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
Comparative Information
Expression
All Expression Data
83 figures from 61 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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-brachydactyly 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
No data available
Domain Details Per Protein
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations