Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Eif2b3 | Rat | leukoencephalopathy with vanishing white matter 3 | | ISO | EIF2B3 (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Eif2b3 | Rat | leukoencephalopathy with vanishing white matter 3 | | ISO | EIF2B3 (Homo sapiens) | 7240710 | | OMIM | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| # | Reference Title | Reference Citation |
| 1. | Identification of domains within the epsilon-subunit of the translation initiation factor eIF2B that are necessary for guanine nucleotide exchange activity and eIF2B holoprotein formation. | Anthony TG, etal., Biochim Biophys Acta. 2000 Jun 21;1492(1):56-62. |
| 2. | Subunit assembly and guanine nucleotide exchange activity of eukaryotic initiation factor-2B expressed in Sf9 cells. | Fabian JR, etal., J Biol Chem. 1997 May 9;272(19):12359-65. |
| 3. | Reconstitution and purification of eukaryotic initiation factor 2B (eIF2B) expressed in Sf21 insect cells. | Fabian JR, etal., Protein Expr Purif. 1998 Jun;13(1):16-22. |
| 4. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 5. | Glucose stimulates the activity of the guanine nucleotide-exchange factor eIF-2B in isolated rat islets of Langerhans. | Gilligan M, etal., J Biol Chem. 1996 Jan 26;271(4):2121-5. |
| 6. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
| 7. | The mechanism of eukaryotic translation initiation: new insights and challenges. | Hinnebusch AG and Lorsch JR, Cold Spring Harb Perspect Biol. 2012 Oct 1;4(10). pii: a011544. doi: 10.1101/cshperspect.a011544. |
| 8. | Developmental changes of eukaryotic initiation factor 2B subunits in rat hippocampus. | Inamura N, etal., Neurosci Lett. 2003 Jul 31;346(1-2):117-9. |
| 9. | Regulation of eukaryotic initiation factor-2B activity in muscle of diabetic rats. | Karinch AM, etal., Am J Physiol. 1993 Jan;264(1 Pt 1):E101-8. |
| 10. | Expression, purification, and crystallization of Schizosaccharomyces pombe eIF2B. | Kashiwagi K, etal., J Struct Funct Genomics. 2016 Mar;17(1):33-8. doi: 10.1007/s10969-016-9203-3. Epub 2016 Mar 29. |
| 11. | Regulation of guanine nucleotide exchange through phosphorylation of eukaryotic initiation factor eIF2alpha. Role of the alpha- and delta-subunits of eiF2b. | Kimball SR, etal., J Biol Chem. 1998 May 22;273(21):12841-5. |
| 12. | Possible mechanisms involved in the down-regulation of translation during transient global ischaemia in the rat brain. | Martin de la Vega C, etal., Biochem J. 2001 Aug 1;357(Pt 3):819-26. |
| 13. | Increased activity of eukaryotic initiation factor 2B in PC12 cells in response to differentiation by nerve growth factor. | Munoz F, etal., J Neurochem. 1998 Nov;71(5):1905-11. |
| 14. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
| 15. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 16. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
| 17. | Cloning of cDNA for the gamma-subunit of mammalian translation initiation factor 2B, the guanine nucleotide-exchange factor for eukaryotic initiation factor 2. | Price NT, etal., Biochem J 1996 Sep 1;318 ( Pt 2):631-6. |
| 18. | GOA pipeline | RGD automated data pipeline |
| 19. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 20. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 21. | Effect of CCK and intracellular calcium to regulate eIF2B and protein synthesis in rat pancreatic acinar cells. | Sans MD, etal., Am J Physiol Gastrointest Liver Physiol. 2002 Feb;282(2):G267-76. |
| 22. | Inactivation of eIF2B and phosphorylation of PHAS-I in heat-shocked rat hepatoma cells. | Scheper GC, etal., J Biol Chem. 1997 Oct 24;272(43):26850-6. |
| 23. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
| 24. | Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter. | van der Knaap MS, etal., Ann Neurol 2002 Feb;51(2):264-70. |
| PMID:8626696 | PMID:10900014 | PMID:11323413 | PMID:15054402 | PMID:15060152 | PMID:15217090 | PMID:15489334 | PMID:16289705 | PMID:31505169 |
| Eif2b3 (Rattus norvegicus - Norway rat) |
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| EIF2B3 (Homo sapiens - human) |
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| Eif2b3 (Mus musculus - house mouse) |
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| Eif2b3 (Chinchilla lanigera - long-tailed chinchilla) |
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| EIF2B3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| EIF2B3 (Canis lupus familiaris - dog) |
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| Eif2b3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| EIF2B3 (Sus scrofa - pig) |
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| EIF2B3 (Chlorocebus sabaeus - green monkey) |
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| Eif2b3 (Heterocephalus glaber - naked mole-rat) |
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| Eif2b3 (Rattus rattus - black rat) |
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Variants in Eif2b3
224 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| D5Got52 |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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| 16 | 12 | 67 | 165 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 144 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_133609 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_006238630 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039109223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063287117 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AC119459 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC072507 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH474008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| U38253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000024841 ⟹ ENSRNOP00000024841 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000094985 ⟹ ENSRNOP00000077189 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000097401 ⟹ ENSRNOP00000088850 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000104975 ⟹ ENSRNOP00000078081 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000109617 ⟹ ENSRNOP00000095520 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000111764 ⟹ ENSRNOP00000078465 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | NM_133609 ⟹ NP_598293 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_006238630 ⟹ XP_006238692 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_039109223 ⟹ XP_038965151 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063287117 ⟹ XP_063143187 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_598293 | (Get FASTA) | NCBI Sequence Viewer |
| XP_006238692 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038965151 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063143187 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAC52788 | (Get FASTA) | NCBI Sequence Viewer |
| AAH72507 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL90236 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL90237 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000024841 | ||
| ENSRNOP00000088850.1 | |||
| ENSRNOP00000095520 | |||
| GenBank Protein | P70541 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_598293 ⟸ NM_133609 |
| - UniProtKB: | Q6IN08 (UniProtKB/Swiss-Prot), P70541 (UniProtKB/Swiss-Prot), A6JZB6 (UniProtKB/TrEMBL), A0A8I6APB6 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_006238692 ⟸ XM_006238630 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | Q6IN08 (UniProtKB/Swiss-Prot), P70541 (UniProtKB/Swiss-Prot), A6JZB6 (UniProtKB/TrEMBL), A0A8I6APB6 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000024841 ⟸ ENSRNOT00000024841 |
| RefSeq Acc Id: | XP_038965151 ⟸ XM_039109223 |
| - Peptide Label: | isoform X3 |
| Ensembl Acc Id: | ENSRNOP00000088850 ⟸ ENSRNOT00000097401 |
| Ensembl Acc Id: | ENSRNOP00000078081 ⟸ ENSRNOT00000104975 |
| Ensembl Acc Id: | ENSRNOP00000095520 ⟸ ENSRNOT00000109617 |
| Ensembl Acc Id: | ENSRNOP00000077189 ⟸ ENSRNOT00000094985 |
| Ensembl Acc Id: | ENSRNOP00000078465 ⟸ ENSRNOT00000111764 |
| RefSeq Acc Id: | XP_063143187 ⟸ XM_063287117 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | A0A8I6APB6 (UniProtKB/TrEMBL), A0A8I5ZKY2 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-P70541-F1-model_v2 | AlphaFold | P70541 | 1-452 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13693946 | ||||||||
| Promoter ID: | EPDNEW_R4471 | ||||||||
| Type: | initiation region | ||||||||
| Name: | Eif2b3_1 | ||||||||
| Description: | eukaryotic translation initiation factor 2B subunit gamma | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
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| Database | Acc Id | Source(s) |
| AGR Gene | RGD:620821 | AgrOrtholog |
| BioCyc Gene | G2FUF-40221 | BioCyc |
| Ensembl Genes | ENSRNOG00000018375 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000024841 | ENTREZGENE |
| ENSRNOT00000097401.1 | UniProtKB/Swiss-Prot | |
| ENSRNOT00000109617 | ENTREZGENE | |
| Gene3D-CATH | Hexapeptide repeat proteins | UniProtKB/Swiss-Prot |
| Spore Coat Polysaccharide Biosynthesis Protein SpsA, Chain A | UniProtKB/Swiss-Prot | |
| IMAGE_CLONE | IMAGE:7099973 | IMAGE-MGC_LOAD |
| InterPro | eIF2B_gamma | UniProtKB/Swiss-Prot |
| NTP_transferase_dom | UniProtKB/Swiss-Prot | |
| Nucleotide-diphossugar_trans | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:171145 | UniProtKB/Swiss-Prot |
| MGC_CLONE | MGC:91499 | IMAGE-MGC_LOAD |
| NCBI Gene | 171145 | ENTREZGENE |
| PANTHER | TRANSLATION INITIATION FACTOR EIF-2B SUBUNIT GAMMA | UniProtKB/Swiss-Prot |
| TRANSLATION INITIATION FACTOR EIF-2B SUBUNIT GAMMA | UniProtKB/Swiss-Prot | |
| Pfam | LbH_EIF2B | UniProtKB/Swiss-Prot |
| NTP_transferase | UniProtKB/Swiss-Prot | |
| PhenoGen | Eif2b3 | PhenoGen |
| RatGTEx | ENSRNOG00000018375 | RatGTEx |
| Superfamily-SCOP | SSF53448 | UniProtKB/Swiss-Prot |
| UniProt | A0A8I5Y606_RAT | UniProtKB/TrEMBL |
| A0A8I5Y9W9_RAT | UniProtKB/TrEMBL | |
| A0A8I5ZKY2 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I6APB6 | ENTREZGENE | |
| A0A8L2QD14_RAT | UniProtKB/TrEMBL | |
| A6JZB6 | ENTREZGENE, UniProtKB/TrEMBL | |
| EI2BG_RAT | UniProtKB/Swiss-Prot, ENTREZGENE | |
| Q6IN08 | ENTREZGENE | |
| UniProt Secondary | Q6IN08 | UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2017-03-07 | Eif2b3 | eukaryotic translation initiation factor 2B subunit gamma | Eif2b3 | eukaryotic translation initiation factor 2B, subunit 3 gamma | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2016-03-31 | Eif2b3 | eukaryotic translation initiation factor 2B, subunit 3 gamma | Eif2b3 | eukaryotic translation initiation factor 2B, subunit 3 | Name changed | 629549 | APPROVED |
| 2011-04-29 | Eif2b3 | eukaryotic translation initiation factor 2B, subunit 3 | Eif2b3 | eukaryotic translation initiation factor 2B, subunit 3 gamma | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-11-25 | Eif2b3 | eukaryotic translation initiation factor 2B, subunit 3 gamma | Eif2b3 | eukaryotic translation initiation factor 2B, subunit 3 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2008-02-25 | Eif2b3 | eukaryotic translation initiation factor 2B, subunit 3 | Eif2b3 | eukaryotic translation initiation factor 2B, subunit 3 gamma | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2005-01-20 | Eif2b3 | eukaryotic translation initiation factor 2B, subunit 3 gamma | eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD) | Name updated | 1299863 | APPROVED | |
| 2002-08-07 | Eif2b3 | eukaryotic translation initiation factor 2B, subunit 3 (gamma, 58kD) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |
| Note Type | Note | Reference |
|---|---|---|
| gene_domains | contains P-loop region (nucleotide-binding)and I-patch region (isoleucine hexamer repeat domain) | 728627 |
| gene_homology | shares 19% sequence identity with yeast eIF2B-gamma | 728627 |