RUNX2

Chr 6p21.1

RUNX family transcription factor 2

Aliases:: AML3, PEBP2A1, PEBP2aA1
MANE:: ENST00000647337.2

OMIM: 600211 ↗NCBI: 860 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RUNX2 · Q13950

v62025-08-01

Predicted Aligned Error matrix for RUNX2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

58.6/ 100

Low

521 residues

Confidence breakdown

Very high(≥ 90)22%
Confident(70–90)8%
Low(50–70)14%
Very low(< 50)56%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare syndromic craniosynostosis or isolated multisuture synostosis
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Osteogenesis imperfecta

Disease associations (Open Targets)

cleidocranial dysplasia 1
0.85
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
0.72
Metaphyseal dysplasia - maxillary hypoplasia - brachydacty
0.72
neurodegenerative disease
0.48
hereditary disease
0.47
craniosynostosis
0.41
Inguinal hernia
0.38
skin aging
0.35
osteoarthritis
0.35
osteoarthritis, hip
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Runt-related transcription factor 2

Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28703881, PubMed:28738062, PubMed:16299379). 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