Gene table of RUNX2 : runt related transcription factor 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RUNX2	OMIM link	Number of associated genes	genes
156510	METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY	ClinVar, OMIM	link to OMIM	1	RUNX2
119600	CLEIDOCRANIAL DYSPLASIA	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	RUNX2

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Annotation of the gene RUNX2

Associated genes in ENSEMBL

ENSG00000124813

Associated proteins - SwissProt Accession ID

Q13950

Associated PDB IDs

Cytogenetic Band

6p21.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Transcriptional misregulation in cancer	hsa05202	5.21

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72
YAP1- and WWTR1 (TAZ)-stimulated gene expression	R-HSA-2032785	8.12

Associated GO terms for Molecular function

GO term	GO ID	GO IC
purine ribonucleoside triphosphate binding	GO:0035639	2.22
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
bHLH transcription factor binding	GO:0043425	6.41
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
repressing transcription factor binding	GO:0070491	5.71
sequence-specific DNA binding	GO:0043565	2.79
sequence-specific double-stranded DNA binding	GO:1990837	3.2
nucleotide binding	GO:0000166	1.96
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
purine nucleotide binding	GO:0017076	2.19
double-stranded DNA binding	GO:0003690	3.09
nucleoside binding	GO:0001882	2.21
histone deacetylase binding	GO:0042826	5.08
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
ATP binding	GO:0005524	2.43
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
transcription factor binding	GO:0008134	3.46
regulatory region nucleic acid binding	GO:0001067	3.03
small molecule binding	GO:0036094	1.89
enzyme binding	GO:0019899	2.27
core promoter binding	GO:0001047	4.71
core promoter sequence-specific DNA binding	GO:0001046	5.12
transcription regulatory region DNA binding	GO:0044212	3.03
chromatin binding	GO:0003682	3.64
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
adenyl nucleotide binding	GO:0030554	2.4
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
protein domain specific binding	GO:0019904	3.32
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
carbohydrate derivative binding	GO:0097367	2.03
adenyl ribonucleotide binding	GO:0032559	2.41
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
protein binding	GO:0005515	0.46
regulatory region DNA binding	GO:0000975	3.03
purine ribonucleotide binding	GO:0032555	2.2
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
RNA polymerase II core promoter sequence-specific DNA binding	GO:0000979	5.77
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
nucleic acid binding transcription factor activity	GO:0001071	2.65