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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001024630 Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_001024630.3, 226442782
Length 5553 bp
Structure linear
Update Date 29-APR-2013
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) is the longer transcript of the two transcripts transcribed from promoter 1 (P1) and encodes the longer protein (isoform a) of these two transcripts. Isoform a is also referred to as the OSF2/CBFA1a isoform.


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.

RefSeq NP_001019801.3
CDS 211..1776
Misc Feature(1)1
Misc Feature(2)1
Misc Feature(3)4..6
Misc Feature(4)508..909
Misc Feature(5)508..909
Misc Feature(6)934..984
Misc Feature(7)1216..1527
Misc Feature(8)1330..1614
Misc Feature(9)1540..1773
Misc Feature(10)1561..1563
Exon (1)1..144
Gene:RUNX2
Gene Synonym:AML3; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
Exon (2)145..268
Gene:RUNX2
Gene Synonym:AML3; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
Exon (3)269..633
Gene:RUNX2
Gene Synonym:AML3; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
Exon (4)634..790
Gene:RUNX2
Gene Synonym:AML3; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
Exon (5)791..895
Gene:RUNX2
Gene Synonym:AML3; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
Exon (6)896..1069
Gene:RUNX2
Gene Synonym:AML3; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
Exon (7)1070..1231
Gene:RUNX2
Gene Synonym:AML3; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
Exon (8)1232..1297
Gene:RUNX2
Gene Synonym:AML3; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
Exon (9)1298..5553
Gene:RUNX2
Gene Synonym:AML3; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
Translation MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQ QQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPN FLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVA RFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSKPS LFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYD QSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKS QAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHT YLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGS TLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY
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Position Chain Variation Link
17+c, tdbSNP:79058520
35+a, cdbSNP:60586642
116+a, gdbSNP:200595267
145+dbSNP:
145+c, tdbSNP:190642427
200..202+, aagdbSNP:139788537
201+a, gdbSNP:80053447
218+a, cdbSNP:75454554
295+dbSNP:
295+c, tdbSNP:114654066
297+c, tdbSNP:142582606
331+c, gdbSNP:200687912
333+a, cdbSNP:202042342
435..452+, ggcggctgcggcggcggcdbSNP:11498192
450+a, gdbSNP:6921145
506+a, tdbSNP:150962268
534+c, tdbSNP:140761255
539+c, tdbSNP:150088136
597+c, tdbSNP:181096602
645+dbSNP:
645+c, tdbSNP:147760046
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
917+dbSNP:
917+a, tdbSNP:180860949
926+c, tdbSNP:186720964
927+c, tdbSNP:143112973
961+c, tdbSNP:11498200
1002+a, gdbSNP:12173874
1073+dbSNP:
1073+c, tdbSNP:148326029
1097+c, tdbSNP:201584115
1101+a, gdbSNP:104893988
1129+c, tdbSNP:141447644
1143+a, gdbSNP:146314825
1144+c, tdbSNP:78532572
1170+a, gdbSNP:139514226
1187+g, tdbSNP:143092997
1202+c, gdbSNP:114554762
1309+dbSNP:
1309+c, gdbSNP:140165241
1376+a, gdbSNP:115347084
1398+c, tdbSNP:115129262
1416+a, gdbSNP:200992166
1506+a, cdbSNP:144760627
1590..1591+, gdbSNP:67791867
1601+a, gdbSNP:148639759
1607+c, tdbSNP:144852234
1622+c, tdbSNP:142108189
1623+a, gdbSNP:114897742
1653+a, gdbSNP:147783693
1677+c, tdbSNP:202246150
1701+c, tdbSNP:141100653
1741+a, c, g, tdbSNP:11498198
1775+c, gdbSNP:104893994
1779..1780+, tdbSNP:71993679
1784+c, tdbSNP:200866173
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
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
3777+a, gdbSNP:150354057
3944+a, cdbSNP:183868596
3975+a, gdbSNP:144977950
4050+c, tdbSNP:186219428
4256+c, tdbSNP:149059421
4365+c, tdbSNP:7451304
4418+a, gdbSNP:7451384
4474+, tdbSNP:11320232
4491+a, gdbSNP:199935487
4614+c, gdbSNP:80072481
4767+c, tdbSNP:189846967
4806+c, tdbSNP:145866183
4823+a, cdbSNP:182124295
4935+c, tdbSNP:138689945
4936+a, cdbSNP:1200428
5265+, gdbSNP:35633395
5344+c, tdbSNP:142687054
5368+a, gdbSNP:62400377
5469+a, gdbSNP:146924197
Gene SymbolRUNX2
Gene SynonymAML3; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1
Chromosome6
Locus Map6p21
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001015051 Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 2, mRNA. On-demand TBD TBD
NM_001024630 Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA. On-demand TBD TBD
NM_004348 Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 3, mRNA. On-demand TBD TBD
Title Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2 .
Author Moffatt,P., Ben Amor,M., Glorieux,F.H., Roschger,P., Klaushofer,K., Schwartzentruber,J.A., Paterson,A.D., Hu,P., Marshall,C., Fahiminiya,S., Majewski,J., Beaulieu,C.L., Boycott,K.M. and Rauch,F.
Journal Am. J. Hum. Genet. 92 (2), 252-258 (2013)
Title Osterix regulates calcification and degradation of chondrogenic matrices through matrix metalloproteinase 13 (MMP13) expression in association with transcription factor Runx2 during endochondral ossification .
Author Nishimura,R., Wakabayashi,M., Hata,K., Matsubara,T., Honma,S., Wakisaka,S., Kiyonari,H., Shioi,G., Yamaguchi,A., Tsumaki,N., Akiyama,H. and Yoneda,T.
Journal J. Biol. Chem. 287 (40), 33179-33190 (2012)
Title Overexpression of runt-related transcription factor-2 is associated with advanced tumor progression and poor prognosis in epithelial ovarian cancer .
Author Li,W., Xu,S., Lin,S. and Zhao,W.
Journal J. Biomed. Biotechnol. 2012, 456534 (2012)
Title Integrin alphavbeta3 and CD44 pathways in metastatic prostate cancer cells support osteoclastogenesis via a Runx2/Smad 5/receptor activator of NF-kappaB ligand signaling axis .
Author Gupta,A., Cao,W. and Chellaiah,M.A.
Journal Mol. Cancer 11, 66 (2012)
Title Glutamine repeat variants in human RUNX2 associated with decreased femoral neck BMD, broadband ultrasound attenuation and target gene transactivation .
Author Morrison,N.A., Stephens,A.A., Osato,M., Polly,P., Tan,T.C., Yamashita,N., Doecke,J.D., Pasco,J., Fozzard,N., Jones,G., Ralston,S.H., Sambrook,P.N., Prince,R.L. and Nicholson,G.C.
Journal PLoS ONE 7 (8), E42617 (2012)
Title Genomic organization, expression of the human CBFA1 gene, and evidence for an alternative splicing event affecting protein function .
Author Geoffroy,V., Corral,D.A., Zhou,L., Lee,B. and Karsenty,G.
Journal Mamm. Genome 9 (1), 54-57 (1998)
Title A gene for cleidocranial dysplasia maps to the short arm of chromosome 6 .
Author Feldman,G.J., Robin,N.H., Brueton,L.A., Robertson,E., Thompson,E.M., Siegel-Bartelt,J., Gasser,D.L., Bailey,L.C., Zackai,E.H. 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 Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia .
Author Nienhaus,H., Mau,U., Zang,K.D. and Henn,W.
Journal Am. J. Med. Genet. 46 (6), 630-631 (1993)


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