EIF2B3 - eukaryotic translation initiation factor 2B subunit gamma Gene

Also Known as EIF-2B; EIF2Bgamma

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8891

About EIF2B3

Cytogenetic location: 1p34.1 Genomic coordinates (GRCh38): 1:44,850,522-44,986,595 (from NCBI)

This gene has 10 transcripts (splice variants), 211 orthologues, 3 paralogues and is associated with 6 phenotypes. Ubiquitous expression in fat (RPKM 9.9), testis (RPKM 8.8) and 25 other tissues.

Summary

The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

EIF2B3 Products (3)

mRNA	Protein	Name
NM_001166588.3	NP_001160060.1	translation initiation factor eIF-2B subunit gamma isoform 2
NM_001261418.2	NP_001248347.1	translation initiation factor eIF-2B subunit gamma isoform 3
NM_020365.5	NP_065098.1	translation initiation factor eIF-2B subunit gamma isoform 1

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
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 factor activity, RNA binding	IDA IDA: Inferred from direct assay	10900014	GOA
contributes to translation initiation factor activity	IDA IDA: Inferred from direct assay	10900014	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 cytoplasmic translational initiation	IDA IDA: Inferred from direct assay	27023709	GOA
involved in oligodendrocyte development	IMP IMP: Inferred from mutant phenotype	15217090	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	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

EIF2B3 Protein Structure

NTP_transferase

0
100
200
300
400
452 a.a.

Protein Preferred Names	Protein Names
translation initiation factor eIF-2B subunit gamma	eIF-2B GDP-GTP exchange factor subunit gamma

EIF2B3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84822	EI2BG Antibody (YA4519)	WB, IHC-P, ICC/IF, FC	Human
HY-P84822A	EI2BG Antibody (YA4519)(PBS only)	WB, IHC-P, ICC/IF, FC	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
Childhood Ataxia With Central Nervous System Hypomyelination / Vanishing White Matter	Cach/Vwm Leukoencephalopathy With Vanishing White Matter
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
Spastic Ataxia 8
Combined Saposin Deficiency	Encephalopathy Due To Prosaposin Deficiency Combined Sap Deficiency PSAPD Prosaposin Deficiency Combined Prosaposin Deficiency CSAPD Saposin Deficiency, Combined
Hepatitis C Virus	Hepatitis C Virus, Susceptibility To Hepatitis C Virus Infection, Response To Therapy Of Hcv Hcv, Susceptibility To Hepatitis C Virus, Resistance To Hepatitis C Virus, Response To Therapy Of Resistance To Hepatitis C Virus
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, 11	Hypomyelinating Leukodystrophy 11 HLD11 4h Leukodystrophy 3 Leukodystrophy, Hypomyelinating, Type 11
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
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
Hypotonia-Cystinuria Syndrome	Cystinuria With Mitochondrial Disease 2p21 Microdeletion Syndrome HCS Homozygous 2p16 Deletion Syndrome, Formerly 2p21 Deletion Syndrome Del(2)(P21) Monosomy 2p21 Atypical Hypotonia-Cystinuria Syndrome Atypical Hcs
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

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-RS04250	EIF2B3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EIF2B3	VGNC	VGNC:40262
Rattus norvegicus	EIF2B3	RGD	RGD:620821
Mus musculus	EIF2B3	MGD	MGI:1313286
Macaca mulatta	EIF2B3	VGNC	VGNC:72184
Bos taurus	EIF2B3	VGNC	VGNC:28386
Felis catus	EIF2B3	VGNC	VGNC:61775
Others	EIF2B3	NCBI