Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Eif2s3 | Rat | MEHMO syndrome | | ISO | EIF2S3 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTDObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Eif2s3 | Rat | MEHMO syndrome | | ISO | EIF2S3 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| # | Reference Title | Reference Citation |
| 1. | Shape and location of eukaryotic initiation factor eIF-2 on the 40S ribosomal subunit of rat liver. Immunoelectron-microscopic and hydrodynamic investigations. | Bommer UA, etal., Eur J Biochem. 1988 Mar 15;172(3):653-62. |
| 2. | 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. |
| 3. | GOA pipeline | RGD automated data pipeline |
| 4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 5. | 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. |
| 6. | Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB. | Young-Baird SK, etal., Mol Cell. 2020 Feb 20;77(4):875-886.e7. doi: 10.1016/j.molcel.2019.11.008. Epub 2019 Dec 10. |
| PMID:8780732 | PMID:8889548 | PMID:10900014 | PMID:12426392 | PMID:16289705 | PMID:16854843 | PMID:20458337 | PMID:23063529 | PMID:25468996 |
| Eif2s3 (Rattus norvegicus - Norway rat) |
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| EIF2S3 (Homo sapiens - human) |
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| Eif2s3x (Mus musculus - house mouse) |
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| Eif2s3 (Chinchilla lanigera - long-tailed chinchilla) |
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| EIF2S3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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| EIF2S3 (Canis lupus familiaris - dog) |
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| Eif2s3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| EIF2S3 (Sus scrofa - pig) |
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| EIF2S3 (Chlorocebus sabaeus - green monkey) |
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| Eif2s3 (Heterocephalus glaber - naked mole-rat) |
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| Eif2s3 (Rattus rattus - black rat) |
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Variants in Eif2s3
48 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 |
| RH17627 |
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| EIF2S3 |
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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_001100542 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_063279877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AI029347 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC091286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BC166783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| BM392036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| CH473966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| EV772689 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ216259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| FQ222339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000081124 ⟹ ENSRNOP00000072851 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000082421 ⟹ ENSRNOP00000074806 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000092019 ⟹ ENSRNOP00000070817 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000114488 ⟹ ENSRNOP00000087240 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | NM_001100542 ⟹ NP_001094012 | ||||||||||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_063279877 ⟹ XP_063135947 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Protein RefSeqs | NP_001094012 | (Get FASTA) | NCBI Sequence Viewer |
| XP_063135947 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAH91286 | (Get FASTA) | NCBI Sequence Viewer |
| AAI66783 | (Get FASTA) | NCBI Sequence Viewer | |
| EDL96007 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000070817 | ||
| ENSRNOP00000087240.1 | |||
| GenBank Protein | P81795 | (Get FASTA) | NCBI Sequence Viewer |
| RefSeq Acc Id: | NP_001094012 ⟸ NM_001100542 |
| - UniProtKB: | B2RYH8 (UniProtKB/Swiss-Prot), B0BN96 (UniProtKB/Swiss-Prot), Q5BJX8 (UniProtKB/Swiss-Prot), P81795 (UniProtKB/Swiss-Prot), A0A8L2R4R9 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000070817 ⟸ ENSRNOT00000092019 |
| Ensembl Acc Id: | ENSRNOP00000074806 ⟸ ENSRNOT00000082421 |
| Ensembl Acc Id: | ENSRNOP00000072851 ⟸ ENSRNOT00000081124 |
| Ensembl Acc Id: | ENSRNOP00000087240 ⟸ ENSRNOT00000114488 |
| RefSeq Acc Id: | XP_063135947 ⟸ XM_063279877 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | Q5BJX8 (UniProtKB/Swiss-Prot), P81795 (UniProtKB/Swiss-Prot), B2RYH8 (UniProtKB/Swiss-Prot), B0BN96 (UniProtKB/Swiss-Prot), A0A8L2R4R9 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-P81795-F1-model_v2 | AlphaFold | P81795 | 1-472 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13701840 | ||||||||
| Promoter ID: | EPDNEW_R12364 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | Eif2s3_1 | ||||||||
| Description: | eukaryotic translation initiation factor 2 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:1561279 | AgrOrtholog |
| BioCyc Gene | G2FUF-2247 | BioCyc |
| Ensembl Genes | ENSRNOG00000060793 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
| Ensembl Transcript | ENSRNOT00000092019 | ENTREZGENE |
| ENSRNOT00000114488.1 | UniProtKB/Swiss-Prot | |
| Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot |
| Translation factors | UniProtKB/Swiss-Prot | |
| IMAGE_CLONE | IMAGE:7304876 | IMAGE-MGC_LOAD |
| IMAGE:7935021 | IMAGE-MGC_LOAD | |
| IMAGE:9098876 | IMAGE-MGC_LOAD | |
| InterPro | EFTu-like_2 | UniProtKB/Swiss-Prot |
| eIF2G | UniProtKB/Swiss-Prot | |
| eIF2g_dom_2 | UniProtKB/Swiss-Prot | |
| eIF2g_GTP-bd | UniProtKB/Swiss-Prot | |
| P-loop_NTPase | UniProtKB/Swiss-Prot | |
| TF_GTP-bd_dom | UniProtKB/Swiss-Prot | |
| TIF2_gsu_C | UniProtKB/Swiss-Prot | |
| Transl_B-barrel_sf | UniProtKB/Swiss-Prot | |
| Transl_elong_EF1A/Init_IF2_C | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:299027 | UniProtKB/Swiss-Prot |
| MGC_CLONE | MGC:109183 | IMAGE-MGC_LOAD |
| MGC:187904 | IMAGE-MGC_LOAD | |
| MGC:188564 | IMAGE-MGC_LOAD | |
| NCBI Gene | 299027 | ENTREZGENE |
| PANTHER | EUKARYOTIC TRANSLATION INITIATION FACTOR 2 SUBUNIT 3 FAMILY MEMBER | UniProtKB/Swiss-Prot |
| EUKARYOTIC TRANSLATION INITIATION FACTOR 2 SUBUNIT 3-RELATED | UniProtKB/Swiss-Prot | |
| Pfam | eIF2_C | UniProtKB/Swiss-Prot |
| GTP_EFTU | UniProtKB/Swiss-Prot | |
| GTP_EFTU_D2 | UniProtKB/Swiss-Prot | |
| PhenoGen | Eif2s3 | PhenoGen |
| PRINTS | ELONGATNFCT | UniProtKB/Swiss-Prot |
| PROSITE | G_TR_2 | UniProtKB/Swiss-Prot |
| RatGTEx | ENSRNOG00000060793 | RatGTEx |
| Superfamily-SCOP | SSF50447 | UniProtKB/Swiss-Prot |
| SSF50465 | UniProtKB/Swiss-Prot | |
| SSF52540 | UniProtKB/Swiss-Prot | |
| UniProt | A0A096MJB9_RAT | UniProtKB/TrEMBL |
| A0A1P0QU16_RAT | UniProtKB/TrEMBL | |
| A0A8L2R4R9 | ENTREZGENE, UniProtKB/TrEMBL | |
| B0BN96 | ENTREZGENE | |
| B2RYH8 | ENTREZGENE | |
| IF2G_RAT | UniProtKB/Swiss-Prot, ENTREZGENE | |
| Q5BJX8 | ENTREZGENE | |
| UniProt Secondary | B0BN96 | UniProtKB/Swiss-Prot |
| B2RYH8 | UniProtKB/Swiss-Prot | |
| Q5BJX8 | UniProtKB/Swiss-Prot |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2016-09-09 | Eif2s3 | eukaryotic translation initiation factor 2 subunit gamma | Eif2s3 | eukaryotic translation initiation factor 2, subunit 3 gamma | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2012-01-11 | Eif2s3 | eukaryotic translation initiation factor 2, subunit 3 gamma | Eif2s3x | eukaryotic translation initiation factor 2, subunit 3, structural gene X-linked | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
| 2006-03-30 | Eif2s3x | eukaryotic translation initiation factor 2, subunit 3, structural gene X-linked | Symbol and Name status set to approved | 1299863 | APPROVED | ||
| 2006-02-09 | Eif2s3x | eukaryotic translation initiation factor 2, subunit 3, structural gene X-linked | Symbol and Name status set to provisional | 70820 | PROVISIONAL |