EIF2B5 - eukaryotic translation initiation factor 2B subunit epsilon Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8893

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	References	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	References	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	References	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

EIF2B5 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82058	eIF2B5 Antibody (YA1803)	WB, IHC-P, ICC/IF	Human

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

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 Set	/	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
Others	EIF2B5	NCBI