ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Enables DNA-binding transcription factor activity and nuclear vitamin D receptor binding activity. Acts upstream of or within dorsal/ventral pattern formation; positive regulation of DNA-templated transcription; and skeletal system development. 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 EVL; dermis; fin; pharyngeal arch; and skeletal system. 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
- 98 figures from 75 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
- Genome Browsers
| 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
- Genome Browsers