full name
runt related transcription factor 2

synonyms
AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA, RUNX2, ENSG00000124813

HGNC
HGNC:10472

Entrez Gene
Gene:860

ENSEMBL
ENSG00000124813

location
chr: 6
start: 45296054
stop: 45518819
strand: +

OMIM
OMIM:600211: RUNX2 (Autosomal dominant inheritance)
OMIM:119600: Cleidocranial dysplasia
OMIM:119600: Cleidocranial dysplasia, forme fruste, dental anomalies only
OMIM:119600: Cleidocranial dysplasia, forme fruste, with brachydactyly
OMIM:156510: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly

transcripts
NM_001024630.3
NM_001015051.3
NR_103532.1
NR_103533.1
NM_001278478.1

pathways
FGF signaling pathway [NCBI:137989] [Pathway Interaction Database:fgf_pathway] [PUBMED:12419216] [PUBMED:16775459] [PUBMED:1656221] [PUBMED:16857743] [PUBMED:8707855] [PUBMED:17545628] [PUBMED:17623664] [PUBMED:16893902] [PUBMED:15105428] [PUBMED:16436388] [PUBMED:12370824] [PUBMED:9707175] [PUBMED:1380001] [PUBMED:15569927] [PUBMED:11241670] [PUBMED:11433297] [PUBMED:16709412] [PUBMED:12815057] [PUBMED:14966081] [PUBMED:17086194] [PUBMED:17311277] [PUBMED:14534538] [PUBMED:12398894] [PUBMED:8940113] [PUBMED:17266935] [PUBMED:10652257] [PUBMED:12604616] [PUBMED:14666721] [PUBMED:9045692] [PUBMED:15509650] [PUBMED:11353842] [PUBMED:12791257] [PUBMED:15564375] [PUBMED:12529371] [PUBMED:17409417] [PUBMED:17005551] [PUBMED:12815619] [PUBMED:11997436] [PUBMED:12110689] [PUBMED:17627937]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
Notch-mediated HES/HEY network [NCBI:169347] [Pathway Interaction Database:hes_heypathway] [PUBMED:15546612] [PUBMED:11038350] [PUBMED:12065598] [PUBMED:11741889] [PUBMED:10851137] [PUBMED:10205173] [PUBMED:10747963] [PUBMED:10913198] [PUBMED:11101851] [PUBMED:16201968] [PUBMED:12488457] [PUBMED:12370315] [PUBMED:19116245] [PUBMED:16025100] [PUBMED:11486044] [PUBMED:15607978] [PUBMED:15467735] [PUBMED:14739937] [PUBMED:9694793] [PUBMED:8749394] [PUBMED:16782059] [PUBMED:12972610] [PUBMED:17392792] [PUBMED:11334435] [PUBMED:11486045] [PUBMED:16753023] [PUBMED:15485867] [PUBMED:15866158] [PUBMED:16199874] [PUBMED:12374742] [PUBMED:9570950] [PUBMED:10964718] [PUBMED:16682003] [PUBMED:16287852] [PUBMED:10692439] [PUBMED:11095750] [PUBMED:11287612] [PUBMED:15314183] [PUBMED:15156153] [PUBMED:15684393] [PUBMED:7566092] [PUBMED:11604511] [PUBMED:9819403] [PUBMED:15563463] [PUBMED:15870295]
Regulation of nuclear SMAD2/3 signaling [NCBI:137963] [Pathway Interaction Database:smad2_3nuclearpathway] [PUBMED:15009097] [PUBMED:11790301] [PUBMED:11836524] [PUBMED:10995736] [PUBMED:11114293] [PUBMED:10973944] [PUBMED:10022869] [PUBMED:11058129] [PUBMED:9722503] [PUBMED:12904571] [PUBMED:14993291] [PUBMED:11013220] [PUBMED:15363409] [PUBMED:9702197] [PUBMED:12718878] [PUBMED:11331591] [PUBMED:12167862] [PUBMED:14729983] [PUBMED:9707553] [PUBMED:10878024] [PUBMED:9679060] [PUBMED:10887155] [PUBMED:10199400] [PUBMED:12631740] [PUBMED:11555647] [PUBMED:15688032] [PUBMED:12150994] [PUBMED:12374795] [PUBMED:9606191] [PUBMED:9702198] [PUBMED:10518526] [PUBMED:10575014] [PUBMED:10485843] [PUBMED:11283614] [PUBMED:10722728] [PUBMED:10037600] [PUBMED:15241418] [PUBMED:14691252] [PUBMED:10748032] [PUBMED:12551947] [PUBMED:14671321] [PUBMED:11427533] [PUBMED:11711431] [PUBMED:10531362] [PUBMED:11571228] [PUBMED:10085140] [PUBMED:17478422] [PUBMED:15044954] [PUBMED:10964912] [PUBMED:11707452] [PUBMED:11801598] [PUBMED:17074756] [PUBMED:12226080] [PUBMED:10557285] [PUBMED:10843994] [PUBMED:15084259] [PUBMED:10531062] [PUBMED:16959612] [PUBMED:9679056] [PUBMED:10652350] [PUBMED:9618481] [PUBMED:11927558] [PUBMED:9732876]
Regulation of retinoblastoma protein [NCBI:137916] [Pathway Interaction Database:rb_1pathway] [PUBMED:15469821] [PUBMED:11470869] [PUBMED:8493578] [PUBMED:7596417] [PUBMED:8449399] [PUBMED:9468140] [PUBMED:11596110] [PUBMED:9545246] [PUBMED:16360038] [PUBMED:14673169] [PUBMED:17991896] [PUBMED:8805225] [PUBMED:7926730] [PUBMED:10322110] [PUBMED:11533237] [PUBMED:1828393] [PUBMED:8657117] [PUBMED:9491888] [PUBMED:7877691] [PUBMED:14729964] [PUBMED:1710781] [PUBMED:10778858] [PUBMED:11566021] [PUBMED:8246996] [PUBMED:12450794] [PUBMED:16374512] [PUBMED:10783144] [PUBMED:15949438] [PUBMED:9468139] [PUBMED:8242749] [PUBMED:9464541] [PUBMED:1531329] [PUBMED:9819434] [PUBMED:12479814] [PUBMED:10888886] [PUBMED:10597288] [PUBMED:8626527] [PUBMED:7629134] [PUBMED:11545733] [PUBMED:17620057] [PUBMED:11433299] [PUBMED:9858607] [PUBMED:15716956] [PUBMED:10490602] [PUBMED:1828392] [PUBMED:15577944] [PUBMED:11484059] [PUBMED:11583618] [PUBMED:10499802]
Transcriptional misregulation in cancer [NCBI:523016] [KEGG:hsa05202] [PUBMED:17327229] [PUBMED:20190806] [PUBMED:20145147] [PUBMED:11313274] [PUBMED:11863357] [PUBMED:19472090] [PUBMED:18330902] [PUBMED:19738075] [PUBMED:15024077] [PUBMED:12032780] [PUBMED:14630078] [PUBMED:21765642] [PUBMED:19564705] [PUBMED:17101797] [PUBMED:15160934] [PUBMED:15688424] [PUBMED:15985538] [PUBMED:12527902] [PUBMED:12511414] [PUBMED:11607818] [PUBMED:17222504] [PUBMED:15826838] [PUBMED:21747944] [PUBMED:19406209] [PUBMED:10350329] [PUBMED:21779514] [PUBMED:18563191] [PUBMED:16946003] [PUBMED:17250957] [PUBMED:12670461] [PUBMED:12529654] [PUBMED:18855877] [PUBMED:17505060] [PUBMED:20153925] [PUBMED:20490326] [PUBMED:12130514] [PUBMED:18648544] [PUBMED:19855079] [PUBMED:10717473] [PUBMED:20478527] [PUBMED:11340171] [PUBMED:16169901] [PUBMED:14998494] [PUBMED:19233641] [PUBMED:19133982] [PUBMED:12393465] [PUBMED:19059936] [PUBMED:18172298] [PUBMED:10500199] [PUBMED:19141473] [PUBMED:10537274] [PUBMED:15156184] [PUBMED:14701735] [PUBMED:19422821] [PUBMED:21518926] [PUBMED:18850010] [PUBMED:19075677] [PUBMED:18457914] [PUBMED:12527906] [PUBMED:15644444] [PUBMED:10784387] [PUBMED:17024155] [PUBMED:19075268] [PUBMED:15826834] [PUBMED:21849159] [PUBMED:21123453] [PUBMED:20974671] [PUBMED:20863376]
YAP1- and WWTR1 (TAZ)-stimulated gene expression [NCBI:1269653] [REACTOME:R-HSA-2032785] [PUBMED:16332960] [PUBMED:20452772]