EIF2B5 (eukaryotic translation initiation factor 2B subunit epsilon)
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| Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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8893 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Eukaryotic translation initiation factor 2B subunit epsilon |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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EIF2B5 |
SynonymsGene synonyms aliases
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CACH, CLE, EIF-2B, EIF2Bepsilon, LVWM, VWM5 |
ChromosomeChromosome number
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3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q27.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other E |
SNPsSNP information provided by dbSNP.
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| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs28937596 |
T>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs113994049 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant |
| rs113994050 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant |
| rs113994053 |
C>T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant |
| rs113994054 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant |
| rs113994055 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, missense variant |
| rs113994060 |
G>A |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs113994061 |
G>C |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs113994063 |
C>G,T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs113994064 |
G>A |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs113994068 |
C>A,T |
Pathogenic |
Non coding transcript variant, missense variant, synonymous variant, coding sequence variant |
| rs113994069 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs113994074 |
G>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs113994080 |
C>T |
Pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs397514646 |
G>A,C,T |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant |
| rs749256406 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs907041830 |
A>G,T |
Likely-pathogenic |
Non coding transcript variant, missense variant, coding sequence variant |
| rs958193703 |
G>A |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, non coding transcript variant, upstream transcript variant, 5 prime UTR variant, missense variant |
| rs1057521084 |
T>C |
Likely-pathogenic |
5 prime UTR variant, missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant |
| rs1064794256 |
T>C |
Pathogenic, likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1064795263 |
A>T |
Likely-pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
| rs1553807905 |
GCA>CC |
Pathogenic |
Frameshift variant, non coding transcript variant, coding sequence variant |
| rs1560108537 |
C>G,T |
Likely-pathogenic |
Non coding transcript variant, missense variant, stop gained, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein
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| UniProt ID |
Q13144 |
| Protein name |
Translation initiation factor eIF2B subunit epsilon (eIF2B GDP-GTP exchange factor subunit epsilon) |
| Protein function |
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucl |
| PDB |
3JUI
,
6CAJ
,
6EZO
,
6K71
,
6K72
,
6O81
,
6O85
,
6O9Z
,
7D43
,
7D44
,
7D45
,
7D46
,
7F64
,
7F66
,
7F67
,
7KMF
,
7L70
,
7L7G
,
7RLO
,
7TRJ
,
7VLK
,
8TQO
,
8TQZ
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| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00132 |
Hexapep |
365 → 393 |
Bacterial transferase hexapeptide (six repeats) |
Repeat |
| PF02020 |
W2 |
641 → 720 |
eIF4-gamma/eIF5/eIF2-epsilon |
Family |
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Sequence |
MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEPPPPLQAVLVADSFDRRFFPIS
KDQPRVLLPLANVALIDYTLEFLTATGVQETFVFCCWKAAQIKEHLLKSKWCRPTSLNVV
RIITSELYRSLGDVLRDVDAKALVRSDFLLVYGDVISNINITRALEEHRLRRKLEKNVSV
MTMIFKESSPSHPTRCHEDNVVVAVDSTTNRVLHFQKTQGLRRFAFPLSLFQGSSDGVEV
RYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGLLVNEEILGNQIHMHVTAKEYGARV
SNLHMYSAVCADVIRRWVYPLTPEANFTDSTTQSCTHSRHNIYRGPEVSLGHGSILEENV
LLGSGTVIGSNCFITNSVIGPGCHIGDNVVLDQTYLWQGVRVAAGAQIHQSLLCDNAEVK
ERVTLKPRSVLTSQVVVGPNITLPEGSVISLHPPDAEEDEDDGEFSDDSGADQEKDKVKM
KGYNPAEVGAAGKGYLWKAAGMNMEEEEELQQNLWGLKINMEEESESESEQSMDSEEPDS
RGGSPQMDDIKVFQNEVLGTLQRGKEENISCDNLVLEINSLKYAYNISLKEVMQVLSHVV
LEFPLQQMDSPLDSSRYCALLLPLLKAWSPVFRNYIKRAADHLEALAAIEDFFLEHEALG
ISMAKVLMAFYQLEILAEETILSWFSQRDTTDKGQQLRKNQQLQRFIQWLKEAEEESSED
D
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| Sequence length |
721 |
| Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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| Associated diseases
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| Causal |
| Disease name |
Disease term |
dbSNP ID |
References |
| Cerebellar ataxia |
Progressive cerebellar ataxia |
rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887 |
603896 |
| Developmental regression |
Developmental regression |
rs1224421127 |
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| Leukodystrophy |
Leukodystrophy |
rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417 |
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| Leukoencephalopathy |
Leukoencephalopathy |
rs34757931 |
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| Leukoencephalopathy with vanishing white matter |
Childhood Ataxia with Central Nervous System Hypomyelinization |
rs113994033, rs113994037, rs113994027, rs113994038, rs113994040, rs104894425, rs104894426, rs104894427, rs104894428, rs113994014, rs113994024, rs113994026, rs113994022, rs119474039, rs28939717, rs28937596, rs113994074, rs113994049, rs113994054, rs113994061, rs113994055, rs113994053, rs113994064, rs121908541, rs397514646, rs397514647, rs397514648, rs113994048, rs113994012, rs758746181, rs767933078, rs113994060, rs113994030, rs1064794256, rs141988913, rs113994016, rs372548739, rs752636698, rs755436800, rs113994068, rs545593935 |
12325082, 12707859, 15776425, 15060152, 21560189, 24938145, 11704758, 19158808, 24357685, 20975056, 22952606, 21484434, 15136673, 22699478 |
| Lung adenocarcinoma |
Adenocarcinoma of lung (disorder) |
rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 |
24366584 |
| Macrocephaly |
Macrocephaly |
rs786204854, rs764333096, rs1557739557 |
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| Optic atrophy |
Optic Atrophy |
rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 |
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| Unknown |
| Disease name |
Disease term |
dbSNP ID |
References |
| Cach syndrome |
Late infantile CACH syndrome |
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| Central nervous system demyelination |
Central nervous system demyelination |
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| Cree leukoencephalopathy |
Cree leukoencephalopathy |
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| Delusions |
Delusions |
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| Dysarthria |
Dysarthria |
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| Impaired cognition |
Impaired cognition |
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603896 |
| Mood swings |
Mood swings |
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| Movement disorders |
Movement Disorders |
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12707859, 16807905, 9710032, 25089094, 20838246 |
| Ovarioleukodystrophy |
OVARIOLEUKODYSTROPHY |
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12707859, 15136673 |
| Physiologic amenorrhea |
Primary physiologic amenorrhea |
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| Premature menopause |
Premature Menopause |
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| Secondary physiologic amenorrhea |
Secondary physiologic amenorrhea |
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