RUNX2 Gene
protein-coding GIFtS : 68
GCID: GC06 P045295
runt-related transcription factor 2 (Previous symbols: CCD, CBFA1, CCD1 )
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Aliasesfor RUNX2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Runt-Related Transcription Factor 2 1 2 OSF-22 3 AML31 2 3 5 OSF22 3 CBFA11 2 3 5 PEA2-Alpha A2 3 PEBP2A11 2 5 PEBP2-Alpha A2 3 CCD1 2 SL3-3 Enhancer Factor 1 Alpha A Subunit2 3 CCD11 2 SL3/AKV Core-Binding Factor Alpha A Subunit2 3 PEBP2aA11 2 PEA2aA2 Acute Myeloid Leukemia 3 Protein2 3 PEBP2A22 Oncogene AML-32 3 PEBP2aA2 Osteoblast-Specific Transcription Factor 22 3 Core-Binding Factor, Runt Domain, Alpha Subunit 12 Polyomavirus Enhancer-Binding Protein 2 Alpha A Subunit2 3 PEBP2A3 CBF-Alpha-11 Core-Binding Factor Subunit Alpha-13
Export aliases for RUNX2 gene to outside databases Previous GC identifers: GC06P045392 GC06P045437 GC06P045498 GC06P045018
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Summariesfor RUNX2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for RUNX2 : 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) UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950 Function : Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for thematuration of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation Gene Wiki entry for RUNX2
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Genomic Viewsfor RUNX2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000006.11 NC_018917.1 NT_007592.15 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the RUNX2 gene promoter: PPAR-gamma1 AP-1 MyoD PPAR-gamma2 C/EBPalpha Other transcription factors Search SABiosciences Chromatin IP Primers for RUNX2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat RUNX2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 6p21 Ensembl cytogenetic band: 6p21.1 HGNC cytogenetic band: 6p21 RUNX2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 6 GeneLoc Exon Structure
GeneLoc location for GC06P045295: view genomic region
(about GC identifiers )
Start:
45,295,894 bp from pter
End:
45,632,086 bp from pter
Size:
336,193 bases
Orientation:
plus strand
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Proteinsfor RUNX2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950 (See
protein sequence )Recommended Name: Runt-related transcription factor 2 Size : 521 amino acids; 56648 Da
Subunit : Heterodimer of an alpha and a beta subunit. The alpha subunit binds DNA as a monomer and through the Runtdomain. DNA-binding is increased by heterodimerization. Interacts with XRCC6 (Ku70) and XRCC5 (Ku80). Interacts with HIVEP3. Interacts with IFI204. Interaction with SATB2; the interaction results in enhanced DNA binding and transactivation by these transcription factors. Binds to HIPK3. Interacts (isoform 3) with DDX5. Interacts with FOXO1 (via a C-terminal region); the interaction inhibits RUNX2 transcriptional activity towards BGLAP. This interaction is prevented on insulin or IGF1 stimulation as FOXO1 is exported from the nucleus (By similarity). Interacts with CCNB1, KAT6A and KAT6B
Subcellular location : Nucleus
Secondary accessions : O14614 O14615 O95181Alternative splicing : 3 isoforms : Q13950-1 Q13950-2 Q13950-3 (Contains a phosphoserine at position 340)Explore the universe of human proteins at neXtProt for RUNX2: NX_Q13950 Post-translational modifications:
Phosphorylated; probably by MAP kinases (MAPK). Phosphorylation by HIPK3 is required for the SPEN/MINT and FGF2 transactivation during osteoblastic differentiation (By similarity). Phosphorylation at Ser-451 by CDK1 promotes endothelial cell proliferation required for tumor angiogenesis probably by facilitating cell cycle progression. Isoform 3 is phosphorylated on Ser-3401
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q13950 RUNX2 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (3 alternative transcripts):
NP_001015051.3 NP_001019801.3 NP_004339.3 ENSEMBL proteins: ENSP00000461357 ENSP00000420707 ENSP00000360493 ENSP00000360491 ENSP00000458178 ENSP00000460188 ENSP00000352514 ENSP00000319087 ENSP00000446290 ENSP00000360486 Reactome Protein details: Q13950 Human Recombinant Protein Products: Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view) : About this table
RUNX2 for ontologies About GeneDecksing RUNX2 Antibody Products: Assay Products for RUNX2:
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Protein
Domains / Familiesfor RUNX2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
RUNX2 for domains About GeneDecksing 5/6 InterPro domains/families (see all 6 ):
Graphical View of Domain Structure for InterPro Entry Q13950 ProtoNet protein and cluster: Q13950
2 Blocks protein families : IPB000040 Acute myeloid leukemia 1 protein signature IPB013711 Runx inhibition UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950 Domain : A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of targetgenes and contains the phosphorylation sites Similarity : Contains 1 Runt domain
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Functionfor RUNX2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950 Function : Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. Essential for thematuration of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation
Genatlas biochemistry entry for RUNX2 : Drosophila Runt pair rule-related transcription factor,expressed in T lymphocyte-derived cell lines,osteoblast-specific transcription factor,regulating osteoblast differentiation,binding to the osteocalcin promoter,regulated by BMP7 and vitamin D3,and essential for membranous and encochondreal bone formation,also involved in hematopoietic stem cells differentiation, Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for RUNX2 (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for RUNX2 (see all 4 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): RUNX2 (NM_001024630 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RUNX2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat RUNX2
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUNX2
Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9 ): About this table
RUNX2 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for RUNX2 :Animal Models: Mouse knock-outs for RUNX2: Runx2 tm1Ldq Runx2 tm1.1Jals Runx2 tm1Kish 15/20 MGI mutant phenotypes (inferred from 7 alleles ) (MGI details for Runx2) (see all 20 ):
RUNX2 for phenotypes About GeneDecksing
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Pathways & Interactionsfor RUNX2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways  - 5/16 super-pathways (see all 16 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Transcription_Role of VDR in regulation of genes involved in osteoporosis 2 Development_Hedgehog and PTH signaling pathways in bone and cartilage development 3 Generic Transcription Pathway 4 YAP1- and WWTR1 (TAZ)-stimulated gene expression 5 Interleukin-11 Signaling Pathway
Pathway sources See GeneCards unified pathways Show all pathways 2 EMD Millipore Pathways for RUNX2 1 R&D Systems Pathway for RUNX2 2 GeneGo (Thomson Reuters) Pathways for RUNX2 5/11 BioSystems Pathways for RUNX2 (see all 11 ) 3
Reactome Pathways for RUNX2
RUNX2 for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RUNX2 STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)5/68 Interacting proteins for RUNX2 (Q13950 1 , 3 ENSP00000352514 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 68 )About this table Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31 ): About this table
RUNX2 for ontologies About GeneDecksing
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Drugs & Compoundsfor RUNX2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
RUNX2 for compounds About GeneDecksing Browse Tocris compounds for RUNX2 10/46 Novoseek chemical compound relationships for RUNX2 gene (see all 46 ) About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
alizarin
80.6
2
15853967 (1), 18847334 (1)
dexamethasone
58.3
64
17950631 (8), 15368363 (4), 11135373 (3), 17707772 (3) (see all 19 )
hydroxyapatite
54.3
3
17516856 (1), 20398935 (1), 20077014 (1)
polycaprolactone
48.6
1
20398935 (1)
tgf beta1
44.9
5
15107836 (3), 18554936 (1)
titanium
43.8
8
16634490 (2), 17049981 (1), 18688796 (1), 19733525 (1) (see all 5 )
ascorbic acid
42.4
29
17274723 (3), 14648194 (2), 11771655 (1), 17956465 (1) (see all 7 )
strontium ranelate
39.2
4
17300752 (2), 17579299 (1), 19563530 (1)
calcium
34.5
13
16637042 (1), 18160010 (1), 18366626 (1), 17702986 (1) (see all 13 )
pd 98,059
33.4
8
19807253 (2), 10660618 (1), 19438323 (1), 20517899 (1) (see all 5 )
Search CenterWatch for drugs/clinical trials and news about RUNX2
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Transcriptsfor RUNX2 gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for RUNX2 gene (3 alternative transcripts): NM_001015051.3 NM_001024630.3 NM_004348.3 Unigene Cluster for RUNX2:
Runt-related transcription factor 2 Hs.535845 [show with all ESTs ] Unigene Representative Sequence: NM_004348 12 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000483377 ENST00000483243 (uc003oxs.1 ) ENST00000465038 ENST00000371438 (uc011dvx.2 uc011dvy.2 )ENST00000371436 ENST00000576263 ENST00000473041 ENST00000478660 ENST00000359524 ENST00000352853 ENST00000541979 ENST00000371432 (uc003oxt.3 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for RUNX2 (see all 6 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for RUNX2 (see all 4 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector (see all 3 ): RUNX2 (NM_001024630 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RUNX2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat RUNX2
Additional cDNA sequence: AF053952.1 AF087960.1 AL353944.1 BC108919.1 BC108920.1 L40992.1
7 DOTS entries : DT.95361643 DT.40189380
DT.208720 DT.121388720 DT.99997401 DT.40125005 DT.40125006 11 AceView cDNA sequences :
BX108677 AF053952 AW469546 AW850703 AW592551 AI738968 AA970073 AI394663 AW296595 AA779817 AW023513 GeneLoc Exon Structure
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Expression for RUNX2 gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section RUNX2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image RUNX2 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 10/109 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 109 ) Tissue Anatomical Compartment
Cell Category (developmental path) Bone Autopod Epiphyseal End Chondrocytes Bone, Cartilage Bone Autopod Growth Plate Hypertrophic Chondrocytes Bone, Cartilage Bone Autopod Growth Plate Prehypertrophic Chondrocytes Bone, Cartilage Bone Autopod Growth Plate Terminal Chondrocytes Bone, Cartilage Bone Autopod Perichondrium Endochondral Preosteoblasts Bone Bone Autopod Periosteum Endochondral Osteoblasts Bone Bone Autopod Periosteum Immature Endochondral Osteoblasts Bone Bone Caudal Endochondral Bones Endochondral Osteoblasts Bone Bone Caudal Endochondral Bones Endochondral Preosteoblasts Bone Bone Caudal Endochondral Bones Hypertrophic Chondrocytes Bone, Cartilage Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
Stem Cell Differentiation: 10/11 LifeMap Cells (see all 11 ) Name Category Mesenchymal Precursor Cells (STRO-3 selected) (Adult Stem / Progenitor Cell)Bone PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage PureStem™ progenitor E68 (Embryonic Progenitor Cell)PureStem™ progenitor EN13 (Embryonic Progenitor Cell)PureStem™ progenitor EN7 (Embryonic Progenitor Cell)Chondrocyte-like cells (Direct differentiati... )Bone, Cartilage Mesoderm-like cells (Direct differentiati... )Mesoderm Mesendoderm cells (Generation of skelet... )Connective tissue progenitor cells (Generation of connec... )
See RUNX2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for RUNX2 SOURCE GeneReport for Unigene cluster: Hs.535845 UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950 Tissue specificity : Specifically expressed in osteoblasts SABiosciences Expression via Pathway-Focused PCR Arrays including RUNX2 (see all 8 ): Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for RUNX2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat RUNX2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat RUNX2 Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RUNX2 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUNX2
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Orthologsfor RUNX2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of animals.
Orthologs for RUNX2 gene from 6/18 species (see all 18 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
mouse (Mus musculus)
Mammalia
Runx21 , 5
runt related transcription factor 21, 5
93.92(n) 1 98.85(a) 1
 
17 (21.33 cM) 5 12393 1 NM_001146038.1 1 NP_001139510.1 1 44495987 5
chicken (Gallus gallus)
Aves
RUNX21
runt-related transcription factor 2
88.06(n) 97.03(a)
 
373919 NM_204128.1 NP_989459.1
lizard (Anolis carolinensis)
Reptilia
RUNX26
--
94(a)
1 ↔ 1
1(138869690-139054248)
zebrafish (Danio rerio)
Actinopterygii
runx2a1
runt-related transcription factor 2a
76.86(n) 88.43(a)
 
405784 NM_212858.2 NP_998023.1
fruit fly (Drosophila melanogaster)
Insecta
lz3
antennal morphogenesis transcription factor
76(a) (best of 4)
 
1 8D12 --
worm (Caenorhabditis elegans)
Secernentea
rnt-11
Protein RNT-1
41.17(n) 37.54(a)
 
172243 NM_059278.4 NP_491679.1
ENSEMBL Gene Tree for RUNX2 (if available)TreeFam Gene Tree for RUNX2 (if available)
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Paralogsfor RUNX2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for RUNX2 gene RUNX1 2 RUNX3 2 5 SIMAP similar genes for RUNX2 using alignment to 9 protein entries: RUNX2_HUMAN (see all proteins ):RUNX1/C20orf112 fusion C20orf112/RUNX1 fusion RUNX1 RUNX3 RUNX1/CBFA2T2 fusion
RUNX2 for paralogs About GeneDecksing
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Genomic Variantsfor RUNX2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 6 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for RUNX2 (45295894 - 45545894 bp, first 250kb of RUNX2)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for RUNX2 1 CNV : 99524 Human Gene Mutation Database (HGMD) : RUNX2 SABiosciences Cancer Mutation PCR Assays
1 SABiosciences qBiomarker Copy Number PCR Array containing RUNX2 :
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing RUNX2
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Disorders
/ Diseasesfor RUNX2 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
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RUNX2 for disorders About GeneDecksing OMIM gene information: 600211 OMIM disorders : 119600 UniProtKB/Swiss-Prot: RUNX2_HUMAN, Q13950
Defects in RUNX2 are the cause of cleidocranial dysplasia (CLCD) [MIM:119600]; also known as cleidocranial dysostosis (CCD). CLCD is an autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies 20/66 diseases for RUNX2 (see all 66 ): About MalaCards cleidocranial dysplasia acute myeloid leukemia dental anomalies, isolated myeloid leukemia saethre-chotzen syndrome craniofacial anomalies williams-beuren syndrome ossifying fibroma craniofacial abnormalities fibrous dysplasia leukemia tooth agenesis hyperphosphatemia short stature acrocephalosyndactylia pfeiffer syndrome secondary hyperparathyroidism arterial calcification osteopetrosis osteolysis 5 diseases from the University of Copenhagen DISEASES database for RUNX2 :Cleidocranial dysplasia Osteoporosis Craniosynostosis Osteoarthritis Cancer 10/44 Novoseek disease relationships for RUNX2 gene (see all 44 ) About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
cleidocranial dysplasia
95
71
11321595 (2), 11459326 (2), 16270353 (2), 19515746 (2) (see all 52 )
supernumerary teeth
74.4
2
17973689 (1), 10521292 (1)
calcification
70.9
50
18378684 (4), 17538568 (3), 11684076 (2), 16837922 (2) (see all 37 )
osteosarcoma
64
42
19739101 (5), 19688969 (5), 19894220 (3), 20465837 (3) (see all 19 )
skeletal dysplasia
63.2
4
15952089 (1), 9434946 (1), 18424451 (1), 20014132 (1)
osteoporosis
58.4
11
18755791 (1), 16901655 (1), 19877060 (1), 12638206 (1) (see all 10 )
bone diseases
56.4
14
17725488 (1), 18829534 (1), 19915614 (1), 17165130 (1) (see all 12 )
osteolytic
50.2
11
15231660 (3), 17165130 (2), 15665096 (2), 18829534 (1) (see all 5 )
ossification heterotopic
48.7
5
19940863 (4), 19543517 (1)
skeletal disorder
47.5
5
17290219 (1), 12682904 (1), 19734454 (1), 9182764 (1)
GeneTests: RUNX2 Cleidocranial Dysplasia Genetic Association Database (GAD): RUNX2 Human Genome Epidemiology (HuGE) Navigator: RUNX2 (23 documents) Export disorders for RUNX2 gene to outside databases
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Publicationsfor RUNX2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for RUNX2 gene, integrated from 9 sources (see all 848 ): (articles sorted by number of sources associating them with RUNX2) Utopia : connect your pdf to the dynamic world of online information
Cell cycle-dependent phosphorylation of the RUNX2 transcription factor by cdc2 regulates endothelial cell proliferation. (PubMed id 16407259) 1 , 2 , 9 Qiao M....Passaniti A. (2006) Four novel RUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype. (PubMed id 16270353) 1 , 2 , 9 Kim H.J....Choi J.Y. (2006) MOZ and MORF histone acetyltransferases interact with the Runt-domain transcription factor Runx2. (PubMed id 11965546) 1 , 2 , 9 Pelletier N.... Yang X.-J. (2002) Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. (PubMed id 12196916) 1 , 2 , 9 Yoshida T....Shigesada K. (2002) Variation in femoral length is associated with polymorphisms in RUNX2 gene. (PubMed id 16198163) 1 , 4, 9 Ermakov S....Livshits G. (2006) A novel RUNX2 mutation (T420I) in Chinese patients wi th cleidocranial dysplasia. (PubMed id 20082269) 1 , 2 , 9 Wang G.X....Song F.L. (2010) RUNX2 mutations in cleidocranial dysplasia patients. (PubMed id 19744171) 1 , 2 , 9 Ryoo H.M....Kim J.W. (2010) Regulation of osteocalcin gene expression by a novel Ku antigen transcription factor complex. (PubMed id 12145306) 1 , 2 , 9 Willis D.M.... Towler D.A. (2002) Alleles of RUNX2/CBFA1 gene are associated with differences in bone mineral density and risk of fracture. (PubMed id 12162506) 1 , 4, 9 Vaughan T....Morrison N.A. (2002) Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. (PubMed id 11857736) 1 , 2 , 9 Otto F....Mundlos S. (2002)
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External Searches for RUNX2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing RUNX2 gene
(According to
Entrez Gene ,
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AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
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(According to HUGE )
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Specialized Databases showing RUNX2 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for RUNX2 gene: Search GeneIP for patents involving RUNX2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor RUNX2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for RUNX2 OriGene shRNA RFP for RUNX2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for RUNX2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for RUNX2 OriGene Protein Over-expression Lysate for RUNX2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for RUNX2 OriGene 3'-UTR Clone for RUNX2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for RUNX2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for RUNX2 Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for RUNX2 OriGene Custom Protein Services for RUNX2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RUNX2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing RUNX2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat RUNX2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat RUNX2 Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RUNX2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat RUNX2
Antibodies & Assays for RUNX2   (AML3)
Search Tocris compounds for RUNX2
RUNX2 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUNX2
ThermoFisher Antibodies for RUNX2
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat RUNX2
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