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This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
RUNX3 (RUNX Family Transcription Factor 3) is a Protein Coding gene. Diseases associated with RUNX3 include Testicular Yolk Sac Tumor and Cleidocranial Dysplasia. Among its related pathways are Notch Signaling Pathway (WikiPathways) and TGF-beta Receptor Signaling (WikiPathways). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is RUNX2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | ISS | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISS | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | TAS | 7607690 |
GO:0005515 | protein binding | IPI | 9751710 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISS | -- |
GO:0005634 | nucleus | IBA,IDA | 20100835 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 20100835 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Wnt / Hedgehog / Notch | ||
2 | Measles | ||
3 | Th17 cell differentiation | ||
4 | Dendritic Cells Developmental Lineage Pathway | ||
5 | Notch Signaling Pathway (WikiPathways) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
GO:0001503 | ossification | IBA | 21873635 |
GO:0002062 | chondrocyte differentiation | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | NAS | 7622058 |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | RUNX3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | LOC487366 30 |
|
||
RUNX3 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | RUNX3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Runx3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Runx3 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | RUNX3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | RUNX3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RUNX3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | runx3 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | runx3 30 31 |
|
OneToOne | |
-- 30 |
|
||||
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 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
774578 | Benign: not provided | 24,964,515(-) | G/T | SYNONYMOUS_VARIANT | |
782679 | Benign: not provided | 24,927,713(-) | G/A | SYNONYMOUS_VARIANT | |
792269 | Likely Benign: not provided | 24,907,249(-) | C/T | INTRON_VARIANT | |
795881 | Benign: not provided | 24,902,248(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1077252 | CNV | deletion | 25765185 |
nsv1136070 | CNV | deletion | 24896259 |
nsv508581 | CNV | deletion | 20534489 |
Disorder | Aliases | PubMed IDs |
---|---|---|
testicular yolk sac tumor |
|
|
cleidocranial dysplasia |
|
|
leukemia |
|
|
myeloid leukemia |
|
|
gastric cancer |
|