QuickView for RUNX2 (gene)

Gene Symbol:

RUNX2 Homo sapiens

Full name:

runt related transcription factor 2

Synonyms:

AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA, runt-related transcription factor 2, PEA2-alpha A, PEBP2-alpha A, SL3-3 enhancer factor 1 alpha A subunit, SL3/AKV core-binding factor alpha A subunit, acute myeloid leukemia 3 protein, core-binding factor, runt domain, alpha subunit 1, oncogene AML-3, osteoblast-specific transcription factor 2, polyomavirus enhancer-binding protein 2 alpha A subunit

Genomic Location:

Chr 6: 45404032-45626797

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

FREAC7_01 ,  TTTGCAC_MIR19A_MIR19B ,  STAT4_01 ,  GGGATGC_MIR3245P ,  AAAGGGA_MIR204_MIR211 ,  HFH3_01 ,  AML_Q6 ,  CACGTG_MYC_Q2 ,  MAX_01 ,  GTGACTT_MIR224 ,  TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P ,  AMEF2_Q6 ,  TTGCACT_MIR130A_MIR301_MIR130B ,  AAGCAAT_MIR137 ,  OSF2_Q6 ,  TATAAA_TATA_01 ,  MYCMAX_02 ,  TGTATGA_MIR4853P ,  GCTTGAA_MIR498 ,  ATGCTGG_MIR338 ,  TGCACTG_MIR148A_MIR152_MIR148B ,  TGCCTTA_MIR124A ,  MYCMAX_01 ,  HNF3B_01 ,  ACCAAAG_MIR9 ,  FOXJ2_01 ,  USF_C ,  GATA6_01 ,  RACCACAR_AML_Q6 ,  AATGTGA_MIR23A_MIR23B ,  NMYC_01 ,  TTGTTT_FOXO4_01 ,  STAT5A_04 ,  TATA_01 ,  TGCTTTG_MIR330 ,  GTGGGTGK_UNKNOWN ,  MMEF2_Q6 ,  SMAD_Q6 ,  ATGAAGG_MIR205 ,  COREBINDINGFACTOR_Q6 ,  CACTTTG_MIR520G_MIR520H ,  TATTATA_MIR374 ,  AAGCACA_MIR218

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Cytogenetic Map:

6p21.1

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