Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | MEHMO syndrome | | ISO | EIF2S3 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 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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Variants in Eif2s3
242 total Variants |
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. |
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 | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 43 | 57 | 41 | 19 | 41 | 8 | 10 | 74 | 35 | 36 | 11 | 8 |
Low | 1 | 5 | |||||||||||
Below cutoff |
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 |
RefSeq Acc Id: | ENSRNOT00000081124 ⟹ ENSRNOP00000072851 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000082421 ⟹ ENSRNOP00000074806 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000092019 ⟹ ENSRNOP00000070817 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq 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 | ENSRNOP00000070817.2 | ||
ENSRNOP00000072851.2 | |||
ENSRNOP00000074806.2 | |||
ENSRNOP00000087240 | |||
ENSRNOP00000087240.1 | |||
ENSRNOP00055043820 | |||
ENSRNOP00060021413 | |||
ENSRNOP00065012283 | |||
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: |
RefSeq Acc Id: | ENSRNOP00000070817 ⟸ ENSRNOT00000092019 |
RefSeq Acc Id: | ENSRNOP00000074806 ⟸ ENSRNOT00000082421 |
RefSeq Acc Id: | ENSRNOP00000072851 ⟸ ENSRNOT00000081124 |
RefSeq Acc Id: | ENSRNOP00000087240 ⟸ ENSRNOT00000114488 |
RefSeq Acc Id: | XP_063135947 ⟸ XM_063279877 |
- Peptide Label: | isoform X1 |
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, UniProtKB/TrEMBL |
ENSRNOG00055030528 | UniProtKB/Swiss-Prot | |
ENSRNOG00060015583 | UniProtKB/Swiss-Prot | |
ENSRNOG00065010058 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000081124.2 | UniProtKB/TrEMBL |
ENSRNOT00000082421.2 | UniProtKB/TrEMBL | |
ENSRNOT00000092019.2 | UniProtKB/TrEMBL | |
ENSRNOT00000114488 | ENTREZGENE | |
ENSRNOT00000114488.1 | UniProtKB/Swiss-Prot | |
ENSRNOT00055053020 | UniProtKB/Swiss-Prot | |
ENSRNOT00060026737 | UniProtKB/Swiss-Prot | |
ENSRNOT00065016222 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.40.50.300 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Translation factors | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7304876 | IMAGE-MGC_LOAD |
IMAGE:7935021 | IMAGE-MGC_LOAD | |
IMAGE:9098876 | IMAGE-MGC_LOAD | |
InterPro | EFTu-like_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
eIF2g_C | UniProtKB/TrEMBL | |
eIF2g_dom_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
eIF2g_GTP-bd | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
P-loop_NTPase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TF_GTP-bd_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
TIF2_gsu_C | UniProtKB/Swiss-Prot | |
Transl_B-barrel_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Transl_elong_EF1A/Init_IF2_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
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, UniProtKB/TrEMBL |
EUKARYOTIC TRANSLATION INITIATION FACTOR 2 SUBUNIT 3-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | eIF2_C | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
GTP_EFTU | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTP_EFTU_D2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Eif2s3 | PhenoGen |
PRINTS | ELONGATNFCT | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PROSITE | G_TR_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000060793 | RatGTEx |
ENSRNOG00055030528 | RatGTEx | |
ENSRNOG00060015583 | RatGTEx | |
ENSRNOG00065010058 | RatGTEx | |
Superfamily-SCOP | SSF50447 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF50465 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
SSF52540 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
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 |