EIF2B2 - eukaryotic translation initiation factor 2B subunit beta Gene

Homo sapiens

Also known as EIF2B; EIF2Bbeta; EIF-2Bbeta

Gene ID: 8892 | Gene type: protein coding

About EIF2B2

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:75,002,921-75,012,366 (from NCBI)

This gene has 7 transcripts (splice variants), 214 orthologues, 3 paralogues and is associated with 7 phenotypes. Ubiquitous expression in thyroid (RPKM 32.7), adrenal (RPKM 18.1) and 25 other tissues.

Summary

This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]

EIF2B2 Products(1)

mRNA	Protein	Name
NM_014239.4	NP_055054.1	translation initiation factor eIF-2B subunit beta

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP binding	IDA IDA: Inferred from direct assay	11323413	GOA
enables GTP binding	IDA IDA: Inferred from direct assay	11323413	GOA
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 central nervous system development	IMP IMP: Inferred from mutant phenotype	15776425	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

EIF2B2 Protein Structure

IF-2B

0
100
200
300
351 a.a.

Protein Preferred Names

Protein Names

translation initiation factor eIF-2B subunit beta

S20I15

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

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

Leukodystrophy

Leukodystrophies

Childhood Ataxia With Central Nervous System Hypomyelination / Vanishing White Matter

Cach/Vwm

Leukoencephalopathy With Vanishing White Matter

Rett Syndrome

Atypical Rett Syndrome	RTT
Rett Disorder	Rts
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use	Rett Syndrome, Preserved Speech Variant
Rett Syndrome, Atypical	Rett'S Disorder
Rett Syndrome Variant	Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
Cerebroatrophic Hyperammonemia	Rett Like Syndrome
Rett'S Syndrome	Atypical Rtt
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use	Rett Syndrome Preserved Speech Variant
Rett Syndrome Zappella Variant	Rett Syndrome, Zappella Variant

Bardet-Biedl Syndrome 8

BBS8	Bardet-Biedl Syndrome, Type 8

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome	Deafness-Hermann Type Symphalangism Syndrome
Facio-Audio-Symphalangism	Hearing Loss-Hermann Type Symphalangism Syndrome
Wl Syndrome	Multiple Synostosis Syndrome

Spastic Ataxia 4

Combined Saposin Deficiency

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

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

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

Developmental And Epileptic Encephalopathy 27

DEE27	Epileptic Encephalopathy, Early Infantile, 27
Eiee27	Developmental And Epileptic Encephalopathy, 27
Early Infantile Epileptic Encephalopathy 27	Encephalopathy, Developmental And Epileptic, Type 27

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

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

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

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

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-RS04249	EIF2B2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EIF2B2	RGD	RGD:620820
Felis catus	EIF2B2	VGNC	VGNC:61774
Macaca mulatta	EIF2B2	VGNC	VGNC:72183
Bos taurus	EIF2B2	VGNC	VGNC:28385
Mus musculus	EIF2B2	MGD	MGI:2145118
Canis familiaris	EIF2B2	VGNC	VGNC:40261

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