Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	860
Gene name Gene Name - the full gene name approved by the HGNC.	RUNX family transcription factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RUNX2
Synonyms (NCBI Gene) Gene synonyms aliases	AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104893988	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs104893989	T>C,G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104893990	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104893991	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104893992	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104893993	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs104893994	G>C	Pathogenic	Genic downstream transcript variant, stop lost, terminator codon variant
rs104893995	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs397515537	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs397515538	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs606231174	TGCGGCGGCGGCGGCGGCTGCGGCGGCGGC>-,TGCGGCGGCGGCGGCGGCTGCGGCGGCGGCTGCGGCGGCGGCGGCGGCTGCGGCGGCGGC	Pathogenic	Inframe deletion, genic downstream transcript variant, inframe insertion, coding sequence variant
rs730880313	GCAGCAACAGCAGCA>ACAGCAGCAGCAGCAGCAGCAACAGCAGCCG	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs730880314	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs730880315	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs864621970	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057521068	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1554125882	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554384228	G>-	Pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582095109	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1582105417	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1582169095	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs1582232661	->C	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

Show/Hide all(324)

miRTarBase ID	miRNA	Experiments	Reference
MIRT003597	hsa-miR-135b-5p	qRT-PCR	19795981
MIRT004707	hsa-miR-155-5p	Luciferase reporter assay, qRT-PCR, Western blot	20427544
MIRT005888	hsa-miR-335-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21164520
MIRT006037	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT006079	hsa-miR-497-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006080	hsa-miR-195-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006037	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT006079	hsa-miR-497-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006080	hsa-miR-195-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006037	hsa-miR-203a-3p	Immunoblot, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	21159887
MIRT006079	hsa-miR-497-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006080	hsa-miR-195-5p	Luciferase reporter assay, Northern blot, qRT-PCR, Western blot	21350001
MIRT006895	hsa-miR-204-5p	Luciferase reporter assay, qRT-PCR, Western blot	22871591
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007225	hsa-miR-433-3p	Luciferase reporter assay	23353875
MIRT007289	hsa-miR-338-3p	Mass spectrometry	23380982
MIRT007289	hsa-miR-338-3p	Mass spectrometry	23380982
MIRT022898	hsa-miR-124-3p	Microarray	18668037
MIRT025969	hsa-miR-30d-5p	Reporter assay;Western blot	21767385
MIRT028618	hsa-miR-30a-5p	Reporter assay;Western blot	21767385
MIRT046115	hsa-miR-30b-5p	CLASH	23622248
MIRT041692	hsa-miR-484	CLASH	23622248
MIRT037957	hsa-miR-505-5p	CLASH	23622248
MIRT054479	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	23662917
MIRT054479	hsa-miR-218-5p	Luciferase reporter assay, qRT-PCR, Western blot	23662917
MIRT054635	hsa-miR-23b-3p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24613919
MIRT054925	hsa-miR-34c-5p	Luciferase reporter assay, qRT-PCR, Western blot	23720736
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25264196
MIRT046115	hsa-miR-30b-5p	Microarray, qRT-PCR, Luciferase reporter assay	23316327
MIRT219171	hsa-miR-30c-5p	Microarray, qRT-PCR, Luciferase reporter assay	23316327
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	25264196
MIRT046115	hsa-miR-30b-5p	Microarray, qRT-PCR, Luciferase reporter assay	23316327
MIRT219171	hsa-miR-30c-5p	Microarray, qRT-PCR, Luciferase reporter assay	23316327
MIRT006037	hsa-miR-203a-3p	Luciferase reporter assay, qRT-PCR, Western blot	25634212
MIRT731506	hsa-miR-205-5p	Luciferase reporter assay	27035764
MIRT731506	hsa-miR-205-5p	Luciferase reporter assay	27035764
MIRT731938	hsa-miR-320a	Luciferase reporter assay, qRT-PCR, Western blot	27965096
MIRT731938	hsa-miR-320a	Luciferase reporter assay, qRT-PCR, Western blot	27965096
MIRT755469	hsa-miR-30a-3p	Luciferase reporter assay, Western blot	26596830
MIRT006895	hsa-miR-204-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	25806689
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26449831
MIRT028618	hsa-miR-30a-5p	Western blot	26708080
MIRT006080	hsa-miR-195-5p	Immunohistochemistry (IHC), qRT-PCR	31956957
MIRT028618	hsa-miR-30a-5p	Immunohistochemistry (IHC), RNA-seq, qRT-PCR	31506771
MIRT733828	hsa-miR-31-3p	qRT-PCR	33828198
MIRT733829	hsa-miR-106a-3p	qRT-PCR	33828198
MIRT054635	hsa-miR-23b-3p	Western blotting, qRT-PCR	33713529
MIRT734820	hsa-miR-204-3p	Western blotting, Microarray	33505617
MIRT734864	hsa-miR-25-3p	Western blotting, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR, Flow cytometry	33425934
MIRT735608	hsa-miR-20a-3p	Western blotting, Flow cytometry	32097913
MIRT736610	hsa-miR-137	Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR, Flow cytometry, ELISA	32025213
MIRT731938	hsa-miR-320a	Luciferase reporter assay, Western blotting, qRT-PCR	33505960
MIRT755469	hsa-miR-30a-3p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, Immunoprecipitaion (IP), In situ hybridization	35093061
MIRT219171	hsa-miR-30c-5p	Luciferase reporter assay, Western blotting, qRT-PCR	37125614
MIRT006895	hsa-miR-204-5p	Luciferase reporter assay, Western blotting	37453970
MIRT755572	hsa-miR-129-1-3p	Western blotting, Immunofluorescence	35950473
MIRT755687	hsa-miR-26a-5p	Western blotting, qRT-PCR, Flow cytometry	35246197
MIRT007289	hsa-miR-338-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunofluorescence, Flow cytometry, ELISA	36572886
MIRT756355	hsa-let-7b-5p	Luciferase reporter assay, Western blotting, qRT-PCR	36611957
MIRT1322912	hsa-miR-1184	CLIP-seq
MIRT1322913	hsa-miR-124	CLIP-seq
MIRT1322914	hsa-miR-1244	CLIP-seq
MIRT1322915	hsa-miR-1253	CLIP-seq
MIRT1322916	hsa-miR-1257	CLIP-seq
MIRT1322917	hsa-miR-1270	CLIP-seq
MIRT1322918	hsa-miR-1273e	CLIP-seq
MIRT1322919	hsa-miR-1273f	CLIP-seq
MIRT1322920	hsa-miR-1276	CLIP-seq
MIRT1322921	hsa-miR-1278	CLIP-seq
MIRT1322922	hsa-miR-1303	CLIP-seq
MIRT1322923	hsa-miR-1305	CLIP-seq
MIRT1322924	hsa-miR-1915	CLIP-seq
MIRT1322925	hsa-miR-199a-3p	CLIP-seq
MIRT1322926	hsa-miR-199b-3p	CLIP-seq
MIRT1322927	hsa-miR-203	CLIP-seq
MIRT1322928	hsa-miR-217	CLIP-seq
MIRT1322929	hsa-miR-2909	CLIP-seq
MIRT1322930	hsa-miR-302a	CLIP-seq
MIRT1322931	hsa-miR-302b	CLIP-seq
MIRT1322932	hsa-miR-302c	CLIP-seq
MIRT1322933	hsa-miR-302d	CLIP-seq
MIRT1322934	hsa-miR-302e	CLIP-seq
MIRT1322935	hsa-miR-30a	CLIP-seq
MIRT1322936	hsa-miR-30b	CLIP-seq
MIRT1322937	hsa-miR-30c	CLIP-seq
MIRT1322938	hsa-miR-30d	CLIP-seq
MIRT1322939	hsa-miR-30e	CLIP-seq
MIRT1322940	hsa-miR-31	CLIP-seq
MIRT1322941	hsa-miR-3128	CLIP-seq
MIRT1322942	hsa-miR-3129-5p	CLIP-seq
MIRT1322943	hsa-miR-3138	CLIP-seq
MIRT1322944	hsa-miR-3143	CLIP-seq
MIRT1322945	hsa-miR-3154	CLIP-seq
MIRT1322946	hsa-miR-3162-5p	CLIP-seq
MIRT1322947	hsa-miR-3167	CLIP-seq
MIRT1322948	hsa-miR-3170	CLIP-seq
MIRT1322949	hsa-miR-3174	CLIP-seq
MIRT1322950	hsa-miR-3185	CLIP-seq
MIRT1322951	hsa-miR-331-3p	CLIP-seq
MIRT1322952	hsa-miR-3692	CLIP-seq
MIRT1322953	hsa-miR-3714	CLIP-seq
MIRT1322954	hsa-miR-372	CLIP-seq
MIRT1322955	hsa-miR-373	CLIP-seq
MIRT1322956	hsa-miR-3910	CLIP-seq
MIRT1322957	hsa-miR-3911	CLIP-seq
MIRT1322958	hsa-miR-3919	CLIP-seq
MIRT1322959	hsa-miR-3925-5p	CLIP-seq
MIRT1322960	hsa-miR-3940-5p	CLIP-seq
MIRT1322961	hsa-miR-3973	CLIP-seq
MIRT1322962	hsa-miR-421	CLIP-seq
MIRT1322963	hsa-miR-4311	CLIP-seq
MIRT1322964	hsa-miR-4314	CLIP-seq
MIRT1322965	hsa-miR-4330	CLIP-seq
MIRT1322966	hsa-miR-4418	CLIP-seq
MIRT1322967	hsa-miR-4446-5p	CLIP-seq
MIRT1322968	hsa-miR-4452	CLIP-seq
MIRT1322969	hsa-miR-4507	CLIP-seq
MIRT1322970	hsa-miR-4514	CLIP-seq
MIRT1322971	hsa-miR-451b	CLIP-seq
MIRT1322972	hsa-miR-4635	CLIP-seq
MIRT1322973	hsa-miR-4645-5p	CLIP-seq
MIRT1322974	hsa-miR-4668-3p	CLIP-seq
MIRT1322975	hsa-miR-4673	CLIP-seq
MIRT1322976	hsa-miR-4683	CLIP-seq
MIRT1322977	hsa-miR-4691-3p	CLIP-seq
MIRT1322978	hsa-miR-4692	CLIP-seq
MIRT1322979	hsa-miR-4719	CLIP-seq
MIRT1322980	hsa-miR-4720-5p	CLIP-seq
MIRT1322981	hsa-miR-4726-3p	CLIP-seq
MIRT1322982	hsa-miR-4763-5p	CLIP-seq
MIRT1322983	hsa-miR-4765	CLIP-seq
MIRT1322984	hsa-miR-4766-3p	CLIP-seq
MIRT1322985	hsa-miR-4777-3p	CLIP-seq
MIRT1322986	hsa-miR-4796-3p	CLIP-seq
MIRT1322987	hsa-miR-4799-3p	CLIP-seq
MIRT1322988	hsa-miR-4799-5p	CLIP-seq
MIRT1322989	hsa-miR-4800-5p	CLIP-seq
MIRT1322990	hsa-miR-4802-3p	CLIP-seq
MIRT1322991	hsa-miR-488	CLIP-seq
MIRT1322992	hsa-miR-506	CLIP-seq
MIRT1322993	hsa-miR-509-3-5p	CLIP-seq
MIRT1322994	hsa-miR-509-5p	CLIP-seq
MIRT1322995	hsa-miR-520a-3p	CLIP-seq
MIRT1322996	hsa-miR-520b	CLIP-seq
MIRT1322997	hsa-miR-520c-3p	CLIP-seq
MIRT1322998	hsa-miR-520d-3p	CLIP-seq
MIRT1322999	hsa-miR-520e	CLIP-seq
MIRT1323000	hsa-miR-520f	CLIP-seq
MIRT1323001	hsa-miR-520g	CLIP-seq
MIRT1323002	hsa-miR-520h	CLIP-seq
MIRT1323003	hsa-miR-543	CLIP-seq
MIRT1323004	hsa-miR-548c-3p	CLIP-seq
MIRT1323005	hsa-miR-548k	CLIP-seq
MIRT1323006	hsa-miR-548t	CLIP-seq
MIRT1323007	hsa-miR-561	CLIP-seq
MIRT1323008	hsa-miR-583	CLIP-seq
MIRT1323009	hsa-miR-591	CLIP-seq
MIRT1323010	hsa-miR-607	CLIP-seq
MIRT1323011	hsa-miR-620	CLIP-seq
MIRT1323012	hsa-miR-636	CLIP-seq
MIRT1323013	hsa-miR-659	CLIP-seq
MIRT1323014	hsa-miR-760	CLIP-seq
MIRT1323015	hsa-miR-767-3p	CLIP-seq
MIRT1323016	hsa-miR-802	CLIP-seq
MIRT1323017	hsa-miR-876-5p	CLIP-seq
MIRT1323018	hsa-miR-940	CLIP-seq
MIRT1323019	hsa-miR-942	CLIP-seq
MIRT2095839	hsa-miR-1237	CLIP-seq
MIRT2095840	hsa-miR-1251	CLIP-seq
MIRT1322917	hsa-miR-1270	CLIP-seq
MIRT1322919	hsa-miR-1273f	CLIP-seq
MIRT1322927	hsa-miR-203	CLIP-seq
MIRT2095841	hsa-miR-3137	CLIP-seq
MIRT2095842	hsa-miR-3148	CLIP-seq
MIRT2095843	hsa-miR-329	CLIP-seq
MIRT2095844	hsa-miR-362-3p	CLIP-seq
MIRT2095845	hsa-miR-3686	CLIP-seq
MIRT2095846	hsa-miR-3935	CLIP-seq
MIRT2095847	hsa-miR-3941	CLIP-seq
MIRT2095848	hsa-miR-432	CLIP-seq
MIRT1322968	hsa-miR-4452	CLIP-seq
MIRT2095849	hsa-miR-4531	CLIP-seq
MIRT2095850	hsa-miR-4652-3p	CLIP-seq
MIRT2095851	hsa-miR-4670-3p	CLIP-seq
MIRT1322976	hsa-miR-4683	CLIP-seq
MIRT2095852	hsa-miR-4703-3p	CLIP-seq
MIRT2095853	hsa-miR-4704-5p	CLIP-seq
MIRT2095854	hsa-miR-4760-3p	CLIP-seq
MIRT2095855	hsa-miR-485-3p	CLIP-seq
MIRT2095856	hsa-miR-520d-5p	CLIP-seq
MIRT2095857	hsa-miR-524-5p	CLIP-seq
MIRT2095858	hsa-miR-578	CLIP-seq
MIRT2095859	hsa-miR-603	CLIP-seq
MIRT1323011	hsa-miR-620	CLIP-seq
MIRT1322924	hsa-miR-1915	CLIP-seq
MIRT1322944	hsa-miR-3143	CLIP-seq
MIRT1322970	hsa-miR-4514	CLIP-seq
MIRT1322973	hsa-miR-4645-5p	CLIP-seq
MIRT1322975	hsa-miR-4673	CLIP-seq
MIRT1322978	hsa-miR-4692	CLIP-seq
MIRT1322981	hsa-miR-4726-3p	CLIP-seq
MIRT1323003	hsa-miR-543	CLIP-seq
MIRT1323018	hsa-miR-940	CLIP-seq
MIRT2393959	hsa-miR-1179	CLIP-seq
MIRT2095839	hsa-miR-1237	CLIP-seq
MIRT2393960	hsa-miR-216b	CLIP-seq
MIRT2393961	hsa-miR-4279	CLIP-seq
MIRT2393962	hsa-miR-4287	CLIP-seq
MIRT2393963	hsa-miR-4685-3p	CLIP-seq
MIRT2393964	hsa-miR-4762-5p	CLIP-seq
MIRT2616185	hsa-miR-1238	CLIP-seq
MIRT1322913	hsa-miR-124	CLIP-seq
MIRT2095840	hsa-miR-1251	CLIP-seq
MIRT2616186	hsa-miR-1285	CLIP-seq
MIRT2616187	hsa-miR-1291	CLIP-seq
MIRT2616188	hsa-miR-136	CLIP-seq
MIRT2616189	hsa-miR-204	CLIP-seq
MIRT2616190	hsa-miR-205	CLIP-seq
MIRT2616191	hsa-miR-211	CLIP-seq
MIRT2616192	hsa-miR-2114	CLIP-seq
MIRT2616193	hsa-miR-218	CLIP-seq
MIRT2616194	hsa-miR-3064-3p	CLIP-seq
MIRT1322940	hsa-miR-31	CLIP-seq
MIRT2616195	hsa-miR-3124-3p	CLIP-seq
MIRT1322941	hsa-miR-3128	CLIP-seq
MIRT2095842	hsa-miR-3148	CLIP-seq
MIRT2616196	hsa-miR-3157-3p	CLIP-seq
MIRT1322948	hsa-miR-3170	CLIP-seq
MIRT2616197	hsa-miR-3187-5p	CLIP-seq
MIRT2616198	hsa-miR-3189-3p	CLIP-seq
MIRT2616199	hsa-miR-325	CLIP-seq
MIRT2616200	hsa-miR-328	CLIP-seq
MIRT2095843	hsa-miR-329	CLIP-seq
MIRT1322951	hsa-miR-331-3p	CLIP-seq
MIRT2616201	hsa-miR-338-5p	CLIP-seq
MIRT2095844	hsa-miR-362-3p	CLIP-seq
MIRT2616202	hsa-miR-3669	CLIP-seq
MIRT2616203	hsa-miR-3688-3p	CLIP-seq
MIRT1322953	hsa-miR-3714	CLIP-seq
MIRT2616204	hsa-miR-378g	CLIP-seq
MIRT2616205	hsa-miR-3908	CLIP-seq
MIRT1322956	hsa-miR-3910	CLIP-seq
MIRT2616206	hsa-miR-3923	CLIP-seq
MIRT2095847	hsa-miR-3941	CLIP-seq
MIRT2616207	hsa-miR-3942-5p	CLIP-seq
MIRT2616208	hsa-miR-3978	CLIP-seq
MIRT2616209	hsa-miR-411	CLIP-seq
MIRT2616210	hsa-miR-4290	CLIP-seq
MIRT1322964	hsa-miR-4314	CLIP-seq
MIRT2616211	hsa-miR-4422	CLIP-seq
MIRT2616212	hsa-miR-4486	CLIP-seq
MIRT2616213	hsa-miR-4517	CLIP-seq
MIRT2616214	hsa-miR-4520a-3p	CLIP-seq
MIRT2616215	hsa-miR-455-5p	CLIP-seq
MIRT2616216	hsa-miR-4640-5p	CLIP-seq
MIRT2616217	hsa-miR-4667-3p	CLIP-seq
MIRT2616218	hsa-miR-4694-3p	CLIP-seq
MIRT2616219	hsa-miR-4703-5p	CLIP-seq
MIRT2095853	hsa-miR-4704-5p	CLIP-seq
MIRT1322979	hsa-miR-4719	CLIP-seq
MIRT1322980	hsa-miR-4720-5p	CLIP-seq
MIRT2616220	hsa-miR-4726-5p	CLIP-seq
MIRT2095854	hsa-miR-4760-3p	CLIP-seq
MIRT1322984	hsa-miR-4766-3p	CLIP-seq
MIRT2616221	hsa-miR-4789-3p	CLIP-seq
MIRT2616222	hsa-miR-4790-3p	CLIP-seq
MIRT1322987	hsa-miR-4799-3p	CLIP-seq
MIRT2095855	hsa-miR-485-3p	CLIP-seq
MIRT1322991	hsa-miR-488	CLIP-seq
MIRT2616223	hsa-miR-494	CLIP-seq
MIRT2616224	hsa-miR-495	CLIP-seq
MIRT2616225	hsa-miR-499-3p	CLIP-seq
MIRT2616226	hsa-miR-499a-3p	CLIP-seq
MIRT1322992	hsa-miR-506	CLIP-seq
MIRT2616227	hsa-miR-511	CLIP-seq
MIRT2095856	hsa-miR-520d-5p	CLIP-seq
MIRT2616228	hsa-miR-522	CLIP-seq
MIRT2095857	hsa-miR-524-5p	CLIP-seq
MIRT2616229	hsa-miR-590-3p	CLIP-seq
MIRT2095859	hsa-miR-603	CLIP-seq
MIRT2616230	hsa-miR-612	CLIP-seq
MIRT2616231	hsa-miR-635	CLIP-seq
MIRT1323012	hsa-miR-636	CLIP-seq
MIRT1323014	hsa-miR-760	CLIP-seq
MIRT1323015	hsa-miR-767-3p	CLIP-seq
MIRT2616232	hsa-miR-874	CLIP-seq
MIRT2616233	hsa-miR-889	CLIP-seq
MIRT2616193	hsa-miR-218	CLIP-seq
MIRT2095855	hsa-miR-485-3p	CLIP-seq
MIRT1323012	hsa-miR-636	CLIP-seq
MIRT1322913	hsa-miR-124	CLIP-seq
MIRT1322940	hsa-miR-31	CLIP-seq
MIRT1322941	hsa-miR-3128	CLIP-seq
MIRT2095842	hsa-miR-3148	CLIP-seq
MIRT1322948	hsa-miR-3170	CLIP-seq
MIRT1322951	hsa-miR-331-3p	CLIP-seq
MIRT2616201	hsa-miR-338-5p	CLIP-seq
MIRT2616203	hsa-miR-3688-3p	CLIP-seq
MIRT1322953	hsa-miR-3714	CLIP-seq
MIRT2616205	hsa-miR-3908	CLIP-seq
MIRT1322956	hsa-miR-3910	CLIP-seq
MIRT2616207	hsa-miR-3942-5p	CLIP-seq
MIRT2616208	hsa-miR-3978	CLIP-seq
MIRT2616215	hsa-miR-455-5p	CLIP-seq
MIRT2616217	hsa-miR-4667-3p	CLIP-seq
MIRT2616218	hsa-miR-4694-3p	CLIP-seq
MIRT2616219	hsa-miR-4703-5p	CLIP-seq
MIRT1322980	hsa-miR-4720-5p	CLIP-seq
MIRT1322984	hsa-miR-4766-3p	CLIP-seq
MIRT1322987	hsa-miR-4799-3p	CLIP-seq
MIRT1322991	hsa-miR-488	CLIP-seq
MIRT1322992	hsa-miR-506	CLIP-seq
MIRT2616231	hsa-miR-635	CLIP-seq
MIRT1323014	hsa-miR-760	CLIP-seq
MIRT1323015	hsa-miR-767-3p	CLIP-seq

Transcription factors

Show/Hide all(10)

Transcription factor	Regulation	Reference
CBFB	Unknown	24648201
ESR1	Unknown	11604227
HDAC4	Repression	19509297
JUN	Unknown	11604227
PITX1	Repression	21425961
TRPS1	Repression	16140555
TWIST1	Repression	21503964;21931630
TWIST1	Unknown	12270142
TWIST2	Repression	21931630
TWIST2	Unknown	12270142

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001503	Process	Ossification	IBA	21873635
GO:0001503	Process	Ossification	TAS	12217689
GO:0001649	Process	Osteoblast differentiation	IEP	20128911
GO:0001649	Process	Osteoblast differentiation	TAS	12217689
GO:0002062	Process	Chondrocyte differentiation	IBA	21873635
GO:0003700	Function	DNA-binding transcription factor activity	NAS	9182765
GO:0005515	Function	Protein binding	IPI	11965546, 12145306, 16299379, 17251981, 17377532, 20160071, 22065775, 24113655, 25331851
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	28505335, 28738062
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0030097	Process	Hemopoiesis	IBA	21873635
GO:0030182	Process	Neuron differentiation	IBA	21873635
GO:0030509	Process	BMP signaling pathway	ISS
GO:0045595	Process	Regulation of cell differentiation	IBA	21873635
GO:0045669	Process	Positive regulation of osteoblast differentiation	IMP	28703881
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	11965546
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	11965546
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	28505335, 28703881, 28738062
GO:0071773	Process	Cellular response to BMP stimulus	ISS
GO:1901522	Process	Positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600211	10472	ENSG00000124813

Protein

UniProt ID

Q13950

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

Protein function

Transcription factor involved in osteoblastic differentiation and skeletal morphogenesis (PubMed:28505335, PubMed:28703881, PubMed:28738062). Essential for the maturation of osteoblasts and both intramembranous and endochondral ossification. CBF

PDB

6VG8 , 6VGD , 6VGE , 6VGG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00853	Runt	102 → 231	Runt domain	Domain
PF08504	RunxI	430 → 521	Runx inhibition domain	Family

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in osteoblasts.

Sequence

MASNSLFSTVTPCQQNFFWDPSTSRRFSPPSSSLQPGKMSDVSPVVAAQQQQQQQQQQQQ
QQQQQQQQQQQEAAAAAAAAAAAAAAAAAVPRLRPPHDNRTMVEIIADHPAELVRTDSPN
FLCSVLPSHWRCNKTLPVAFKVVALGEVPDGTVVTVMAGNDENYSAELRNASAVMKNQVA
RFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKVTVDGPREPRRHRQKLDDSKPS
LFSDRLSDLGRIPHPSMRVGVPPQNPRPSLNSAPSPFNPQGQSQITDPRQAQSSPPWSYD
QSYPSYLSQMTSPSIHSTTPLSSTRGTGLPAITDVPRRISDDDTATSDFCLWPSTLSKKS
QAGASELGPFSDPRQFPSISSLTESRFSNPRMHYPATFTYTPPVTSGMSLGMSATTHYHT
YLPPPYPGSSQSQSGPFQTSSTPYLYYGTSSGSYQFPMVPGGDRSPSRMLPPCTTTSNGS
TLLNPNLPNQNDGVDADGSHSSSPTVLNSSGRMDESVWRPY

Sequence length

521

Interactions

View interactions

	KEGG		Reactome
	Parathyroid hormone synthesis, secretion and action Transcriptional misregulation in cancer		Transcriptional regulation by RUNX2 RUNX1 regulates transcription of genes involved in differentiation of myeloid cells Regulation of RUNX2 expression and activity RUNX2 regulates osteoblast differentiation RUNX2 regulates bone development RUNX2 regulates genes involved in cell migration RUNX2 regulates genes involved in differentiation of myeloid cells

Show/Hide Causal Diseases (11)

Disease term	Disease name	dbSNP ID	References
Causal
Arthritis	Degenerative polyarthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	20008919
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Cleidocranial dysplasia	Cleidocranial Dysplasia	rs606231174	17022082, 16270353, 26380986, 20648631, 10521292, 19744171, 10689183, 12196916, 28703881, 10545612, 14688224, 10980549, 9182765, 12081718, 11857736 View all (7 more)
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350	23348268
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Pyle metaphyseal dysplasia	Pyle metaphyseal dysplasia	rs879255603, rs755007671, rs879253778
Rheumatoid arthritis	Rheumatoid Arthritis	rs587776843	20008919
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098 View all (1 more)

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Evidence	Source
Unknown
Metaphyseal dysplasia-maxillary hypoplasia-brachydactly syndrome	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome		ClinVar
Otitis media	Chronic otitis media		ClinVar
Cleidocranial Dysplasia	cleidocranial dysplasia 1		GenCC
Progressive Supranuclear Palsy	Progressive Supranuclear Palsy		GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.	GWAS, CBGDA

Show/Hide Text Mining Associations (191)

Disease Name	Relationship Type	References
Associations from Text Mining
Acidemia isovaleric	Associate	20723612
Acidosis	Stimulate	17183249
Acro Osteolysis	Associate	15665096, 25808168
Acro Osteolysis	Inhibit	15933061
Adenocarcinoma Follicular	Associate	22641097
Adenocarcinoma of Lung	Associate	31109257
Adenoma	Associate	22641097
Adenomyosis	Associate	38195505
Alcohol Related Disorders	Associate	29891876
Alzheimer Disease	Associate	36764297
Anemia Aplastic	Associate	25738174
Ankylosis	Associate	29498969
Anodontia	Associate	20683987
Anophthalmia with pulmonary hypoplasia	Associate	39358545
Aortic Diseases	Associate	24703637
Aortic Valve Calcification of	Associate	24703637, 35109802, 38365109
Aortic Valve Disease	Associate	23968872
Aortic Valve Stenosis	Associate	23452891
Arthritis Rheumatoid	Associate	30820026
Atelosteogenesis type 2	Associate	35674542
Bicuspid Aortic Valve Disease	Associate	36908813
Bone Diseases	Associate	11351351, 15933061, 17900349, 22740707, 25808168, 29498969, 32075713
Bone Diseases Developmental	Associate	20339249
Bone Diseases Metabolic	Associate	12162506, 24590987
Bone Neoplasms	Associate	22766796, 22949168
Bradycardia	Associate	34004232
Breast Neoplasms	Associate	15665096, 19632824, 19690135, 20946121, 21029421, 22147940, 22151997, 22158627, 22189971, 24479521, 25266482, 25380580, 25808624, 27253998, 27806311 View all (11 more)
Breast Neoplasms	Stimulate	26597806, 35534547
Bronchiolitis Obliterans Syndrome	Associate	33758171
Calcinosis	Associate	12455237, 20723612, 20845893, 22874762, 23416929, 27353274, 28192277, 31043660, 32066043, 32188274, 32587575, 33545156, 39510246
Calcinosis	Inhibit	32016954
Calcinosis Cutis	Associate	20863401
Calcinosis Cutis	Stimulate	22151997
Carcinogenesis	Associate	22158627, 35534547
Carcinoma	Associate	22641097
Carcinoma Ductal Breast	Associate	26597806
Carcinoma Hepatocellular	Associate	27336713, 28264434, 33566427
Carcinoma Non Small Cell Lung	Associate	23471668, 26282001, 31109257
Carcinoma Ovarian Epithelial	Associate	23093845, 24124450, 24613919
Carcinoma Pancreatic Ductal	Associate	17876328
Carcinoma Papillary	Stimulate	22641097
Carcinoma Renal Cell	Associate	27173324, 36200301, 36328501, 37525479
Carcinoma Squamous Cell	Associate	33095746
Cardiomyopathy Hypertrophic	Associate	20723612, 22796508, 27428952
Cartilage Diseases	Associate	12455237, 19723327, 25424126, 29374435, 31981738
Chikungunya Fever	Inhibit	32493723
Cholangiocarcinoma	Associate	25556446
Chondroma	Associate	12455237, 17387386
Chondrosarcoma	Associate	17387386, 19509297, 26596830
Chromosome Aberrations	Associate	25738174
Chromosome Disorders	Associate	21890680
Clavicle Pseudarthrosis Of Congenital	Associate	12196916
Cleft Palate	Associate	18357615, 22241686, 31262291, 36901988
Cleidocranial Dysplasia	Associate	10521292, 12162506, 12196916, 14689542, 18166138, 18203189, 19123713, 19515746, 20014132, 20082269, 20339249, 21274329, 21890680, 23220435, 23289840 View all (32 more)
Cleidocranial Dysplasia	Inhibit	24827498
Cleidorhizomelic syndrome	Associate	36241386
Colles' Fracture	Associate	12162506
Colonic Neoplasms	Associate	21088106, 31059049
Colorectal Neoplasms	Associate	21088106, 29471888, 29552759, 31097689
Congenital contractural arachnodactyly	Associate	25556446
Constriction Pathologic	Associate	23452891
Coronary Aneurysm	Stimulate	35708762
Cortical Defects Wormian Bones and Dentinogenesis Imperfecta	Associate	34946295
Coxa Magna	Associate	31831773, 36232582
Craniofacial Dysostosis	Associate	35331937
Craniosynostoses	Associate	20683987, 32360898, 33656806, 35331937
Dentin dysplasia type 1	Associate	32737282
Diabetes Mellitus	Stimulate	27353274
Diabetes Mellitus	Associate	37728820
Diabetes Mellitus Type 2	Associate	22740707, 32596370, 38096208
Diabetes Mellitus Type 2	Inhibit	27582133, 32777114
Diabetic Retinopathy	Associate	31830266, 36745438
Down Syndrome	Associate	15716609
Drug Related Side Effects and Adverse Reactions	Stimulate	37269830
Dwarfism Pituitary	Associate	31948427
Femoral Neck Fractures	Stimulate	30324718
Femur Head Necrosis	Stimulate	29208853
Fibrocartilaginous embolism	Associate	20723612
Fibroma Ossifying	Associate	17334331
Fibrous Dysplasia of Bone	Associate	17334331
Fluorosis Dental	Associate	26339601
Fractures Bone	Associate	10521292, 12162506
Fractures Bone	Stimulate	27982725
Fractures Open	Associate	12196916
Gastroesophageal Reflux	Associate	33850461
GATA2 Deficiency	Associate	37032358
Giant Cell Tumor of Bone	Associate	31471919, 32154660
Glioblastoma	Associate	36762036, 37357610
Glioma	Associate	30070328, 40702072
Granulosa cell tumor of the ovary	Associate	21625386, 23071632, 27779699
Hamartoma	Associate	21909471
Head and Neck Neoplasms	Associate	34946295
Hearing Loss Unilateral	Associate	35674542
Heart Valve Diseases	Associate	29227539, 36908813
Hematuria Benign Familial	Stimulate	31097689
Hemolytic Uremic Syndrome	Associate	39510246
Hereditary Breast and Ovarian Cancer Syndrome	Associate	25609707
Hereditary renal agenesis	Associate	34946295
Hyperglycemia	Inhibit	19383984, 25283348
Hyperglycemic Hyperosmolar Nonketotic Coma	Inhibit	19383984
Hyperostosis Diffuse Idiopathic Skeletal	Associate	37156767
Hypertrophy	Associate	25279550, 26123554, 31409892, 36232582, 36594090
Hypophosphatasia	Associate	20014132
Hypoxia Brain	Associate	26283875
Immunologic Deficiency Syndromes	Stimulate	33545156
Inflammation	Associate	28300755
Inflammation	Inhibit	28560407, 37602966
Intervertebral Disc Degeneration	Associate	36972403
Juvenile osteoporosis	Inhibit	21308775
Keloid	Associate	27943413
Leukemia	Associate	22825467
Lung Neoplasms	Associate	23618908, 26282001, 28950255, 33455109
Lymphatic Metastasis	Associate	23471668, 33896817
Lymphoma Mantle Cell	Associate	31650163
Malocclusion	Associate	24698832
Maxillary Diseases	Associate	34946295
Medullary Sponge Kidney	Associate	25615853
Melanoma	Associate	24657655, 27102439, 31142788, 32204402
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly	Associate	23290074, 29891876
Mouth Diseases	Associate	17876328
Multiple Myeloma	Inhibit	15933061, 31784427
Multiple Myeloma	Associate	27559096
Myelodysplastic Syndromes	Inhibit	24443267
Nail Diseases	Associate	18166138
Neointima	Associate	15933061
Neoplasm Metastasis	Associate	19690135, 20946121, 21029421, 21505104, 21649908, 21913213, 22151997, 22187159, 22641097, 22821892, 22949168, 23364535, 25808168, 27253998, 28950255 View all (5 more)
Neoplasm Metastasis	Stimulate	31097689, 31331331, 32154660, 33896817
Neoplasms	Inhibit	16753023
Neoplasms	Associate	18462018, 19632824, 19690135, 20082326, 20465837, 20946121, 21029421, 21088106, 21649908, 21913213, 22158627, 22189971, 22361633, 22949168, 23093845 View all (29 more)
Neoplasms	Stimulate	20863401, 24124450, 35534547
Neoplasms Basal Cell	Associate	21649908
Neoplasms Bone Tissue	Associate	31831773
Odontogenic Tumors	Associate	28512636
Osseous Heteroplasia Progressive	Associate	11092389
Ossification of Posterior Longitudinal Ligament	Associate	17702747, 20721706, 27704615, 32350355
Ossification of the posterior longitudinal ligament of the spine	Stimulate	18319563
Osteoarthritis	Associate	20723612, 20955562, 27072078, 27428952, 28798419, 29095952, 29658578, 29728632, 30010910, 30903650, 33055079, 34078001, 34165827, 34769441, 36915153, 37652257, 37918800 View all (2 more)
Osteoarthritis	Stimulate	23748413, 26123554, 33629290
Osteoarthritis	Inhibit	27999816
Osteoblastoma	Associate	21078438, 32108038
Osteogenesis Imperfecta	Associate	10856244, 29069035, 31486477, 32141579, 33410269
Osteolysis	Associate	15665096, 22187159, 24373848
Osteoma Osteoid	Associate	21078438
Osteoporosis	Associate	10521292, 12162506, 17000892, 21845073, 22189971, 23028809, 23638215, 26719974, 26930606, 31599402, 31858576, 32154660, 33993186, 34899595, 38167042
Osteoporosis	Inhibit	19017541, 19877060, 30324718, 30338786, 30779060, 31599401, 32016954
Osteoporotic Fractures	Associate	12162506, 21674037, 23638215, 24578613
Osteoporotic Fractures	Inhibit	30324718, 35941659
Osteosarcoma	Associate	12393937, 18223689, 20465837, 21029421, 22158627, 22949168, 23144859, 23618908, 24293382, 24330824, 25418192, 30943004, 31669178, 35340229, 39190380, 39768988, 40332124 View all (2 more)
Osteosarcoma	Stimulate	18931939, 24983940
Ovarian Diseases	Associate	24124450
Ovarian Neoplasms	Associate	24613919
Pancreatic Neoplasms	Associate	17876328, 27713122, 28671946, 34606473, 38297362
Peri Implantitis	Inhibit	25406169
Periodontitis	Associate	27645561
Personality Disorders	Associate	29048677
Pituitary Neoplasms	Associate	19020999
Polycystic Ovary Syndrome	Associate	24279306
Prostatic Neoplasms	Associate	11351351, 20082326, 20863401, 21505104, 22187159, 22966907, 25808168, 34257854, 34689576, 36759880
Prostatic Neoplasms	Stimulate	36623397
Prostatitis	Associate	22966907, 25609707
Renal Insufficiency	Associate	38195505
Renal Insufficiency Chronic	Associate	32722241
Root Resorption	Associate	24827498
Salter Harris Fractures	Associate	36835608
Sarcoma	Associate	35401056
Scleroderma Diffuse	Associate	24812288
Scoliosis	Associate	10521292, 32448279
Seizures	Associate	20683987
Sick Sinus Syndrome	Associate	34004232
Smooth Muscle Tumor	Associate	24586847, 37125614
Smooth Muscle Tumor	Stimulate	36281932
Spondylitis Ankylosing	Associate	33410269, 37798786, 39692554
Squamous Cell Carcinoma of Head and Neck	Associate	33657265
Stomach Neoplasms	Associate	33896817
Supranuclear Palsy Progressive	Associate	35842134, 39251599
Tertiary Lymphoid Structures	Associate	18319563, 20721706
Thyroid Cancer Papillary	Associate	22821892, 31043660
Thyroid Neoplasms	Associate	22641097, 22821892, 24069422, 27253998, 31395086, 31624086, 39271656
Tooth Abnormalities	Associate	25738174
Tooth Eruption Ectopic	Associate	19419450, 27068678
Tooth Resorption	Associate	21845073
Tooth Supernumerary	Associate	10521292, 23220435, 32075713, 34946295
Triple Negative Breast Neoplasms	Associate	31865591, 38219710
Trochlear Nerve Diseases	Associate	35674542
Tuberculosis	Associate	33097805
Urinary Bladder Neoplasms	Associate	29048677
Uterine Cervical Neoplasms	Associate	35805994
Uterine Neoplasms	Associate	36791912
Vascular Calcification	Stimulate	22796540, 26418500
Vascular Calcification	Associate	23316327, 32722241, 37125614, 37728820
Vascular Ring	Associate	20721706, 27208800

RUNX2 (RUNX family transcription factor 2)