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Protein

Runt-related transcription factor 2

Gene

RUNX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. 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 similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124813-MONOMER.
ReactomeiR-HSA-2032785. YAP1- and WWTR1 (TAZ)-stimulated gene expression.
SignaLinkiQ13950.
SIGNORiQ13950.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:10472. RUNX2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Cleidocranial dysplasia (CLCD)14 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.
See also OMIM:119600
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06408153Q → L in CLCD. 1 Publication1
Natural variantiVAR_01213084A → AAAAAAAAAAA in CLCD; the patient also shows brachydactyly of hands and feet. 1 Publication1
Natural variantiVAR_012132113L → R in CLCD. 1 Publication1
Natural variantiVAR_064082118S → N in CLCD. 1 Publication1
Natural variantiVAR_012133118S → R in CLCD. 1 Publication1
Natural variantiVAR_012134121F → C in CLCD. 1 Publication1
Natural variantiVAR_012135123C → R in CLCD. 1 Publication1
Natural variantiVAR_064083131R → C in CLCD. 1 Publication1
Natural variantiVAR_064084131R → G in CLCD. 1 Publication1
Natural variantiVAR_064085131R → S in CLCD. 1 Publication1
Natural variantiVAR_012136133Missing in CLCD. 1 Publication1
Natural variantiVAR_064086136L → P in CLCD. 1 Publication1
Natural variantiVAR_064087156V → D in CLCD. 1 Publication1
Natural variantiVAR_064088156V → G in CLCD. 1 Publication1
Natural variantiVAR_064089169R → P in CLCD. 2 PublicationsCorresponds to variant rs104893995dbSNPEnsembl.1
Natural variantiVAR_012137169R → Q in CLCD. 1 PublicationCorresponds to variant rs104893995dbSNPEnsembl.1
Natural variantiVAR_064090175M → K in CLCD. 1 Publication1
Natural variantiVAR_012138175M → R in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant rs104893989dbSNPEnsembl.1
Natural variantiVAR_064091175M → V in CLCD. 1 PublicationCorresponds to variant rs201647225dbSNPEnsembl.1
Natural variantiVAR_064092187F → S in CLCD. 1 Publication1
Natural variantiVAR_012139190R → Q in CLCD; abolishes DNA binding. 1 Publication1
Natural variantiVAR_012140190R → W in CLCD; has severely impaired DNA binding and transactivation. 3 Publications1
Natural variantiVAR_012141191S → N in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant rs104893990dbSNPEnsembl.1
Natural variantiVAR_012142193R → C in CLCD. 1 Publication1
Natural variantiVAR_064093193R → Q in CLCD. 1 Publication1
Natural variantiVAR_012143197F → S in CLCD; retains heterodimerization activity together with a trace potential for DNA binding; retains a low but still substantial transactivation activity. 2 Publications1
Natural variantiVAR_012144199L → F in CLCD; abolishes DNA binding. 1 Publication1
Natural variantiVAR_012145200T → A in CLCD; mild; associated also with isolated dental anomalies; normal DNA binding. 1 PublicationCorresponds to variant rs104893993dbSNPEnsembl.1
Natural variantiVAR_064094200T → I in CLCD. 1 Publication1
Natural variantiVAR_064095201I → K in CLCD. 1 Publication1
Natural variantiVAR_012146205T → R in CLCD. 1 Publication1
Natural variantiVAR_064096209Q → H in CLCD. 1 Publication1
Natural variantiVAR_012147209Q → R in CLCD. 1 Publication1
Natural variantiVAR_064097211A → P in CLCD. 1 Publication1
Natural variantiVAR_064098218K → E in CLCD. 1 Publication1
Natural variantiVAR_064099218K → N in CLCD; has severely impaired DNA binding and transactivation. 1 PublicationCorresponds to variant rs752933596dbSNPEnsembl.1
Natural variantiVAR_064100218K → Q in CLCD. 1 Publication1
Natural variantiVAR_064101220T → I in CLCD; has severely impaired DNA binding and transactivation. 1 Publication1
Natural variantiVAR_064102225R → L in CLCD. 1 Publication1
Natural variantiVAR_012148225R → Q in CLCD; interferes with nuclear localization; abolishes DNA binding. 5 PublicationsCorresponds to variant rs104893991dbSNPEnsembl.1
Natural variantiVAR_012149225R → W in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation. 4 PublicationsCorresponds to variant rs104893992dbSNPEnsembl.1
Natural variantiVAR_064103228R → G in CLCD. 1 Publication1
Natural variantiVAR_064104233K → R in CLCD. 1 Publication1
Natural variantiVAR_064105287D → N in CLCD. 1 Publication1
Natural variantiVAR_064106362A → V in CLCD. 1 Publication1
Natural variantiVAR_064107420T → I in CLCD. 1 Publication1
Natural variantiVAR_064108420T → N in CLCD. 1 Publication1
Natural variantiVAR_012150511G → S in CLCD; unknown pathological significance. 1 PublicationCorresponds to variant rs11498198dbSNPEnsembl.1
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.
See also OMIM:156510

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi451S → A: Reduced DNA-binding and impaired phosphorylation. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi860.
MalaCardsiRUNX2.
MIMi119600. phenotype.
156510. phenotype.
OpenTargetsiENSG00000124813.
Orphaneti1452. Cleidocranial dysplasia.
2504. Metaphyseal dysplasia - maxillary hypoplasia - brachydacty.
PharmGKBiPA34885.

Polymorphism and mutation databases

BioMutaiRUNX2.
DMDMi17368460.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001746591 – 521Runt-related transcription factor 2Add BLAST521

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei267Asymmetric dimethylarginineBy similarity1
Modified residuei451Phosphoserine; by CDK11 Publication1
Isoform 3 (identifier: Q13950-3)
Modified residuei340PhosphoserineCombined sources1

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

Methylation, Phosphoprotein

Proteomic databases

EPDiQ13950.
MaxQBiQ13950.
PaxDbiQ13950.
PeptideAtlasiQ13950.
PRIDEiQ13950.

PTM databases

iPTMnetiQ13950.
PhosphoSitePlusiQ13950.
SwissPalmiQ13950.

Expressioni

Tissue specificityi

Specifically expressed in osteoblasts.

Gene expression databases

BgeeiENSG00000124813.
CleanExiHS_RUNX2.
ExpressionAtlasiQ13950. baseline and differential.
GenevisibleiQ13950. HS.

Organism-specific databases

HPAiCAB008374.
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).By similarity4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
PIN1Q135267EBI-976402,EBI-714158
SMAD6O435413EBI-976402,EBI-976374
TP73O153503EBI-976402,EBI-389606

Protein-protein interaction databases

BioGridi107308. 45 interactors.
DIPiDIP-36707N.
IntActiQ13950. 6 interactors.
MINTiMINT-219985.
STRINGi9606.ENSP00000360493.

Structurei

3D structure databases

ProteinModelPortaliQ13950.
SMRiQ13950.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini101 – 229RuntPROSITE-ProRule annotationAdd BLAST129

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni242 – 258Required for interaction with FOXO1By similarityAdd BLAST17
Regioni336 – 439Interaction with KAT6ABy similarityAdd BLAST104
Regioni374 – 468Interaction with KAT6B1 PublicationAdd BLAST95

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi49 – 71Poly-GlnAdd BLAST23
Compositional biasi73 – 89Poly-AlaAdd BLAST17
Compositional biasi237 – 521Pro/Ser/Thr-richAdd BLAST285

Domaini

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

Sequence similaritiesi

Contains 1 Runt domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3982. Eukaryota.
ENOG4111J4Y. LUCA.
GeneTreeiENSGT00390000016964.
HOGENOMiHOG000045616.
HOVERGENiHBG060268.
InParanoidiQ13950.
KOiK09278.
OMAiXVVALGE.
PhylomeDBiQ13950.
TreeFamiTF321496.

Family and domain databases

Gene3Di2.60.40.720. 1 hit.
4.10.770.10. 1 hit.
InterProiIPR000040. AML1_Runt.
IPR008967. p53-like_TF_DNA-bd.
IPR012346. p53/RUNT-type_TF_DNA-bd.
IPR013524. Runt_dom.
IPR027384. Runx_central_dom.
IPR013711. RunxI_C_dom.
IPR016554. TF_Runt-rel_RUNX.
[Graphical view]
PANTHERiPTHR11950. PTHR11950. 2 hits.
PfamiPF00853. Runt. 1 hit.
PF08504. RunxI. 1 hit.
[Graphical view]
PIRSFiPIRSF009374. TF_Runt-rel_RUNX. 1 hit.
PRINTSiPR00967. ONCOGENEAML1.
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS51062. RUNT. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q13950-1) [UniParc]FASTAAdd 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
GO
Isoform 2 (identifier: Q13950-2) [UniParc]FASTAAdd to basket

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

Show »
Length:507
Mass (Da):55,054
Checksum:i7228C267328DE1DC
GO
Isoform 3 (identifier: Q13950-3) [UniParc]FASTAAdd to basket
Also known as: Cbfa1b

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

Show »
Length:499
Mass (Da):54,249
Checksum:i4BA956230C96EB2E
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti16N → S in AAC77441 (PubMed:9651525).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06408153Q → L in CLCD. 1 Publication1
Natural variantiVAR_01213178 – 83Missing .1 Publication6
Natural variantiVAR_01213084A → AAAAAAAAAAA in CLCD; the patient also shows brachydactyly of hands and feet. 1 Publication1
Natural variantiVAR_012132113L → R in CLCD. 1 Publication1
Natural variantiVAR_064082118S → N in CLCD. 1 Publication1
Natural variantiVAR_012133118S → R in CLCD. 1 Publication1
Natural variantiVAR_012134121F → C in CLCD. 1 Publication1
Natural variantiVAR_012135123C → R in CLCD. 1 Publication1
Natural variantiVAR_064083131R → C in CLCD. 1 Publication1
Natural variantiVAR_064084131R → G in CLCD. 1 Publication1
Natural variantiVAR_064085131R → S in CLCD. 1 Publication1
Natural variantiVAR_012136133Missing in CLCD. 1 Publication1
Natural variantiVAR_064086136L → P in CLCD. 1 Publication1
Natural variantiVAR_064087156V → D in CLCD. 1 Publication1
Natural variantiVAR_064088156V → G in CLCD. 1 Publication1
Natural variantiVAR_064089169R → P in CLCD. 2 PublicationsCorresponds to variant rs104893995dbSNPEnsembl.1
Natural variantiVAR_012137169R → Q in CLCD. 1 PublicationCorresponds to variant rs104893995dbSNPEnsembl.1
Natural variantiVAR_064090175M → K in CLCD. 1 Publication1
Natural variantiVAR_012138175M → R in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant rs104893989dbSNPEnsembl.1
Natural variantiVAR_064091175M → V in CLCD. 1 PublicationCorresponds to variant rs201647225dbSNPEnsembl.1
Natural variantiVAR_064092187F → S in CLCD. 1 Publication1
Natural variantiVAR_012139190R → Q in CLCD; abolishes DNA binding. 1 Publication1
Natural variantiVAR_012140190R → W in CLCD; has severely impaired DNA binding and transactivation. 3 Publications1
Natural variantiVAR_012141191S → N in CLCD; abolishes DNA binding. 2 PublicationsCorresponds to variant rs104893990dbSNPEnsembl.1
Natural variantiVAR_012142193R → C in CLCD. 1 Publication1
Natural variantiVAR_064093193R → Q in CLCD. 1 Publication1
Natural variantiVAR_012143197F → S in CLCD; retains heterodimerization activity together with a trace potential for DNA binding; retains a low but still substantial transactivation activity. 2 Publications1
Natural variantiVAR_012144199L → F in CLCD; abolishes DNA binding. 1 Publication1
Natural variantiVAR_012145200T → A in CLCD; mild; associated also with isolated dental anomalies; normal DNA binding. 1 PublicationCorresponds to variant rs104893993dbSNPEnsembl.1
Natural variantiVAR_064094200T → I in CLCD. 1 Publication1
Natural variantiVAR_064095201I → K in CLCD. 1 Publication1
Natural variantiVAR_012146205T → R in CLCD. 1 Publication1
Natural variantiVAR_064096209Q → H in CLCD. 1 Publication1
Natural variantiVAR_012147209Q → R in CLCD. 1 Publication1
Natural variantiVAR_064097211A → P in CLCD. 1 Publication1
Natural variantiVAR_064098218K → E in CLCD. 1 Publication1
Natural variantiVAR_064099218K → N in CLCD; has severely impaired DNA binding and transactivation. 1 PublicationCorresponds to variant rs752933596dbSNPEnsembl.1
Natural variantiVAR_064100218K → Q in CLCD. 1 Publication1
Natural variantiVAR_064101220T → I in CLCD; has severely impaired DNA binding and transactivation. 1 Publication1
Natural variantiVAR_064102225R → L in CLCD. 1 Publication1
Natural variantiVAR_012148225R → Q in CLCD; interferes with nuclear localization; abolishes DNA binding. 5 PublicationsCorresponds to variant rs104893991dbSNPEnsembl.1
Natural variantiVAR_012149225R → W in CLCD; interferes with nuclear localization; has severely impaired DNA binding and transactivation. 4 PublicationsCorresponds to variant rs104893992dbSNPEnsembl.1
Natural variantiVAR_064103228R → G in CLCD. 1 Publication1
Natural variantiVAR_064104233K → R in CLCD. 1 Publication1
Natural variantiVAR_064105287D → N in CLCD. 1 Publication1
Natural variantiVAR_064106362A → V in CLCD. 1 Publication1
Natural variantiVAR_064107420T → I in CLCD. 1 Publication1
Natural variantiVAR_064108420T → N in CLCD. 1 Publication1
Natural variantiVAR_012150511G → S in CLCD; unknown pathological significance. 1 PublicationCorresponds to variant rs11498198dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0059371 – 19MASNS…QNFFW → MRIPV in isoform 2. CuratedAdd BLAST19
Alternative sequenceiVSP_005938341 – 362Missing in isoform 3. 1 PublicationAdd BLAST22

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF001450
, AF001443, AF001444, AF001445, AF001446, AF001447, AF001448, AF001449 Genomic DNA. Translation: AAB65159.2.
AF001450
, AF001444, AF001445, AF001446, AF001447, AF001448, AF001449 Genomic DNA. Translation: AAB65158.1.
AL161907, AL096865, AL358135 Genomic DNA. Translation: CAI19638.1.
AL161907, AL096865, AL358135 Genomic DNA. Translation: CAI19639.1.
AL358135, AL096865, AL161907 Genomic DNA. Translation: CAI13528.1.
AL358135, AL096865, AL161907 Genomic DNA. Translation: CAI13531.1.
AL096865, AL161907, AL358135 Genomic DNA. Translation: CAI19925.1.
AL096865, AL161907, AL358135 Genomic DNA. Translation: CAI19931.1.
AF053952 mRNA. Translation: AAC78624.1.
AF053949 Genomic DNA. Translation: AAC77441.1.
L40992 mRNA. Translation: AAA89072.1.
CCDSiCCDS43467.2. [Q13950-1]
CCDS43468.2. [Q13950-3]
RefSeqiNP_001015051.3. NM_001015051.3. [Q13950-3]
NP_001019801.3. NM_001024630.3. [Q13950-1]
UniGeneiHs.535845.

Genome annotation databases

EnsembliENST00000359524; ENSP00000352514; ENSG00000124813. [Q13950-2]
ENST00000371432; ENSP00000360486; ENSG00000124813. [Q13950-3]
ENST00000371436; ENSP00000360491; ENSG00000124813. [Q13950-3]
ENST00000371438; ENSP00000360493; ENSG00000124813. [Q13950-1]
ENST00000465038; ENSP00000420707; ENSG00000124813. [Q13950-1]
GeneIDi860.
KEGGihsa:860.
UCSCiuc003oxt.5. human. [Q13950-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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
, AF001443, AF001444, AF001445, AF001446, AF001447, AF001448, AF001449 Genomic DNA. Translation: AAB65159.2.
AF001450
, AF001444, AF001445, AF001446, AF001447, AF001448, AF001449 Genomic DNA. Translation: AAB65158.1.
AL161907, AL096865, AL358135 Genomic DNA. Translation: CAI19638.1.
AL161907, AL096865, AL358135 Genomic DNA. Translation: CAI19639.1.
AL358135, AL096865, AL161907 Genomic DNA. Translation: CAI13528.1.
AL358135, AL096865, AL161907 Genomic DNA. Translation: CAI13531.1.
AL096865, AL161907, AL358135 Genomic DNA. Translation: CAI19925.1.
AL096865, AL161907, AL358135 Genomic DNA. Translation: CAI19931.1.
AF053952 mRNA. Translation: AAC78624.1.
AF053949 Genomic DNA. Translation: AAC77441.1.
L40992 mRNA. Translation: AAA89072.1.
CCDSiCCDS43467.2. [Q13950-1]
CCDS43468.2. [Q13950-3]
RefSeqiNP_001015051.3. NM_001015051.3. [Q13950-3]
NP_001019801.3. NM_001024630.3. [Q13950-1]
UniGeneiHs.535845.

3D structure databases

ProteinModelPortaliQ13950.
SMRiQ13950.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107308. 45 interactors.
DIPiDIP-36707N.
IntActiQ13950. 6 interactors.
MINTiMINT-219985.
STRINGi9606.ENSP00000360493.

PTM databases

iPTMnetiQ13950.
PhosphoSitePlusiQ13950.
SwissPalmiQ13950.

Polymorphism and mutation databases

BioMutaiRUNX2.
DMDMi17368460.

Proteomic databases

EPDiQ13950.
MaxQBiQ13950.
PaxDbiQ13950.
PeptideAtlasiQ13950.
PRIDEiQ13950.

Protocols and materials databases

DNASUi860.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359524; ENSP00000352514; ENSG00000124813. [Q13950-2]
ENST00000371432; ENSP00000360486; ENSG00000124813. [Q13950-3]
ENST00000371436; ENSP00000360491; ENSG00000124813. [Q13950-3]
ENST00000371438; ENSP00000360493; ENSG00000124813. [Q13950-1]
ENST00000465038; ENSP00000420707; ENSG00000124813. [Q13950-1]
GeneIDi860.
KEGGihsa:860.
UCSCiuc003oxt.5. human. [Q13950-1]

Organism-specific databases

CTDi860.
DisGeNETi860.
GeneCardsiRUNX2.
GeneReviewsiRUNX2.
HGNCiHGNC:10472. RUNX2.
HPAiCAB008374.
CAB062561.
CAB068226.
HPA022040.
MalaCardsiRUNX2.
MIMi119600. phenotype.
156510. phenotype.
600211. gene.
neXtProtiNX_Q13950.
OpenTargetsiENSG00000124813.
Orphaneti1452. Cleidocranial dysplasia.
2504. Metaphyseal dysplasia - maxillary hypoplasia - brachydacty.
PharmGKBiPA34885.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3982. Eukaryota.
ENOG4111J4Y. LUCA.
GeneTreeiENSGT00390000016964.
HOGENOMiHOG000045616.
HOVERGENiHBG060268.
InParanoidiQ13950.
KOiK09278.
OMAiXVVALGE.
PhylomeDBiQ13950.
TreeFamiTF321496.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000124813-MONOMER.
ReactomeiR-HSA-2032785. YAP1- and WWTR1 (TAZ)-stimulated gene expression.
SignaLinkiQ13950.
SIGNORiQ13950.

Miscellaneous databases

ChiTaRSiRUNX2. human.
GeneWikiiRUNX2.
GenomeRNAii860.
PROiQ13950.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000124813.
CleanExiHS_RUNX2.
ExpressionAtlasiQ13950. baseline and differential.
GenevisibleiQ13950. HS.

Family and domain databases

Gene3Di2.60.40.720. 1 hit.
4.10.770.10. 1 hit.
InterProiIPR000040. AML1_Runt.
IPR008967. p53-like_TF_DNA-bd.
IPR012346. p53/RUNT-type_TF_DNA-bd.
IPR013524. Runt_dom.
IPR027384. Runx_central_dom.
IPR013711. RunxI_C_dom.
IPR016554. TF_Runt-rel_RUNX.
[Graphical view]
PANTHERiPTHR11950. PTHR11950. 2 hits.
PfamiPF00853. Runt. 1 hit.
PF08504. RunxI. 1 hit.
[Graphical view]
PIRSFiPIRSF009374. TF_Runt-rel_RUNX. 1 hit.
PRINTSiPR00967. ONCOGENEAML1.
SUPFAMiSSF49417. SSF49417. 1 hit.
PROSITEiPS51062. RUNT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRUNX2_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 172 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.