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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]
RUNX2 (RUNX Family Transcription Factor 2) is a Protein Coding gene. Diseases associated with RUNX2 include Cleidocranial Dysplasia and Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly. Among its related pathways are Transcriptional misregulation in cancer and Interleukin-11 Signaling Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is RUNX1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003682 | chromatin binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISS | -- |
GO:0005634 | nucleus | IBA,IDA | 28505335 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IEA | -- |
GO:0001503 | ossification | IBA,TAS | 12217689 |
GO:0001649 | osteoblast differentiation | TAS | 12217689 |
GO:0001958 | endochondral ossification | IEA | -- |
GO:0002051 | osteoblast fate commitment | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | RUNX2 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | RUNX2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RUNX2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RUNX2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RUNX2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Runx2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Runx2 30 |
|
||
Chicken (Gallus gallus) |
Aves | RUNX2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RUNX2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | runx2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | runx2a 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG1379 32 |
|
|
|
CG15455 32 |
|
|
|||
run 31 32 |
|
ManyToMany | |||
RunxA 31 |
|
ManyToMany | |||
RunxB 31 |
|
ManyToMany | |||
lz 31 32 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | rnt-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
694720 | Pathogenic: Cleidocranial dysostosis | 45,491,993(+) | C/T | SYNONYMOUS_VARIANT | |
787303 | Benign: not provided | 45,431,988(+) | C/T | SYNONYMOUS_VARIANT | |
802220 | Pathogenic: Cleidocranial dysostosis | 45,422,905(+) | C/A | NONSENSE | |
811087 | Benign: not specified | 45,422,730(+) | C/CCAG | INFRAME_INDEL | |
828169 | Uncertain Significance: Cleidocranial dysostosis | 45,422,902(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1764e212 | CNV | loss | 25503493 |
esv2476554 | CNV | deletion | 19546169 |
esv3306539 | CNV | mobile element insertion | 20981092 |
esv3401379 | CNV | insertion | 20981092 |
esv3571035 | CNV | loss | 25503493 |
esv3571036 | CNV | loss | 25503493 |
nsv527552 | CNV | loss | 19592680 |
nsv830652 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cleidocranial dysplasia |
|
|
metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly |
|
|
metaphyseal dysplasia |
|
|
bone disease |
|
|
teeth, supernumerary |
|