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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RUNX2
RUNX family transcription factor 2
Chromosome 6 Β· 6p21.1
NCBI Gene: 860Ensembl: ENSG00000124813.23HGNC: HGNC:10472UniProt: A0A0D9SEN7
641PubMed Papers
22Diseases
0Drugs
170Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of transcription by RNA polymerase IIpositive regulation of DNA-templated transcriptionnucleusprotein bindingcleidocranial dysplasia 1Metaphyseal dysplasia - maxillary hypoplasia - brachydactymetaphyseal dysplasia-maxillary hypoplasia-brachydacty syndromeneurodegenerative disease
✦AI Summary

RUNX2 (Runt-related transcription factor 2) is a critical transcription factor essential for osteoblast differentiation and skeletal development 1. RUNX2 functions as a master regulator that induces the commitment of multipotent mesenchymal cells to osteoblast lineage cells and enhances osteoprogenitor proliferation 1. The protein is required for chondrocyte maturation and both intramembranous and endochondral ossification 1. RUNX2 promotes bone formation by inducing expression of major bone matrix protein genes including COL1A1, SPP1, IBSP, and BGLAP/osteocalcin 1. The transcription factor works in conjunction with cofactor CBFB, which enhances DNA-binding capacity and protein stability 1. Beyond its role in bone development, RUNX2 has emerged as an important factor in cancer progression, where it recruits repressive complexes to regulate genes involved in cell growth and metastasis 2. RUNX2 also contributes to immune function by promoting differentiation of cytotoxic tissue-resident memory T cells 3. Clinical relevance includes mutations causing cleidocranial dysplasia and metaphyseal dysplasia, while altered RUNX2 expression is associated with ankylosing spondylitis and osteoporosis 45. Therapeutic targeting of RUNX2 pathways shows promise for treating bone disorders and certain cancers.

Sources cited
1
RUNX2 is essential for osteoblast differentiation, chondrocyte maturation, and bone matrix protein gene expression
PMID: 39337587
2
RUNX2 recruits repressive complexes in cancer and promotes breast cancer progression and metastasis
PMID: 35534547
3
RUNX2 promotes differentiation of cytotoxic tissue-resident memory T cells
PMID: 37269830
4
RUNX2 promoter hypomethylation and increased expression are associated with ankylosing spondylitis
PMID: 37902280
5
NIBAN2-regulated RUNX2 alternative splicing affects osteoblast differentiation and osteoporosis
PMID: 40051391
Disease Associationsβ“˜22
cleidocranial dysplasia 1Open Targets
0.85Strong
Metaphyseal dysplasia - maxillary hypoplasia - brachydactyOpen Targets
0.73Strong
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndromeOpen Targets
0.73Strong
neurodegenerative diseaseOpen Targets
0.48Moderate
genetic disorderOpen Targets
0.47Moderate
craniosynostosisOpen Targets
0.40Moderate
osteoarthritis, hipOpen Targets
0.37Weak
Inguinal herniaOpen Targets
0.35Weak
osteoarthritisOpen Targets
0.35Weak
skin agingOpen Targets
0.33Weak
Abnormality of the skeletal systemOpen Targets
0.30Weak
glaucomaOpen Targets
0.27Weak
osteoarthritis, kneeOpen Targets
0.27Weak
nephrotic syndromeOpen Targets
0.26Weak
hearing loss, mixed conductive-sensorineuralOpen Targets
0.25Weak
otosclerosisOpen Targets
0.25Weak
placenta praeviaOpen Targets
0.25Weak
progressive supranuclear palsyOpen Targets
0.24Weak
total hip arthroplastyOpen Targets
0.23Weak
acute myeloid leukemiaOpen Targets
0.19Weak
Cleidocranial dysplasia 1UniProt
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactylyUniProt
Pathogenic Variants170
NM_001024630.4(RUNX2):c.604del (p.Thr202fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 202
NM_001024630.4(RUNX2):c.659C>T (p.Thr220Ile)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 220
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)Pathogenic
Cleidocranial dysostosis|not provided|Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome;Cleidocranial dysostosis|RUNX2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 225
NM_001024630.4(RUNX2):c.90dup (p.Ser31fs)Pathogenic
Cleidocranial dysostosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 31
NM_001024630.4(RUNX2):c.569G>A (p.Arg190Gln)Pathogenic
Cleidocranial dysostosis|not provided|Cleidocranial dysostosis;Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 190
NM_001024630.4(RUNX2):c.568C>T (p.Arg190Trp)Pathogenic
not provided|Cleidocranial dysostosis;Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome|Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 190
NM_001024630.4(RUNX2):c.577C>T (p.Arg193Ter)Pathogenic
Cleidocranial dysostosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 193
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp)Pathogenic
Cleidocranial dysostosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 225
NM_001024630.4(RUNX2):c.505C>T (p.Arg169Trp)Pathogenic
Cleidocranial dysostosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 169
NM_001024630.4(RUNX2):c.1385dup (p.Asp463fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 463
NM_001024630.4(RUNX2):c.1085C>T (p.Ala362Val)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 362
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter)Pathogenic
Cleidocranial dysostosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 391
NM_001024630.4(RUNX2):c.578G>A (p.Arg193Gln)Pathogenic
not provided|Cleidocranial dysostosis;Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
β˜…β˜…β˜†β˜†2024β†’ Residue 193
NM_001024630.4(RUNX2):c.860-1G>ALikely pathogenic
not provided|Cleidocranial dysostosis
β˜…β˜…β˜†β˜†2024
NM_001024630.4(RUNX2):c.860-1G>TPathogenic
not provided
β˜…β˜…β˜†β˜†2024
NM_001024630.4(RUNX2):c.1379dup (p.Asp463fs)Pathogenic
not provided|Cleidocranial dysostosis|Inborn genetic diseases
β˜…β˜…β˜†β˜†2022β†’ Residue 463
NM_001024630.4(RUNX2):c.868C>T (p.Gln290Ter)Pathogenic
not provided|Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 290
NM_001024630.4(RUNX2):c.211C>T (p.Gln71Ter)Likely pathogenic
Cleidocranial dysostosis|not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 71
NM_001024630.4(RUNX2):c.90del (p.Ser31fs)Likely pathogenic
Cleidocranial dysostosis|Cleidocranial dysostosis;Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
β˜…β˜…β˜†β˜†2019β†’ Residue 31
NM_001024630.4(RUNX2):c.476G>A (p.Gly159Asp)Pathogenic
Cleidocranial dysostosis
β˜…β˜…β˜†β˜†2015β†’ Residue 159
View on ClinVar β†—
Related Genes
STAT1Protein interaction100%SMURF1Protein interaction100%PPARGProtein interaction100%CEBPBProtein interaction100%DLX3Protein interaction100%BMP4Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
20%
Ovary
17%
Brain
6%
Heart
5%
Liver
4%
Gene Interaction Network
Click a node to explore
RUNX2STAT1SMURF1PPARGCEBPBDLX3BMP4
PROTEIN STRUCTURE
Preparing viewer…
PDB6VGD Β· 4.20 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.35Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.13–0.35]
RankingsWhere RUNX2 stands among ~20K protein-coding genes
  • #352of 20,598
    Most Researched641 Β· top 5%
  • #439of 5,498
    Most Pathogenic Variants170 Β· top 10%
  • #1,550of 17,882
    Most Constrained (LOEUF)0.35 Β· top 10%
Genes detectedRUNX2
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Human skin-resident CD8
PMID: 37269830
Immunity Β· 2023
1.00
2
"A Friend Among Strangers" or the Ambiguous Roles of Runx2.
PMID: 39595568
Biomolecules Β· 2024
0.92
3
RUNX2 and Cancer.
PMID: 37108164
Int J Mol Sci Β· 2023
0.90
4
Runx2 and Polycystins in Bone Mechanotransduction: Challenges for Therapeutic Opportunities.
PMID: 38791330
Int J Mol Sci Β· 2024
0.88
5
Molecular Genetics of Cleidocranial Dysplasia.
PMID: 31984822
Fetal Pediatr Pathol Β· 2021
0.82