EIF2B5 - eukaryotic translation initiation factor 2B subunit epsilon Gene

Homo sapiens

Also known as CLE; CACH; LVWM; EIF-2B; EIF2Bepsilon

Gene ID: 8893 | Gene type: protein coding

About EIF2B5

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:184,135,358-184,145,311 (from NCBI)

This gene has 31 transcripts (splice variants), 200 orthologues, 3 paralogues and is associated with 7 phenotypes. Ubiquitous expression in lymph node (RPKM 12.1), spleen (RPKM 11.5) and 25 other tissues.

Summary

This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Nov 2009]

EIF2B5 Products(1)

mRNA	Protein	Name
NM_003907.3	NP_003898.2	translation initiation factor eIF-2B subunit epsilon

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
contributes to guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	11323413	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	25858979	GOA
enables guanyl-nucleotide exchange factor activity	IMP IMP: Inferred from mutant phenotype	15054402	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10481074	GOA
contributes to translation initiation factor activity	IDA IDA: Inferred from direct assay	16289705	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in T cell receptor signaling pathway	IDA IDA: Inferred from direct assay	8626696	GOA
involved in astrocyte development	IMP IMP: Inferred from mutant phenotype	15723074	GOA
involved in astrocyte differentiation	IMP IMP: Inferred from mutant phenotype	15723074	GOA
involved in cytoplasmic translational initiation	IDA IDA: Inferred from direct assay	27023709	GOA
involved in myelination	IMP IMP: Inferred from mutant phenotype	14566705	GOA
involved in oligodendrocyte development	IMP IMP: Inferred from mutant phenotype	15217090	GOA
involved in ovarian follicle development	IMP IMP: Inferred from mutant phenotype	15507143	GOA
involved in response to endoplasmic reticulum stress	IMP IMP: Inferred from mutant phenotype	16041584	GOA
involved in response to heat	IMP IMP: Inferred from mutant phenotype	15723074	GOA
involved in translational initiation	IDA IDA: Inferred from direct assay	16289705	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11323413	GOA
part of eukaryotic translation initiation factor 2B complex	IDA IDA: Inferred from direct assay	11323413	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

EIF2B5 Protein Structure

Hexapep

0
200
400
600
721 a.a.

Protein Preferred Names

Protein Names

translation initiation factor eIF-2B subunit epsilon

eIF-2B GDP-GTP exchange factor subunit epsilon

Related Diseases

Diseases

Alias

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

Leukodystrophy

Leukodystrophies

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Childhood Ataxia With Central Nervous System Hypomyelination / Vanishing White Matter

Cach/Vwm

Leukoencephalopathy With Vanishing White Matter

Leukodystrophy, Hypomyelinating, 5

Hypomyelination And Congenital Cataract	HLD5
Hypomyelination-Congenital Cataract Syndrome	Hypomyelinating Leukodystrophy 5
Hcc	Hypomyelination And Congenital Cataract: Hcc
Hypomyelination - Congenital Cataract	Hypomyelination With Congenital Cataract

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

Combined Oxidative Phosphorylation Deficiency 11

COXPD11	Combined Oxidative Phosphorylation Defect Type 11
Infantile Encephaloneuromyopathy Due To Mitochondrial Translation Defect	Encephaloneuromyopathy, Infantile, Due To Mitochondrial Translation Defect
Combined Oxidative Phosphorylation Deficiency, Type 11

Lidocaine Allergy

Lidoderm Allergy	Lignocaine Allergy
Xylocaine Allergy

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Combined Saposin Deficiency

Encephalopathy Due To Prosaposin Deficiency	Combined Sap Deficiency
PSAPD	Prosaposin Deficiency
Combined Prosaposin Deficiency	CSAPD
Saposin Deficiency, Combined

Megalencephalic Leukoencephalopathy With Subcortical Cysts 1

Van Der Knaap Disease	Leukoencephalopathy With Swelling And Cysts
MLC1	Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
Lvm	Vl
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1	Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1
Megalencephalic Leukoencephalopathy With Subcortical Cysts

Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1

Hereditary Diffuse Leukoencephalopathy With Spheroids	Adult-Onset Leukoencephalopathy With Axonal Spheroids And Pigmented Glia
Alsp	Gpsc
Subcortical Gliosis Of Neumann	Leukoencephalopathy, Diffuse Hereditary, With Spheroids 1
Autosomal Dominant Leukoencephalopathy With Neuroaxonal Spheroids	Hdls
HDLS1	Leukoencephalopathy, Adult-Onset, With Axonal Spheroids And Pigmented Glia
Gliosis, Familial Progressive Subcortical	Leukoencephalopathy, Diffuse Hereditary, With Spheroids
Pold	Pigmentary Orthochromatic Leukodystrophy
Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids And Pigmented Glia	Familial Progressive Subcortical Gliosis
Leukoencephalopathy With Neuroaxonal Spheroids, Autosomal Dominant	Dementia, Familial, Neumann Type
Adult-Onset Leukodystrophy With Neuroaxonal Spheroids	Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids
Neuroaxonal Leukodystrophy	Fpsg
Familial Dementia, Neumann Type	Familial Dementia Neumann Type
Leukoencephalopathy, Diffuse Hereditary, With Spheroid

Pelizaeus-Merzbacher Disease

PMD	HLD1
Pelizaeus-Merzbacher Brain Sclerosis	Leukodystrophy, Hypomyelinating, 1
Diffuse Familial Brain Sclerosis	Pelizaeus Merzbacher Brain Sclerosis
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type	Cockayne-Pelizaeus-Merzbacher Disease
Hypomyelinating Leukodystrophy 1	Leukodystrophy, Sudanophilic
Pelizaeus Merzbacher Disease	Hypomyelinating Leukodystrophy, 1
Sudanophilic Leukodystrophy	Pelizaeus-Merzbacher Disease, Connatal Form
Connatal Pmd	Pelizaeus-Merzbacher Disease Type Ii
Severe Pmd	Null Syndrome
Plp1 Null Syndrome	Pelizaeus-Merzbacher Disease, Null Syndrome
Brain Sclerosis Diffuse Familial	Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
Leukodystrophy Hypomyelinating 1	Diffuse Cerebral Sclerosis Of Schilder

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-RS04252	EIF2B5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	EIF2B5	MGD	MGI:2446176
Macaca mulatta	EIF2B5	VGNC	VGNC:72186
Rattus norvegicus	EIF2B5	RGD	RGD:708380
Felis catus	EIF2B5	VGNC	VGNC:61777
Bos taurus	EIF2B5	VGNC	VGNC:28388
Canis familiaris	EIF2B5	VGNC	VGNC:40264

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