Runt-Related Transcription Factor 2

Alternative Names

  • RUNX2
  • Core-Binding Factor, Runt Domain, Alpha Subunit 1
  • CBFA1
  • AML3 Gene
  • AML3
  • PEBP2-Alpha-A
  • OSF2

Associated Diseases

Cleidocranial Dysplasia
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OMIM Number

600211

NCBI Gene ID

860

Uniprot ID

Q13950

Length

222,753 bases

No. of Exons

10

No. of isoforms

3

Protein Name

Runt-related transcription factor 2

Molecular Mass

56648 Da

Amino Acid Count

521

Genomic Location

chr6:45,328,329-45,551,081

Gene Map Locus
6p21.1

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. 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. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001024630.4:c.568C>TUnited Arab EmiratesNC_000006.12:g.45432007C>TPathogenicPathogenicCleidocranial DysplasiaNG_008020.2:g.108691C>T; NM_001024630.4:c.568C>T; NP_001015051.3:p.Arg190Trp1071563
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