LOCUS NP_001019801 589 aa linear PRI 05-OCT-2008
DEFINITION runt-related transcription factor 2 isoform a [Homo sapiens].
ACCESSION NP_001019801
VERSION NP_001019801.2 GI:116734655
DBSOURCE REFSEQ: accession NM_001024630.2
KEYWORDS .
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 589)
AUTHORS Vladimirova,V., Waha,A., Luckerath,K., Pesheva,P. and
Probstmeier,R.
TITLE Runx2 is expressed in human glioma cells and mediates the
expression of galectin-3
JOURNAL J. Neurosci. Res. 86 (11), 2450-2461 (2008)
PUBMED 18438928
REMARK GeneRIF: These data suggest a functional contribution of
Runx-2-regulated galectin-3 expression to glial tumor malignancy.
REFERENCE 2 (residues 1 to 589)
AUTHORS Shin,H.D., Jeon,J.P., Park,B.L., Bae,J.S., Nam,H.Y., Shim,S.M.,
Park,K.S. and Han,B.G.
TITLE Novel Promoter Polymorphism in RUNX2 Is Associated with Serum
Triglyceride Level
JOURNAL Mol. Cells 26 (5) (2008) In press
PUBMED 18688176
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
Publication Status: Available-Online prior to print
REFERENCE 3 (residues 1 to 589)
AUTHORS Bobryshev,Y.V., Killingsworth,M.C. and Lord,R.S.
TITLE Spatial distribution of osteoblast-specific transcription factor
Cbfa1 and bone formation in atherosclerotic arteries
JOURNAL Cell Tissue Res. 333 (2), 225-235 (2008)
PUBMED 18553107
REMARK GeneRIF: Dats suggest that sparse neovascularization into areas
underlying the atherosclerotic plaques' necrotic cores, where
Cbfa1-expressing cells reside, might explain the rarity of ectopic
bone formation in the arterial wall.
REFERENCE 4 (residues 1 to 589)
AUTHORS Rich,J.T., Rosova,I., Nolta,J.A., Myckatyn,T.M., Sandell,L.J. and
McAlinden,A.
TITLE Upregulation of Runx2 and Osterix during in vitro chondrogenesis of
human adipose-derived stromal cells
JOURNAL Biochem. Biophys. Res. Commun. 372 (1), 230-235 (2008)
PUBMED 18482578
REMARK GeneRIF: This is the first report demonstrating significant
upregulation in expression of Runx2 and Osterix by TGF-beta3
induction of human adipose-derived stromal cells during in vitro
chondrogenesis.
REFERENCE 5 (residues 1 to 589)
AUTHORS Tamiya,H., Ikeda,T., Jeong,J.H., Saito,T., Yano,F., Jung,Y.K.,
Ohba,S., Kawaguchi,H., Chung,U.I. and Choi,J.Y.
TITLE Analysis of the Runx2 promoter in osseous and non-osseous cells and
identification of HIF2A as a potent transcription activator
JOURNAL Gene 416 (1-2), 53-60 (2008)
PUBMED 18442887
REMARK GeneRIF: the region between -3 kb and -1 kb is required for the
minimal skeletal tissue-specific expression of Runx2, and that the
region between -155 bp and -75 bp is important for its basal
transcription, which may be in part mediated by HIF2A in bone
tissues.
REFERENCE 6 (residues 1 to 589)
AUTHORS Ducy,P., Zhang,R., Geoffroy,V., Ridall,A.L. and Karsenty,G.
TITLE Osf2/Cbfa1: a transcriptional activator of osteoblast
differentiation
JOURNAL Cell 89 (5), 747-754 (1997)
PUBMED 9182762
REFERENCE 7 (residues 1 to 589)
AUTHORS 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.
TITLE A gene for cleidocranial dysplasia maps to the short arm of
chromosome 6
JOURNAL Am. J. Hum. Genet. 56 (4), 938-943 (1995)
PUBMED 7717404
REFERENCE 8 (residues 1 to 589)
AUTHORS Levanon,D., Negreanu,V., Bernstein,Y., Bar-Am,I., Avivi,L. and
Groner,Y.
TITLE AML1, AML2, and AML3, the human members of the runt domain
gene-family: cDNA structure, expression, and chromosomal
localization
JOURNAL Genomics 23 (2), 425-432 (1994)
PUBMED 7835892
REFERENCE 9 (residues 1 to 589)
AUTHORS Ogawa,E., Maruyama,M., Kagoshima,H., Inuzuka,M., Lu,J., Satake,M.,
Shigesada,K. and Ito,Y.
TITLE PEBP2/PEA2 represents a family of transcription factors homologous
to the products of the Drosophila runt gene and the human AML1 gene
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 90 (14), 6859-6863 (1993)
PUBMED 8341710
REFERENCE 10 (residues 1 to 589)
AUTHORS Nienhaus,H., Mau,U., Zang,K.D. and Henn,W.
TITLE Pericentric inversion of chromosome 6 in a patient with
cleidocranial dysplasia
JOURNAL Am. J. Med. Genet. 46 (6), 630-631 (1993)
PUBMED 8362902
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL096865.28, L40992.1,
AL161907.17 and CD001961.1.
On Oct 26, 2006 this sequence version replaced gi:66934967.
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].
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.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the
Entrez Gene record to access additional publications.
FEATURES Location/Qualifiers
source 1..589
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="6"
/map="6p21"
Protein 1..589
/product="runt-related transcription factor 2 isoform a"
/note="core-binding factor, runt domain, alpha subunit 1;
CBF-alpha 1; acute myeloid leukemia 3 protein;
polyomavirus enhancer binding protein 2 alpha A subunit;
SL3-3 enhancer factor 1 alpha A subunit; SL3/AKV
core-binding factor alpha A subunit; osteoblast-specific
transcription factor 2"
/calculated_mol_wt=64308
CDS 1..589
/gene="RUNX2"
/gene_synonym="CCD"
/gene_synonym="AML3"
/gene_synonym="CCD1"
/gene_synonym="OSF2"
/gene_synonym="CBFA1"
/gene_synonym="PEA2aA"
/gene_synonym="PEBP2A1"
/gene_synonym="PEBP2A2"
/gene_synonym="PEBP2aA"
/gene_synonym="PEBP2aA1"
/gene_synonym="MGC120022"
/gene_synonym="MGC120023"
/coded_by="NM_001024630.2:7..1776"
/note="isoform a is encoded by transcript variant 1"
/db_xref="CCDS:CCDS43467.1"
/db_xref="GeneID:860"
/db_xref="HGNC:10472"
/db_xref="MIM:600211"
ORIGIN
1 mlhsphkqpq nhkcganflq edskkslvfk wlisaghyqp prptesfkaa ssiynrgykf
61 ylkkkggtma snslfstvtp cqqnffwdps tsrrfsppss slqpgkmsdv spvvaaqqqq
121 qqqqqqqqqq qqqqqqqqqe aaaaaaaaaa aaaaaaavpr lrpphdnrtm veiiadhpae
181 lvrtdspnfl csvlpshwrc nktlpvafkv valgevpdgt vvtvmagnde nysaelrnas
241 avmknqvarf ndlrfvgrsg rgksftltit vftnppqvat yhraikvtvd gpreprrhrq
301 klddskpslf sdrlsdlgri phpsmrvgvp pqnprpslns apspfnpqgq sqitdprqaq
361 ssppwsydqs ypsylsqmts psihsttpls strgtglpai tdvprrisdd dtatsdfclw
421 pstlskksqa gaselgpfsd prqfpsissl tesrfsnprm hypatftytp pvtsgmslgm
481 satthyhtyl pppypgssqs qsgpfqtsst pylyygtssg syqfpmvpgg drspsrmlpp
541 ctttsngstl lnpnlpnqnd gvdadgshss sptvlnssgr mdesvwrpy
//