Bioinformatics Database

RUNX2: RUNX family transcription factor 2

RUNX2: RUNX family transcription factor 2
3D Protein Structure Viewer​
Cellular Process
Enamel and Dentin formation
Gene Name
RUNX2: RUNX family transcription factor 2
Gene ID
860
General Description
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.
Alternative titles; symbols
Core-Binding Factor, RUNT Domain, Alpha Subunit 1; CBFA1 AML3 GENE; AML3 PEBP2-ALPHA-A OSF2
Chromosome
Chromosome 6
Cytogenetic location
6p21.1
Encoded Protein

Runt-related transcription factor 2 isoform a

https://www.ncbi.nlm.nih.gov/protein/NP_001019801.3/

Function of the protein in oral and tooth development

The Runx2 gene is a master transcription factor of bone and plays a role in all stages of bone formation. RUNX2 is also essential for the later stages of tooth formation, and is involved in the development of calcified tooth tissue (Camilleri et al.,2006).

As described by Xin et al., (2022) in a review: "RUNX2 promotes osteogenesis around the radicular portion of the dental follicle that provides the biological force for tooth eruption through inducing the expression of osteogenesis-related genes in dental follicle cells/osteoblasts. On the other hand, through indirect and direct pathways, RUNX2 regulates osteoclastogenesis and the formation of the eruption pathway."

Dental and Oral Diseases

Cleidocranial dysplasia;
Cleidocranial dysplasia, forme fruste, dental anomalies only;
Cleidocranial dysplasia, forme fruste, with brachydactyly;
Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly

(OMIM ID: 600211)

Protein Sequence
>NP_001019801.3 runt-related transcription factor 2 isoform a [Homo sapiens] 
MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQQQQQQQQQQQ 
QEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPNFLCSVLPSHWRCNKTLPVAF 
KVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQV 
ATYHRAIKVTVDGPREPRRHRQKLDDSKPSLFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQ 
GQSQITDPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFC 
LWPSTLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHT 
YLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGSTLLNPNLPNQ 
NDGVDADGSHSSSPTVLNSSGRMDESVWRPY
Mutations

Cleidocranial dysplasia:
16-BP INS; TRP283TER (Mundlos et al., 1997).
MET175ARG; SER191ASN (Lee et al., 1997).
1-BP INS, 1228C (Zheng et al., 2005).
ARG225GLN; ARG225TRP (Quack et al., 1999)
TER522SER (Machuca-Tzili et al., 2002).
ARG169PRO (Morava et al., 2002).

Cleidocranial dysplasia, forme fruste, dental anomalies only:
THR200ALA (Zhou et al., 1999).
1-BP INS, 1380C (Quack et al., 1999).

Cleidocranial dysplasia, forme fruste, with brachydactyly:
30-BP DUP, ALANINE TRACT EXPANSION (Mundlos et al., 1997).

Cleidocranial dysplasia, severe, with osteoporosis and scoliosis:
1-BP INS, 1206C (Quack et al., 1999).

Related Literature

Camilleri, S., & McDonald, F. (2006): https://doi.org/10.1111/j.1600-0722.2006.00399.x

Zheng et al., (2005): https://doi.org/10.1086/432261

Quack et al., (1999): https://doi.org/10.1086/302622

Zhou et al., (1999): https://doi.org/10.1093/hmg/8.12.2311

Mundlos et al., (1997): https://doi.org/10.1016/s0092-8674(00)80260-3

Lee et al., (1997): https://doi.org/10.1038/ng0797-307

Machuca-Tzili et al., (2002): https://doi.org/10.1034/j.1399-0004.2002.610505.x

Morava et al., (2002): https://doi.org/10.1007/s00431-002-0977-x

Xin et al., (2022). https://doi.org/10.1016/j.archoralbio.2022.105484