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. Is expressed in several structures, including EVL; cranium; fin; osteoblast; and pharyngeal arch. Human ortholog(s) of this gene implicated in cleidocranial dysplasia and metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome. Orthologous to human RUNX2 (RUNX family transcription factor 2).
Genome Resources
Note
None
Expression
All Expression Data
65 figures from 46 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With runx2b Human Ortholog
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-brachydacty syndrome Alliance Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly 156510
Associated With runx2b Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
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 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:Q4VW83 450
UniProtKB:Q3L8U3 450
UniProtKB:Q58W13 328
UniProtKB:F1QB94 478
UniProtKB:Q4VW82 181
UniProtKB:Q6TYZ4 474
UniProtKB:F1QVK7 328
UniProtKB:Q4VW84 464
UniProtKB:Q6TYZ3 455
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations