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RUNX2

RUNX family transcription factor 2
4 disorders 2 no genetic record 2 untyped 6p21.1 gene with protein product
HGNC:10472MonarchNCBI Gene 860ENSG00000124813UniProt Q13950OMIM 600211

Previous symbols: CCD, CBFA1, CCD1. Aliases: AML3, PEBP2A1, PEBP2aA1.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Cleidocranial Dysplasia untyped
Causative
mechanism: RUNX2 Haploinsufficiency and Osteoblast Differentiation Failure
Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly untyped
Causal monoallelic intragenic duplication
germline gain of function
mechanism: Intragenic RUNX2 Tandem Duplication
Aortic Valve Stenosis no genetic record
mechanism: Reduced NOTCH-Dependent RUNX2 Repression
Neurodevelopmental Disorder with Central Hypotonia and Dysmorphic Facies no genetic record
mechanism: MEF2C and RUNX2 Target Transcriptional Dysregulation

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.