mutated Ligand Binding Site gene DataBase





About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for EIF2B1
Gene summary
Basic gene Info.Gene symbolEIF2B1
Gene nameeukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
CytomapUCSC genome browser: 12q24.31
Type of geneprotein-coding
DescriptioneIF-2B GDP-GTP exchange factor subunit alphatranslation initiation factor eIF-2B subunit alpha
Modification date20141219
dbXrefs MIM : 606686
HPRD : 09458
ProteinUniProt: Q14232
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_EIF2B1
BioGPS: 1967
PathwayNCI Pathway Interaction Database: EIF2B1
Pathway Commons: EIF2B1
ContextiHOP: EIF2B1
ligand binding site mutation search in PubMed: EIF2B1
UCL Cancer Institute: EIF2B1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006413translational initiation16289705
GO:0043547positive regulation of GTPase activity11323413
GO:0051716cellular response to stimulus8626696

Ligand binding site mutations for EIF2B1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

Protein structure related information for EIF2B1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for EIF2B1 from PDB

Differential gene expression and gene-gene network for EIF2B1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of EIF2B1 and the right PPI network was created from samples without mutations in the LBS of EIF2B1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for EIF2B1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1858991LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER11AlteredExpression, Biomarker, GeneticVariation
umls:C1847967Vanishing White Matter Leukodystrophy with Ovarian Failure4Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for EIF2B1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of EIF2B1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
SO4SULFATE3ecsAS131 K234
SO4SULFATE3ecsBS131 K234
SO4SULFATE3ecsCS131 K234
SO4SULFATE3ecsDS131 K234
SO4SULFATE3ecsES131 K234
SO4SULFATE3ecsFS131 K234
SO4SULFATE3ecsGS131 K234
SO4SULFATE3ecsHS131 K234

Conservation information for LBS of EIF2B1
Multiple alignments for Q14232 in multiple species
LBSAA sequence# speciesSpecies
D121HTFIKDGARIL2Mus musculus, Bos taurus
D121HTFIKDGATIL1Homo sapiens
D121RLFFTHHMNIL1Caenorhabditis elegans
D121HAFIKDGARIL1Rattus norvegicus
D121VDFIADDDIIL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D121YPLIRDGSVIL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K120CHTFIKDGARI2Mus musculus, Bos taurus
K120CHTFIKDGATI1Homo sapiens
K120ARLFFTHHMNI1Caenorhabditis elegans
K120CHAFIKDGARI1Rattus norvegicus
K120GVDFIADDDII1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K120GYPLIRDGSVI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K146AVAAKKRFSVY4Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus
K146AHKSGYHLHVW1Caenorhabditis elegans
K146AANKFIRFRCV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K146AAKRHVRFKVF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K234VAESFKFVRLF4Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus
K234CAETIKFVREF1Caenorhabditis elegans
K234VTESHKFVRMF1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K234VAESHKFVRMF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R108RISLSRNKIAD2Homo sapiens, Bos taurus
R108NVRGSRAKISK1Caenorhabditis elegans
R108RISLSRTKIAS1Rattus norvegicus
R108RISLSRNKIAN1Mus musculus
R108RAKKSRNKIAE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R108RARACRQRIAH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R132THAYSRVVLRV4Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus
R132THSYSKVVLET1Caenorhabditis elegans
R132VHGYSRAVFSL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R132THGFSRGVAAV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S131LTHAYSRVVLR4Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus
S131LTHSYSKVVLE1Caenorhabditis elegans
S131LVHGYSRAVFS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S131LTHGFSRGVAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V133HAYSRVVLRVL4Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus
V133HSYSKVVLETI1Caenorhabditis elegans
V133HGYSRAVFSLL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V133HGFSRGVAAVL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)

Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas