EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma)

2014-11-01 Affiliation

Identity

HGNC

EIF2S3

LOCATION

Xp22.11

LOCUSID

1968

ALIAS

EIF2,EIF2G,EIF2gamma,MEHMO,MRXSBRK,eIF-2gA

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1968
MIM: 300161
HGNC: 3267
Ensembl: ENSG00000130741

Variants:

dbSNP: 1968
ClinVar: 1968
TCGA: ENSG00000130741
COSMIC: EIF2S3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000130741	ENST00000253039	P41091
ENSG00000130741	ENST00000423068	H7BZU1

Expression (GTEx)

100

150

200

250

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
RNA transport	KEGG	ko03013
RNA transport	KEGG	hsa03013
Metabolism of proteins	REACTOME	R-HSA-392499
Translation	REACTOME	R-HSA-72766
Eukaryotic Translation Initiation	REACTOME	R-HSA-72613
Cap-dependent Translation Initiation	REACTOME	R-HSA-72737
Formation of the ternary complex, and subsequently, the 43S complex	REACTOME	R-HSA-72695
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	REACTOME	R-HSA-72662
Translation initiation complex formation	REACTOME	R-HSA-72649
Ribosomal scanning and start codon recognition	REACTOME	R-HSA-72702
GTP hydrolysis and joining of the 60S ribosomal subunit	REACTOME	R-HSA-72706
Recycling of eIF2:GDP	REACTOME	R-HSA-72731
L13a-mediated translational silencing of Ceruloplasmin expression	REACTOME	R-HSA-156827
Gene Expression	REACTOME	R-HSA-74160
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
ABC-family proteins mediated transport	REACTOME	R-HSA-382556

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
23063529	2012	eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation.	24
19723899	2009	Association of the X-chromosomal genes TIMP1 and IL9R with rheumatoid arthritis.	11
27333055	2016	Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.	9
28055140	2017	EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.	9
29303605	2018	Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome.	3
30517694	2019	MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2.	3
30878599	2019	Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.	2

Citation

Dessen P

EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62778/eif2s3