EIF2B4 - eukaryotic translation initiation factor 2B subunit delta Gene
Also Known as EIF2B; EIF-2B; EIF2Bdelta
Species: Homo sapiens
About EIF2B4
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 |
| 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 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 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 |
EIF2B4 Protein Structure
IF-2B: Initiation factor 2 subunit family (219 - 508)
- 0
- 100
- 200
- 300
- 400
- 500
- 523 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
translation initiation factor eIF-2B subunit delta |
|
EIF2B4 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
EIF2B4 | Q9UI10 | KLKB1 | Homo sapiens | P03952 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | KLKB1 | Homo sapiens | P03952 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | KLKB1 | Homo sapiens | P03952 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | EIF2B2 | Homo sapiens | Q53XC2 | 25416956 | |
|
Intra
|
EIF2B4 | Q9UI10 | EIF2B2 | Homo sapiens | Q53XC2 | 25416956 | |
|
Intra
|
EIF2B4 | Q9UI10 | EIF2B2 | Homo sapiens | Q53XC2 | 25416956 | |
|
Intra
|
EIF2B4 | Q9UI10 | UQCRC1 | Homo sapiens | P31930 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | UQCRC1 | Homo sapiens | P31930 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | UQCRC1 | Homo sapiens | P31930 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | GATM | Homo sapiens | P50440 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | GATM | Homo sapiens | P50440 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | GATM | Homo sapiens | P50440 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | GRB2 | Homo sapiens | P62993 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | GRB2 | Homo sapiens | P62993 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | GRB2 | Homo sapiens | P62993 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | LPL | Homo sapiens | P06858 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | LPL | Homo sapiens | P06858 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | LPL | Homo sapiens | P06858 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | EIF2B2 | Homo sapiens | P49770 | 25910212 | |
|
Intra
|
EIF2B4 | Q9UI10 | EIF2B2 | Homo sapiens | P49770 | 31515488 | |
|
Intra
|
EIF2B4 | Q9UI10 | EIF2B2 | Homo sapiens | P49770 | 25910212 | |
|
Intra
|
EIF2B4 | Q9UI10 | EIF2B2 | Homo sapiens | P49770 | 25910212 | |
|
Intra
|
EIF2B4 | Q9UI10 | EIF2B2 | Homo sapiens | P49770 | 32296183 | |
|
Intra
|
EIF2B4 | Q9UI10 | EIF2B2 | Homo sapiens | P49770 | 32296183 | |
|
Intra
|
EIF2B4 | Q9UI10 | FOS | Homo sapiens | P01100 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | FOS | Homo sapiens | P01100 | 32814053 | |
|
Intra
|
EIF2B4 | Q9UI10 | FOS | Homo sapiens | P01100 | 32814053 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Leukoencephalopathy With Vanishing White Matter |
|
|
| Childhood Ataxia With Central Nervous System Hypomyelination / Vanishing White Matter |
|
|
| Leukodystrophy |
|
|
| Glycogen Storage Disease Xv |
|
|
| Leukodystrophy, Hypomyelinating, 13 |
|
|
| Combined Saposin Deficiency |
|
|
| Spastic Ataxia 8 |
|
|
| Leukodystrophy, Hypomyelinating, 12 |
|
|
| Hemangioma Of Intra-Abdominal Structure |
|
|
| Leukodystrophy, Hypomyelinating, 9 |
|
|
| Leukodystrophy, Hypomyelinating, 10 |
|
|
| Mehmo Syndrome |
|
|
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
|
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
|
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
|
| Cerebral Degeneration |
|
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 |
| Others | EIF2B4 | NCBI |