EIF2B4 - eukaryotic translation initiation factor 2B subunit delta Gene

Homo sapiens

Also known as EIF2B; EIF-2B; EIF2Bdelta

Gene ID: 8890 | Gene type: protein coding

About EIF2B4

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,364,352-27,370,338 (from NCBI)

This gene has 10 transcripts (splice variants), 206 orthologues, 3 paralogues and is associated with 7 phenotypes. Ubiquitous expression in testis (RPKM 20.0), prostate (RPKM 13.7) and 25 other tissues.

Summary

Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

EIF2B4 Products(8)

mRNA	Protein	Name
NM_001034116.2	NP_001029288.1	translation initiation factor eIF-2B subunit delta isoform 2
NM_001318965.2	NP_001305894.1	translation initiation factor eIF-2B subunit delta isoform 4
NM_001318966.2	NP_001305895.1	translation initiation factor eIF-2B subunit delta isoform 5
NM_001318967.2	NP_001305896.1	translation initiation factor eIF-2B subunit delta isoform 6
NM_001318968.2	NP_001305897.1	translation initiation factor eIF-2B subunit delta isoform 7
NM_001318969.2	NP_001305898.1	translation initiation factor eIF-2B subunit delta isoform 8
NM_015636.4	NP_056451.3	translation initiation factor eIF-2B subunit delta isoform 3
NM_172195.4	NP_751945.2	translation initiation factor eIF-2B subunit delta isoform 1

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
contributes to guanyl-nucleotide exchange factor activity	IMP IMP: Inferred from mutant phenotype	15054402	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15060152	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 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 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

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

EIF2B4 Protein Structure

IF-2B

0
100
200
300
400
523 a.a.

Protein Preferred Names

Protein Names

translation initiation factor eIF-2B subunit delta

eIF-2B GDP-GTP exchange factor subunit delta

EIF2B4 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EIF2B4	Q9UI10	KLKB1	Homo sapiens	P03952	Y2H Array	32814053
Intra	EIF2B4	Q9UI10	KLKB1	Homo sapiens	P03952	Y2H Pooling	32814053
Intra	EIF2B4	Q9UI10	KLKB1	Homo sapiens	P03952	Validated Y2H	32814053
Intra	EIF2B4	Q9UI10	EIF2B2	Homo sapiens	Q53XC2	Y2H Prey Pooling	25416956
Intra	EIF2B4	Q9UI10	EIF2B2	Homo sapiens	Q53XC2	Validated Y2H	25416956
Intra	EIF2B4	Q9UI10	EIF2B2	Homo sapiens	Q53XC2	Y2H Array	25416956
Intra	EIF2B4	Q9UI10	UQCRC1	Homo sapiens	P31930	Validated Y2H	32814053
Intra	EIF2B4	Q9UI10	UQCRC1	Homo sapiens	P31930	Y2H Array	32814053
Intra	EIF2B4	Q9UI10	UQCRC1	Homo sapiens	P31930	Y2H Pooling	32814053
Intra	EIF2B4	Q9UI10	GATM	Homo sapiens	P50440	Validated Y2H	32814053
Intra	EIF2B4	Q9UI10	GATM	Homo sapiens	P50440	Y2H Pooling	32814053
Intra	EIF2B4	Q9UI10	GATM	Homo sapiens	P50440	Y2H Array	32814053
Intra	EIF2B4	Q9UI10	GRB2	Homo sapiens	P62993	Validated Y2H	32814053
Intra	EIF2B4	Q9UI10	GRB2	Homo sapiens	P62993	Y2H Array	32814053
Intra	EIF2B4	Q9UI10	GRB2	Homo sapiens	P62993	Y2H Pooling	32814053
Intra	EIF2B4	Q9UI10	LPL	Homo sapiens	P06858	Y2H Array	32814053
Intra	EIF2B4	Q9UI10	LPL	Homo sapiens	P06858	Y2H Pooling	32814053
Intra	EIF2B4	Q9UI10	LPL	Homo sapiens	P06858	Validated Y2H	32814053
Intra	EIF2B4	Q9UI10	EIF2B2	Homo sapiens	P49770	Validated Y2H	25910212
Intra	EIF2B4	Q9UI10	EIF2B2	Homo sapiens	P49770	Y2H Array	31515488
Intra	EIF2B4	Q9UI10	EIF2B2	Homo sapiens	P49770	Y2H Bait-Prey Pool	25910212
Intra	EIF2B4	Q9UI10	EIF2B2	Homo sapiens	P49770	Y2H Array	25910212
Intra	EIF2B4	Q9UI10	EIF2B2	Homo sapiens	P49770	Y2H Prey Pooling	32296183
Intra	EIF2B4	Q9UI10	EIF2B2	Homo sapiens	P49770	Y2H Array	32296183
Intra	EIF2B4	Q9UI10	FOS	Homo sapiens	P01100	Y2H Pooling	32814053
Intra	EIF2B4	Q9UI10	FOS	Homo sapiens	P01100	Validated Y2H	32814053
Intra	EIF2B4	Q9UI10	FOS	Homo sapiens	P01100	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Childhood Ataxia With Central Nervous System Hypomyelination / Vanishing White Matter

Cach/Vwm

Leukoencephalopathy With Vanishing White Matter

Leukodystrophy

Leukodystrophies

Glycogen Storage Disease Xv

GSD15	Gsd Xv
Glycogenin Deficiency	Gyg1 Deficiency
Glycogen Storage Disease Type Xv	Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Gsd Type 15	Gsd Type Xv
Gsd With Severe Cardiomyopathy Due To Glycogenin Deficiency	Glycogen Storage Disease Type 15
Glycogenosis Type 15	Glycogenosis Type Xv
Glycogenosis With Severe Cardiomyopathy Due To Glycogenin Deficiency	Glycogen Storage Disease 15
Storage Disease, Glycogen, Type Xv

Leukodystrophy, Hypomyelinating, 13

Hypomyelinating Leukodystrophy 13	HLD13
C11orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy	C11orf73-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy
Hypomyelinating Leukodystrophy Due To Hikeshi Deficiency

Combined Saposin Deficiency

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

Spastic Ataxia 8

Leukodystrophy, Hypomyelinating, 12

Hypomyelinating Leukodystrophy 12	HLD12
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Vps11-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy

Hemangioma Of Intra-Abdominal Structure

Hemangioma Of Intra-Abdominal Structures

Hemangioma, Intra-Abdominal

Leukodystrophy, Hypomyelinating, 9

Hypomyelinating Leukodystrophy 9	HLD9
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Leukodystrophy, Hypomyelinating, Type 9

Leukodystrophy, Hypomyelinating, 10

Hypomyelinating Leukodystrophy 10	HLD10
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Leukodystrophy, Hypomyelinating, Type 10

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, 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

Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism

HLD7	Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome
Addh	Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism
4h Syndrome	4h Leukodystrophy 1
Hypomyelinating Leukodystrophy 7 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism	Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome
Leukodystrophy With Oligodontia	Tach Syndrome
Tremor-Ataxia-Central Hypomyelination Syndrome	Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition
Ataxia, Delayed Dentition, And Hypomyelination	Ataxia-Delayed Dentition-Hypomyelination Syndrome
Odontoleukodystrophy	Dentoleukoencephalopathy
Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome	Ataxia-Delayed Dentition-Hypomyelination Syndrome
Ataxia Delayed Dentition And Hypomyelination	Leukodystrophy Hypomyelinating With Hypodontia And Hypogonadotropic Hypogonadism 4h Syndrome
Leukoencephalopathy Hypomyelinating With Ataxia And Delayed Dentition	Tach
Tremor-Ataxia With Central Hypomyelination	Attention Deficit Hyperactivity Disorder
Leukodystrophy, Dysmyelinating, With Oligodontia

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease

Pcwh Syndrome	PCWH
Neurologic Waardenburg-Shah Syndrome	Waardenburg-Shah Syndrome, Neurologic Variant
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome	Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ws4 Plus	Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease
Waardenburg-Shah Syndrome Neurologic Variant

Cerebral Degeneration

Brain Degeneration

Degenerative Brain 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-RS04251	EIF2B4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	EIF2B4	MGD	MGI:95300
Rattus norvegicus	EIF2B4	RGD	RGD:620208
Canis familiaris	EIF2B4	VGNC	VGNC:40263
Felis catus	EIF2B4	VGNC	VGNC:61776
Bos taurus	EIF2B4	VGNC	VGNC:28387
Macaca mulatta	EIF2B4	VGNC	VGNC:72185

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