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Gene

runx2a

ID
ZDB-GENE-040629-3
Name
RUNX family transcription factor 2a
Symbol
runx2a Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in several processes, including chondrocyte differentiation; ossification; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within regulation of transcription, DNA-templated. Predicted to be located in nucleus. Is expressed in several structures, including cranium; fin; osteoblast; osteoprogenitor cell; and scale. 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
39 figures from 30 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With runx2a 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 runx2a 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:Q596E5 37
UniProtKB:Q6U1J2 467
UniProtKB:B3DKD9 467
UniProtKB:Q58W14 335
UniProtKB:F1R272 453
UniProtKB:Q596E7 236
UniProtKB:Q596E6 167
UniProtKB:Q6U1J3 453
UniProtKB:A0A2R8QCE9 236
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