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ITM2B cDNA ORF clone, Homo sapiens (human)

Gene Symbol ITM2B
Entrez Gene ID 9445
Full Name integral membrane protein 2B
Synonyms ABRI, BRI, BRI2, BRICD2B, E25B, E3-16, FBD, RDGCA, imBRI2
General protein information
Preferred Names
integral membrane protein 2B
Names
integral membrane protein 2B
immature BRI2
ABri/ADan amyloid peptide
transmembrane protein BRI
BRICHOS domain containing 2B
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

13

13q14.3

Summary Amyloid precursor proteins are processed by beta-secretase and gamma-secretase to produce beta-amyloid peptides which form the characteristic plaques of Alzheimer disease. This gene encodes a transmembrane protein which is processed at the C-terminus by furin or furin-like proteases to produce a small secreted peptide which inhibits the deposition of beta-amyloid. Mutations which result in extension of the C-terminal end of the encoded protein, thereby increasing the size of the secreted peptide, are associated with two neurogenerative diseases, familial British dementia and familial Danish dementia. [provided by RefSeq, Oct 2009]. lac of sum
Disorder MIM:

603904

Disorder Html: Dementia, familial British, 176500 (3); Dementia, familial Danish,

mRNA and Protein(s)

mRNA Protein Name
NM_021999 NP_068839 integral membrane protein 2B



Homo sapiens (human) ITM2B NP_068839.1
Pan troglodytes (chimpanzee) ITM2B NP_001092017.1
Macaca mulatta (Rhesus monkey) ITM2B XP_002800791.1
Canis lupus familiaris (dog) ITM2B XP_005633935.1
Bos taurus (cattle) ITM2B NP_001030265.1
Mus musculus (house mouse) Itm2b NP_032436.1
Rattus norvegicus (Norway rat) Itm2b NP_001006964.1
Gallus gallus (chicken) ITM2B NP_990416.1
Danio rerio (zebrafish) itm2ba NP_955940.1
Xenopus (Silurana) tropicalis (western clawed frog) itm2b NP_989241.1


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

The following ITM2B gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the ITM2B 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.

***CloneID RefSeq Accession Definition **Vector *Turnaround time Price Select
OHu27275
NM_021999 Homo sapiens integral membrane protein 2B (ITM2B), mRNA. pcDNA3.1+/C-(K)DYK or customized vector
in pcDNA3.1+/C-(K)DYK
$99.50-$139.30
$199.00
Next-day Shipping ORF Clones ( in default vector with tag)
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*Business Day

** 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 OHu27275
Clone ID Related Accession (Same CDS sequence) NM_021999
Accession Version NM_021999.4 Documents for ORF clone product in dufault vector
Sequence Information ORF Nucleotide Sequence (Length: 801bp)
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
Structure linear
Update Date 15-MAR-2015
Organism Homo sapiens (human)
Product integral membrane protein 2B
Comment REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from DA087198.1, AK130048.1, AF136973.1 and AF152462.1. This sequence is a reference standard in the RefSeqGene project. On Jan 24, 2009 this sequence version replaced gi:142388886. 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 :: AF152462.1, AF136973.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

1
61
121
181
241
301
361
421
481
541
601
661
721
781
ATGGTGAAGG TGACGTTCAA CTCCGCTCTG GCCCAGAAGG AGGCCAAGAA GGACGAGCCC 
AAGAGCGGCG AGGAGGCGCT CATCATCCCC CCCGACGCCG TCGCGGTGGA CTGCAAGGAC
CCAGATGATG TGGTACCAGT TGGCCAAAGA AGAGCCTGGT GTTGGTGCAT GTGCTTTGGA
CTAGCATTTA TGCTTGCAGG TGTTATTCTA GGAGGAGCAT ACTTGTACAA ATATTTTGCA
CTTCAACCAG ATGACGTGTA CTACTGTGGA ATAAAGTACA TCAAAGATGA TGTCATCTTA
AATGAGCCCT CTGCAGATGC CCCAGCTGCT CTCTACCAGA CAATTGAAGA AAATATTAAA
ATCTTTGAAG AAGAAGAAGT TGAATTTATC AGTGTGCCTG TCCCAGAGTT TGCAGATAGT
GATCCTGCCA ACATTGTTCA TGACTTTAAC AAGAAACTTA CAGCCTATTT AGATCTTAAC
CTGGATAAGT GCTATGTGAT CCCTCTGAAC ACTTCCATTG TTATGCCACC CAGAAACCTA
CTGGAGTTAC TTATTAACAT CAAGGCTGGA ACCTATTTGC CTCAGTCCTA TCTGATTCAT
GAGCACATGG TTATTACTGA TCGCATTGAA AACATTGATC ACCTGGGTTT CTTTATTTAT
CGACTGTGTC ATGACAAGGA AACTTACAAA CTGCAACGCA GAGAAACTAT TAAAGGTATT
CAGAAACGTG AAGCCAGCAA TTGTTTCGCA ATTCGGCATT TTGAAAACAA ATTTGCCGTG
GAAACTTTAA TTTGTTCTTG A

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

RefSeq NP_068839.1
CDS224..1024
Misc Feature(1)71..73(+)
Misc Feature(2)386..448(+)
Misc Feature(3)527..625(+)
Misc Feature(4)632..916(+)
Misc Feature(5)950..955(+)
Exon (1)1..340
Gene:ITM2B
Gene Synonym:
Exon (2)341..469
Gene:ITM2B
Gene Synonym:
Exon (3)470..676
Gene:ITM2B
Gene Synonym:
Exon (4)677..787
Gene:ITM2B
Gene Synonym:
Exon (5)788..938
Gene:ITM2B
Gene Synonym:
Exon (6)939..1896
Gene:ITM2B
Gene Synonym:
Translation

Target ORF information:

RefSeq Version NM_021999
Organism Homo sapiens (human)
Definition Homo sapiens integral membrane protein 2B (ITM2B), mRNA.

Target ORF information:

Epitope DYKDDDDK
Bacterial selection AMPR
Mammalian selection NeoR
Vector pcDNA3.1+/C-(K)DYK
NM_021999

ORF Insert Sequence:

1
61
121
181
241
301
361
421
481
541
601
661
721
781
ATGGTGAAGG TGACGTTCAA CTCCGCTCTG GCCCAGAAGG AGGCCAAGAA GGACGAGCCC 
AAGAGCGGCG AGGAGGCGCT CATCATCCCC CCCGACGCCG TCGCGGTGGA CTGCAAGGAC
CCAGATGATG TGGTACCAGT TGGCCAAAGA AGAGCCTGGT GTTGGTGCAT GTGCTTTGGA
CTAGCATTTA TGCTTGCAGG TGTTATTCTA GGAGGAGCAT ACTTGTACAA ATATTTTGCA
CTTCAACCAG ATGACGTGTA CTACTGTGGA ATAAAGTACA TCAAAGATGA TGTCATCTTA
AATGAGCCCT CTGCAGATGC CCCAGCTGCT CTCTACCAGA CAATTGAAGA AAATATTAAA
ATCTTTGAAG AAGAAGAAGT TGAATTTATC AGTGTGCCTG TCCCAGAGTT TGCAGATAGT
GATCCTGCCA ACATTGTTCA TGACTTTAAC AAGAAACTTA CAGCCTATTT AGATCTTAAC
CTGGATAAGT GCTATGTGAT CCCTCTGAAC ACTTCCATTG TTATGCCACC CAGAAACCTA
CTGGAGTTAC TTATTAACAT CAAGGCTGGA ACCTATTTGC CTCAGTCCTA TCTGATTCAT
GAGCACATGG TTATTACTGA TCGCATTGAA AACATTGATC ACCTGGGTTT CTTTATTTAT
CGACTGTGTC ATGACAAGGA AACTTACAAA CTGCAACGCA GAGAAACTAT TAAAGGTATT
CAGAAACGTG AAGCCAGCAA TTGTTTCGCA ATTCGGCATT TTGAAAACAA ATTTGCCGTG
GAAACTTTAA TTTGTTCTTG A

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

book

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family
Hum. Mol. Genet. 23 (2), 491-501 (2014)
Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Leveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Said S, Bhattacharya SS, Sahel JA and Zeitz C.


book

The BRICHOS domain, amyloid fibril formation, and their relationship
Biochemistry 52 (43), 7523-7531 (2013)
Knight SD, Presto J, Linse S and Johansson J.


book

BRI2 interacts with BACE1 and regulates its cellular levels by promoting its degradation and reducing its mRNA levels
Curr Alzheimer Res 10 (5), 532-541 (2013)
Tsachaki M, Fotinopoulou A, Slavi N, Zarkou V, Ghiso J and Efthimiopoulos S.


book

Abundant pyroglutamate-modified ABri and ADan peptides in extracellular and vascular amyloid deposits in familial British and Danish dementias
Neurobiol. Aging 34 (5), 1416-1425 (2013)
Saul A, Lashley T, Revesz T, Holton J, Ghiso JA, Coomaraswamy J and Wirths O.


book

Increased tau phosphorylation and tau truncation, and decreased synaptophysin levels in mutant BRI2/tau transgenic mice
PLoS ONE 8 (2), E56426 (2013)
Garringer HJ, Murrell J, Sammeta N, Gnezda A, Ghetti B and Vidal R.


book

A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred
Proc. Natl. Acad. Sci. U.S.A. 97 (9), 4920-4925 (2000)
Vidal R, Revesz T, Rostagno A, Kim E, Holton JL, Bek T, Bojsen-Moller M, Braendgaard H, Plant G, Ghiso J and Frangione B.


book

Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia
Nat. Neurosci. 2 (11), 984-988 (1999)
Kim SH, Wang R, Gordon DJ, Bass J, Steiner DF, Lynn DG, Thinakaran G, Meredith SC and Sisodia SS.


book

A stop-codon mutation in the BRI gene associated with familial British dementia
Nature 399 (6738), 776-781 (1999)
Vidal R, Frangione B, Rostagno A, Mead S, Revesz T, Plant G and Ghiso J.


book

cDNA sequence analysis, chromosomal assignment and expression pattern of the gene coding for integral membrane protein 2B
Gene 217 (1-2), 141-149 (1998)
Pittois K, Deleersnijder W and Merregaert J.


book

Luria testing in demented patients
Acta Neurol. Scand. 46 (SUPPL 43:97-SUPPL 43), 98 (1970)
Ernst,B., Dalby,M.A. and Dalby,A.


 
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