1. Gene
  2. EIF2B3 - eukaryotic translation initiation factor 2B subunit gamma Gene

EIF2B3 - eukaryotic translation initiation factor 2B subunit gamma Gene

Homo sapiens

Also known as EIF-2B; EIF2Bgamma

Gene ID: 8891 | Gene type: protein coding

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

EIF2B3 Protein Structure

NTP_transferase

NTP_transferase: Nucleotidyl transferase (5 - 127)

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  • 452 a.a.
Protein Preferred Names Protein Names

translation initiation factor eIF-2B subunit gamma

eIF-2B GDP-GTP exchange factor subunit gamma

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

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