Aliases for EIF2S3 Gene
Aliases for EIF2S3 Gene
External Ids for EIF2S3 Gene
- HGNC: 3267
- Entrez Gene: 1968
- Ensembl: ENSG00000130741
- OMIM: 300161
- UniProtKB: P41091
Previous HGNC Symbols for EIF2S3 Gene
- EIF2G
Previous GeneCards Identifiers for EIF2S3 Gene
- GC0XP022888
- GC0XP022719
- GC0XP023275
- GC0XP023434
- GC0XP023832
- GC0XP023982
- GC0XP021816
Summaries for EIF2S3 Gene
-
The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by RefSeq, Jan 2010]
GeneCards Summary for EIF2S3 Gene
EIF2S3 (Eukaryotic Translation Initiation Factor 2 Subunit Gamma) is a Protein Coding gene. Diseases associated with EIF2S3 include Mehmo Syndrome and Intellectual Disability, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity. Among its related pathways are Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include GTP binding and translation initiation factor activity. An important paralog of this gene is EIF2S3B.
UniProtKB/Swiss-Prot for EIF2S3 Gene
-
As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex. In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF2B (By similarity). Along with its paralog on chromosome Y, may contribute to spermatogenesis up to the round spermatid stage (By similarity).
Additional gene information for EIF2S3 Gene
- Monarch Initiative
- Search for EIF2S3 at DataMed
- Search for EIF2S3 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EIF2S3 Gene
Genomics for EIF2S3 Gene
GeneHancer (GH) Regulatory Elements for EIF2S3 Gene
Promoters and enhancers for EIF2S3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around EIF2S3 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for EIF2S3 Gene
Genomic Locations for EIF2S3 Gene
- chrX:24,054,716-24,078,810
- (GRCh38/hg38)
- Size:
- 24,095 bases
- Orientation:
- Plus strand
- chrX:24,072,833-24,096,927
- (GRCh37/hg19)
Genomic View for EIF2S3 Gene
Genes around EIF2S3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.11 by Ensembl
- Xp22.11 by Entrez Gene
- Xp22.11 by HGNC
EIF2S3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EIF2S3 Gene
Proteins for EIF2S3 Gene
-
Protein details for EIF2S3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P41091-IF2G_HUMAN
- Recommended name:
- Eukaryotic translation initiation factor 2 subunit 3
- Protein Accession:
- P41091
- A0A024RBY4
- A8K2Y2
- B2R5N2
- B5BTZ4
- Q53HK3
Protein attributes for EIF2S3 Gene
- Size:
- 472 amino acids
- Molecular mass:
- 51109 Da
- Quaternary structure:
-
- The eukaryotic translation initiation factor 2 complex/eIF2 is a heterotrimer composed of an alpha subunit, also called subunit 1 (encoded by EIF2S1), a beta subunit, also called subunit 2 (encoded by EIF2S2) and a gamma subunit, also called subunit 3 (encoded by EIF2S3).
- Miscellaneous:
-
- Encoded by an chromosome X-linked gene which escapes inactivation. Does not have any homolog on chromosome Y.
Protein Expression for EIF2S3 Gene
Post-translational modifications for EIF2S3 Gene
- Ubiquitination at Lys90, Lys121, posLast=196196, and Lys289
Other Protein References for EIF2S3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for EIF2S3
- Novus Biologicals Antibodies for EIF2S3
-
Abcam antibodies for EIF2S3
- Invitrogen Antibodies for EIF2S3
- GeneTex EIF2S3 antibody for EIF2S3
Protein Products
-
OriGene Purified Proteins for EIF2S3
- Search Origene for MassSpec and Protein Over-expression Lysates for EIF2S3
- Origene Custom Protein Services for EIF2S3
- Novus Biologicals proteins for EIF2S3
- antibodies-online: Search results for 7 available EIF2S3 Proteins ranked by validation data
- Compare Top EIF2S3 Proteins
-
Quality Products:
- Search GeneTex for Proteins for EIF2S3
-
Abcam proteins for EIF2S3
Assay Products
- antibodies-online: Search results for 1 available EIF2S3 Elisa Kits ranked by validation data
- Compare Top EIF2S3 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for EIF2S3 Gene
Domains & Families for EIF2S3 Gene
Gene Families for EIF2S3 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for EIF2S3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for EIF2S3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P41091UniProtKB/Swiss-Prot:
IF2G_HUMAN :- Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EIF2G subfamily.
- Family:
-
- Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EIF2G subfamily.
Function for EIF2S3 Gene
Molecular function for EIF2S3 Gene
- GENATLAS Biochemistry:
- eukaryotic translocation initiation factor 2 gamma,escaping X-inactivation
- UniProtKB/Swiss-Prot Function:
- As a subunit of eukaryotic initiation factor 2 (eIF2), involved in the early steps of protein synthesis. In the presence of GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAi and then recruits the 40S ribosomal complex, a step that determines the rate of protein translation. This step is followed by mRNA binding to form the 43S pre-initiation complex. Junction of the 60S ribosomal subunit to form the 80S initiation complex is preceded by hydrolysis of the GTP bound to eIF2 and release of an eIF2-GDP binary complex. In order for eIF2 to recycle and catalyze another round of initiation, the GDP bound to eIF2 must exchange with GTP by way of a reaction catalyzed by eIF2B (By similarity). Along with its paralog on chromosome Y, may contribute to spermatogenesis up to the round spermatid stage (By similarity).
Phenotypes From GWAS Catalog for EIF2S3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003743 | translation initiation factor activity | IDA,IEA | 10900014 |
| GO:0003924 | GTPase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 16288713 |
| GO:0005525 | GTP binding | IEA | -- |
| GO:0008135 | translation factor activity, RNA binding | IDA | 10900014 |
Phenotypes for EIF2S3 Gene
- GenomeRNAi human phenotypes for EIF2S3:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for EIF2S3
-
-
ViGene Biosciences lentiviral particle packaged cDNA for EIF2S3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF2S3 gene
- Search ViGene Biosciences for EIF2S3
CRISPR Products
-
OriGene CRISPR knockouts for EIF2S3
- genomics-online: gRNA clones - Search results for available EIF2S3 gene related products
- Applied Biological Materials CRISPR for EIF2S3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EIF2S3
- GenScript: Design CRISPR guide RNA sequences for EIF2S3
miRNA for EIF2S3 Gene
- miRTarBase miRNAs that target EIF2S3
-
- hsa-mir-7-5p (MIRT025848)
- hsa-mir-98-5p (MIRT027622)
- hsa-mir-24-3p (MIRT030483)
- hsa-mir-331-3p (MIRT043305)
- hsa-mir-30c-5p (MIRT047883)
- hsa-mir-196a-5p (MIRT048212)
- hsa-mir-92a-3p (MIRT049409)
- hsa-mir-3613-3p (MIRT229558)
- hsa-mir-212-3p (MIRT259586)
- hsa-mir-132-3p (MIRT259587)
- hsa-mir-374a-5p (MIRT366531)
- hsa-mir-16-1-3p (MIRT366553)
- hsa-mir-144-3p (MIRT366555)
- hsa-mir-944 (MIRT366557)
- hsa-mir-5002-5p (MIRT366558)
- hsa-mir-6508-5p (MIRT366559)
- hsa-mir-8067 (MIRT366561)
- hsa-mir-218-5p (MIRT440739)
- hsa-mir-579-3p (MIRT564428)
- hsa-mir-4777-3p (MIRT564429)
- hsa-mir-4446-5p (MIRT564430)
- hsa-mir-542-3p (MIRT621190)
- hsa-mir-616-5p (MIRT621191)
- hsa-mir-373-5p (MIRT621192)
- hsa-mir-371b-5p (MIRT621193)
- hsa-mir-888-5p (MIRT621194)
- hsa-mir-758-3p (MIRT632962)
- hsa-mir-7977 (MIRT632963)
- hsa-mir-1294 (MIRT632964)
- hsa-mir-4316 (MIRT632965)
- hsa-mir-4284 (MIRT632966)
- hsa-mir-6809-5p (MIRT632967)
- hsa-mir-6089 (MIRT632968)
- hsa-mir-5008-5p (MIRT632969)
- hsa-mir-383-3p (MIRT632970)
- hsa-mir-4761-5p (MIRT632971)
- hsa-mir-6865-5p (MIRT632972)
- hsa-mir-6815-5p (MIRT632973)
- hsa-mir-665 (MIRT696350)
- hsa-mir-3678-3p (MIRT696351)
- hsa-mir-1273h-3p (MIRT696352)
- hsa-mir-6885-5p (MIRT696353)
- hsa-mir-328-5p (MIRT696354)
- hsa-mir-486-3p (MIRT696355)
- hsa-mir-7160-5p (MIRT696356)
- hsa-mir-4722-5p (MIRT696357)
- hsa-mir-2467-3p (MIRT696358)
- hsa-mir-6086 (MIRT696359)
- hsa-mir-377-5p (MIRT696360)
- hsa-mir-6884-5p (MIRT696361)
- hsa-mir-485-5p (MIRT696362)
- hsa-mir-1827 (MIRT696363)
- hsa-mir-4649-3p (MIRT696364)
- hsa-mir-4532 (MIRT696365)
- hsa-mir-4257 (MIRT696366)
- hsa-mir-4478 (MIRT696367)
- hsa-mir-4419b (MIRT696368)
- hsa-mir-3929 (MIRT696369)
- hsa-mir-940 (MIRT696370)
- hsa-mir-6893-5p (MIRT696371)
- hsa-mir-6808-5p (MIRT696372)
- hsa-mir-187-5p (MIRT738283)
- hsa-mir-221-3p (MIRT739068)
- hsa-mir-222-3p (MIRT739081)
- hsa-mir-3120-3p (MIRT739954)
- hsa-mir-323b-5p (MIRT741225)
- hsa-mir-3688-5p (MIRT742230)
- hsa-mir-3689a-5p (MIRT742307)
- hsa-mir-3689b-5p (MIRT742377)
- hsa-mir-3689e (MIRT742506)
- hsa-mir-3689f (MIRT742509)
- hsa-mir-410-5p (MIRT743235)
- hsa-mir-4276 (MIRT743669)
- hsa-mir-4470 (MIRT744945)
- hsa-mir-4474-3p (MIRT745007)
- hsa-mir-494-5p (MIRT749258)
- hsa-mir-511-3p (MIRT749740)
- hsa-mir-5190 (MIRT749919)
- hsa-mir-545-3p (MIRT750450)
- hsa-mir-548v (MIRT750805)
- hsa-mir-6867-5p (MIRT757942)
- hsa-mir-7108-5p (MIRT758924)
- hsa-mir-891a-3p (MIRT760436)
- hsa-mir-561-3p (MIRT774887)
- hsa-mir-5696 (MIRT775109)
- hsa-mir-664b-3p (MIRT777515)
- hsa-mir-6715b-3p (MIRT777681)
miRNA Products
- Search ViGene Biosciences for EIF2S3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for EIF2S3
- Browse OriGene Inhibitory RNA Products For EIF2S3
- genomics-online: shRNA clones - Search results for available EIF2S3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF2S3 gene
Clone Products
- Sino Biological Human cDNA Clone for EIF2S3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for EIF2S3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EIF2S3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available EIF2S3 gene related products
- orf clones - Search results for available EIF2S3 gene related products
- Applied Biological Materials Clones for EIF2S3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for EIF2S3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for EIF2S3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF2S3 gene
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EIF2S3 Gene
Localization for EIF2S3 Gene
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| nucleus | 2 |
| peroxisome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | NOT nucleus | IDA | 12426392 |
| GO:0005737 | cytoplasm | IDA | 12426392 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005850 | eukaryotic translation initiation factor 2 complex | IDA | 23063529 |
| GO:0070062 | extracellular exosome | IDA,HDA | 20458337 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for EIF2S3 Gene
Pathways & Interactions for EIF2S3 Gene
Pathways by source for EIF2S3 Gene
1 BioSystems pathway for EIF2S3 Gene
14 Reactome pathways for EIF2S3 Gene
1 KEGG pathway for EIF2S3 Gene
2 GeneGo (Thomson Reuters) pathways for EIF2S3 Gene
2 Qiagen pathways for EIF2S3 Gene
Interacting Proteins for EIF2S3 Gene
Selected Interacting proteins:
ENSP00000253039
P41091-IF2G_HUMAN
for EIF2S3 Gene via
STRING
MINT
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006412 | translation | IEA | -- |
| GO:0006413 | translational initiation | TAS | -- |
| GO:0055085 | transmembrane transport | TAS | -- |
No data available for SIGNOR curated interactions for EIF2S3 Gene
Transcripts for EIF2S3 Gene
mRNA/cDNA for EIF2S3 Gene
- (1) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (438) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for EIF2S3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for EIF2S3
- genomics-online: gRNA clones - Search results for available EIF2S3 gene related products
- Applied Biological Materials CRISPR for EIF2S3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for EIF2S3
- GenScript: Design CRISPR guide RNA sequences for EIF2S3
miRNA Products
- Search ViGene Biosciences for EIF2S3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for EIF2S3
- Browse OriGene Inhibitory RNA Products For EIF2S3
- genomics-online: shRNA clones - Search results for available EIF2S3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for EIF2S3 gene
Clone Products
- Sino Biological Human cDNA Clone for EIF2S3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for EIF2S3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EIF2S3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available EIF2S3 gene related products
- orf clones - Search results for available EIF2S3 gene related products
- Applied Biological Materials Clones for EIF2S3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for EIF2S3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Limb (Muscoskeletal System)
- Interzone Cells Stylopod Synovial Joint
- Autopod
- Stylopod Synovial Joint
- Stylopod
- Zeugopod
-
Cartilage (Muscoskeletal System)
- Interzone Cells Stylopod Synovial Joint
- Gut Tube (Gastrointestinal Tract)
-
Uterus (Reproductive System)
-
Ovary (Reproductive System)
This gene is overexpressed in Bone marrow stromal cell (9.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EIF2S3 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of EIF2S3 Gene:
EIF2S3SOURCE GeneReport for Unigene cluster for EIF2S3 Gene:
Hs.539684mRNA Expression by UniProt/SwissProt for EIF2S3 Gene:
P41091-IF2G_HUMAN
Tissue specificity:
Expressed in testis, brain, liver and muscle.
Evidence on tissue expression from TISSUES for EIF2S3 Gene
- Nervous system(4.9)
- Heart(4.4)
- Blood(4.3)
- Skin(2.4)
- Spleen(2.1)
- Kidney(2)
- Lung(2)
Primer Products
-
OriGene qPCR primer pairs for EIF2S3
-
OriGene qPCR primer pairs and template standards for EIF2S3
- genomics-online: primer clones - Search results for available EIF2S3 gene related products
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EIF2S3 Gene
Orthologs for EIF2S3 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
| EIF2S3 33 |
|
||||
| chimpanzee (Pan troglodytes) |
Mammalia | EIF2S3 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| EIF2S3 33 34 |
|
||||
| rat (Rattus norvegicus) |
Mammalia | Eif2s3x 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Eif2s3x 33 16 34 |
|
||
| chicken (Gallus gallus) |
Aves | EIF2S3 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | eif2s3 33 |
|
||
| Str.7629 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | eif2s3-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | eif2s3 33 34 |
|
||
| Dr.26653 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8958 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | eIF-2gamma 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP003597 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | Y39G10AR.8 35 34 |
|
||
| CELE_Y39G10AR.8 33 |
|
||||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GCD11 34 36 |
|
OneToMany | |
| thale cress (Arabidopsis thaliana) |
eudicotyledons | EIF2 GAMMA 33 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.16061 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os12g0607100 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for EIF2S3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for EIF2S3 Gene
(1) SIMAP similar genes for EIF2S3 Gene using alignment to 2 proteins:
Pseudogenes.org Pseudogenes for EIF2S3 Gene
Variants for EIF2S3 Gene
| SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057515578 | conflicting-interpretations-of-pathogenicity, MEHMO syndrome | 24,057,695(+) | T/A | coding_sequence_variant, missense_variant | |
| rs886040855 | pathogenic, MEHMO syndrome, Mental retardation, X-linked, syndromic, Borck type (MRXSBRK) [MIM:300987] | 24,064,228(+) | T/C | coding_sequence_variant, missense_variant | |
| rs886040856 | pathogenic, MEHMO syndrome, Mental retardation, X-linked, syndromic, Borck type (MRXSBRK) [MIM:300987] | 24,066,002(+) | T/G | coding_sequence_variant, missense_variant | |
| rs886040857 | pathogenic, likely-pathogenic, MEHMO syndrome, not provided | 24,076,757(+) | CAATCAA/CAA | coding_sequence_variant, frameshift | |
| rs11548543 | likely-benign, not specified | 24,073,174(+) | C/T | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2740010 | CNV | deletion | 23290073 |
| nsv524256 | CNV | gain | 19592680 |
Residual Variation Intolerance Score:
27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.68;
65.94% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EIF2S3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EIF2S3 Gene
Disorders for EIF2S3 Gene
(4) MalaCards diseases for EIF2S3 Gene - From: HGMD, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mehmo syndrome |
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| intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity |
|
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| syndromic intellectual disability |
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| microcephaly |
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Search EIF2S3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
IF2G_HUMAN- Mental retardation, X-linked, syndromic, Borck type (MRXSBRK) [MIM:300987]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSBRK patients manifest global developmental delay, short stature, microcephaly, poor or absent speech, and dysmorphic facial features. Additional features are growth hormone deficiency, hypogonadism, and spasticity resulting in difficulty walking or inability to walk. Thin corpus callosum and reduced white matter volume are observed on brain imaging. Inheritance is X-linked recessive. {ECO:0000269 PubMed:23063529, ECO:0000269 PubMed:27333055}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for EIF2S3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for EIF2S3 Gene
Publications for EIF2S3 Gene
- Characterization of genes encoding translation initiation factor eIF-2gamma in mouse and human: sex chromosome localization, escape from X-inactivation and evolution. (PMID: 9736774) Ehrmann IE … Scott DM (Human molecular genetics 1998) 2 3 4 58
- Translation initiation factor eIF-2. Cloning and expression of the human cDNA encoding the gamma-subunit. (PMID: 8106381) Gaspar NJ … Merrick WC (The Journal of biological chemistry 1994) 2 3 4 58
- EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. (PMID: 28055140) Skopkova M … Kalscheuer VM (Human mutation 2017) 3 4 58
- Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. (PMID: 27333055) Moortgat S … Maystadt I (American journal of medical genetics. Part A 2016) 3 4 58
- eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation. (PMID: 23063529) Borck G … Basel-Vanagaite L (Molecular cell 2012) 3 4 58
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