Gene: RUNX2

Basic information

Tag Content
Uniprot ID Q13950; O14614; O14615; O95181;
Entrez ID 860
Genbank protein ID AAA89072.1; AAB65158.1; AAB65159.2; AAC77441.1; AAC78624.1;
Genbank nucleotide ID NM_001015051.3; NM_001024630.3;
Ensembl protein ID ENSP00000360486; ENSP00000360493; ENSP00000352514; ENSP00000495497; ENSP00000360491;
Ensembl nucleotide ID ENSG00000124813
Gene name Runt-related transcription factor 2
Gene symbol RUNX2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CL/P
Developmental stage
Data sources Manually collected
Reference 23909516; 22241686; 18357615;
Functional description 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.
Sequence
MASNSLFSTV TPCQQNFFWD PSTSRRFSPP SSSLQPGKMS DVSPVVAAQQ QQQQQQQQQQ 60
QQQQQQQQQQ QEAAAAAAAA AAAAAAAAAV PRLRPPHDNR TMVEIIADHP AELVRTDSPN 120
FLCSVLPSHW RCNKTLPVAF KVVALGEVPD GTVVTVMAGN DENYSAELRN ASAVMKNQVA 180
RFNDLRFVGR SGRGKSFTLT ITVFTNPPQV ATYHRAIKVT VDGPREPRRH RQKLDDSKPS 240
LFSDRLSDLG RIPHPSMRVG VPPQNPRPSL NSAPSPFNPQ GQSQITDPRQ AQSSPPWSYD 300
QSYPSYLSQM TSPSIHSTTP LSSTRGTGLP AITDVPRRIS DDDTATSDFC LWPSTLSKKS 360
QAGASELGPF SDPRQFPSIS SLTESRFSNP RMHYPATFTY TPPVTSGMSL GMSATTHYHT 420
YLPPPYPGSS QSQSGPFQTS STPYLYYGTS SGSYQFPMVP GGDRSPSRML PPCTTTSNGS 480
TLLNPNLPNQ NDGVDADGSH SSSPTVLNSS GRMDESVWRP Y 521

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologRUNX2102183278A0A452ETJ7Capra hircusPredictionMore>>
1:1 orthologRUNX2860Q13950CL/PHomo sapiensPublicationMore>>
1:1 orthologRunx212393Q08775CPOE14.5, E16.5Mus musculusPublicationMore>>
1:1 orthologRUNX2A0A2J8P0L4Pan troglodytesPredictionMore>>
1:1 orthologRunx2367218F1M9C5Rattus norvegicusPredictionMore>>
1:1 orthologrunx2aF1R272Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
RUNX2rs545289Genotyping; TDT22241686
RUNX2rs2153277Genotyping; TDT22241686
RUNX2rs1200426Genotyping; TDT22241686
RUNX2rs1200425Genotyping; TDT22241686
RUNX2rs9395112Genotyping; TDT22241686
RUNX2rs2782660Genotyping; TDT22241686
RUNX2rs1934328Genotyping; TDT18357615
RUNX2rs910586Genotyping; TDT18357615
RUNX2rs2819861Genotyping; TDT18357615
RUNX2rs1934328Genotyping; TDT23909516

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA bindingIEA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISM
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIBA
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specificIEA
GO:0003682 chromatin bindingIEA
GO:0003700 DNA-binding transcription factor activityNAS
GO:0005515 protein bindingIPI
GO:0005524 ATP bindingIEA
GO:0019904 protein domain specific bindingIEA
GO:0043425 bHLH transcription factor bindingIEA
GO:0070491 repressing transcription factor bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0001503 ossificationTAS
GO:0001503 ossificationIBA
GO:0001649 osteoblast differentiationTAS
GO:0001649 osteoblast differentiationIEP
GO:0001958 endochondral ossificationIEA
GO:0002051 osteoblast fate commitmentIEA
GO:0002062 chondrocyte differentiationIBA
GO:0002063 chondrocyte developmentIEA
GO:0002076 osteoblast developmentIEA
GO:0006357 regulation of transcription by RNA polymerase IIIBA
GO:0006367 transcription initiation from RNA polymerase II promoterTAS
GO:0008284 positive regulation of cell population proliferationIEA
GO:0030097 hemopoiesisIBA
GO:0030182 neuron differentiationIBA
GO:0030217 T cell differentiationIEA
GO:0030509 BMP signaling pathwayISS
GO:0032332 positive regulation of chondrocyte differentiationIEA
GO:0035115 embryonic forelimb morphogenesisIEA
GO:0040036 regulation of fibroblast growth factor receptor signaling pathwayIEA
GO:0042475 odontogenesis of dentin-containing toothIEA
GO:0042487 regulation of odontogenesis of dentin-containing toothIEA
GO:0045595 regulation of cell differentiationIBA
GO:0045669 positive regulation of osteoblast differentiationIMP
GO:0045879 negative regulation of smoothened signaling pathwayIEA
GO:0045892 negative regulation of transcription, DNA-templatedIDA
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0048469 cell maturationIEA
GO:0048701 embryonic cranial skeleton morphogenesisIEA
GO:0048863 stem cell differentiationIEA
GO:0071773 cellular response to BMP stimulusISS
GO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulusISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0000790 nuclear chromatinISS
GO:0000790 nuclear chromatinISA
GO:0005634 nucleusIBA
GO:0005634 nucleusIDA
GO:0005654 nucleoplasmIDA
GO:0005654 nucleoplasmTAS
GO:0005667 transcription factor complexIEA
GO:0005829 cytosolTAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-2032785 YAP1- and WWTR1 (TAZ)-stimulated gene expressionIEA
R-HSA-212436 Generic Transcription PathwayIEA
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-73857 RNA Polymerase II TranscriptionIEA
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-74160 Gene expression (Transcription)IEA
R-HSA-74160 Gene expression (Transcription)TAS
R-HSA-8878166 Transcriptional regulation by RUNX2IEA
R-HSA-8878166 Transcriptional regulation by RUNX2TAS
R-HSA-8878171 Transcriptional regulation by RUNX1TAS
R-HSA-8939246 RUNX1 regulates transcription of genes involved in differentiation of myeloid cellsTAS
R-HSA-8939902 Regulation of RUNX2 expression and activityIEA
R-HSA-8939902 Regulation of RUNX2 expression and activityTAS
R-HSA-8940973 RUNX2 regulates osteoblast differentiationIEA
R-HSA-8940973 RUNX2 regulates osteoblast differentiationTAS
R-HSA-8941284 RUNX2 regulates chondrocyte maturationIEA
R-HSA-8941326 RUNX2 regulates bone developmentIEA
R-HSA-8941326 RUNX2 regulates bone developmentTAS
R-HSA-8941332 RUNX2 regulates genes involved in cell migrationTAS
R-HSA-8941332 RUNX2 regulates genes involved in cell migrationIEA
R-HSA-8941333 RUNX2 regulates genes involved in differentiation of myeloid cellsTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0221 Differentiation
KW-0225 Disease mutation
KW-0238 DNA-binding
KW-1017 Isopeptide bond
KW-0488 Methylation
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
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

PROSITE

PROSITE ID PROSITE Term
PS51062 RUNT

Pfam

Pfam ID Pfam Term
PF00853 Runt
PF08504 RunxI

Protein-protein interaction

Protein-miRNA interaction