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Details of EIF2B4 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| EIF2B4 | EIF2BD | Q9UI10 | EI2BD_HUMAN | 8890 | ENSG00000115211 | Translation initiation factor eIF-2B subunit delta | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Leukodystrophy with vanishing white matter (VWM) [MIM:603896]: A leukodystrophy that occurs mainly in children. Neurological signs include progressive cerebellar ataxia, spasticity, inconstant optic atrophy and relatively preserved mental abilities. The disease is chronic-progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. While childhood onset is the most common form of the disorder, some severe forms are apparent at birth. A severe, early-onset form seen among the Cree and Chippewayan populations of Quebec and Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident until adolescence or adulthood. Some females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy. Note=The disease is caused by mutations affecting the gene represented in this entry. | 603896 | ||||||||
Phenotypes
Abnormal axial skeleton morphology, Abnormal CNS myelination, Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormal internal genitalia, Abnormality of central motor function, Abnormality of female internal genitalia, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of temperature regulation, Abnormality of the central nervous system, Abnormality of the cerebrum, Abnormality of the endocrine system, Abnormality of the eye, Abnormality of the female genitalia, Abnormality of the forebrain, Abnormality of the fundus, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the glial cells, Abnormality of the head, Abnormality of the menstrual cycle, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the optic nerve, Abnormality of the ovary, Abnormality of the posterior segment of the eye, Abnormality of the skeletal system, Abnormality of the skull, Abnormality of vision, Abnormal muscle tone, Adult onset, Age of onset, All, Amenorrhea, Apathy, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Autosomal recessive inheritance, Behavioural/Psychiatric Abnormality, Blindness, Cessation of head growth, Cognitive impairment, Decreased serum progesterone, Delusions, Developmental regression, Dysarthria, Emotional lability, Fever, Gait disturbance, Gliosis, Hypertonia, Hypomyelination, Late onset, Lethargy, Macrocephaly, Microcephaly, Mode of inheritance, Morphological abnormality of the central nervous system, Muscular hypotonia, Neurological speech impairment, Onset, Onset and clinical course, Optic atrophy, Personality changes, Phenotypic abnormality, Postnatal microcephaly, Premature ovarian failure, Primary amenorrhea, Primary gonadal insufficiency, Puberty and gonadal disorders, Reduced consciousness/confusion, Secondary amenorrhea, Seizures, Spasticity, Unsteady gait, Visual impairment.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Eif2b4 | eIF2B-delta | F11A3.2 | Sp-Eif2Bd | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| EIF2B4 | EIF2B1 | 1 | EIF2B4 | EIF2B1 | cpx195 | no | yes | yes | Known |
| EIF2B3 | EIF2B4 | 1 | EIF2B3 | EIF2B4 | cpx195 | no | yes | yes | Known |
| EIF2B2 | EIF2B4 | 1 | EIF2B2 | EIF2B4 | cpx195 | no | yes | yes | Known |
| EIF2B5 | EIF2B4 | 1 | EIF2B5 | EIF2B4 | cpx195 | no | yes | yes | Known |