EIF2S3 - eukaryotic translation initiation factor 2 subunit gamma Gene

Homo sapiens

Also known as EIF2; EIF2G; MEHMO; MRXSBRK; eIF-2gA; EIF2gamma

Gene ID: 1968 | Gene type: protein coding

About EIF2S3

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:24,054,956-24,078,810 (from NCBI)

This gene has 5 transcripts (splice variants), 158 orthologues, 18 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 61.4), lymph node (RPKM 53.4) and 25 other tissues.

Summary

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]

EIF2S3 Products(1)

mRNA	Protein	Name
NM_001415.4	NP_001406.1	eukaryotic translation initiation factor 2 subunit 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16288713	GOA
enables translation factor activity, RNA binding	IDA IDA: Inferred from direct assay	10900014	GOA
enables translation initiation factor activity	IDA IDA: Inferred from direct assay	10900014	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cytoplasmic translational initiation	IMP IMP: Inferred from mutant phenotype	31836389	GOA
involved in translational initiation	IDA IDA: Inferred from direct assay	10900014	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	12426392	GOA
part of eukaryotic translation initiation factor 2 complex	IDA IDA: Inferred from direct assay	23063529	GOA
part of eukaryotic translation initiation factor 2 complex	IPI IPI: Inferred from physical interaction	31836389	GOA
NOT located in nucleus	IDA IDA: Inferred from direct assay	12426392	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EIF2S3 Protein Structure

GTP_EFTU

GTP_EFTU_D2

eIF2_C

0
100
200
300
400
472 a.a.

Protein Preferred Names

Protein Names

eukaryotic translation initiation factor 2 subunit 3

eIF-2-gamma X

EIF2S3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EIF2S3	P41091	EIF2S1	Homo sapiens	P05198	Anti Tag CoIP	35271311
Intra	EIF2S3	P41091	EIF2S1	Homo sapiens	P05198	ELISA	16288713
Intra	EIF2S3	P41091	OTUD7B	Homo sapiens	Q6GQQ9-2	Y2H Array	32814053
Intra	EIF2S3	P41091	OTUD7B	Homo sapiens	Q6GQQ9-2	Y2H Pooling	32814053
Intra	EIF2S3	P41091	OTUD7B	Homo sapiens	Q6GQQ9-2	Validated Y2H	32814053
Intra	EIF2S3	P41091	RASSF1	Homo sapiens	Q9NS23-4	Validated Y2H	32814053
Intra	EIF2S3	P41091	RASSF1	Homo sapiens	Q9NS23-4	Y2H Array	32814053
Intra	EIF2S3	P41091	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	EIF2S3	P41091	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	EIF2S3	P41091	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	EIF2S3	P41091	MAP3K5	Homo sapiens	Q99683	Validated Y2H	32814053
Intra	EIF2S3	P41091	MAP3K5	Homo sapiens	Q99683	Y2H Array	32814053
Intra	EIF2S3	P41091	MAP3K5	Homo sapiens	Q99683	Y2H Pooling	32814053
Intra	EIF2S3	P41091	EIF2S2	Homo sapiens	P20042	Anti Tag CoIP	35271311
Intra	EIF2S3	P41091	EIF2S2	Homo sapiens	P20042	ELISA	16288713

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Mehmo Syndrome

Mental Retardation, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity	MEHMO
Mrxs20	Mrxs25
X-Linked Intellectual Disability-Epileptic Seizures-Hypogenitalism-Microcephaly-Obesity Syndrome	Mrxsbrk
Mental Retardation, X-Linked, Syndromic 20	Mental Retardation, X-Linked, Syndromic 25
Mental Retardation, X-Linked, Syndromic, Borck Type	Syndromic X-Linked Mental Retardation 20
Syndromic X-Linked Mental Retardation 25	Intellectual Disability, Epileptic Seizures, Hypogonadism And Hypogenitalism, Microcephaly, And Obesity
X-Linked Mehmo Syndrome

Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy	Vanishing White Matter Disease
Ovarioleukodystrophy	Vanishing White Matter Leukodystrophy
Childhood Ataxia With Central Nervous System Hypomyelinization	Cach
Cach Syndrome	Myelinosis Centralis Diffusa
VWM	Cle
Childhood Ataxia With Central Nervous System Hypomyelination	Childhood Ataxia With Diffuse Central Nervous System Hypomyelination
Cach/Vwm	Cach/Vwm Syndrome
Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter	Cree Leukoencehalopathy
Late Infantile Cach Syndrome	Juvenile Or Adult Cach Syndrome
Congenital Or Early Infantile Cach Syndrome	Leukodystrophy With Vanishing White Matter

Hypopituitarism

Pituitary Hypofunction	Pituitary Insufficiency
Pituitary Hormone Deficiency	Subpituitarism
Hypophyseal Dystrophy	Hypohypophysism
Anterior Pituitary Insufficiency	Deficient Secretion Of One Or More Pituitary Hormones
Hypopituitarism Syndrome	Pituitary Deficiency
Pituitary Failure	Pituitary Insufficiency Nos
Anterior Pituitary Hypofunction	Deficient Secretion Of All Pituitary Hormones
Hypopituitary Dwarfism	Hyposomatotropic Dwarfism
Hypophyseal Dwarfism	Hypopituitary Cachexia
Hypophyseal Short Stature	Panhypopituitarism Syndrome
Pituitary Cachexia	Juvenile Hypopituitarism
Pituitary Dwarfism	Pituitary Gland Hypofunction
Primary Hypopituitarism	Secondary Hypogonadism
Prepubertal Panhypopituitarism	Prepubertal Dwarfism
Postpartum Panhypopituitary Syndrome	Postpartum Hypopituitarism
Pituitary Short Stature	Pituitary Infantilism
Pituitary Hypogonadism	Pituitary Hypoadrenocorticism

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Syndromic Intellectual Disability

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04256	EIF2S3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EIF2S3	VGNC	VGNC:54137
Rattus norvegicus	EIF2S3	RGD	RGD:1561279
Mus musculus	EIF2S3	MGD	MGI:1349431

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