RUNX2 angl Runt related transcription factor 2 bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 6 yi hromosomi 4 Dovzhina polipeptidnogo lancyuga bilka stanovit 521 aminokislot a molekulyarna masa 56 648 5 RUNX2IdentifikatoriSimvoliRUNX2 AML3 CBF alpha 1 CBFA1 CCD CCD1 CLCD OSF 2 OSF2 PEA2aA PEBP2aA runt related transcription factor 2 Runx2 mRNA RUNX family transcription factor 2Zovnishni ID OMIM 600211 MGI 99829 HomoloGene 68389 GeneCards RUNX2Pov yazani genetichni zahvoryuvannyametaphyseal dysplasia maxillary hypoplasia brachydacty syndrome 1 Ontologiya genaMolekulyarna funkciya DNA binding protein domain specific binding GO 0001131 GO 0001151 GO 0001130 GO 0001204 DNA binding transcription factor activity GO 0001077 GO 0001212 GO 0001213 GO 0001211 GO 0001205 DNA binding transcription activator activity RNA polymerase II specific chromatin binding GO 0000980 RNA polymerase II cis regulatory region sequence specific DNA binding bHLH transcription factor binding GO 0001948 GO 0016582 protein binding ATP binding GO 0001200 GO 0001133 GO 0001201 DNA binding transcription factor activity RNA polymerase II specificKlitinna komponenta citoplazma transcription regulator complex klitinne yadro Nukleoplazma gialoplazmaBiologichnij proces skeletal system development GO 0009373 regulation of transcription DNA templated negative regulation of smoothened signaling pathway chondrocyte differentiation Osifikaciya GO 0044324 GO 0003256 GO 1901213 GO 0046019 GO 0046020 GO 1900094 GO 0061216 GO 0060994 GO 1902064 GO 0003258 GO 0072212 regulation of transcription by RNA polymerase II regulation of fibroblast growth factor receptor signaling pathway skeletal system morphogenesis chondrocyte development cellular response to BMP stimulus endochondral ossification regulation of odontogenesis of dentin containing tooth cell maturation BMP signaling pathway stem cell differentiation transcription DNA templated odontogenesis of dentin containing tooth T cell differentiation GO 1901313 positive regulation of gene expression regulation of osteoblast differentiation positive regulation of chondrocyte differentiation osteoblast differentiation neuron differentiation positive regulation of cell population proliferation regulation of cell differentiation osteoblast development embryonic cranial skeleton morphogenesis regulation of ossification embryonic forelimb morphogenesis GO 0007329 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus osteoblast fate commitment GO 0045996 negative regulation of transcription DNA templated GO 0060469 GO 0009371 positive regulation of transcription DNA templated transcription initiation from RNA polymerase II promoter positive regulation of osteoblast differentiation GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II Diferenciaciya klitin krovotvorennya Regulyaciya ekspresiyi genivDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez860 12393Ensembl ENSG00000124813 ENSMUSG00000039153UniProt Q13950 Q08775RefSeq mRNK NM 001015051NM 001024630NM 001278478NM 004348NM 001369405NM 001145920NM 001146038NM 001271627NM 001271630NM 001271631NM 001271633NM 009820RefSeq bilok NP 001015051NP 001019801NP 001265407NP 001356334NP 001139392NP 001139510NP 001258556NP 001258559NP 001258560NP 033950Lokus UCSC Hr 6 45 33 45 66 MbHr 17 44 81 45 13 MbPubMed search 2 3 VikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQQQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPNFLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSKPSLFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGSTLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPYA Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyeyu nalezhit do fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak transkripciya regulyaciya transkripciyi alternativnij splajsing Bilok maye sajt dlya zv yazuvannya z DNK Lokalizovanij u yadri Literatura red Geoffroy V Corral D A Zhou L Lee B Karsenty G 1998 Genomic organization expression of the human CBFA1 gene and evidence for an alternative splicing event affecting protein function Mamm Genome 9 54 57 PubMed DOI 10 1007 s003359900679 Xiao Z S Thomas R Hinson T K Quarles L D 1998 Genomic structure and isoform expression of the mouse rat and human Cbfa1 Osf2 transcription factor Gene 214 187 197 PubMed DOI 10 1016 S0378 1119 98 00227 3 Zhang Y W Bae S C Takahashi E Ito Y 1997 The cDNA cloning of the transcripts of human PEBP2alphaA CBFA1 mapped to 6p12 3 p21 1 the locus for cleidocranial dysplasia Oncogene 15 367 371 PubMed DOI 10 1038 sj onc 1201352 Pelletier N Champagne N Stifani S Yang X J 2002 MOZ and MORF histone acetyltransferases interact with the Runt domain transcription factor Runx2 Oncogene 21 2729 2740 PubMed DOI 10 1038 sj onc 1205367 Machuca Tzili L Monroy Jaramillo N Gonzalez del Angel A Kofman Alfaro S 2002 New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia Clin Genet 61 349 353 PubMed DOI 10 1034 j 1399 0004 2002 610505 x Otto F Kanegane H Mundlos S 2002 Mutations in the RUNX2 gene in patients with cleidocranial dysplasia Hum Mutat 19 209 216 PubMed DOI 10 1002 humu 10043Primitki red Zahvoryuvannya genetichno pov yazani z RUNX2 pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 10472 angl Procitovano 6 veresnya 2017 UniProt Q13950 angl Arhiv originalu za 29 serpnya 2017 Procitovano 6 veresnya 2017 Div takozh red Hromosoma 6 nbsp Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi Otrimano z https uk wikipedia org w index php title RUNX2 amp oldid 35715397
