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Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu22872 Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $219.00 7-9
OHu22872C Homo sapiens runt-related transcription factor 2 (RUNX2), 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_001024630.3, 226442782
Length 1566 bp
Structure linear
Update Date 10-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.
Product runt-related transcription factor 2 isoform a
Comment

Summary: This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as OSF2/CBFA1a).


Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. There are no full-length transcripts supporting this RefSeq in human; however, it is represented based on PMID: 9434946, and full-length transcript support from the mouse homolog (GeneID: 12393, AF010284.1).

RefSeq NP_001019801.3
CDS 211..1776
Misc Feature(1)1
Misc Feature(2)1
Misc Feature(3)4..6
Misc Feature(4)505..909
Misc Feature(5)505..909
Misc Feature(6)934..984
Misc Feature(7)1216..1527
Misc Feature(8)1330..1614
Misc Feature(9)1489..1773
Misc Feature(10)1561..1563
Exon (1)1..144
Gene:RUNX2
Gene Synonym:AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA
Exon (2)145..268
Gene:RUNX2
Gene Synonym:AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA
Exon (3)269..633
Gene:RUNX2
Gene Synonym:AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA
Exon (4)634..790
Gene:RUNX2
Gene Synonym:AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA
Exon (5)791..895
Gene:RUNX2
Gene Synonym:AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA
Exon (6)896..1069
Gene:RUNX2
Gene Synonym:AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA
Exon (7)1070..1231
Gene:RUNX2
Gene Synonym:AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA
Exon (8)1232..1297
Gene:RUNX2
Gene Synonym:AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA
Exon (9)1298..5553
Gene:RUNX2
Gene Synonym:AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA
Translation MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQ QQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPN FLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVA RFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSKPS LFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYD QSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKS QAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHT YLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGS TLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY
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Position Chain Variation Link
17+c, tdbSNP:79058520
18+a, gdbSNP:369627478
35+a, cdbSNP:60586642
67+a, gdbSNP:372340475
116+a, gdbSNP:200595267
128+c, gdbSNP:375345686
137+c, gdbSNP:369440510
145+dbSNP:
145+c, tdbSNP:190642427
200..202+, aagdbSNP:139788537
201+a, gdbSNP:80053447
218+a, c, tdbSNP:75454554
245+c, tdbSNP:373621180
295+dbSNP:
295+c, tdbSNP:114654066
297+c, tdbSNP:142582606
300..301+, cdbSNP:397515538
331+c, gdbSNP:200687912
333+a, cdbSNP:202042342
361+a, cdbSNP:368475300
450+a, gdbSNP:6921145
464+c, tdbSNP:372138746
470..471+, ggcggctgcggcggcggcdbSNP:11498192
474+c, tdbSNP:371399056
483+c, tdbSNP:376449674
486+a, gdbSNP:368258190
506+a, tdbSNP:150962268
514+a, gdbSNP:376849024
531+c, gdbSNP:368977633
534+c, tdbSNP:140761255
539+c, tdbSNP:150088136
546+a, gdbSNP:368995035
597+c, tdbSNP:181096602
645+dbSNP:
645+c, tdbSNP:147760046
649+a, gdbSNP:370512978
665+c, tdbSNP:373029816
716+c, gdbSNP:104893995
733+a, gdbSNP:201647225
734+g, tdbSNP:104893989
741+c, gdbSNP:147359883
745+c, gdbSNP:182416246
759+c, tdbSNP:115974315
782+a, gdbSNP:104893990
802+dbSNP:
802+a, gdbSNP:113836922
808+a, gdbSNP:104893993
817+a, gdbSNP:147009083
848+a, gdbSNP:138138469
873+a, gdbSNP:115763613
883+c, tdbSNP:104893992
884+a, gdbSNP:104893991
913+dbSNP:
913+c, gdbSNP:373709122
917+a, tdbSNP:180860949
926+c, tdbSNP:186720964
961+c, tdbSNP:11498200
962+a, gdbSNP:376891808
971+a, gdbSNP:377128508
1002+a, gdbSNP:12173874
1009+c, tdbSNP:370486033
1073+dbSNP:
1073+c, tdbSNP:148326029
1097+c, tdbSNP:201584115
1101+a, gdbSNP:104893988
1108+c, gdbSNP:370331024
1129+c, tdbSNP:141447644
1143+a, gdbSNP:146314825
1144+c, tdbSNP:78532572
1170+a, gdbSNP:139514226
1187+g, tdbSNP:143092997
1202+c, gdbSNP:114554762
1210+a, gdbSNP:373752642
1223+a, gdbSNP:367898326
1309+dbSNP:
1309+c, gdbSNP:140165241
1376+a, gdbSNP:115347084
1381+c, tdbSNP:397515537
1398+c, tdbSNP:115129262
1416+a, gdbSNP:200992166
1418+c, tdbSNP:376694142
1449+c, tdbSNP:369957440
1491+c, tdbSNP:376083944
1506+a, cdbSNP:144760627
1559+c, tdbSNP:369481795
1600+c, tdbSNP:373218126
1601+a, gdbSNP:148639759
1607+c, tdbSNP:144852234
1622+c, tdbSNP:142108189
1623+a, g, tdbSNP:114897742
1626+a, gdbSNP:371147260
1644+c, tdbSNP:374159865
1653+a, gdbSNP:147783693
1677+c, tdbSNP:202246150
1695+c, tdbSNP:377403216
1701+c, tdbSNP:141100653
1741+a, c, g, tdbSNP:11498198
1775+c, gdbSNP:104893994
1784+c, tdbSNP:200866173
1817+a, cdbSNP:376928739
1823+c, tdbSNP:144321470
1988+a, gdbSNP:79061067
2054+a, gdbSNP:142301498
2080+a, gdbSNP:146801654
2094+c, tdbSNP:78935067
2101+a, tdbSNP:180855207
2221+c, tdbSNP:140502641
2368+g, tdbSNP:199528647
2368+, tdbSNP:35084034
2374+g, tdbSNP:45571536
2375+g, tdbSNP:45585135
complement(2384)-, adbSNP:398001403
2386+a, gdbSNP:200995981
2454+c, tdbSNP:185842387
2484+a, gdbSNP:565794
2577+a, gdbSNP:143518330
2588+g, tdbSNP:566712
2591+g, tdbSNP:590091
2860+a, cdbSNP:6906876
2909+a, tdbSNP:188598788
2977+a, tdbSNP:181813204
3080+a, gdbSNP:186839291
3191+a, gdbSNP:146749281
3211..3212+, adbSNP:147020695
3224+c, tdbSNP:77856760
3247+c, tdbSNP:191996120
3310+c, tdbSNP:140371943
3538+c, gdbSNP:77663988
3635+a, gdbSNP:115078186
3695+c, tdbSNP:6912472
3765+c, tdbSNP:374058568
3777+a, gdbSNP:150354057
3944+a, cdbSNP:183868596
3975+a, gdbSNP:144977950
4025+a, gdbSNP:367933871
4050+c, tdbSNP:186219428
complement(4256)-t, cdbSNP:149059421
4365+c, tdbSNP:7451304
4418+a, gdbSNP:7451384
4474+, tdbSNP:11320232
complement(4488)-, adbSNP:398001404
4491+a, gdbSNP:199935487
4614+c, gdbSNP:80072481
4698+a, gdbSNP:371194782
4767+c, tdbSNP:189846967
4806+c, tdbSNP:145866183
4823+a, cdbSNP:182124295
4935+c, tdbSNP:138689945
complement(4936)-c, adbSNP:1200428
4970+c, tdbSNP:372592934
5121+a, gdbSNP:376702554
5265+, gdbSNP:35633395
5344+c, tdbSNP:142687054
5368+a, gdbSNP:62400377
5469+a, gdbSNP:146924197
Gene SymbolRUNX2
Gene SynonymAML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA
Chromosome6
Locus Map6p21
Title Runx2 induces bone osteolysis by transcriptional suppression of TSSC1 .
Author Wang DC, Wang HF and Yuan ZN.
Journal Biochem. Biophys. Res. Commun. 438 (4), 635-639 (2013)
Title The microtubule-associated protein DCAMKL1 regulates osteoblast function via repression of Runx2 .
Author Zou W, Greenblatt MB, Brady N, Lotinun S, Zhai B, de Rivera H, Singh A, Sun J, Gygi SP, Baron R, Glimcher LH and Jones DC.
Journal J. Exp. Med. 210 (9), 1793-1806 (2013)
Title MicroRNA-34c inversely couples the biological functions of the runt-related transcription factor RUNX2 and the tumor suppressor p53 in osteosarcoma .
Author van der Deen M, Taipaleenmaki H, Zhang Y, Teplyuk NM, Gupta A, Cinghu S, Shogren K, Maran A, Yaszemski MJ, Ling L, Cool SM, Leong DT, Dierkes C, Zustin J, Salto-Tellez M, Ito Y, Bae SC, Zielenska M, Squire JA, Lian JB, Stein JL, Zambetti GP, Jones SN, Galindo M, Hesse E, Stein GS and van Wijnen AJ.
Journal J. Biol. Chem. 288 (29), 21307-21319 (2013)
Title Transcriptional autoregulation of the bone related CBFA1/RUNX2 gene .
Author Drissi H, Luc Q, Shakoori R, Chuva De Sousa Lopes S, Choi JY, Terry A, Hu M, Jones S, Neil JC, Lian JB, Stein JL, Van Wijnen AJ and Stein GS.
Journal J. Cell. Physiol. 184 (3), 341-350 (2000)
Title Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function .
Author Geoffroy V, Corral DA, Zhou L, Lee B and Karsenty G.
Journal Mamm. Genome 9 (1), 54-57 (1998)
Title Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia .
Author Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU and Olsen BR.
Journal Cell 89 (5), 773-779 (1997)
Title A gene for cleidocranial dysplasia maps to the short arm of chromosome 6 .
Author Feldman GJ, Robin NH, Brueton LA, Robertson E, Thompson EM, Siegel-Bartelt J, Gasser DL, Bailey LC, Zackai EH and Muenke M.
Journal Am. J. Hum. Genet. 56 (4), 938-943 (1995)
Title AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization .
Author Levanon D, Negreanu V, Bernstein Y, Bar-Am I, Avivi L and Groner Y.
Journal Genomics 23 (2), 425-432 (1994)
Title PEBP2/PEA2 represents a family of transcription factors homologous to the products of the Drosophila runt gene and the human AML1 gene .
Author Ogawa E, Maruyama M, Kagoshima H, Inuzuka M, Lu J, Satake M, Shigesada K and Ito Y.
Journal Proc. Natl. Acad. Sci. U.S.A. 90 (14), 6859-6863 (1993)
Title Cleidocranial Dysplasia .
Author Mendoza-Londono,R. and Lee,B.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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