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


RefSeq Accession Definition Services Price Order
NM_000536 Homo sapiens recombination activating gene 2 (RAG2), transcript variant 1, mRNA. ORF Sequence $459.36
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RefSeq Version NM_000536.3, 296040459
Length 2457 bp
Structure linear
Update Date 14-APR-2013
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
complement(320)-g, adbSNP:121917897
complement(328)-g, cdbSNP:121917895
complement(379)-t, cdbSNP:202020106
complement(422)-t, cdbSNP:193922574
complement(435)-c, adbSNP:121918574
complement(445)-g, cdbSNP:144703986
complement(473)-g, cdbSNP:149769148
complement(488)-g, adbSNP:36001797
complement(531)-t, adbSNP:201258007
complement(533)-c, adbSNP:193922575
complement(550..551)-, gdbSNP:36041987
complement(572)-g, adbSNP:147319483
complement(573)-t, cdbSNP:144012817
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(849)-t, c, adbSNP:35691292
complement(889)-g, adbSNP:145031483
complement(891)-g, adbSNP:121917894
complement(946)-g, adbSNP:34092949
complement(1014)-t, cdbSNP:149241274
complement(1019)-t, cdbSNP:117899975
complement(1059)-t, gdbSNP: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(1170)-g, adbSNP:17856658
complement(1173)-t, cdbSNP:139419162
complement(1240)-t, cdbSNP:35942246
complement(1243)-g, adbSNP:146472441
complement(1297)-g, cdbSNP:150349031
complement(1300)-g, adbSNP:140519815
complement(1332)-t, gdbSNP:192958391
complement(1343)-c, adbSNP:151269922
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
complement(1452)-t, gdbSNP:193922572
complement(1512)-t, gdbSNP:201928772
complement(1514)-g, adbSNP:193922573
complement(1522)-c, adbSNP:201044101
complement(1557)-g, cdbSNP:121918575
complement(1595)-g, adbSNP:189020262
complement(1596)-t, cdbSNP:147748696
complement(1638)-g, adbSNP:121918573
complement(1683)-g, adbSNP:2037101
complement(1709)-t, cdbSNP:145614809
complement(1721)-g, adbSNP:140089249
complement(1722)-t, cdbSNP:144812762
complement(1784)-c, adbSNP:149401912
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
Gene SymbolRAG2
Gene SynonymRAG-2
Chromosome11
Locus Map11p13
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_000536 Homo sapiens recombination activating gene 2 (RAG2), transcript variant 1, mRNA. Full Length $712.53
ORF Sequence $459.36
NM_001243785 Homo sapiens recombination activating gene 2 (RAG2), transcript variant 3, mRNA. Full Length $769.08
ORF Sequence $459.36
NM_001243786 Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA. Full Length $825.34
ORF Sequence $459.36
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 DNA double-strand breaks relieve USF-mediated repression of Dbeta2 germline transcription in developing thymocytes .
Author Stone,J.L., McMillan,R.E., Skaar,D.A., Bradshaw,J.M., Jirtle,R.L. and Sikes,M.L.
Journal J. Immunol. 188 (5), 2266-2275 (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,M.L., Grosso,V., Stivani,V., Antognoli,A., Lamolinara,A., Landuzzi,L., di Tomaso,E., Iezzi,M., De Giovanni,C. and Lollini,P.L.
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,N.E., 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,P.D., Forster,A., Seawright,A., van Heyningen,V. and Rabbitts,T.H.
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,J.C., Cayuela,J.M., 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,M.A., Schatz,D.G., Gorka,C. and Baltimore,D.
Journal Science 248 (4962), 1517-1523 (1990)

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