UniProt:Q13950-2 RUNX2

chain
  • chain:1-521
checksum 44C4F3867D6F3EB1
comment
  • FUNCTION 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.SUBUNIT Heterodimer of an alpha and a beta subunit. The alpha subunit binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Interacts with XRCC6 (Ku70) and XRCC5 (Ku80). Interacts with HIVEP3. Interacts with IFI204. Interaction with SATB2; the interaction results in enhanced DNA binding and transactivation by these transcription factors. Binds to HIPK3. Interacts with FOXO1 (via a C-terminal region); the interaction inhibits RUNX2 transcriptional activity towards BGLAP. This interaction is prevented on insulin or IGF1 stimulation as FOXO1 is exported from the nucleus (By similarity). Interacts with CCNB1, KAT6A and KAT6B. Interacts with FOXP3. Interacts with TMEM119 (By similarity). Interacts with OLFM2 (By similarity). Interacts with IPO7; the interaction inhibits RUNX2 nuclear translocation in osteoblasts (By similarity).SUBUNIT Interacts with DDX5.INTERACTION Specifically expressed in osteoblasts.DOMAIN A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional activation of target genes and contains the phosphorylation sites.PTM Phosphorylated; probably by MAP kinases (MAPK). Phosphorylation by HIPK3 is required for the SPEN/MINT and FGF2 transactivation during osteoblastic differentiation (By similarity). Phosphorylation at Ser-451 by CDK1 promotes endothelial cell proliferation required for tumor angiogenesis probably by facilitating cell cycle progression. Isoform 3 is phosphorylated on Ser-340.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry. Analysis for copy-number variations revealed that a 105 kb duplication within RUNX2 segregated with the MDMHB phenotype in a region with maximum linkage. Real-time PCR for copy-number variation in genomic DNA in eight samples, as well as sequence analysis of fibroblast cDNA from one subject with MDMHB confirmed that affected family members were heterozygous for the presence of an intragenic duplication encompassing exons 3 to 5 of RUNX2. These three exons code for the Q/A domain and the functionally essential DNA-binding Runt domain of RUNX2. The RUNX2 duplication found in individuals with MDMHB leads to a gain of function (PubMed:23290074).
crossReference
databaseName UniProt
dbId 153403
description
  • recommendedName: Runt-related transcription factor 2 alternativeName: Acute myeloid leukemia 3 protein alternativeName: Core-binding factor subunit alpha-1 shortName: CBF-alpha-1 alternativeName: Oncogene AML-3 alternativeName: Osteoblast-specific transcription factor 2 shortName: OSF-2 alternativeName: Polyomavirus enhancer-binding protein 2 alpha A subunit shortName: PEA2-alpha A shortName: PEBP2-alpha A alternativeName: SL3-3 enhancer factor 1 alpha A subunit alternativeName: SL3/AKV core-binding factor alpha A subunit
displayName UniProt:Q13950-2 RUNX2
geneName
  • RUNX2
  • AML3
  • CBFA1
  • OSF2
  • PEBP2A
identifier Q13950
isSequenceChanged false
isoformParent
keyword
  • 3D-structure
  • Alternative splicing
  • Cytoplasm
  • Differentiation
  • Disease variant
  • DNA-binding
  • Dwarfism
  • Isopeptide bond
  • Methylation
  • Nucleus
  • Phosphoprotein
  • Reference proteome
  • Transcription
  • Transcription regulation
  • Ubl conjugation
modified [InstanceEdit:12187927] Wright, Adam, 2024-03-12
name
  • RUNX2
otherIdentifier
  • 11725180_a_at
  • 11738448_a_at
  • 17009289
  • 216994_PM_s_at
  • 216994_s_at
  • 221282_PM_x_at
  • 221282_x_at
  • 232231_PM_at
  • 232231_at
  • 236859_PM_at
  • 236859_at
  • 2908763
  • 2908764
  • 2908765
  • 2908766
  • 2908767
  • 2908768
  • 2908774
  • 2908775
  • 2908782
  • 2908783
  • 2908785
  • 2908804
  • 2908810
  • 2908820
  • 2908822
  • 2908823
  • 34501_at
  • 34502_g_at
  • 53261_at
  • 8120043
  • 860
  • A_14_P119973
  • A_14_P200868
  • A_24_P69267
  • A_32_P161762
  • A_33_P3316508
  • GE57763
  • GE87963
  • GO:0000785
  • GO:0000976
  • GO:0000978
  • GO:0000981
  • GO:0000987
  • GO:0001228
  • GO:0001501
  • GO:0001503
  • GO:0001649
  • GO:0001958
  • GO:0002051
  • GO:0002062
  • GO:0002063
  • GO:0002076
  • GO:0002376
  • GO:0003677
  • GO:0003682
  • GO:0003700
  • GO:0005515
  • GO:0005524
  • GO:0005634
  • GO:0005654
  • GO:0005667
  • GO:0005694
  • GO:0005737
  • GO:0005829
  • GO:0006351
  • GO:0006355
  • GO:0006357
  • GO:0007224
  • GO:0008283
  • GO:0008284
  • GO:0010467
  • GO:0010468
  • GO:0010628
  • GO:0019904
  • GO:0023052
  • GO:0030097
  • GO:0030154
  • GO:0030182
  • GO:0030217
  • GO:0030278
  • GO:0030282
  • GO:0030509
  • GO:0031490
  • GO:0032332
  • GO:0035115
  • GO:0036076
  • GO:0040036
  • GO:0042475
  • GO:0042487
  • GO:0043226
  • GO:0043425
  • GO:0045595
  • GO:0045667
  • GO:0045669
  • GO:0045879
  • GO:0045892
  • GO:0045893
  • GO:0045944
  • GO:0048469
  • GO:0048701
  • GO:0048705
  • GO:0048856
  • GO:0048863
  • GO:0050673
  • GO:0050679
  • GO:0051094
  • GO:0060395
  • GO:0072089
  • GO:0140110
  • GO:0140297
  • GO:1904383
  • GO:1990837
  • GO:2000648
  • HMNXSV003005224
  • HMNXSV003013710
  • HMNXSV003025019
  • Hs.122116.0.A1_3p_at
  • Hs.50115.0.S1_3p_at
  • ILMN_1669066
  • ILMN_1716651
  • ILMN_2377746
  • L40992_at
  • PH_hs_0006824
  • PH_hs_0038735
  • TC06000621.hg
  • g10863884_3p_a_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceIsoform
secondaryIdentifier
  • RUNX2_HUMAN
  • O14614
  • O14615
  • O95181
sequenceLength 521
species [Species:48887] Homo sapiens
url https://purl.uniprot.org/uniprot/Q13950-2
variantIdentifier Q13950-2
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