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Center for Computational Systems Medicine
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Gene Summary

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Translation studies in PubMed

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Exon Skipping Events

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Expression

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Expression Regulation

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Associated Genes

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Protein 3D Structure

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Protein-Protein Interaction

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Mutations

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Prognostic Analysis

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Gender Association

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Age Association

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Related Drugs

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Related Diseases

Translation Factor: EIF2D (NCBI Gene ID:1939)


Gene Summary

check button Gene Summary
Gene InformationGene Name: EIF2D
Gene ID: 1939
Gene Symbol

EIF2D

Gene ID

1939

Gene Nameeukaryotic translation initiation factor 2D
SynonymsHCA56|LGTN
Cytomap

1q32.1

Type of Geneprotein-coding
Descriptioneukaryotic translation initiation factor 2Dhepatocellular carcinoma-associated antigen 56ligatin
Modification date20200313
UniProtAcc

P41214


check button Child GO biological process term(s) under GO:0006412
GO IDGO term
GO:0006417Regulation of translation
GO:0008135Translation factor activity, RNA binding
GO:0002181Cytoplasmic translation
GO:0006413Translational initiation
GO:0006412Translation


check button Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneEIF2D

GO:0001731

formation of translation preinitiation complex

20713520

HgeneEIF2D

GO:0032790

ribosome disassembly

20713520

HgeneEIF2D

GO:0075522

IRES-dependent viral translational initiation

20713520



check button Inferred gene age of translation factor.
GeneInferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25


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Translation Studies in PubMed

check button We searched PubMed using 'EIF2D[title] AND translation [title] AND human.'
GeneTitlePMID
EIF2DA C. elegans model of C9orf72-associated ALS/FTD uncovers a conserved role for eIF2D in RAN translation34654821


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Exon Skipping Events

check buttonSkipped 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.
all structure

check button 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.
ENSTExon skip start (DNA)Exon Skip end (DNA)ORF
ENST00000271764206770449206770545In-frame
ENST00000271764206772816206772966In-frame
ENST00000271764206773086206773190Frame-shift
ENST00000271764206775689206775807Frame-shift
ENST00000271764206776304206776558Frame-shift
ENST00000271764206778752206778860In-frame
ENST00000271764206782728206782812In-frame

check button Exon skipping position in the amino acid sequence.
ENSTExon 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)
ENST00000271764206770449206770545211115021597584431462
ENST00000271764206772816206772966211112621411584351400
ENST000002717642067787522067788602111632739584141176
ENST00000271764206782728206782812211145754058482110

check button Potentially (partially) lost protein functional features of UniProt.
UniProtAccExon skip start (AA)Exon Skip end (AA)Function feature start (AA)Function feature end (AA)Functional feature typeFunctional feature desc.


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Expression


check buttonGene expression level across TCGA pancancer
all structure

check buttonGene expression level across GTEx pantissue
all structure

check buttonExpression level of gene isoforms across TCGA pancancer
all structure

check buttonExpression level of gene isoforms across GTEx pantissue
all structure

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

check buttonDifferential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)
Cancer typeTranslation factorFCadj.pval


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Expression Regulation


check buttonTranslation factor expression regulation through miRNA binding
Cancer typeGenemiRNATargetScan binding score (Context++ score percentile)CoefficientPvalue


check buttonTranslation factor expression regulation through methylation in the promoter of Translation factor
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a

check buttonTranslation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a

check buttonTranslation factor expression regulation through copy number variation of Translation factor
Cancer typeGeneCoefficientPvalue

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Associated Genes


check button Strongly correlated genes belong to cellular important gene groups with EIF2D (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 typeGene groupTranslation factorCorrelated geneCoefficientPvalue


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Protein structure


check button Protein 3D structure
Visit iCn3D.


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Protein-Protein Interaction


check button 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))
all structure

check buttonOverlap 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))
all structure
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* Edge colors based on TCGA cancer types.

check button* 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))
all structure
Cancer typeTranslation factorInteracting protein coding geneFCadj.pval
HNSCEIF2DEIF1-4.133994382109090.000228392819053625
BRCAEIF2DABCE11.37406261466480.000669229587514616
HNSCEIF2DDENR1.630466118614770.00106627625814326
LUADEIF2DRPS8-2.734631372998330.00134906742748461
LIHCEIF2DABCE11.337751210027150.0033398145023608
PRADEIF2DRPS81.329570244970660.00418162555035067
LIHCEIF2DEIF5B-2.202296818315460.00440340335695336
LIHCEIF2DEIF1B-1.522966432226070.00467797572102414
HNSCEIF2DEIF1B1.290225545279370.00540290265007571
PRADEIF2DEIF11.328226489913530.00674237731133815
LUSCEIF2DRPS8-1.952987951249640.00724217523600344
COADEIF2DEIF5B-1.843198394106670.0101850330829621
HNSCEIF2DABCE11.203320812336590.0124875666290336
LUADEIF2DRPS4X-2.435942826763660.0163893452361939
BLCAEIF2DABCE1-4.088631200874710.0229873657226562
COADEIF2DRPS131.301758251004690.0357243716716767
COADEIF2DRPS91.186120144022350.0381683111190796
UCECEIF2DEIF1B-5.932086817247070.046875
HNSCEIF2DRPS252.244390186365251.07420805761649e-06
KIRCEIF2DRPS8-3.972436084766411.19932271980764e-10
PRADEIF2DABCE1-2.90895135146261.31460603050763e-05
KIRCEIF2DRPS4X-1.641400736800631.72010286166321e-07
BRCAEIF2DRPS91.93314775463492.31299392089389e-07
BRCAEIF2DRPS4X-1.553437109039863.36588066248297e-09
KIRCEIF2DRPS9-1.326808164409876.53264115309597e-07
THCAEIF2DRPS4X1.497778771188166.68348444344278e-07
KIRPEIF2DRPS8-1.204324006872157.40401446819306e-05
BRCAEIF2DEIF5B2.098946641441558.11370754946327e-13


check button Protein-protein interactors with this translation factor (BIOGRID-3.4.160)
PPI interactors with EIF2D
RAD51, CUL3, EIF1B, HARS, DHX15, EIF1, AICDA, GMPPB, PSMC3, CALU, CKAP5, DENR, ELAC2, GCN1L1, KIN, RECQL5, HNRNPR, NAA38, RCC2, WDR5, ZNHIT2, CDC5L, DUSP12, PCBP1, TNIP2, MYC, ATG16L1, BICD2, HSPA8, MKI67, FASN, SLC22A4, C11orf87, PRPS2, CCNF,


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Mutations


check button Clinically associated variants from ClinVar.
GeneChrPositionRefSeqVarSeqRefSeeqVarTypePathogenicDiseaseVarInfo


check button nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.
all structure


check button SNVs and Indels
GeneCancer typeChromosomeStartEndRefSeeqMutSeqMutation typeAAchange# samples
EIF2DLUADchr1206785640206785640CASplice_Sitep.R19_splice6
EIF2DSKCMchr1206778857206778857GASilentp.A142A3
EIF2DLIHCchr1206769068206769068T-Splice_Sitep.K503_splice3
EIF2DESCAchr1206765123206765123GAMissense_Mutationp.P580L3
EIF2DKIRPchr1206767112206767112CTMissense_Mutationp.G514S3
EIF2DLIHCchr1206769175206769175T-Frame_Shift_Delp.K467fs3
EIF2DSKCMchr1206769163206769163GASilentp.A471A3
EIF2DPAADchr1206773132206773132CAMissense_Mutationp.S336I2
EIF2DESCAchr1206765123206765123GAMissense_Mutation2
EIF2DSTADchr1206767100206767100AGMissense_Mutationp.Y518H2
EIF2DPRADchr1206778810206778810GAMissense_Mutationp.T158M2
EIF2DSKCMchr1206770466206770466CTMissense_Mutationp.D458N2
EIF2DESCAchr1206776495206776495GCSilent2
EIF2DLUADchr1206784620206784620GAMissense_Mutationp.A55V2
EIF2DCESCchr1206769124206769124CTSilent2
EIF2DSKCMchr1206772821206772821GAMissense_Mutationp.H400Y2
EIF2DESCAchr1206776495206776495GCSilentp.L198L2
EIF2DSARCchr1206772927206772927GASilent2
EIF2DSKCMchr1206772888206772888GASilentp.H377H2
EIF2DSKCMchr1206772928206772928GAMissense_Mutationp.S364F2
EIF2DPAADchr1206773132206773132CAMissense_Mutation2
EIF2DSKCMchr1206776555206776555CTSilentp.R178R2
EIF2DLIHCchr1206765135206765135T-Frame_Shift_Delp.K576fs2
EIF2DSTADchr1206772933206772933CTSilent2
EIF2DPAADchr1206773158206773158CTSilent2
EIF2DSKCMchr1206769134206769134GAMissense_Mutationp.P481L2
EIF2DESCAchr1206767028206767028CTMissense_Mutationp.D542N2
EIF2DSTADchr1206767100206767100AGMissense_Mutation2
EIF2DPAADchr1206773158206773158CTSilentp.E327E2
EIF2DLIHCchr1206765155206765155T-Frame_Shift_Delp.K569fs2
EIF2DSTADchr1206772933206772933CTSilentp.P362P2
EIF2DKIRPchr1206773178206773178GTMissense_Mutation1
EIF2DTHYMchr1206765131206765131GTSilentp.A577A1
EIF2DBLCAchr1206772966206772966CTSilent1
EIF2DSKCMchr1206767007206767007GANonsense_Mutationp.Q549*1
EIF2DLUADchr1206772426206772426CTMissense_Mutationp.G408D1
EIF2DKIRPchr1206785684206785684CTSilent1
EIF2DUCECchr1206772406206772406CTMissense_Mutationp.V415I1
EIF2DBLCAchr1206782760206782760ACSilentp.P100P1
EIF2DLIHCchr1206772357206772357T-Splice_Sitep.N431_splice1
EIF2DSKCMchr1206770521206770521TCSilentp.L439L1
EIF2DLUADchr1206767018206767018TCMissense_Mutationp.Q545R1
EIF2DSTADchr1206782790206782790AGSilentp.P90P1
EIF2DLGGchr1206760238206760238GASilent1
EIF2DPRADchr1206782805206782805CTSilentp.T85T1
EIF2DSKCMchr1206770467206770467CTNonsense_Mutationp.W457X1
EIF2DUCSchr1206773144206773144AGMissense_Mutation1
EIF2DBLCAchr1206772966206772966CTSplice_Sitep.R351R1
EIF2DLIHCchr1206772934206772934G-Frame_Shift_Delp.P362fs1
EIF2DSKCMchr1206770467206770467CTNonsense_Mutationp.W457*1
EIF2DESCAchr1206767028206767028CTMissense_Mutation1
EIF2DSTADchr1206773628206773628TAMissense_Mutationp.S313C1
EIF2DLIHCchr1206775771206775771TCMissense_Mutation1
EIF2DREADchr1206776509206776509CTMissense_Mutationp.D194N1
EIF2DSKCMchr1206773087206773087CTMissense_Mutationp.R351K1
EIF2DUCSchr1206773144206773144AGMissense_Mutationp.V332A1
EIF2DLIHCchr1206773124206773124C-Frame_Shift_Delp.V339fs1
EIF2DSKCMchr1206772870206772870GASilentp.P383P1
EIF2DESCAchr1206784611206784611CAMissense_Mutationp.G58V1
EIF2DLUADchr1206772944206772944CANonsense_Mutationp.E359*1
EIF2DSTADchr1206784635206784635AGMissense_Mutationp.I50T1
EIF2DLIHCchr1206772954206772954GASilent1
EIF2DSARCchr1206778849206778849GTMissense_Mutation1
EIF2DCESCchr1206769124206769124CTSilentp.K4841
EIF2DLIHCchr1206784722206784722T-Frame_Shift_Delp.K21fs1
EIF2DSKCMchr1206784693206784693GAMissense_Mutationp.P31S1
EIF2DLUADchr1206784708206784708CAMissense_Mutationp.V26L1
EIF2DSTADchr1206776401206776401GAMissense_Mutationp.H230Y1
EIF2DLIHCchr1206775799206775799CAMissense_Mutationp.D265Y1
EIF2DCOADchr1206769079206769079CTSilentp.A499A1
EIF2DLIHCchr1206767003206767003C-Frame_Shift_Delp.G550fs1
EIF2DSKCMchr1206784648206784648CTMissense_Mutationp.E46K1
EIF2DGBMchr1206760184206760184TGSilent1
EIF2DLUSCchr1206784717206784717GANonsense_Mutationp.R23*1
EIF2DSTADchr1206773636206773637-TTATGTCCFrame_Shift_Insp.K310_K311delinsRTX1
EIF2DLIHCchr1206772954206772954GASilentp.F355F1
EIF2DCOADchr1206769090206769090CTMissense_Mutationp.A496T1
EIF2DLIHCchr1206773618206773618T-Splice_Sitep.K316_splice1
EIF2DSKCMchr1206767083206767083GASilentp.I523I1
EIF2DHNSCchr1206785672206785672GCSilent1
EIF2DOVchr1206772937206772937GTMissense_Mutationp.S361Y1
EIF2DSARCchr1206772927206772927GASilentp.S364S1
EIF2DTGCTchr1206781611206781612CA-Frame_Shift_Del1
EIF2DSKCMchr1206773087206773087CTSplice_Sitep.R351_splice1
EIF2DLIHCchr1206767034206767034C-Frame_Shift_Delp.A540fs1
EIF2DCOADchr1206773090206773090GAMissense_Mutationp.P350L1
EIF2DLIHCchr1206781649206781649G-Frame_Shift_Delp.P121fs1
EIF2DSKCMchr1206785667206785667GAMissense_Mutationp.S10F1
EIF2DHNSCchr1206785672206785672GCSilentp.V8V1
EIF2DTGCTchr1206781611206781612CA-Frame_Shift_Delp.134_134del1
EIF2DSKCMchr1206778855206778855GAMissense_Mutationp.P143L1
EIF2DACCchr1206784680206784680GCMissense_Mutationp.T35S1
EIF2DLIHCchr1206782734206782734C-Frame_Shift_Delp.G109fs1
EIF2DTGCTchr1206781611206781612CA-Frame_Shift_Delp.CA133fs1
EIF2DSKCMchr1206782792206782792GAMissense_Mutationp.P90S1
EIF2DACCchr1206769135206769135GAMissense_Mutationp.P481S1
EIF2DLUADchr1206767041206767041GTSilentp.A537A1
EIF2DKIRPchr1206767112206767112CTMissense_Mutation1
EIF2DTHYMchr1206766977206766977GASilent1
EIF2DSKCMchr1206769095206769095GAMissense_Mutationp.T494I1
EIF2DBLCAchr1206782760206782760ACSilent1
EIF2DESCAchr1206776495206776495GCSilentp.L1981

check buttonCopy number variation (CNV) of EIF2D
* Click on the image to open the original image in a new window.
all structure

check buttonFusion gene breakpoints (product of the structural variants (SVs)) across EIF2D
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


check button Fusion genes with this translation factor from FusionGDB2.0.
FusionGDB2 IDDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
102857GBMTCGA-27-2519-01AEIF2Dchr1206769067-CHMP1Achr1689713739-
101074N/AAF262403EIF2Dchr1206764974-MACROD2chr2014529420-
25727Non-Cancer61NEIF2Dchr1206778752-MARC2chr1220957260+
90918N/ABI907782EIF2Dchr1206762080-RASSF5chr1206762258+
94175N/AAI299201PEX19chr1160248798+EIF2Dchr1206772898-
94175N/ABE159686RASSF5chr1206760374+EIF2Dchr1206760755-
94179N/ABM151033TRIM9chr1451538091-EIF2Dchr1206764974+


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Prognostic Analysis


check button Kaplan-Meier plots with logrank tests of overall survival (OS)
Cancer typeTranslation factorCoefficentHazard ratioWald test pvalLikelihool ratio pvalLogrank test pval# samples


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Translation factor and Gender


check button Differential gene expression between female and male. (Wilcoxon test, pval<0.05)
Cancer typeTranslation factorpvaladj.p

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Translation factor and Age


check button Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)
Cancer typeTranslation factorpvaladj.p

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Related Drugs


check button Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases


check button Diseases associated with this translation factor.
(DisGeNet 4.0)
Disease IDDisease Name# PubMedsDisease source