr6	43590532	43590532	G	A	Silent	p.C435C	2
GTPBP2	ESCA	chr6	43589849	43589849	G	T	Missense_Mutation	p.A508E	2
GTPBP2	BLCA	chr6	43593257	43593257	G	C	Missense_Mutation		1
GTPBP2	SKCM	chr6	43591732	43591732	G	A	Silent	p.L392L	1
GTPBP2	BLCA	chr6	43589377	43589377	C	T	Missense_Mutation	p.E595K	1
GTPBP2	LIHC	chr6	43591796	43591796	G	-	Frame_Shift_Del	p.P370fs	1
GTPBP2	UCEC	chr6	43594046	43594046	C	T	Silent	p.G105G	1
GTPBP2	CESC	chr6	43588571	43588571	G	C	RNA	NULL	1
GTPBP2	READ	chr6	43593130	43593130	G	A	Silent	p.F225F	1
GTPBP2	BLCA	chr6	43589377	43589377	C	T	Missense_Mutation		1
GTPBP2	ESCA	chr6	43596716	43596717	-	-	Frame_Shift_Ins		1
GTPBP2	SKCM	chr6	43596721	43596721	G	A	Missense_Mutation	p.P60L	1
GTPBP2	BLCA	chr6	43592644	43592644	G	A	Silent	p.V287V	1
GTPBP2	KIRC	chr6	43592732	43592732	A	T	Missense_Mutation	p.F258Y	1
GTPBP2	LIHC	chr6	43596786	43596786	C	-	Frame_Shift_Del	p.G38fs	1
GTPBP2	UCEC	chr6	43594060	43594060	C	T	Missense_Mutation	p.V101I	1
GTPBP2	CESC	chr6	43591721	43591721	G	A	Silent	p.L395	1
GTPBP2	SARC	chr6	43592462	43592462	G	T	Silent		1
GTPBP2	BLCA	chr6	43592644	43592644	G	A	Silent		1
GTPBP2	ESCA	chr6	43596716	43596717	-	G	Frame_Shift_Ins	p.E62fs	1
GTPBP2	KIRP	chr6	43593600	43593600	C	A	Missense_Mutation	p.V134F	1
GTPBP2	LIHC	chr6	43589488	43589488	G	-	Frame_Shift_Del	p.R558fs	1
GTPBP2	COAD	chr6	43589787	43589787	C	T	Missense_Mutation	p.V529M	1
GTPBP2	SARC	chr6	43594141	43594141	G	T	Missense_Mutation		1
GTPBP2	STAD	chr6	43593576	43593576	G	A	Nonsense_Mutation	p.R142X	1
GTPBP2	BLCA	chr6	43592647	43592647	G	A	Silent		1
GTPBP2	ESCA	chr6	43593129	43593129	C	G	Missense_Mutation	p.E226Q	1
GTPBP2	KIRP	chr6	43589884	43589884	C	A	Silent		1
GTPBP2	LIHC	chr6	43589783	43589783	C	-	Frame_Shift_Del	p.G530fs	1
GTPBP2	BLCA	chr6	43596784	43596784	G	A	Missense_Mutation		1
GTPBP2	COAD	chr6	43596717	43596717	G	-	Frame_Shift_Del	p.E62fs	1
GTPBP2	BLCA	chr6	43596784	43596784	G	A	Missense_Mutation	p.P39L	1
GTPBP2	LGG	chr6	43590374	43590374	C	T	Missense_Mutation	p.R488H	1
GTPBP2	LUAD	chr6	43593175	43593175	G	A	Silent	p.R210R	1
GTPBP2	BLCA	chr6	43593965	43593965	C	G	Missense_Mutation		1
GTPBP2	ESCA	chr6	43596716	43596717	-	G	Frame_Shift_Ins	p.G62fs	1
GTPBP2	LGG	chr6	43589768	43589768	G	A	Missense_Mutation	p.T535M	1
GTPBP2	LUAD	chr6	43589437	43589437	G	T	Silent	p.R575R	1
GTPBP2	BLCA	chr6	43593155	43593155	G	A	Missense_Mutation		1
GTPBP2	ESCA	chr6	43588627	43588627	T	C	RNA	NULL	1
GTPBP2	LIHC	chr6	43594011	43594011	T	C	Missense_Mutation		1
GTPBP2	ESCA	chr6	43589723	43589723	G	A	Missense_Mutation		1
GTPBP2	LGG	chr6	43589883	43589883	C	T	Missense_Mutation	p.E497K	1
GTPBP2	BLCA	chr6	43591732	43591732	G	T	Missense_Mutation		1
GTPBP2	ESCA	chr6	43588707	43588707	G	A	RNA	NULL	1
GTPBP2	LIHC	chr6	43593198	43593198	G	A	Missense_Mutation	p.R203W	1
GTPBP2	STAD	chr6	43589374	43589376	CTT	-	In_Frame_Del	p.595_596del	1
GTPBP2	GBM	chr6	43592727	43592727	C	T	Missense_Mutation		1
GTPBP2	CESC	chr6	43591721	43591721	G	A	Silent	p.L395L	1
GTPBP2	LGG	chr6	43589883	43589883	C	T	Missense_Mutation		1
GTPBP2	LUAD	chr6	43591806	43591806	C	T	Splice_Site		1
GTPBP2	BLCA	chr6	43589890	43589890	C	T	Silent		1
GTPBP2	ESCA	chr6	43594099	43594099	G	A	Nonsense_Mutation	p.Q88*	1
GTPBP2	SKCM	chr6	43589882	43589882	T	G	Missense_Mutation	p.E497A	1
GTPBP2	LIHC	chr6	43592642	43592642	C	A	Missense_Mutation	p.S288I	1
GTPBP2	STAD	chr6	43593576	43593576	G	A	Nonsense_Mutation	p.R142*	1
GTPBP2	BLCA	chr6	43589890	43589890	C	T	Silent	p.V494V	1
GTPBP2	HNSC	chr6	43588006	43588006	A	-	RNA		1
GTPBP2	LGG	chr6	43590374	43590374	C	T	Missense_Mutation		1
GTPBP2	LUSC	chr6	43592737	43592737	G	A	Silent	p.I256I	1
GTPBP2	ESCA	chr6	43596716	43596717	-	G	Frame_Shift_Ins	p.E61fs	1
GTPBP2	SKCM	chr6	43593277	43593277	G	A	Silent	p.A176A	1
GTPBP2	LIHC	chr6	43593599	43593600	-	C	Frame_Shift_Ins	p.W134fs	1
GTPBP2	STAD	chr6	43589374	43589376	CTT	-	In_Frame_Del	p.595_596EA>D	1
GTPBP2	BLCA	chr6	43594085	43594085	C	T	Silent	p.R92R	1
GTPBP2	CESC	chr6	43592414	43592414	G	G	Missense_Mutation		1
GTPBP2	LIHC	chr6	43594137	43594137	A	G	Missense_Mutation		1
GTPBP2	PAAD	chr6	43593543	43593543	G	A	Missense_Mutation	p.P153S	1
GTPBP2	BLCA	chr6	43594085	43594085	C	T	Silent		1
GTPBP2	SKCM	chr6	43592393	43592393	G	A	Silent	p.I318I	1
GTPBP2	STAD	chr6	43593576	43593576	G	A	Nonsense_Mutation		1
GTPBP2	BLCA	chr6	43593257	43593257	G	C	Missense_Mutation	p.S183C	1
GTPBP2	CESC	chr6	43596854	43596854	C	A	Nonsense_Mutation	p.G16*	1
GTPBP2	PCPG	chr6	43589788	43589788	G	A	Silent		1

Copy number variation (CNV) of GTPBP2
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across GTPBP2
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
83836	N/A	BQ327509	GTPBP2	chr6	43592752	+	GTPBP2	chr6	43588769	+
35311	BRCA	TCGA-A8-A07J-01A	GTPBP2	chr6	43589740	-	HIST1H2BJ	chr6	27094241	-
67661	STAD	TCGA-BR-8486	GTPBP2	chr6	43592246	-	POLH	chr6	43571628	+
67661	STAD	TCGA-BR-8486-01A	GTPBP2	chr6	43592247	-	POLH	chr6	43571629	+
35311	Non-Cancer	TCGA-BR-8060-11A	GTPBP2	chr6	43593962	-	PRICKLE4	chr6	41751868	+
98036	STAD	TCGA-BR-8486-01A	GTPBP2	chr6	43590370	-	RSPH9	chr6	43638526	+
98036	STAD	TCGA-BR-8486-01A	GTPBP2	chr6	43591474	-	RSPH9	chr6	43638526	+
100602	SKCM	TCGA-EE-A2MR-06A	GTPBP2	chr6	43593493	-	USP49	chr6	41766667	-
102169	OV	TCGA-29-1778	GTPBP2	chr6	43592246	-	VEGFA	chr6	43752277	+
102169	OV	TCGA-29-1778-01A	GTPBP2	chr6	43592247	-	VEGFA	chr6	43752278	+
83836	HNSC	TCGA-MT-A67A	KRT14	chr17	39740509	-	GTPBP2	chr6	43592994	-
83841	N/A	DB445779	SMAGP	chr12	51663905	-	GTPBP2	chr6	43596799	-

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
GBM	GTPBP2	0.0129410726721108	0.36
KIRC	GTPBP2	0.0254032347859674	0.69
SKCM	GTPBP2	0.028852408270065	0.75
BLCA	GTPBP2	0.0408102833015935	1

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
STAD	GTPBP2	0.0022726718988551	0.075
LUAD	GTPBP2	0.0361398809521637	1
BRCA	GTPBP2	0.0455381012552555	1
UVM	GTPBP2	0.0106888618474183	0.34
OV	GTPBP2	0.0194988187515671	0.6
PCPG	GTPBP2	0.0265352787733013	0.8
THYM	GTPBP2	0.029265026131154	0.85

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Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C0008370	Cholestasis	1	CTD_human
C0557874	Global developmental delay	1	GENOMICS_ENGLAND
C4693848	JABERI-ELAHI SYNDROME	1	GENOMICS_ENGLAND