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

78 figures from 57 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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-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:F1QB94 InterPro	478
UniProtKB:F1QVK7 InterPro	328
UniProtKB:Q4VW83 InterPro	450
UniProtKB:Q4VW84 InterPro	464
UniProtKB:Q6TYZ3 InterPro	455
UniProtKB:Q4VW82 InterPro	181
UniProtKB:Q6TYZ4 InterPro	474
UniProtKB:Q3L8U3 InterPro	450
UniProtKB:Q58W13 InterPro	328