======= RUNX2 ======= == Gene Information == * **Official Symbol**: RUNX2 * **Official Name**: RUNX family transcription factor 2 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=860|860]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q13950|Q13950]] * **Interactions**: [[https://thebiogrid.org/search.php?search=RUNX2&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RUNX2|Open PubMed]] * **OMIM**: [[https://omim.org/entry/600211|Open OMIM]] == Function Summary == * **Entrez 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]. * **UniProt Summary**: Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28738062, PubMed:28703881). Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, osteocalcin, osteopontin, bone sialoprotein, alpha 1(I) collagen, LCK, IL-3 and GM-CSF promoters. In osteoblasts, supports transcription activation: synergizes with SPEN/MINT to enhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE) (By similarity). Inhibits KAT6B-dependent transcriptional activation. {ECO:0000250, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:28505335, ECO:0000269|PubMed:28703881, ECO:0000269|PubMed:28738062}. |RunxI| |Runt| |osteoblast fate commitment| |regulation of odontogenesis of dentin-containing tooth| |osteoblast development| |positive regulation of chondrocyte differentiation| |positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus| |bHLH transcription factor binding| |regulation of odontogenesis| |replacement ossification| |endochondral ossification| |regulation of fibroblast growth factor receptor signaling pathway| |negative regulation of smoothened signaling pathway| |embryonic forelimb morphogenesis| |positive regulation of cartilage development| |repressing transcription factor binding| |forelimb morphogenesis| |chondrocyte development| |embryonic cranial skeleton morphogenesis| |regulation of chondrocyte differentiation| |positive regulation of osteoblast differentiation| |cranial skeletal system development| |regulation of cartilage development| |endochondral bone morphogenesis| |regulation of smoothened signaling pathway| |odontogenesis of dentin-containing tooth| |chondrocyte differentiation| |positive regulation of ossification| |BMP signaling pathway| |embryonic skeletal system morphogenesis| |response to BMP| |cellular response to BMP stimulus| |regulation of osteoblast differentiation| |bone morphogenesis| |odontogenesis| |embryonic limb morphogenesis| |embryonic appendage morphogenesis| |embryonic skeletal system development| |osteoblast differentiation| |T cell differentiation| |appendage morphogenesis| |limb morphogenesis| |stem cell differentiation| |cell maturation| |cartilage development| |transcription initiation from RNA polymerase II promoter| |appendage development| |limb development| |regulation of ossification| |transmembrane receptor protein serine/threonine kinase signaling pathway| |bone development| |transcription factor complex| |DNA-templated transcription, initiation| |connective tissue development| |T cell activation| |lymphocyte differentiation| |nuclear chromatin| |skeletal system morphogenesis| |developmental maturation| |protein domain specific binding| |cell fate commitment| |regulation of animal organ morphogenesis| |ossification| |regulation of cellular response to growth factor stimulus| |embryonic organ morphogenesis| |leukocyte differentiation| |lymphocyte activation| |chromatin binding| |embryonic organ development| |DNA-binding transcription activator activity, RNA polymerase II-specific| |transcription by RNA polymerase II| |skeletal system development| |cellular response to growth factor stimulus| |RNA polymerase II proximal promoter sequence-specific DNA binding| |response to growth factor| |hemopoiesis| |embryonic morphogenesis| |hematopoietic or lymphoid organ development| |chordate embryonic development| |transcription, DNA-templated| |nucleic acid-templated transcription| |immune system development| |embryo development ending in birth or egg hatching| |RNA biosynthetic process| |DNA-binding transcription factor activity| |enzyme linked receptor protein signaling pathway| |positive regulation of cell population proliferation| |leukocyte activation| |animal organ morphogenesis| |positive regulation of cell differentiation| |embryo development| |neuron differentiation| |regulation of anatomical structure morphogenesis| |cell activation| |nucleobase-containing compound biosynthetic process| |heterocycle biosynthetic process| |aromatic compound biosynthetic process| |negative regulation of transcription, DNA-templated| |positive regulation of transcription by RNA polymerase II| |cellular response to endogenous stimulus| |negative regulation of nucleic acid-templated transcription| |negative regulation of RNA biosynthetic process| |negative regulation of signal transduction| |organic cyclic compound biosynthetic process| |negative regulation of RNA metabolic process| |negative regulation of cell communication| |negative regulation of signaling| |positive regulation of developmental process| |negative regulation of cellular macromolecule biosynthetic process| |negative regulation of nucleobase-containing compound metabolic process| |negative regulation of macromolecule biosynthetic process| |response to endogenous stimulus| |ATP binding| |negative regulation of cellular biosynthetic process| |generation of neurons| |positive regulation of transcription, DNA-templated| |negative regulation of biosynthetic process| |DNA-binding transcription factor activity, RNA polymerase II-specific| |regulation of cell population proliferation| |negative regulation of response to stimulus| |neurogenesis| |cellular nitrogen compound biosynthetic process| |positive regulation of nucleic acid-templated transcription| |positive regulation of RNA biosynthetic process| |cell development| |RNA metabolic process| |cellular macromolecule biosynthetic process| |negative regulation of gene expression| |positive regulation of RNA metabolic process| |positive regulation of multicellular organismal process| |tissue development| |macromolecule biosynthetic process| |regulation of cell differentiation| |positive regulation of nucleobase-containing compound metabolic process| |positive regulation of macromolecule biosynthetic process| |positive regulation of cellular biosynthetic process| |positive regulation of gene expression| |gene expression| |positive regulation of biosynthetic process| \\ === CRISPR Data === No hits were found. No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 4/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|1/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|1/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 12949 * **Expression level (log2 read counts)**: -0.82 {{:chemogenomics:nalm6 dist.png?nolink |}}