RUNX2

RUNX2
Identifiers
Aliases	RUNX2, AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA, runt related transcription factor 2, Runx2 mRNA, RUNX family transcription factor 2
External IDs	OMIM: 600211; MGI: 99829; HomoloGene: 68389; GeneCards: RUNX2; OMA:RUNX2 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6p21.1 Start 45,328,157 bp[1] End 45,664,349 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 B3|17 21.33 cM Start 44,806,874 bp[2] End 45,125,684 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia mucosa of paranasal sinus trabecular bone parotid gland palpebral conjunctiva testicle mucosa of nose cartilage tissue amniotic fluid blood Top expressed in facial skeleton upper jaw long bone cartilage of bone bones of free part of lower limb Dermatocranium membranous bone body of femur calvaria maxilla More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA binding protein domain specific binding DNA-binding transcription factor activity DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding RNA polymerase II cis-regulatory region sequence-specific DNA binding bHLH transcription factor binding protein binding ATP binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm transcription regulator complex nucleus nucleoplasm cytosol Biological process skeletal system development regulation of transcription, DNA-templated negative regulation of smoothened signaling pathway chondrocyte differentiation ossification regulation of transcription by RNA polymerase II regulation of fibroblast growth factor receptor signaling pathway skeletal system morphogenesis chondrocyte development cellular response to BMP stimulus endochondral ossification regulation of odontogenesis of dentin-containing tooth cell maturation BMP signaling pathway stem cell differentiation transcription, DNA-templated odontogenesis of dentin-containing tooth T cell differentiation positive regulation of gene expression regulation of osteoblast differentiation positive regulation of chondrocyte differentiation osteoblast differentiation neuron differentiation positive regulation of cell population proliferation regulation of cell differentiation osteoblast development embryonic cranial skeleton morphogenesis regulation of ossification embryonic forelimb morphogenesis positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus osteoblast fate commitment negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated transcription initiation from RNA polymerase II promoter positive regulation of osteoblast differentiation positive regulation of transcription by RNA polymerase II cell differentiation hemopoiesis regulation of gene expression Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 860 12393 Ensembl ENSG00000124813 ENSMUSG00000039153 UniProt Q13950 Q08775 RefSeq (mRNA) NM_001015051 NM_001024630 NM_001278478 NM_004348 NM_001369405 NM_001145920 NM_001146038 NM_001271627 NM_001271630 NM_001271631 NM_001271633 NM_009820 RefSeq (protein) NP_001015051 NP_001019801 NP_001265407 NP_001356334 NP_001139392 NP_001139510 NP_001258556 NP_001258559 NP_001258560 NP_033950 Location (UCSC) Chr 6: 45.33 – 45.66 Mb Chr 17: 44.81 – 45.13 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Runt-related transcription factor 2 (RUNX2) also known as core-binding factor subunit alpha-1 (CBF-alpha-1) is a protein that in humans is encoded by the RUNX2 gene. RUNX2 is a key transcription factor associated with osteoblast differentiation.

It has also been suggested that Runx2 plays a cell proliferation regulatory role in cell cycle entry and exit in osteoblasts, as well as endothelial cells. Runx2 suppresses pre-osteoblast proliferation by affecting cell cycle progression in the G1 phase.^[6] In osteoblasts, the levels of Runx2 is highest in G₁ phase and is lowest in S, G₂, and M.^[5] The comprehensive cell cycle regulatory mechanisms that Runx2 may play are still unknown, although it is generally accepted that the varying activity and levels of Runx2 throughout the cell cycle contribute to cell cycle entry and exit, as well as cell cycle progression. These functions are especially important when discussing bone cancer, particularly osteosarcoma development, that can be attributed to aberrant cell proliferation control.