RUNX2

Gene Facts External Data Attribution

HGNC Symbol

RUNX2 (HGNC:10472) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar

HGNC Name

RUNX family transcription factor 2

Gene type

protein-coding gene

Locus type

gene with protein product

Previous symbols

CCD, CBFA1, CCD1

Alias symbols

AML3, PEBP2A1, PEBP2aA1

%HI

0.21(Read more about the DECIPHER Haploinsufficiency Index)

pLI

1(Read more about gnomAD pLI score)

LOEUF

0.35(Read more about gnomAD LOEUF score)

Cytoband

6p21.1

Genomic Coordinates

GRCh37/hg19:	chr6:45296067-45518819	NCBI Ensembl UCSC
GRCh38/hg38:	chr6:45328330-45551082	NCBI Ensembl UCSC

MANE Select Transcript

NM_001024630.4 ENST00000647337.2 (Read more about MANE Select)

Function

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 prom... (Source: Uniprot)