UniProtKB - Q13950 (RUNX2_HUMAN)

BLAST

>sp|Q13950|RUNX2_HUMAN Runt-related transcription factor 2 OS=Homo sapiens OX=9606 GN=RUNX2 PE=1 SV=2
MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQ
QQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPN
FLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVA
RFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSKPS
LFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYD
QSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKS
QAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHT
YLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGS
TLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY

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History
Entry version 187 (12 Sep 2018)
Sequence version 2 (02 Nov 2001)
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Protein

Runt-related transcription factor 2

Gene

RUNX2

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28738062, PubMed:28703881). Essential for the maturation 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.By similarity4 Publications

GO - Molecular functionⁱ

ATP binding Source: InterPro
bHLH transcription factor binding Source: Ensembl
chromatin binding Source: Ensembl
DNA-binding transcription factor activity
Source: ProtInc
Non-traceable author statementⁱ
- 9182765
protein domain specific binding Source: Ensembl
repressing transcription factor binding Source: Ensembl
RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

BMP signaling pathway Source: BHF-UCL
cell maturation Source: Ensembl
cellular response to BMP stimulus Source: BHF-UCL
chondrocyte development Source: Ensembl
chondrocyte differentiation Source: GO_Central
embryonic cranial skeleton morphogenesis Source: Ensembl
embryonic forelimb morphogenesis Source: Ensembl
endochondral ossification Source: Ensembl
hemopoiesis Source: GO_Central
negative regulation of smoothened signaling pathway Source: Ensembl
negative regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from direct assayⁱ
- 11965546
neuron differentiation Source: GO_Central
odontogenesis of dentin-containing tooth Source: Ensembl
ossification
Source: UniProtKB
Traceable author statementⁱ
- 12217689
osteoblast development Source: Ensembl
osteoblast differentiation
Source: UniProtKB
Inferred from expression patternⁱ
- 20128911
osteoblast fate commitment Source: Ensembl
positive regulation of cell proliferation Source: Ensembl
positive regulation of chondrocyte differentiation Source: Ensembl
positive regulation of osteoblast differentiation
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 28703881
positive regulation of transcription, DNA-templated
Source: UniProtKB
Inferred from direct assayⁱ
- 11965546
positive regulation of transcription by RNA polymerase II
Source: UniProtKB
Inferred from mutant phenotypeⁱ
positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus Source: BHF-UCL
regulation of cell differentiation Source: GO_Central
regulation of fibroblast growth factor receptor signaling pathway Source: Ensembl
regulation of odontogenesis of dentin-containing tooth Source: Ensembl
regulation of transcription by RNA polymerase II Source: GO_Central
stem cell differentiation Source: Ensembl
T cell differentiation Source: Ensembl
transcription initiation from RNA polymerase II promoter Source: Reactome

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	DNA-binding
Biological process	Differentiation, Transcription, Transcription regulation

Enzyme and pathway databases

Reactomeⁱ	R-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression R-HSA-8878166 Transcriptional regulation by RUNX2 R-HSA-8939246 RUNX1 regulates transcription of genes involved in differentiation of myeloid cells R-HSA-8939902 Regulation of RUNX2 expression and activity R-HSA-8940973 RUNX2 regulates osteoblast differentiation R-HSA-8941284 RUNX2 regulates chondrocyte maturation R-HSA-8941326 RUNX2 regulates bone development R-HSA-8941332 RUNX2 regulates genes involved in cell migration R-HSA-8941333 RUNX2 regulates genes involved in differentiation of myeloid cells
SignaLinkⁱ	Q13950
SIGNORⁱ	Q13950

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Runt-related transcription factor 2 Alternative name(s): Acute myeloid leukemia 3 protein Core-binding factor subunit alpha-1 Short name: CBF-alpha-1 Oncogene AML-3 Osteoblast-specific transcription factor 2 Short name: OSF-2 Polyomavirus enhancer-binding protein 2 alpha A subunit Short name: PEA2-alpha A Short name: PEBP2-alpha A SL3-3 enhancer factor 1 alpha A subunit SL3/AKV core-binding factor alpha A subunit
Gene namesⁱ	Name:RUNX2 Synonyms:AML3, CBFA1, OSF2, PEBP2A
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 6

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000124813.20
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:10472 RUNX2
MIMⁱ	600211 gene
neXtProtⁱ	NX_Q13950

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Cleidocranial dysplasia (CLCD)18 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAutosomal 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.

Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB)1 Publication

The disease is caused by mutations affecting the gene represented in this entry. Analysis for copy-number variations revealed that a 105 kb duplication within RUNX2 segregated with the MDMHB phenotype in a region with maximum linkage. Real-time PCR for copy-number variation in genomic DNA in eight samples, as well as sequence analysis of fibroblast cDNA from one subject with MDMHB confirmed that affected family members were heterozygous for the presence of an intragenic duplication encompassing exons 3 to 5 of RUNX2. These three exons code for the Q/A domain and the functionally essential DNA-binding Runt domain of RUNX2. The RUNX2 duplication found in individuals with MDMHB leads to a gain of function (PubMed:23290074).1 Publication

Disease descriptionAn autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Mutagenesisⁱ	451	S → A: Reduced DNA-binding and impaired phosphorylation. 1 Publication		1

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	860
GeneReviewsⁱ	RUNX2
MalaCards human disease database More...MalaCardsⁱ	RUNX2
MIMⁱ	119600 phenotype 156510 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000124813
Orphanetⁱ	1452 Cleidocranial dysplasia 2504 Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
PharmGKBⁱ	PA34885

Polymorphism and mutation databases

BioMutaⁱ	RUNX2
DMDMⁱ	17368460

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000174659	1 – 521	Runt-related transcription factor 2Add BLAST		521

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Cross-linkⁱ	238	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residueⁱ	267	Asymmetric dimethylarginineBy similarity	1
Modified residueⁱ	451	Phosphoserine; by CDK11 Publication	1
Isoform 3 (identifier: Q13950-3)
Modified residueⁱ	340	PhosphoserineCombined sources	1

Post-translational modificationⁱ

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-340.By similarity1 Publication

Keywords - PTMⁱ

Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDⁱ	Q13950
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q13950
PaxDbⁱ	Q13950
PeptideAtlas More...PeptideAtlasⁱ	Q13950
PRIDEⁱ	Q13950
ProteomicsDBⁱ	59767 59768 [Q13950-2] 59769 [Q13950-3]

PTM databases

iPTMnetⁱ	Q13950
PhosphoSitePlusⁱ	Q13950
SwissPalmⁱ	Q13950

Expressionⁱ

Tissue specificityⁱ

Specifically expressed in osteoblasts.

Gene expression databases

Bgeeⁱ	ENSG00000124813 Expressed in 166 organ(s), highest expression level in tibia
CleanExⁱ	HS_RUNX2
ExpressionAtlasⁱ	Q13950 baseline and differential
Genevisibleⁱ	Q13950 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB008374 CAB062561 CAB068226 HPA022040

HPAⁱ

CAB008374
CAB062561
CAB068226
HPA022040

Interactionⁱ

Subunit structureⁱ

Heterodimer of an alpha and a beta subunit. The alpha subunit binds DNA as a monomer and through the Runt domain. 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. Interacts with FOXP3. Interacts with TMEM119 (By similarity). Interacts with OLFM2 (By similarity).By similarity4 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
PIN1	Q13526	7	EBI-976402,EBI-714158
PPM1D	O15297	4	EBI-976402,EBI-1551512
SMAD6	O43541	3	EBI-976402,EBI-976374
TP73	O15350	3	EBI-976402,EBI-389606
UBTF	P17480	4	EBI-976402,EBI-396235

GO - Molecular functionⁱ

bHLH transcription factor binding Source: Ensembl
protein domain specific binding Source: Ensembl
repressing transcription factor binding Source: Ensembl

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	107308, 46 interactors
Database of interacting proteins More...DIPⁱ	DIP-36707N
ELMⁱ	Q13950
IntActⁱ	Q13950, 18 interactors
Molecular INTeraction database More...MINTⁱ	Q13950
STRINGⁱ	9606.ENSP00000360493

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q13950
SMRⁱ	Q13950
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	101 – 229	RuntPROSITE-ProRule annotationAdd BLAST		129

Region

Feature key	Position(s)	DescriptionActions	Length
Regionⁱ	242 – 258	Required for interaction with FOXO1By similarityAdd BLAST	17
Regionⁱ	336 – 439	Interaction with KAT6ABy similarityAdd BLAST	104
Regionⁱ	374 – 468	Interaction with KAT6B1 PublicationAdd BLAST	95

Compositional bias

Feature key	Position(s)	DescriptionActions	Length
Compositional biasⁱ	49 – 71	Poly-GlnAdd BLAST	23
Compositional biasⁱ	73 – 89	Poly-AlaAdd BLAST	17
Compositional biasⁱ	237 – 521	Pro/Ser/Thr-richAdd BLAST	285

Domainⁱ

A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes and contains the phosphorylation sites.

Phylogenomic databases

eggNOGⁱ	KOG3982 Eukaryota ENOG4111J4Y LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000016964
HOGENOMⁱ	HOG000045616
HOVERGENⁱ	HBG060268
InParanoidⁱ	Q13950
KEGG Orthology (KO) More...KOⁱ	K09278
OMAⁱ	SDPRQFT
PhylomeDBⁱ	Q13950
TreeFamⁱ	TF321496

Family and domain databases

Gene3Dⁱ	2.60.40.720, 1 hit 4.10.770.10, 1 hit
InterProⁱ	View protein in InterPro IPR000040 AML1_Runt IPR008967 p53-like_TF_DNA-bd IPR012346 p53/RUNT-type_TF_DNA-bd_sf IPR013524 Runt_dom IPR027384 Runx_central_dom_sf IPR013711 RunxI_C_dom IPR016554 TF_Runt-rel_RUNX
PANTHERⁱ	PTHR11950 PTHR11950, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00853 Runt, 1 hit PF08504 RunxI, 1 hit
PIRSFⁱ	PIRSF009374 TF_Runt-rel_RUNX, 1 hit
PRINTSⁱ	PR00967 ONCOGENEAML1
SUPFAMⁱ	SSF49417 SSF49417, 1 hit
PROSITEⁱ	View protein in PROSITE PS51062 RUNT, 1 hit

Sequences (3+)ⁱ

Sequence statusⁱ: Complete.

This entry describes 3 isoformsⁱ produced by alternative splicing. Align Add to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q13950-1) [UniParc]FASTA Add to basket

Also known as: Cbfa1a

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MASNSLFSTV TPCQQNFFWD PSTSRRFSPP SSSLQPGKMS DVSPVVAAQQ 
        60         70         80         90        100
QQQQQQQQQQ QQQQQQQQQQ QEAAAAAAAA AAAAAAAAAV PRLRPPHDNR 
       110        120        130        140        150
TMVEIIADHP AELVRTDSPN FLCSVLPSHW RCNKTLPVAF KVVALGEVPD 
       160        170        180        190        200
GTVVTVMAGN DENYSAELRN ASAVMKNQVA RFNDLRFVGR SGRGKSFTLT 
       210        220        230        240        250
ITVFTNPPQV ATYHRAIKVT VDGPREPRRH RQKLDDSKPS LFSDRLSDLG 
       260        270        280        290        300
RIPHPSMRVG VPPQNPRPSL NSAPSPFNPQ GQSQITDPRQ AQSSPPWSYD 
       310        320        330        340        350
QSYPSYLSQM TSPSIHSTTP LSSTRGTGLP AITDVPRRIS DDDTATSDFC 
       360        370        380        390        400
LWPSTLSKKS QAGASELGPF SDPRQFPSIS SLTESRFSNP RMHYPATFTY 
       410        420        430        440        450
TPPVTSGMSL GMSATTHYHT YLPPPYPGSS QSQSGPFQTS STPYLYYGTS 
       460        470        480        490        500
SGSYQFPMVP GGDRSPSRML PPCTTTSNGS TLLNPNLPNQ NDGVDADGSH 
       510        520 
SSSPTVLNSS GRMDESVWRP Y

Length:521

Mass (Da):56,648

Last modified:November 2, 2001 - v2

Checksum:ⁱ44C4F3867D6F3EB1

Isoform 2 (identifier: Q13950-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-19: MASNSLFSTVTPCQQNFFW → MRIPV

« Hide

        10         20         30         40         50
MRIPVDPSTS RRFSPPSSSL QPGKMSDVSP VVAAQQQQQQ QQQQQQQQQQ 
        60         70         80         90        100
QQQQQQQEAA AAAAAAAAAA AAAAAVPRLR PPHDNRTMVE IIADHPAELV 
       110        120        130        140        150
RTDSPNFLCS VLPSHWRCNK TLPVAFKVVA LGEVPDGTVV TVMAGNDENY 
       160        170        180        190        200
SAELRNASAV MKNQVARFND LRFVGRSGRG KSFTLTITVF TNPPQVATYH 
       210        220        230        240        250
RAIKVTVDGP REPRRHRQKL DDSKPSLFSD RLSDLGRIPH PSMRVGVPPQ 
       260        270        280        290        300
NPRPSLNSAP SPFNPQGQSQ ITDPRQAQSS PPWSYDQSYP SYLSQMTSPS 
       310        320        330        340        350
IHSTTPLSST RGTGLPAITD VPRRISDDDT ATSDFCLWPS TLSKKSQAGA 
       360        370        380        390        400
SELGPFSDPR QFPSISSLTE SRFSNPRMHY PATFTYTPPV TSGMSLGMSA 
       410        420        430        440        450
TTHYHTYLPP PYPGSSQSQS GPFQTSSTPY LYYGTSSGSY QFPMVPGGDR 
       460        470        480        490        500
SPSRMLPPCT TTSNGSTLLN PNLPNQNDGV DADGSHSSSP TVLNSSGRMD 

ESVWRPY

Show »

Length:507

Mass (Da):55,054

Checksum:ⁱ7228C267328DE1DC

Isoform 3 (identifier: Q13950-3) [UniParc]FASTA Add to basket

Also known as: Cbfa1b

The sequence of this isoform differs from the canonical sequence as follows:
341-362: Missing.

« Hide

        10         20         30         40         50
MASNSLFSTV TPCQQNFFWD PSTSRRFSPP SSSLQPGKMS DVSPVVAAQQ 
        60         70         80         90        100
QQQQQQQQQQ QQQQQQQQQQ QEAAAAAAAA AAAAAAAAAV PRLRPPHDNR 
       110        120        130        140        150
TMVEIIADHP AELVRTDSPN FLCSVLPSHW RCNKTLPVAF KVVALGEVPD 
       160        170        180        190        200
GTVVTVMAGN DENYSAELRN ASAVMKNQVA RFNDLRFVGR SGRGKSFTLT 
       210        220        230        240        250
ITVFTNPPQV ATYHRAIKVT VDGPREPRRH RQKLDDSKPS LFSDRLSDLG 
       260        270        280        290        300
RIPHPSMRVG VPPQNPRPSL NSAPSPFNPQ GQSQITDPRQ AQSSPPWSYD 
       310        320        330        340        350
QSYPSYLSQM TSPSIHSTTP LSSTRGTGLP AITDVPRRIS GASELGPFSD 
       360        370        380        390        400
PRQFPSISSL TESRFSNPRM HYPATFTYTP PVTSGMSLGM SATTHYHTYL 
       410        420        430        440        450
PPPYPGSSQS QSGPFQTSST PYLYYGTSSG SYQFPMVPGG DRSPSRMLPP 
       460        470        480        490 
CTTTSNGSTL LNPNLPNQND GVDADGSHSS SPTVLNSSGR MDESVWRPY

Show »

Length:499

Mass (Da):54,249

Checksum:ⁱ4BA956230C96EB2E

Computationally mapped potential isoform sequencesⁱ

There are 5 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

A0A0D9SEN7	A0A0D9SEN7_HUMAN	Runt-related transcription factor Runt-related transcription factor	RUNX2	485	Annotation score:
I3L0L0	I3L0L0_HUMAN	Runt-related transcription factor 2 Runt-related transcription factor 2	RUNX2	542	Annotation score:
I3L354	I3L354_HUMAN	Runt-related transcription factor 2 Runt-related transcription factor 2	RUNX2	276	Annotation score:
A0A2R8Y7Z3	A0A2R8Y7Z3_HUMAN	Runt-related transcription factor 2 Runt-related transcription factor 2	RUNX2	334	Annotation score:
I3L4L9	I3L4L9_HUMAN	Runt-related transcription factor 2 Runt-related transcription factor 2	RUNX2	37	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	16	N → S in AAC77441 (PubMed:9651525).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_064081	53	Q → L in CLCD. 1 Publication	1
Natural variantⁱVAR_079576	67 – 521	Missing in CLCD; decreased subcellular localization in the nucleus; decreased transactivation activity. 1 PublicationAdd BLAST	455
Natural variantⁱVAR_012131	78 – 83	Missing 1 Publication	6
Natural variantⁱVAR_012130	84	A → AAAAAAAAAAA in CLCD; the patient also shows brachydactyly of hands and feet. 1 Publication	1
Natural variantⁱVAR_012132	113	L → R in CLCD; unchanged subcellular localization; decreased transactivation activity. 2 Publications	1
Natural variantⁱVAR_064082	118	S → N in CLCD. 1 Publication	1
Natural variantⁱVAR_012133	118	S → R in CLCD. 1 Publication	1
Natural variantⁱVAR_012134	121	F → C in CLCD. 1 Publication	1
Natural variantⁱVAR_012135	123	C → R in CLCD. 1 Publication	1
Natural variantⁱVAR_064083	131	R → C in CLCD. 2 Publications	1
Natural variantⁱVAR_064084	131	R → G in CLCD. 1 Publication	1
Natural variantⁱVAR_064085	131	R → S in CLCD. 1 Publication	1
Natural variantⁱVAR_012136	133	Missing in CLCD. 1 Publication	1
Natural variantⁱVAR_064086	136	L → P in CLCD. 1 Publication	1
Natural variantⁱVAR_064087	156	V → D in CLCD. 1 Publication	1
Natural variantⁱVAR_064088	156	V → G in CLCD. 1 Publication	1
Natural variantⁱVAR_064089	169	R → P in CLCD. 2 PublicationsCorresponds to variant dbSNP:rs104893995EnsemblClinVar.	1
Natural variantⁱVAR_012137	169	R → Q in CLCD. 1 PublicationCorresponds to variant dbSNP:rs104893995EnsemblClinVar.	1
Natural variantⁱVAR_064090	175	M → K in CLCD. 1 Publication	1
Natural variantⁱVAR_012138	175	M → R in CLCD; abolishes DNA binding. 3 PublicationsCorresponds to variant dbSNP:rs104893989EnsemblClinVar.	1
Natural variantⁱVAR_064091	175	M → V in CLCD. 1 PublicationCorresponds to variant dbSNP:rs201647225Ensembl.	1
Natural variantⁱVAR_079577	186	R → T in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication	1
Natural variantⁱVAR_064092	187	F → S in CLCD. 1 Publication	1
Natural variantⁱVAR_012139	190	R → Q in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs1057521068Ensembl.	1
Natural variantⁱVAR_012140	190	R → W in CLCD; has severely impaired DNA binding and transactivation. 3 Publications	1
Natural variantⁱVAR_012141	191	S → N in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant dbSNP:rs104893990EnsemblClinVar.	1
Natural variantⁱVAR_012142	193	R → C in CLCD. 1 Publication	1
Natural variantⁱVAR_079578	193	R → G in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 Publication	1
Natural variantⁱVAR_064093	193	R → Q in CLCD. 1 Publication	1
Natural variantⁱVAR_012143	197	F → S in CLCD; retains heterodimerization activity together with a trace potential for DNA binding; retains a low but still substantial transactivation activity. 2 Publications	1
Natural variantⁱVAR_012144	199	L → F in CLCD; abolishes DNA binding. 1 Publication	1
Natural variantⁱVAR_012145	200	T → A in CLCD; mild; associated also with isolated dental anomalies; normal DNA binding. 1 PublicationCorresponds to variant dbSNP:rs104893993EnsemblClinVar.	1
Natural variantⁱVAR_064094	200	T → I in CLCD. 1 Publication	1
Natural variantⁱVAR_064095	201	I → K in CLCD. 1 Publication	1
Natural variantⁱVAR_012146	205	T → R in CLCD. 1 Publication	1
Natural variantⁱVAR_064096	209	Q → H in CLCD. 1 Publication	1
Natural variantⁱVAR_012147	209	Q → R in CLCD. 1 Publication	1
Natural variantⁱVAR_064097	211	A → P in CLCD. 1 Publication	1
Natural variantⁱVAR_064098	218	K → E in CLCD. 1 Publication	1
Natural variantⁱVAR_064099	218	K → N in CLCD; has severely impaired DNA binding and transactivation. 1 PublicationCorresponds to variant dbSNP:rs752933596Ensembl.	1
Natural variantⁱVAR_064100	218	K → Q in CLCD. 1 Publication	1
Natural variantⁱVAR_064101	220	T → I in CLCD; has severely impaired DNA binding and transactivation. 1 Publication	1
Natural variantⁱVAR_064102	225	R → L in CLCD. 1 Publication	1
Natural variantⁱVAR_012148	225	R → Q in CLCD; interferes with nuclear localization; abolishes DNA binding. 6 PublicationsCorresponds to variant dbSNP:rs104893991EnsemblClinVar.	1
Natural variantⁱVAR_012149	225	R → W in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation. 5 PublicationsCorresponds to variant dbSNP:rs104893992EnsemblClinVar.	1
Natural variantⁱVAR_064103	228	R → G in CLCD. 1 Publication	1
Natural variantⁱVAR_064104	233	K → R in CLCD. 1 Publication	1
Natural variantⁱVAR_064105	287	D → N in CLCD. 1 Publication	1
Natural variantⁱVAR_064106	362	A → V in CLCD. 1 Publication	1
Natural variantⁱVAR_079579	400 – 521	Missing in CLCD; unchanged subcellular localization; decreased transactivation activity. 1 PublicationAdd BLAST	122
Natural variantⁱVAR_064107	420	T → I in CLCD. 1 Publication	1
Natural variantⁱVAR_064108	420	T → N in CLCD. 1 Publication	1
Natural variantⁱVAR_079580	462 – 521	Missing in CLCD; decreased protein stability; decreased transactivation activity; decreased osteoblast differentiation. 1 PublicationAdd BLAST	60
Natural variantⁱVAR_012150	511	G → S1 PublicationCorresponds to variant dbSNP:rs11498198EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_005937	1 – 19	MASNS…QNFFW → MRIPV in isoform 2. CuratedAdd BLAST		19
Alternative sequenceⁱVSP_005938	341 – 362	Missing in isoform 3. 1 PublicationAdd BLAST		22

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF001450 AF001449 Genomic DNA Translation: AAB65159.2 AF001450 AF001449 Genomic DNA Translation: AAB65158.1 AL161907 Genomic DNA No translation available. AL358135 Genomic DNA No translation available. AL096865 Genomic DNA No translation available. AF053952 mRNA Translation: AAC78624.1 AF053949 Genomic DNA Translation: AAC77441.1 L40992 mRNA Translation: AAA89072.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS43467.2 [Q13950-1] CCDS43468.2 [Q13950-3]
NCBI Reference Sequences More...RefSeqⁱ	NP_001015051.3, NM_001015051.3 [Q13950-3] NP_001019801.3, NM_001024630.3 [Q13950-1]
UniGeneⁱ	Hs.535845

Genome annotation databases

Ensemblⁱ	ENST00000359524; ENSP00000352514; ENSG00000124813 [Q13950-2] ENST00000371432; ENSP00000360486; ENSG00000124813 [Q13950-3] ENST00000371436; ENSP00000360491; ENSG00000124813 [Q13950-3] ENST00000371438; ENSP00000360493; ENSG00000124813 [Q13950-1] ENST00000465038; ENSP00000420707; ENSG00000124813 [Q13950-1] ENST00000647337; ENSP00000495497; ENSG00000124813 [Q13950-1]
GeneIDⁱ	860
KEGGⁱ	hsa:860
UCSC genome browser More...UCSCⁱ	uc003oxt.5 human [Q13950-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q13950	Uncharacterized protein		PONAB		589	UniRef100_Q13950
Runt-related transcription factor		PONAB		521
Q13950-2	Runt-related transcription factor		PONAB		507	UniRef100_A0A2J8Y4Y0
Q13950-3	Runt-related transcription factor		PONAB		499	UniRef100_A0A2J8Y4Z1
UPI0000E5DA66		PONAB		567

Protein	Similar proteins		Species	Score	Length	Source
Q13950	Runt-related transcription factor 2		MOUSE		607	UniRef90_Q13950
Uncharacterized protein		PONAB		589
Uncharacterized protein		CERAT		635
Uncharacterized protein		MACFA		627
Runt-related transcription factor 2 (Fragment)		Pan troglodytes ellioti		66
+116
Q13950-2	Runt-related transcription factor		BOVIN		499	UniRef90_E1BAC1
Runt related transcription factor 2		TAEGU		565
runt-related transcription factor 2 isoform X2		ERIEU		559
Runt-related transcription factor		PONAB		507
Runt-related transcription factor		GORGO		506
+26
Q13950-3	Runt-related transcription factor		MONDO		494	UniRef90_F6VJL9
Uncharacterized protein		PIG		603
runt-related transcription factor 2 isoform X3		ODORO		571
Runt related transcription factor 2		PANTR		569
Uncharacterized protein		FELCA		562
+41

Protein	Similar proteins		Species	Score	Length	Source
Q13950	Runt-related transcription factor 2		MOUSE		607	UniRef50_Q13950
Uncharacterized protein		PONAB		589
Uncharacterized protein		CERAT		635
Uncharacterized protein		MACFA		627
Runt-related transcription factor 2 (Fragment)		Pan troglodytes ellioti		66
+207
Q13950-2	Isoform 8 of Runt-related transcription factor 2		MOUSE		548	UniRef50_Q08775-8
Uncharacterized protein		CAVPO		541
Runt-related transcription factor		COLAP		454
Runt-related transcription factor		MANLE		450
Runt-related transcription factor 2		HETGA		595
+175

Cross-referencesⁱ

Web resourcesⁱ

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF001450 AF001449 Genomic DNA Translation: AAB65159.2 AF001450 AF001449 Genomic DNA Translation: AAB65158.1 AL161907 Genomic DNA No translation available. AL358135 Genomic DNA No translation available. AL096865 Genomic DNA No translation available. AF053952 mRNA Translation: AAC78624.1 AF053949 Genomic DNA Translation: AAC77441.1 L40992 mRNA Translation: AAA89072.1
CCDSⁱ	CCDS43467.2 [Q13950-1] CCDS43468.2 [Q13950-3]
RefSeqⁱ	NP_001015051.3, NM_001015051.3 [Q13950-3] NP_001019801.3, NM_001024630.3 [Q13950-1]
UniGeneⁱ	Hs.535845

3D structure databases

ProteinModelPortalⁱ	Q13950
SMRⁱ	Q13950
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	107308, 46 interactors
DIPⁱ	DIP-36707N
ELMⁱ	Q13950
IntActⁱ	Q13950, 18 interactors
MINTⁱ	Q13950
STRINGⁱ	9606.ENSP00000360493

PTM databases

iPTMnetⁱ	Q13950
PhosphoSitePlusⁱ	Q13950
SwissPalmⁱ	Q13950

Polymorphism and mutation databases

BioMutaⁱ	RUNX2
DMDMⁱ	17368460

Proteomic databases

EPDⁱ	Q13950
MaxQBⁱ	Q13950
PaxDbⁱ	Q13950
PeptideAtlasⁱ	Q13950
PRIDEⁱ	Q13950
ProteomicsDBⁱ	59767 59768 [Q13950-2] 59769 [Q13950-3]

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	860
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000359524; ENSP00000352514; ENSG00000124813 [Q13950-2] ENST00000371432; ENSP00000360486; ENSG00000124813 [Q13950-3] ENST00000371436; ENSP00000360491; ENSG00000124813 [Q13950-3] ENST00000371438; ENSP00000360493; ENSG00000124813 [Q13950-1] ENST00000465038; ENSP00000420707; ENSG00000124813 [Q13950-1] ENST00000647337; ENSP00000495497; ENSG00000124813 [Q13950-1]
GeneIDⁱ	860
KEGGⁱ	hsa:860
UCSCⁱ	uc003oxt.5 human [Q13950-1]

Organism-specific databases

CTDⁱ	860
DisGeNETⁱ	860
EuPathDBⁱ	HostDB:ENSG00000124813.20
GeneCardsⁱ	RUNX2
GeneReviewsⁱ	RUNX2
HGNCⁱ	HGNC:10472 RUNX2
HPAⁱ	CAB008374 CAB062561 CAB068226 HPA022040
MalaCardsⁱ	RUNX2
MIMⁱ	119600 phenotype 156510 phenotype 600211 gene
neXtProtⁱ	NX_Q13950
OpenTargetsⁱ	ENSG00000124813
Orphanetⁱ	1452 Cleidocranial dysplasia 2504 Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
PharmGKBⁱ	PA34885
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3982 Eukaryota ENOG4111J4Y LUCA
GeneTreeⁱ	ENSGT00390000016964
HOGENOMⁱ	HOG000045616
HOVERGENⁱ	HBG060268
InParanoidⁱ	Q13950
KOⁱ	K09278
OMAⁱ	SDPRQFT
PhylomeDBⁱ	Q13950
TreeFamⁱ	TF321496

Enzyme and pathway databases

Reactomeⁱ	R-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expression R-HSA-8878166 Transcriptional regulation by RUNX2 R-HSA-8939246 RUNX1 regulates transcription of genes involved in differentiation of myeloid cells R-HSA-8939902 Regulation of RUNX2 expression and activity R-HSA-8940973 RUNX2 regulates osteoblast differentiation R-HSA-8941284 RUNX2 regulates chondrocyte maturation R-HSA-8941326 RUNX2 regulates bone development R-HSA-8941332 RUNX2 regulates genes involved in cell migration R-HSA-8941333 RUNX2 regulates genes involved in differentiation of myeloid cells
SignaLinkⁱ	Q13950
SIGNORⁱ	Q13950

Miscellaneous databases

ChiTaRSⁱ	RUNX2 human
GeneWikiⁱ	RUNX2
GenomeRNAiⁱ	860
Protein Ontology More...PROⁱ	PR:Q13950
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000124813 Expressed in 166 organ(s), highest expression level in tibia
CleanExⁱ	HS_RUNX2
ExpressionAtlasⁱ	Q13950 baseline and differential
Genevisibleⁱ	Q13950 HS

Family and domain databases

Gene3Dⁱ	2.60.40.720, 1 hit 4.10.770.10, 1 hit
InterProⁱ	View protein in InterPro IPR000040 AML1_Runt IPR008967 p53-like_TF_DNA-bd IPR012346 p53/RUNT-type_TF_DNA-bd_sf IPR013524 Runt_dom IPR027384 Runx_central_dom_sf IPR013711 RunxI_C_dom IPR016554 TF_Runt-rel_RUNX
PANTHERⁱ	PTHR11950 PTHR11950, 1 hit
Pfamⁱ	View protein in Pfam PF00853 Runt, 1 hit PF08504 RunxI, 1 hit
PIRSFⁱ	PIRSF009374 TF_Runt-rel_RUNX, 1 hit
PRINTSⁱ	PR00967 ONCOGENEAML1
SUPFAMⁱ	SSF49417 SSF49417, 1 hit
PROSITEⁱ	View protein in PROSITE PS51062 RUNT, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	RUNX2_HUMAN
Accessionⁱ	Q13950Primary (citable) accession number: Q13950 Secondary accession number(s): O14614, O14615, O95181
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	November 2, 2001
	Last sequence update:	November 2, 2001
	Last modified:	September 12, 2018
	This is version 187 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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UniProtKB - Q13950 (RUNX2_HUMAN)

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Runt-related transcription factor 2

RUNX2

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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Enzyme and pathway databases

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Keywords - PTMi

Proteomic databases

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Gene expression databases

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3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

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Keywords - Coding sequence diversityi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ