EIF2B2 - eukaryotic translation initiation factor 2B subunit beta Gene

Also Known as EIF2B; EIF2Bbeta; EIF-2Bbeta

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8892

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	References	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	References	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	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

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

EIF2B2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EIF2B2	P49770	EIF2B4	Homo sapiens	Q9UI10	Anti Tag CoIP	33961781
Intra	EIF2B2	P49770	EIF2B4	Homo sapiens	Q9UI10	Validated Y2H	32296183
Intra	EIF2B2	P49770	C9orf72	Homo sapiens	Q96LT7	Y2H	21516116
Intra	EIF2B2	P49770	C9orf72	Homo sapiens	Q96LT7	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

EIF2B2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89912	eIF2Bβ Antibody (YA9256)	WB, ICC/IF, IF-Tissue, IHC-P, IP, ELISA	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
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

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 Set	/	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
Others	EIF2B2	NCBI