Rabbit anti-Human RUNX2 Polyclonal Antibody

Uniprot Id

Q13950

Target Species

Human

Target Name

RUNX2

Target Full Name

Runt-related transcription factor 2

Target Function

Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis. 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). Inhibits KAT6B-dependent transcriptional activation.

Target Involvement

Cleidocranial dysplasia (CLCD); Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB)

Target Subcellular Location

Nucleus.

Target Tissue Specificity

Specifically expressed in osteoblasts.

Target Synonyms

Acute myeloid leukemia 3 protein; Alpha subunit 1; AML3; CBF alpha 1 ; CBF-alpha-1; CBFA1; CCD; CCD1; Cleidocranial dysplasia 1; Core binding factor; Core binding factor runt domain alpha subunit 1; Core binding factor subunit alpha 1; Core-binding factor subunit alpha-1; MGC120022; MGC120023; Oncogene AML 3; Oncogene AML-3; OSF 2; OSF-2; OSF2; Osteoblast specific transcription factor 2 ; Osteoblast-specific transcription factor 2; OTTHUMP00000016533; PEA2 alpha A; PEA2-alpha A; PEA2aA; PEBP2 alpha A; PEBP2-alpha A; PEBP2A1; PEBP2A2; PEBP2aA; PEBP2aA1; Polyomavirus enhancer binding protein 2 alpha A subunit ; Polyomavirus enhancer-binding protein 2 alpha A subunit; Runt domain; Runt related transcription factor 2; Runt-related transcription factor 2; RUNX2; RUNX2_HUMAN; SL3 3 enhancer factor 1 alpha A subunit ; SL3-3 enhancer factor 1 alpha A subunit; SL3/AKV core binding factor alpha A subunit ; SL3/AKV core-binding factor alpha A subunit

Target Background

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.