ENSG00000145191


Homo sapiens

Features
Gene ID: ENSG00000145191
  
Biological name :EIF2B5
  
Synonyms : EIF2B5 / eukaryotic translation initiation factor 2B subunit epsilon / Q13144
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: q27.1
Gene start: 184135038
Gene end: 184145311
  
Corresponding Affymetrix probe sets: 1558050_at (Human Genome U133 Plus 2.0 Array)   212351_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000414775
Ensembl peptide - ENSP00000273783
Ensembl peptide - ENSP00000408198
NCBI entrez gene - 8893     See in Manteia.
OMIM - 603945
RefSeq - XM_011513266
RefSeq - NM_003907
RefSeq - XM_011513265
RefSeq Peptide - NP_003898
swissprot - Q13144
swissprot - H7C2X0
swissprot - C9JRD9
Ensembl - ENSG00000145191
  
Related genetic diseases (OMIM): 603896 - Leukoencephalopathy with vanishing white matter, 603896
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 eif2b5ENSDARG00000074995Danio rerio
 EIF2B5ENSGALG00000008376Gallus gallus
 Eif2b5ENSMUSG00000003235Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001451  Hexapeptide repeat
 IPR003307  W2 domain
 IPR011004  Trimeric LpxA-like superfamily
 IPR016024  Armadillo-type fold
 IPR029044  Nucleotide-diphospho-sugar transferases
 IPR035543  Translation initiation factor eIF-2B subunit epsilon, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001541 ovarian follicle development IMP
 biological_processGO:0006412 translation IEA
 biological_processGO:0006413 translational initiation IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0009408 response to heat IEA
 biological_processGO:0009749 response to glucose IEA
 biological_processGO:0010226 response to lithium ion IEA
 biological_processGO:0014002 astrocyte development IMP
 biological_processGO:0014003 oligodendrocyte development IMP
 biological_processGO:0021766 hippocampus development IEA
 biological_processGO:0034976 response to endoplasmic reticulum stress IMP
 biological_processGO:0042552 myelination IMP
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0043434 response to peptide hormone IEA
 biological_processGO:0045727 positive regulation of translation IEA
 biological_processGO:0045948 positive regulation of translational initiation ISS
 biological_processGO:0048708 astrocyte differentiation IMP
 biological_processGO:0050852 T cell receptor signaling pathway IDA
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005851 eukaryotic translation initiation factor 2B complex IEA
 molecular_functionGO:0003743 translation initiation factor activity NAS
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031369 translation initiation factor binding IEA


Pathways (from Reactome)
Pathway description
Recycling of eIF2:GDP


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000618 Blindness 
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 HP:0000648 Optic atrophy 
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 HP:0000712 Emotional lability 
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 HP:0000746 Delusions 
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 HP:0000751 Personality changes 
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 HP:0000869 Secondary amenorrhea 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001254 Lethargy 
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 HP:0001257 Spasticity "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0002317 Unsteady gait 
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 HP:0002352 Leukoencephalopathy 
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 HP:0002354 Memory impairment 
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 HP:0002376 Developmental regression 
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 HP:0003621 Juvenile onset 
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 HP:0004485 cessation of head growth in affected infants 
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 HP:0006808 Hypomyelination of the brain 
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 HP:0007305 Cns demyelination 
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 HP:0008193 Primary gonadal insufficiency 
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 HP:0008209 Premature ovarian failure 
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 HP:0008233 Decreased serum progesterone 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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