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EIF2B2 cDNA ORF clone, Homo sapiens(Human)

Gene Symbol EIF2B2
Entrez Gene ID 8892
Full Name eukaryotic translation initiation factor 2B subunit beta
Synonyms EIF-2Bbeta,EIF2B
General protein information
Preferred Names

eukaryotic translation initiation factor 2B subunit beta

Names

translation initiation factor eIF-2B subunit beta
S20I15
S20III15
eIF-2B GDP-GTP exchange factor subunit beta
eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa

Gene Type protein-coding
Organism Homo sapiens(Human)
Genome

14

14q24.3

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].
Disorder MIM:

606454

Disorder Html: Leukoencephalopathy with vanishing white matter, 603896 (3);

mRNA and Protein(s)

mRNA Protein Name
NM_014239.3 NP_055054.1 translation initiation factor eIF-2B subunit beta



Danio rerio (zebrafish) eif2b2 NP_998068.1
Drosophila melanogaster (fruit fly) eIF2B-beta NP_570020.1
Anopheles gambiae (African malaria mosquito) AgaP_AGAP007097 XP_308661.3
Arabidopsis thaliana (thale cress) AT3G07300 NP_001030655.1
Pan troglodytes (chimpanzee) EIF2B2 XP_001159118.1
Canis lupus familiaris (dog) EIF2B2 XP_547911.3
Bos taurus (cattle) EIF2B2 NP_001015593.1
Kluyveromyces lactis KLLA0C05082g XP_452427.1
Macaca mulatta (rhesus monkey) EIF2B2 XP_001096586.1
Homo sapiens (human) EIF2B2 NP_055054.1
Rattus norvegicus (Norway rat) Eif2b2 NP_114447.2
Saccharomyces cerevisiae (baker's yeast) GCD7 NP_013394.1
Mus musculus (house mouse) Eif2b2 NP_663420.1
Gallus gallus (chicken) EIF2B2 NP_001006481.1
Kluyveromyces lactis KLLA0A04433g XP_451194.1
Eremothecium gossypii AGOS_AGR292C NP_986958.1
Schizosaccharomyces pombe (fission yeast) SPAC343.14c NP_593435.1
Oryza sativa (rice) Os10g0392700 NP_001064516.2
Xenopus tropicalis (tropical clawed frog) eif2b2 NP_001164986.1


Related articles in PubMed

eIF2B-related multisystem disorder in two sisters with atypical presentations.
Lee JS, Lee S, Choi M, Lim BC, Choi J, Kim KJ, Cheon JE, Kim IO, Chae JH
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society21(2)404-409(2017 Mar)

Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N, Yi S, Taipale M, Fuxman Bass JI, Coulombe-Huntington J, Yang F, Peng J, Weile J, Karras GI, Wang Y, Kovács IA, Kamburov A, Krykbaeva I, Lam MH, Tucker G, Khurana V, Sharma A, Liu YY, Yachie N, Zhong Q, Shen Y, Palagi A, San-Miguel A, Fan C, Balcha D, Dricot A, Jordan DM, Walsh JM, Shah AA, Yang X, Stoyanova AK, Leighton A, Calderwood MA, Jacob Y, Cusick ME, Salehi-Ashtiani K, Whitesell LJ, Sunyaev S, Berger B, Barabási AL, Charloteaux B, Hill DE, Hao T, Roth FP, Xia Y, Walhout AJM, Lindquist S, Vidal M
Cell161(3)647-660(2015 Apr)

Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
Sambati L, Agati R, Bacci A, Bianchi S, Capellari S
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology34(7)1235-8(2013 Jul)

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.
Alsalem A, Shaheen R, Alkuraya FS
Gene496(2)141-3(2012 Apr)

GeneRIFs: Gene References Into Functions What's a GeneRIF?

It would be better to consider Vanishing White Matter Disease as an eIF2B-related multisystem disorder, not just as a neurological disorder.
Title: eIF2B-related multisystem disorder in two sisters with atypical presentations.

An Italian patient is described with a c.638A>G mutation in exon 5 of EIF2B2 gene with very slow progressive vanishing white matter disease.
Title: Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.

analysis of vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype [case report]
Title: Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.

Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.

The following EIF2B2 gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the EIF2B2 cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.

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***CloneID RefSeq Accession Definition **Vector *Turnaround time Price (USD) Select
OHu22319 NM_014239.3
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Homo sapiens eukaryotic translation initiation factor 2B subunit beta (EIF2B2), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$189.50-$265.30
$379.00

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** You may select a custom vector to replace pcDNA3.1+/C-(K)DYK after clone is added to cart.

** GenScript guarantees 100% sequence accuracy of all synthetic DNA constructs we deliver, but we do not guarantee protein expression in your experimental system. Protein expression is influenced by many factors that may vary between experiments or laboratories. In addition, please pay attention to the signal peptide, propeptide and transit peptide in target ORF, which may affect the choice of vector (N/C terminal tag vector).

***One clone ID might be correlated to multiple accession numbers, which share the same CDS sequence.


CloneID OHu22319
Clone ID Related Accession (Same CDS sequence) NM_014239.3
Accession Version NM_014239.3 Latest version! Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 1056bp)
Protein sequence
SNP
Vector pcDNA3.1+/C-(K)DYK or customized vector User Manual
Clone information Clone Map MSDS
Tag on pcDNA3.1+/C-(K)DYK C terminal DYKDDDDK tags COA
ORF Insert Method CloneEZ® Seamless cloning technology
Insert Structure linear
Update Date 2017-04-17
Organism Homo sapiens(Human)
Product translation initiation factor eIF-2B subunit beta
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff in collaboration with Francesco Amaldi. The reference sequence was derived from AL049780.4, BC011750.2 and AI265790.1. This sequence is a reference standard in the RefSeqGene project. On Oct 10, 2009 this sequence version replaced NM_014239.2. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC000494.2, AF035280.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: full length.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
ATGCCGGGAT CCGCAGCGAA GGGCTCGGAG TTGTCAGAGA GGATCGAGAG CTTCGTGGAG 
ACCCTGAAGC GGGGTGGTGG GCCGCGCAGC TCCGAGGAAA TGGCTCGGGA GACCCTAGGG
TTGCTGCGCC AGATCATCAC GGACCACCGC TGGAGCAACG CGGGGGAGCT GATGGAGCTG
ATCCGCAGAG AGGGCAGGAG GATGACGGCC GCTCAGCCCT CCGAGACCAC CGTGGGCAAC
ATGGTGCGGA GAGTGCTCAA GATTATCCGG GAGGAGTATG GCAGACTCCA TGGACGCAGC
GACGAGAGTG ATCAGCAGGA GTCCCTGCAC AAACTGTTGA CATCCGGAGG CCTAAACGAG
GATTTCAGCT TCCATTATGC CCAACTCCAG TCCAACATCA TTGAGGCGAT TAATGAGCTG
CTAGTGGAGC TGGAAGGGAC AATGGAGAAC ATTGCAGCCC AGGCTCTGGA GCACATTCAC
TCCAATGAGG TGATCATGAC CATTGGCTTC TCCCGAACAG TAGAGGCCTT CCTCAAAGAG
GCTGCCCGAA AGAGGAAATT CCATGTCATT GTAGCAGAGT GTGCTCCTTT CTGCCAGGGT
CATGAAATGG CTGTGAATTT GTCCAAAGCA GGTATTGAGA CAACTGTCAT GACTGATGCT
GCCATTTTTG CCGTTATGTC AAGAGTCAAC AAGGTGATCA TTGGCACGAA GACCATCCTG
GCCAATGGGG CCCTGAGAGC TGTGACAGGA ACTCACACTC TGGCACTGGC AGCAAAACAC
CATTCCACCC CACTCATCGT CTGTGCACCT ATGTTCAAAC TTTCTCCACA GTTCCCCAAT
GAAGAAGACT CATTTCATAA GTTTGTGGCT CCTGAAGAAG TCCTGCCATT CACAGAAGGG
GACATTCTGG AGAAGGTCAG CGTGCATTGC CCTGTGTTTG ACTACGTTCC CCCAGAGCTC
ATTACCCTCT TTATCTCCAA CATTGGTGGG AATGCACCTT CCTACATCTA CCGCCTGATG
AGTGAACTCT ACCATCCTGA TGATCATGTT TTATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

RefSeq NP_055054.1
CDS83..1138
Misc Feature(1)56..58
Misc Feature(2)167..1114
Misc Feature(3)167..1081
Exon (1)1..245
Exon (2)246..366
Exon (3)367..515
Exon (4)516..679
Exon (5)680..775
Exon (6)776..913
Exon (7)914..980
Exon (8)981..1541
Translation

Target ORF information:

RefSeq Version NM_014239.3
Organism Homo sapiens(Human)
Definition Homo sapiens eukaryotic translation initiation factor 2B subunit beta (EIF2B2), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_014239.3

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
841
901
961
1021
ATGCCGGGAT CCGCAGCGAA GGGCTCGGAG TTGTCAGAGA GGATCGAGAG CTTCGTGGAG 
ACCCTGAAGC GGGGTGGTGG GCCGCGCAGC TCCGAGGAAA TGGCTCGGGA GACCCTAGGG
TTGCTGCGCC AGATCATCAC GGACCACCGC TGGAGCAACG CGGGGGAGCT GATGGAGCTG
ATCCGCAGAG AGGGCAGGAG GATGACGGCC GCTCAGCCCT CCGAGACCAC CGTGGGCAAC
ATGGTGCGGA GAGTGCTCAA GATTATCCGG GAGGAGTATG GCAGACTCCA TGGACGCAGC
GACGAGAGTG ATCAGCAGGA GTCCCTGCAC AAACTGTTGA CATCCGGAGG CCTAAACGAG
GATTTCAGCT TCCATTATGC CCAACTCCAG TCCAACATCA TTGAGGCGAT TAATGAGCTG
CTAGTGGAGC TGGAAGGGAC AATGGAGAAC ATTGCAGCCC AGGCTCTGGA GCACATTCAC
TCCAATGAGG TGATCATGAC CATTGGCTTC TCCCGAACAG TAGAGGCCTT CCTCAAAGAG
GCTGCCCGAA AGAGGAAATT CCATGTCATT GTAGCAGAGT GTGCTCCTTT CTGCCAGGGT
CATGAAATGG CTGTGAATTT GTCCAAAGCA GGTATTGAGA CAACTGTCAT GACTGATGCT
GCCATTTTTG CCGTTATGTC AAGAGTCAAC AAGGTGATCA TTGGCACGAA GACCATCCTG
GCCAATGGGG CCCTGAGAGC TGTGACAGGA ACTCACACTC TGGCACTGGC AGCAAAACAC
CATTCCACCC CACTCATCGT CTGTGCACCT ATGTTCAAAC TTTCTCCACA GTTCCCCAAT
GAAGAAGACT CATTTCATAA GTTTGTGGCT CCTGAAGAAG TCCTGCCATT CACAGAAGGG
GACATTCTGG AGAAGGTCAG CGTGCATTGC CCTGTGTTTG ACTACGTTCC CCCAGAGCTC
ATTACCCTCT TTATCTCCAA CATTGGTGGG AATGCACCTT CCTACATCTA CCGCCTGATG
AGTGAACTCT ACCATCCTGA TGATCATGTT TTATGA

The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.

book

eIF2B-related multisystem disorder in two sisters with atypical presentations.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society21(2)404-409(2017 Mar)
Lee JS,Lee S,Choi M,Lim BC,Choi J,Kim KJ,Cheon JE,Kim IO,Chae JH


book

Widespread macromolecular interaction perturbations in human genetic disorders.
Cell161(3)647-660(2015 Apr)
Sahni N,Yi S,Taipale M,Fuxman Bass JI,Coulombe-Huntington J,Yang F,Peng J,Weile J,Karras GI,Wang Y,Kovács IA,Kamburov A,Krykbaeva I,Lam MH,Tucker G,Khurana V,Sharma A,Liu YY,Yachie N,Zhong Q,Shen Y,Palagi A,San-Miguel A,Fan C,Balcha D,Dricot A,Jordan DM,Walsh JM,Shah AA,Yang X,Stoyanova AK,Leighton A,Calderwood MA,Jacob Y,Cusick ME,Salehi-Ashtiani K,Whitesell LJ,Sunyaev S,Berger B,Barabási AL,Charloteaux B,Hill DE,Hao T,Roth FP,Xia Y,Walhout AJM,Lindquist S,Vidal M


book

Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology34(7)1235-8(2013 Jul)
Sambati L,Agati R,Bacci A,Bianchi S,Capellari S


book

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.
Gene496(2)141-3(2012 Apr)
Alsalem A,Shaheen R,Alkuraya FS


 
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