Basic Information

Symbol
RUNX2
RNA class
mRNA
Alias
RUNX Family Transcription Factor 2 AML3 Runt-Related Transcription Factor 2 CBFA1 Polyomavirus Enhancer-Binding Protein 2 Alpha A Subunit SL3/AKV Core-Binding Factor Alpha A Subunit Osteoblast-Specific Transcription Factor 2 SL3-3 Enhancer Factor 1 Alpha A Subunit Runt Related Transcription Factor 2 Acute Myeloid Leukemia 3 Protein Oncogene AML-3 PEBP2-Alpha A PEA2-Alpha A CBF-Alpha-1 PEBP2aA1 PEBP2A1 OSF-2 CCD1 OSF2 CCD Core-Binding Factor, Runt Domain, Alpha Subunit 1 Core-Binding Factor Subunit Alpha-1 PEBP2aA PEA2aA PEBP2A CLCD
Location (GRCh38)
6:45328157-45664349
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_001024630.4
Sequence length
5540.0 nt
GC content
0.4368

Transcripts

ID Sequence Length GC content
NM_001015051.4 NCBI
AUUCGCCUCACAAACAACCACAGAACCACAAGUGCGGUGCAAACUUUCU… 5474 nt 0.4355
NM_001024630.4 NCBI
AUUCGCCUCACAAACAACCACAGAACCACAAGUGCGGUGCAAACUUUCU… 5540 nt 0.4368
NM_001278478.2 NCBI
AAACACACCCCCGCGCCCGUUCGCAGCUGCCACCCCGGGUGUUCCAAAG… 5537 nt 0.4459
NM_001369405.1 NCBI
AAACACACCCCCGCGCCCGUUCGCAGCUGCCACCCCGGGUGUUCCAAAG… 5603 nt 0.4471
Summary

This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]

Forensic Context

A study in mice demonstrated that plasma exosomes isolated on day 1 post-traumatic brain injury (TBI) and fracture (TF1) significantly promoted osteoblast proliferation and enhanced mRNA and protein expression of the osteogenic marker RUNX2 in MC3T3-E1 cells [Yang et al. DOI:10.1016/j.jot.2021.09.003].