InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: RUNX2

Summary

InnateDB Gene

IDBG-89685.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RUNX2

Gene Name

runt-related transcription factor 2

Synonyms

AML3; CBF-alpha-1; CBFA1; CCD; CCD1; CLCD; OSF-2; OSF2; PEA2aA; PEBP2aA

Species

Homo sapiens

Ensembl Gene

ENSG00000124813

Encoded Proteins

IDBP-89687

runt-related transcription factor 2

IDBP-89691

runt-related transcription factor 2

IDBP-89693

runt-related transcription factor 2

IDBP-89695

runt-related transcription factor 2

IDBP-718740

IDBP-474302

runt-related transcription factor 2

IDBP-718987

IDBP-719216

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:45328157-45664349

Strand

Forward strand

Band

p21.1

Transcripts

ENST00000359524	ENSP00000352514
ENST00000371438	ENSP00000360493
ENST00000371436	ENSP00000360491
ENST00000371432	ENSP00000360486
ENST00000483377	ENSP00000461357
ENST00000465038	ENSP00000420707
ENST00000483243
ENST00000473041
ENST00000478660	ENSP00000460188
ENST00000576263	ENSP00000458178

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 74 experimentally validated interaction(s) in this database.
They are also associated with 17 interaction(s) predicted by orthology.

Experimentally validated
Total	74 [view]
Protein-Protein	66 [view]
Protein-DNA	5 [view]
Protein-RNA	0
DNA-DNA	3 [view]
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	17 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0019904	protein domain specific binding
GO:0043425	bHLH transcription factor binding
GO:0044212	transcription regulatory region DNA binding
GO:0070491	repressing transcription factor binding

Biological Process

GO:0001501	skeletal system development
GO:0001503	ossification
GO:0001649	osteoblast differentiation
GO:0001958	endochondral ossification
GO:0002051	osteoblast fate commitment
GO:0002062	chondrocyte differentiation
GO:0002063	chondrocyte development
GO:0002076	osteoblast development
GO:0006355	regulation of transcription, DNA-templated
GO:0006367	transcription initiation from RNA polymerase II promoter
GO:0008284	positive regulation of cell proliferation
GO:0010467	gene expression
GO:0030217	T cell differentiation
GO:0030278	regulation of ossification
GO:0030509	BMP signaling pathway
GO:0032332	positive regulation of chondrocyte differentiation
GO:0035115	embryonic forelimb morphogenesis
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway
GO:0042475	odontogenesis of dentin-containing tooth
GO:0042487	regulation of odontogenesis of dentin-containing tooth
GO:0045667	regulation of osteoblast differentiation
GO:0045669	positive regulation of osteoblast differentiation
GO:0045879	negative regulation of smoothened signaling pathway
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048469	cell maturation
GO:0048701	embryonic cranial skeleton morphogenesis
GO:0048705	skeletal system morphogenesis
GO:0048863	stem cell differentiation
GO:0071773	cellular response to BMP stimulus
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus