Gene
runx2b
- ID
- ZDB-GENE-040629-4
- Name
- RUNX family transcription factor 2b
- Symbol
- runx2b Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Exhibits DNA-binding transcription factor activity and vitamin D receptor binding activity. Involved in chondrocyte differentiation; dorsal/ventral pattern formation; and positive regulation of transcription, DNA-templated. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in cleidocranial dysplasia and metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome. Is expressed in several structures, including EVL; cranium; fin; osteoblast; and pharyngeal arch. Orthologous to human RUNX2 (RUNX family transcription factor 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 91 figures from 68 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 | 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:A0A8M1PMM2
|
464 | |||||||
|
UniProtKB:A0A8M9PSK4
|
323 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
runx2b-201
(1)
|
Ensembl | 1,707 nt | ||
| mRNA |
runx2b-202
(1)
|
Ensembl | 1,533 nt | ||
| mRNA |
runx2b-203
(1)
|
Ensembl | 1,128 nt | ||
| mRNA |
runx2b-204
(1)
|
Ensembl | 675 nt | ||
| mRNA |
runx2b-205
(1)
|
Ensembl | 2,491 nt |
Interactions and Pathways
No data available
Plasmids
No data available