Q13950

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	RUNX2_HUMAN; Q13950;
Entrez ID	860
GenBank Protein ID	NM_001015051.3; NM_001024630.3;
GenBank Nucleotide ID	NP_001015051.3; NP_001019801.3;
Protein Name	Runt-related transcription factor 2 (Acute myeloid leukemia 3 protein) (Core-binding factor subunit alpha-1) (CBF-alpha-1) (Oncogene AML-3) (Osteoblast-specific transcription factor 2) (OSF-2) (Polyomavirus enhancer-binding protein 2 alpha A subunit) (PEA
Gene Name	RUNX2; AML3; CBFA1; OSF2; PEBP2A
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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. Functional Description 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.
Sequence (Fasta)	MASNSLFSTV TPCQQNFFWD PSTSRRFSPP SSSLQPGKMS DVSPVVAAQQ QQQQQQQQQQ 60 QQQQQQQQQQ QEAAAAAAAA AAAAAAAAAV PRLRPPHDNR TMVEIIADHP AELVRTDSPN 120 FLCSVLPSHW RCNKTLPVAF KVVALGEVPD GTVVTVMAGN DENYSAELRN ASAVMKNQVA 180 RFNDLRFVGR SGRGKSFTLT ITVFTNPPQV ATYHRAIKVT VDGPREPRRH RQKLDDSKPS 240 LFSDRLSDLG RIPHPSMRVG VPPQNPRPSL NSAPSPFNPQ GQSQITDPRQ AQSSPPWSYD 300 QSYPSYLSQM TSPSIHSTTP LSSTRGTGLP AITDVPRRIS DDDTATSDFC LWPSTLSKKS 360 QAGASELGPF SDPRQFPSIS SLTESRFSNP RMHYPATFTY TPPVTSGMSL GMSATTHYHT 420 YLPPPYPGSS QSQSGPFQTS STPYLYYGTS SGSYQFPMVP GGDRSPSRML PPCTTTSNGS 480 TLLNPNLPNQ NDGVDADGSH SSSPTVLNSS GRMDESVWRP Y 522 Fasta Sequence >Q13950\|RUNX2; AML3; CBFA1; OSF2; PEBP2A\|Homo sapiens (Human) MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQQQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPNFLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSKPSLFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYDQSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKSQAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHTYLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGSTLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Phosphorylation	Prostate cancer/carcinoma/adenocarcinoma	tumor tissue	U		22966907
1	[Reference]: Phosphorylation of RUNX2 and Smad 5 as well as RANKL expression are significantly increased in human prostate cancer
2	Serine Phosphorylation	Prostate cancer/carcinoma/adenocarcinoma		U	S312	25867060
2	[Reference]: Role of Runx2 phosphorylation in prostate cancer and association with metastatic disease.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 11) (view all)	MESH:D015535 ; Arthritis, Psoriatic MESH:D001172 ; Arthritis, Rheumatoid MESH:D002973 ; Cleidocranial Dysplasia MESH:D019465 ; Craniofacial Abnormalities MESH:C563586 ; Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly MESH:D010003 ; Osteoarthritis MESH:D012516 ; Osteosarcoma MESH:D025241 ; Spondylarthritis MESH:D018640 ; Stomatognathic System Abnormalities MESH:D014071 ; Tooth Abnormalities MESH:D014511 ; Uremia
HGMD (count: 97) (view all)	CE972855; Cleidocranial dysplasia; Repeat variations CP973617; Cleidocranial dysplasia; Complex rearrangements CD020594; Cleidocranial dysplasia; Small deletions CD972111; Cleidocranial dysplasia; Small deletions CD992744; Cleidocranial dysplasia; Small deletions CD992745; Cleidocranial dysplasia; Small deletions CD020595; Cleidocranial dysplasia; Small deletions CD993249; Cleidocranial dysplasia; Small deletions CD054998; Cleidocranial dysplasia; Small deletions CD031879; Cleidocranial dysplasia; Small deletions CD992742; Cleidocranial dysplasia; Small deletions CD993030; Cleidocranial dysplasia; Small deletions CD053603; Cleidocranial dysplasia; Small deletions CD053604; Cleidocranial dysplasia; Small deletions CD053605; Cleidocranial dysplasia; Small deletions CD054999; Cleidocranial dysplasia; Small deletions CD020593; Cleidocranial dysplasia; Small deletions CD031880; Cleidocranial dysplasia; Small deletions CD993028; Cleidocranial dysplasia; Small deletions CD992743; Cleidocranial dysplasia; Small deletions CD003986; Cleidocranial dysplasia; Small deletions CD993029; Cleidocranial dysplasia; Small deletions CD993248; Cleidocranial dysplasia; Small deletions CD013655; Cleidocranial dysplasia; Small deletions CG995003; Cleidocranial dysplasia; Gross deletions CG068408; Cleidocranial dysplasia; Gross deletions CG085907; Cleidocranial dysplasia; Gross deletions CN064831; Craniosynostosis; Gross insertions CX055037; Cleidocranial dysplasia; Small indels CP995115; Cleidocranial dysplasia; Small indels CI063723; Cleidocranial dysplasia; Small insertions CI052560; Cleidocranial dysplasia; Small insertions CI053663; Cleidocranial dysplasia; Small insertions CI993085; Cleidocranial dysplasia; Small insertions CI993282; Cleidocranial dysplasia; Small insertions CI068410; Cleidocranial dysplasia; Small insertions CI992788; Cleidocranial dysplasia; Small insertions CI053664; Cleidocranial dysplasia; Small insertions CI004232; Cleidocranial dysplasia; Small insertions CI993086; Cleidocranial dysplasia; Small insertions CI031921; Cleidocranial dysplasia; Small insertions CI020614; Cleidocranial dysplasia; Small insertions CM060465; Cleidocranial dysplasia; Missense/nonsense CM021321; Cleidocranial dysplasia; Missense/nonsense CM054104; Cleidocranial dysplasia; Missense/nonsense CM020505; Cleidocranial dysplasia; Missense/nonsense CM020506; Cleidocranial dysplasia; Missense/nonsense CM060466; Cleidocranial dysplasia; Missense/nonsense CM992831; Cleidocranial dysplasia; Missense/nonsense CM992832; Cleidocranial dysplasia; Missense/nonsense CM992833; Cleidocranial dysplasia; Missense/nonsense CM054103; Cleidocranial dysplasia; Missense/nonsense CM053398; Cleidocranial dysplasia; Missense/nonsense CM031722; Cleidocranial dysplasia; Missense/nonsense CM060467; Cleidocranial dysplasia; Missense/nonsense CM076493; Cleidocranial dysplasia; Missense/nonsense CM004420; Cleidocranial dysplasia; Missense/nonsense CM992607; Cleidocranial dysplasia; Missense/nonsense CM020507; Cleidocranial dysplasia; Missense/nonsense CM085673; Cleidocranial dysplasia; Missense/nonsense CM992608; Cleidocranial dysplasia; Missense/nonsense CM020508; Cleidocranial dysplasia; Missense/nonsense CM970230; Cleidocranial dysplasia; Missense/nonsense CM003963; Cleidocranial dysplasia; Missense/nonsense CM992609; Cleidocranial dysplasia; Missense/nonsense CM970231; Cleidocranial dysplasia; Missense/nonsense CM056382; Cleidocranial dysplasia; Missense/nonsense CM992610; Cleidocranial dysplasia; Missense/nonsense CM003964; Cleidocranial dysplasia; Missense/nonsense CM992611; Cleidocranial dysplasia; Missense/nonsense CM992612; Cleidocranial dysplasia; Missense/nonsense CM020509; Cleidocranial dysplasia; Missense/nonsense CM993114; Cleidocranial dysplasia; Missense/nonsense CM992613; Cleidocranial dysplasia; Missense/nonsense CM014089; Cleidocranial dysplasia; Missense/nonsense CM022831; Cleidocranial dysplasia; Missense/nonsense CM022832; Cleidocranial dysplasia; Missense/nonsense CM031723; Cleidocranial dysplasia; Missense/nonsense CM077968; Cleidocranial dysplasia; Missense/nonsense CM992614; Cleidocranial dysplasia; Missense/nonsense CM992834; Cleidocranial dysplasia; Missense/nonsense CM020510; Cleidocranial dysplasia; Missense/nonsense CM053399; Cleidocranial dysplasia; Missense/nonsense CM970232; Cleidocranial dysplasia; Missense/nonsense CM020511; Cleidocranial dysplasia; Missense/nonsense CM992615; Cleidocranial dysplasia; Missense/nonsense CM073320; Cleidocranial dysplasia; Missense/nonsense CM021322; Cleidocranial dysplasia; Missense/nonsense CS060565; Cleidocranial dysplasia; Splicing CS020548; Cleidocranial dysplasia; Splicing CS031802; Cleidocranial dysplasia; Splicing CS003978; Cleidocranial dysplasia; Splicing CS020549; Cleidocranial dysplasia; Splicing CS053486; Cleidocranial dysplasia; Splicing CS992700; Cleidocranial dysplasia; Splicing CS068409; Cleidocranial dysplasia; Splicing CS022883; Cleidocranial dysplasia; Splicing
GWASdb (count: 22) (view all)	rs12199720; Transmission distortion; Null rs3763190; Cognitive impairment induced by topiramate; cognitive disorder rs4510673; Lymphocyte counts; asthma\|leukemia\|lymphoma\|lymphopenia\|cardiovascular system disease rs717987; Lipid traits; lipid metabolism disorder\|cardiovascular system disease\|obesity rs11968177; Type 2 diabetes; type 2 diabetes mellitus rs1321075; Alcoholism (heaviness of drinking); alcohol dependence rs16873429; Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption); hypertension rs7750470; Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption); hypertension rs6930053; Type 2 diabetes; type 2 diabetes mellitus rs10485422; Pancreatic cancer; pancreatic cancer rs6458444; Pancreatic cancer; pancreatic cancer rs6458445; Pancreatic cancer; pancreatic cancer rs7755257; Pancreatic cancer; pancreatic cancer rs12195878; Pancreatic cancer; pancreatic cancer rs2031966; Pancreatic cancer; pancreatic cancer rs4438954; Pancreatic cancer; pancreatic cancer rs13207392; Pancreatic cancer; pancreatic cancer rs11756145; Pancreatic cancer; pancreatic cancer rs6458446; Pancreatic cancer; pancreatic cancer rs6905181; Pancreatic cancer; pancreatic cancer rs12208240; Lung function (forced expiratory volume in 1 second); lung disease rs12209785; Pancreatic cancer; pancreatic cancer

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 21) (view all)	118 AELVRTDSPNFLCSV dbPAF 237 HRQKLDDSKPSLFSD dbPAF 24 FFWDPSTSRRFSPPS dbPAF 247 SLFSDRLSDLGRIPH dbPAF 275 PSLNSAPSPFNPQGQ dbPAF 28 PSTSRRFSPPSSSLQ dbPAF 294 DPRQAQSSPPWSYDQ dbPAF 31 SRRFSPPSSSLQPGK dbPAF 312 SYLSQMTSPSIHSTT dbPAF 314 LSQMTSPSIHSTTPL dbPAF 32 RRFSPPSSSLQPGKM dbPAF 33 RFSPPSSSLQPGKMS dbPAF 340 TDVPRRISDDDTATS dbPAF 347 SDDDTATSDFCLWPS dbPAF 388 SLTESRFSNPRMHYP dbPAF 43 PGKMSDVSPVVAAQQ dbPAF 451 YLYYGTSSGSYQFPM dbPAF 465 MVPGGDRSPSRMLPP dbPAF 499 DGVDADGSHSSSPTV dbPAF 503 ADGSHSSSPTVLNSS dbPAF 521 DESVWRPY******* dbPAF
Acetylation (count: 1)	238 RQKLDDSKPSLFSDR PLMD
Ubiquitination (count: 4)	233 EPRRHRQKLDDSKPS PLMD 238 RQKLDDSKPSLFSDR PLMD 358 LWPSTLSKKSQAGAS PLMD 359 WPSTLSKKSQAGASE PLMD