ZFIN is now using GRCz12tu for Genomic Data
Gene
runx2a
- ID
- ZDB-GENE-040629-3
- Name
- RUNX family transcription factor 2a
- Symbol
- runx2a Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in several processes, including chondrocyte differentiation; ossification; and regulation of transcription by RNA polymerase II. Predicted to be located in cytosol. Predicted to be part of transcription regulator complex. Predicted to be active in nucleus. Is expressed in several structures, including cranium; fin; midbrain hindbrain boundary; osteoblast; and osteoprogenitor cell. Human ortholog(s) of this gene implicated in cleidocranial dysplasia; lung non-small cell carcinoma; metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome; and osteonecrosis. Orthologous to human RUNX2 (RUNX family transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 68 figures from 54 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu739 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cleidocranial dysplasia | Alliance | Cleidocranial dysplasia | 119600 |
| cleidocranial dysplasia | Alliance | Cleidocranial dysplasia, forme fruste, dental anomalies only | 119600 |
| cleidocranial dysplasia | Alliance | Cleidocranial dysplasia, forme fruste, with brachydactyly | 119600 |
| metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome | Alliance | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly | 156510 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR013524 | Runt domain |
| Domain | IPR013711 | Runx, C-terminal domain |
| Family | IPR000040 | Acute myeloid leukemia 1 protein (AML1)/Runt |
| Family | IPR016554 | Runt-related transcription factor RUNX |
| Homologous_superfamily | IPR008967 | p53-like transcription factor, DNA-binding domain superfamily |
| Homologous_superfamily | IPR012346 | p53/RUNT-type transcription factor, DNA-binding domain superfamily |
| Homologous_superfamily | IPR027384 | Runx, central domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Acute myeloid leukemia 1 protein (AML1)/Runt | p53-like transcription factor, DNA-binding domain superfamily | p53/RUNT-type transcription factor, DNA-binding domain superfamily | Runt domain | Runt-related transcription factor RUNX | Runx, central domain superfamily | Runx, C-terminal domain |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6U1J2 | InterPro | 467 | |||||||
| UniProtKB:A0AB32T797 | InterPro | 467 | |||||||
| UniProtKB:A0AB32T7G4 | InterPro | 408 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
runx2a-201
(1)
|
Ensembl | 1,650 nt | ||
| mRNA |
runx2a-202
(1)
|
Ensembl | 1,498 nt | ||
| mRNA |
runx2a-203
(1)
|
Ensembl | 786 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers