RUNX2 Chromosome 6
RUNX family transcription factor 2
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What This Gene Does
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. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other 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 2016]
Gene Info
Gene Group
Runt-related transcription factors
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000124813
Associated Conditions (9)
Cleidocranial dysostosis
RUNX2-related disorder
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Inborn genetic diseases
Nephrotic syndrome
Cleidocranial dysplasia 1
forme fruste
dental anomalies only
with brachydactyly
Key Variants
RS104893995
Conflicting classifications of pathogenicity
Cleidocranial dysostosis, Cleidocranial dysostosis, RUNX2-related disorder
Health Risk
RS115347084
Conflicting classifications of pathogenicity
Health Risk
RS1428979499
Conflicting classifications of pathogenicity
Health Risk
RS1466405295
Conflicting classifications of pathogenicity
Health Risk
RS147359883
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554384228
Conflicting classifications of pathogenicity
Cleidocranial dysostosis, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, Cleidocranial dysostosis
Health Risk
RS1798261271
Conflicting classifications of pathogenicity
Cleidocranial dysostosis, Cleidocranial dysostosis
Health Risk
RS201584115
Conflicting classifications of pathogenicity
Cleidocranial dysostosis, Cleidocranial dysostosis
Health Risk
RS201647225
Conflicting classifications of pathogenicity
Cleidocranial dysostosis, RUNX2-related disorder, Cleidocranial dysostosis
Health Risk
RS368475300
Conflicting classifications of pathogenicity
Health Risk
RS554964716
Conflicting classifications of pathogenicity
Cleidocranial dysostosis, Cleidocranial dysostosis
Health Risk
RS558458433
Conflicting classifications of pathogenicity
Cleidocranial dysostosis, Cleidocranial dysostosis
Health Risk
All Variants (138)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1271018624 | Health Risk | Pathogenic | — |
| RS1311296877 | Health Risk | Pathogenic | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome |
| RS1554125882 | Health Risk | Pathogenic | — |
| RS1561822364 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1562961725 | Health Risk | Pathogenic | — |
| RS1582094334 | Health Risk | Pathogenic | — |
| RS1582095109 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1582105417 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1582169095 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1786864520 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1798255831 | Health Risk | Pathogenic | — |
| RS1798259380 | Health Risk | Pathogenic | — |
| RS1798551566 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1798733144 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1798735440 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1802363925 | Health Risk | Pathogenic | — |
| RS1802417423 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS1802418386 | Health Risk | Pathogenic | — |
| RS1802421481 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS2150362152 | Health Risk | Pathogenic | — |
| RS2150362256 | Health Risk | Pathogenic | — |
| RS2150362292 | Health Risk | Pathogenic | — |
| RS2150362526 | Health Risk | Pathogenic | — |
| RS2150362649 | Health Risk | Pathogenic | RUNX2-related disorder, RUNX2-related disorder |
| RS2150362655 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS2150362661 | Health Risk | Pathogenic | — |
| RS2150362678 | Health Risk | Pathogenic | — |
| RS2150362681 | Health Risk | Pathogenic | — |
| RS2150362688 | Health Risk | Pathogenic | — |
| RS2150368206 | Health Risk | Pathogenic | — |
| RS2150368229 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS2150368246 | Health Risk | Pathogenic | Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome, Cleidocranial dysostosis, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome |
| RS2150371825 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS2150371856 | Health Risk | Pathogenic | — |
| RS2150371897 | Health Risk | Pathogenic | — |
| RS2150407600 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS2150421206 | Health Risk | Pathogenic | — |
| RS2150421218 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS2150452051 | Health Risk | Pathogenic | — |
| RS2150452063 | Health Risk | Pathogenic | Cleidocranial dysostosis, Cleidocranial dysostosis |
| RS2150453876 | Health Risk | Pathogenic | — |
| RS2150454165 | Health Risk | Pathogenic | — |
| RS2481021978 | Health Risk | Pathogenic | — |
| RS2481024400 | Health Risk | Pathogenic | — |
| RS2481024491 | Health Risk | Pathogenic | RUNX2-related disorder, RUNX2-related disorder |
| RS2481024807 | Health Risk | Pathogenic | — |
| RS2481025165 | Health Risk | Pathogenic | — |
| RS2481025653 | Health Risk | Pathogenic | — |
| RS2548581688 | Health Risk | Pathogenic | — |
| RS2548581742 | Health Risk | Pathogenic | — |