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Homo sapiens recombination activating gene 2 (RAG2), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu02396 Homo sapiens recombination activating gene 2 (RAG2), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu02396C Homo sapiens recombination activating gene 2 (RAG2), transcript variant 1, mRNA. Customized vector On-demand $269.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000536.3, 296040459
Length 1584 bp
Structure linear
Update Date 26-FEB-2014
Organism Homo sapiens (human)
Definition Homo sapiens recombination activating gene 2 (RAG2), transcript variant 1, mRNA.
Product V(D)J recombination-activating protein 2
Comment

Summary: This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the shortest transcript. Variants 1, 3 and 4 encode the same protein.

RefSeq NP_000527.2
CDS 206..1789
Misc Feature(1)113..115
Misc Feature(2)356..1372
Misc Feature(3)356..1372
Misc Feature(4)1445..1678
Exon (1)1..178
Gene:RAG2
Gene Synonym:RAG-2
Exon (2)179..2431
Gene:RAG2
Gene Synonym:RAG-2
Translation MSLQMVTVSNNIALIQPGFSLMNFDGQVFFFGQKGWPKRSCPTGVFHLDVKHNHVKLKPT IFSKDSCYLPPLRYPATCTFKGSLESEKHQYIIHGGKTPNNEVSDKIYVMSIVCKNNKKV TFRCTEKDLVGDVPEARYGHSINVVYSRGKSMGVLFGGRSYMPSTHRTTEKWNSVADCLP CVFLVDFEFGCATSYILPELQDGLSFHVSIAKNDTIYILGGHSLANNIRPANLYRIRVDL PLGSPAVNCTVLPGGISVSSAILTQTNNDEFVIVGGYQLENQKRMICNIISLEDNKIEIR EMETPDWTPDIKHSKIWFGSNMGNGTVFLGIPGDNKQVVSEGFYFYMLKCAEDDTNEEQT TFTNSQTSTEDPGDSTPFEDSEEFCFSAEANSFDGDDEFDTYNEDDEEDESETGYWITCC PTCDVDINTWVPFYSTELNKPAMIYCSHGDGHWVHAQCMDLAERTLIHLSAGSNKYYCNE HVEIARALHTPQRVLPLKKPPMKSLRKKGSGKILTPAKKSFLRRLFD
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Position Chain Variation Link
complement(1)-dbSNP:
complement(1)-t, cdbSNP:185359195
complement(69)-g, adbSNP:73455545
complement(219)-t, adbSNP:143415103
complement(227)-t, cdbSNP:150762709
complement(240)-g, adbSNP:146584017
complement(261)-c, adbSNP:142852996
complement(268)-t, cdbSNP:142797325
complement(309)-g, cdbSNP:148508754
320+a, gdbSNP:121917897
328+c, gdbSNP:121917895
complement(351)-t, gdbSNP:370447243
complement(366)-t, cdbSNP:377416657
complement(379)-t, cdbSNP:202020106
422+c, tdbSNP:193922574
435+a, cdbSNP:121918574
complement(445)-g, cdbSNP:144703986
complement(473)-g, cdbSNP:149769148
complement(488)-g, adbSNP:386584315
complement(531)-t, adbSNP:201258007
533+a, cdbSNP:193922575
complement(539)-t, cdbSNP:373703454
complement(550..551)-, gdbSNP:36041987
complement(572)-g, adbSNP:147319483
complement(573)-t, cdbSNP:144012817
complement(574)-g, adbSNP:369277180
complement(600)-t, cdbSNP:375033313
complement(622)-c, adbSNP:373022390
complement(623)-g, adbSNP:147155709
complement(642)-t, cdbSNP:140046628
complement(666)-g, adbSNP:17852002
complement(682)-g, adbSNP:141659100
complement(742)-t, cdbSNP:189751142
complement(779)-t, cdbSNP:372867141
849+a, c, tdbSNP:35691292
complement(849)-g, adbSNP:386583940
complement(880)-g, cdbSNP:368808756
complement(889)-g, adbSNP:145031483
891+a, gdbSNP:121917894
complement(923)-g, adbSNP:374781438
complement(946)-g, adbSNP:34092949
complement(1008)-t, cdbSNP:368935791
complement(1014)-t, cdbSNP:149241274
complement(1019)-t, cdbSNP:117899975
1059+g, tdbSNP:121917896
complement(1077)-g, adbSNP:112927992
complement(1083)-t, cdbSNP:16929093
complement(1099)-t, adbSNP:144855259
complement(1104)-t, cdbSNP:138857320
complement(1114)-c, adbSNP:141025671
complement(1118)-g, cdbSNP:370666759
complement(1170)-g, adbSNP:17856658
complement(1173)-t, cdbSNP:139419162
complement(1230)-t, cdbSNP:367615315
1240+c, tdbSNP:35942246
complement(1288)-t, cdbSNP:371025129
complement(1297)-g, cdbSNP:150349031
complement(1300)-g, adbSNP:140519815
complement(1332)-t, gdbSNP:192958391
complement(1343)-c, adbSNP:151269922
complement(1352)-t, cdbSNP:377569152
complement(1363)-c, adbSNP:34629171
complement(1379)-t, cdbSNP:145860209
complement(1402)-c, adbSNP:200473984
complement(1403)-g, cdbSNP:140682926
complement(1410)-t, cdbSNP:199798089
1452+g, tdbSNP:193922572
complement(1512)-t, gdbSNP:201928772
1514+a, gdbSNP:193922573
complement(1522)-c, adbSNP:201044101
complement(1527)-t, gdbSNP:372228472
complement(1528)-g, adbSNP:370624669
complement(1552)-t, cdbSNP:376226076
1557+c, gdbSNP:121918575
complement(1570)-g, adbSNP:369276846
complement(1595)-g, adbSNP:189020262
complement(1596)-t, cdbSNP:147748696
1638+a, gdbSNP:121918573
complement(1664)-t, cdbSNP:374892361
complement(1683)-g, adbSNP:2037101
complement(1683)-g, adbSNP:386553964
complement(1697)-t, adbSNP:373151027
complement(1709)-t, cdbSNP:145614809
complement(1721)-g, adbSNP:140089249
complement(1722)-t, cdbSNP:144812762
complement(1784)-c, adbSNP:149401912
complement(1800)-t, cdbSNP:376130960
complement(1835)-t, adbSNP:374011646
complement(1848)-t, cdbSNP:372838463
complement(1933)-c, adbSNP:12280515
complement(1972)-t, gdbSNP:12280564
complement(1977)-g, adbSNP:142073874
complement(2016)-g, adbSNP:113343318
complement(2117)-t, cdbSNP:10836573
complement(2166)-t, cdbSNP:3740956
complement(2224)-t, cdbSNP:143457071
complement(2293)-g, cdbSNP:186462541
complement(2303)-g, cdbSNP:367981268
Gene SymbolRAG2
Gene SynonymRAG-2
Chromosome11
Locus Map11p13
Title The BCL11A transcription factor directly activates RAG gene expression and V(D)J recombination .
Author Lee BS, Dekker JD, Lee BK, Iyer VR, Sleckman BP, Shaffer AL 3rd, Ippolito GC and Tucker PW.
Journal Mol. Cell. Biol. 33 (9), 1768-1781 (2013)
Title A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome .
Author Chou,J., Hanna-Wakim,R., Tirosh,I., Kane,J., Fraulino,D., Lee,Y.N., Ghanem,S., Mahfouz,I., Megarbane,A., Lefranc,G., Inati,A., Dbaibo,G., Giliani,S., Notarangelo,L.D., Geha,R.S. and Massaad,M.J.
Journal J. Allergy Clin. Immunol. 130 (6), 1414-1416 (2012)
Title Bidirectional activity of the NWC promoter is responsible for RAG-2 transcription in non-lymphoid cells .
Author Laszkiewicz A, Sniezewski L, Kasztura M, Bzdzion L, Cebrat M and Kisielow P.
Journal PLoS ONE 7 (9), E44807 (2012)
Title Multiorgan metastasis of human HER-2+ breast cancer in Rag2-/-;Il2rg-/- mice and treatment with PI3K inhibitor .
Author Nanni P, Nicoletti G, Palladini A, Croci S, Murgo A, Ianzano ML, Grosso V, Stivani V, Antognoli A, Lamolinara A, Landuzzi L, di Tomaso E, Iezzi M, De Giovanni C and Lollini PL.
Journal PLoS ONE 7 (6), E39626 (2012)
Title Novel mutations and diverse clinical phenotypes in recombinase-activating gene 1 deficiency .
Author Kutukculer N, Gulez N, Karaca NE, Aksu G and Berdeli A.
Journal Ital J Pediatr 38, 8 (2012)
Title RAG1 and RAG2 expression in human intestinal epithelium: evidence of extrathymic T cell differentiation .
Author Lynch S, Kelleher D, McManus R and O'Farrelly C.
Journal Eur. J. Immunol. 25 (5), 1143-1147 (1995)
Title Human RAG2, like RAG1, is on chromosome 11 band p13 and therefore not linked to ataxia telangiectasia complementation groups .
Author Sherrington PD, Forster A, Seawright A, van Heyningen V and Rabbitts TH.
Journal Genes Chromosomes Cancer 5 (4), 404-406 (1992)
Title Sequence and chromosome assignment to 11p13-p12 of human RAG genes .
Author Ichihara Y, Hirai M and Kurosawa Y.
Journal Immunol. Lett. 33 (3), 277-284 (1992)
Title Expression of human recombination activating genes (RAG1 and RAG2) in neoplastic lymphoid cells: correlation with cell differentiation and antigen receptor expression .
Author Bories JC, Cayuela JM, Loiseau P and Sigaux F.
Journal Blood 78 (8), 2053-2061 (1991)
Title RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination .
Author Oettinger MA, Schatz DG, Gorka C and Baltimore D.
Journal Science 248 (4962), 1517-1523 (1990)

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