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EIF2S3 - eukaryotic translation initiation factor 2 subunit gamma Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1968

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	References	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	References	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	References	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

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 Set	/	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