AutismKB 2.0

Annotation Detail for EIF2B5


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Basic Information Top
Gene Symbol:EIF2B5 ( CACH,CLE,EIF-2B,EIF2Bepsilon,LVWM )
Gene Full Name: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
Band: 3q27.1
Quick LinksEntrez ID:8893; OMIM: 603945; Uniprot ID:EI2BE_HUMAN; ENSEMBL ID: ENSG00000145191; HGNC ID: 3261
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Metabolism of proteins
Gene Expression
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1832Congenital abnormality
1877Multiple sclerosis
2011Leukoencephalopathy
2088Leukodystrophy NOS
No data
No data
Desease Name
Ovarioleukodystrophy
Leukoencephalopathy with vanishing white matter
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of EIF2B5 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of EIF2B5 mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of EIF2B5 mRNAaffects expression 16483693
D005576 Forskolin Forskolin results in increased expression of EIF2B5 mRNAincreases expression 16751804
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.1918287403
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.1016705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.1016705839
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.036135515
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.8318551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.8318551238
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.1621346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.1621346803 18551238
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.5316705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.5316705839
OMIM:603896 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER marker/mechanism
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.277678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.772876784 2876786 6135515
MESH:D009336 Necrosis 2,4-dinitrotoluene 12.5418551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 12.5418551238 7678174
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 10.2316049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 10.2316049721
MESH:D012640 Seizures 2,4-dinitrotoluene 6.7418551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.7418551238
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.4316049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.4316049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 14.1910091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 14.1910091137
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:17015 Metabolism of proteins
KEGG:03013 RNA transport
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27692
  • No data
    No data
    Releated drug ID Related drug Name
    PA451365sirolimus
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018