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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6926
Gene name	T-box transcription factor 3
Gene symbol	TBX3
Synonyms (NCBI Gene)	TBX3-ISOUMSXHL
Chromosome	12
Chromosome location	12q24.21
Summary	This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This protein is a transcriptional repr

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894376	T>A	Pathogenic	Coding sequence variant, stop gained
rs369999628	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370307666	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397514484	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060505020	G>A	Pathogenic	Stop gained, coding sequence variant
rs1565858163	->GC	Pathogenic	Frameshift variant, coding sequence variant

261

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022052	hsa-miR-128-3p	Microarray	17612493
MIRT030639	hsa-miR-22-3p	Sequencing	20371350
MIRT036446	hsa-miR-1226-3p	CLASH	23622248
MIRT438287	hsa-miR-137	Luciferase reporter assay	24084696
MIRT438287	hsa-miR-137	Luciferase reporter assay	24084696
MIRT438287	hsa-miR-137	Luciferase reporter assay	24084696
MIRT438287	hsa-miR-137	Luciferase reporter assay	24084696
MIRT1415237	hsa-miR-106a	CLIP-seq
MIRT1415238	hsa-miR-106b	CLIP-seq
MIRT1415239	hsa-miR-1179	CLIP-seq
MIRT1415240	hsa-miR-1279	CLIP-seq
MIRT1415241	hsa-miR-1304	CLIP-seq
MIRT1415242	hsa-miR-17	CLIP-seq
MIRT1415243	hsa-miR-1908	CLIP-seq
MIRT1415244	hsa-miR-20a	CLIP-seq
MIRT1415245	hsa-miR-20b	CLIP-seq
MIRT1415246	hsa-miR-299-5p	CLIP-seq
MIRT1415247	hsa-miR-3153	CLIP-seq
MIRT1415248	hsa-miR-3177-3p	CLIP-seq
MIRT1415249	hsa-miR-3545-3p	CLIP-seq
MIRT1415250	hsa-miR-3616-3p	CLIP-seq
MIRT1415251	hsa-miR-3654	CLIP-seq
MIRT1415252	hsa-miR-3660	CLIP-seq
MIRT1415253	hsa-miR-378	CLIP-seq
MIRT1415254	hsa-miR-378b	CLIP-seq
MIRT1415255	hsa-miR-378c	CLIP-seq
MIRT1415256	hsa-miR-378d	CLIP-seq
MIRT1415257	hsa-miR-378e	CLIP-seq
MIRT1415258	hsa-miR-378f	CLIP-seq
MIRT1415259	hsa-miR-378h	CLIP-seq
MIRT1415260	hsa-miR-378i	CLIP-seq
MIRT1415261	hsa-miR-422a	CLIP-seq
MIRT1415262	hsa-miR-4278	CLIP-seq
MIRT1415263	hsa-miR-4282	CLIP-seq
MIRT1415264	hsa-miR-4293	CLIP-seq
MIRT1415265	hsa-miR-4526	CLIP-seq
MIRT1415266	hsa-miR-4539	CLIP-seq
MIRT1415267	hsa-miR-4645-3p	CLIP-seq
MIRT1415268	hsa-miR-4668-5p	CLIP-seq
MIRT1415269	hsa-miR-4684-3p	CLIP-seq
MIRT1415270	hsa-miR-4699-3p	CLIP-seq
MIRT1415271	hsa-miR-4716-3p	CLIP-seq
MIRT1415272	hsa-miR-4721	CLIP-seq
MIRT1415273	hsa-miR-4775	CLIP-seq
MIRT1415274	hsa-miR-519a	CLIP-seq
MIRT1415275	hsa-miR-519b-3p	CLIP-seq
MIRT1415276	hsa-miR-519c-3p	CLIP-seq
MIRT1415277	hsa-miR-519d	CLIP-seq
MIRT1415278	hsa-miR-520g	CLIP-seq
MIRT1415279	hsa-miR-520h	CLIP-seq
MIRT1415280	hsa-miR-548c-3p	CLIP-seq
MIRT1415281	hsa-miR-561	CLIP-seq
MIRT1415282	hsa-miR-590-3p	CLIP-seq
MIRT1415283	hsa-miR-663	CLIP-seq
MIRT1415284	hsa-miR-93	CLIP-seq
MIRT2124618	hsa-miR-3065-3p	CLIP-seq
MIRT2124619	hsa-miR-3622a-3p	CLIP-seq
MIRT2124620	hsa-miR-3622b-3p	CLIP-seq
MIRT2124621	hsa-miR-4311	CLIP-seq
MIRT2124622	hsa-miR-4436b-5p	CLIP-seq
MIRT2124623	hsa-miR-4511	CLIP-seq
MIRT2124624	hsa-miR-320a	CLIP-seq
MIRT2124625	hsa-miR-320b	CLIP-seq
MIRT2124626	hsa-miR-320c	CLIP-seq
MIRT2124627	hsa-miR-320d	CLIP-seq
MIRT2124628	hsa-miR-4429	CLIP-seq
MIRT2346820	hsa-miR-1	CLIP-seq
MIRT1415237	hsa-miR-106a	CLIP-seq
MIRT1415238	hsa-miR-106b	CLIP-seq
MIRT1415239	hsa-miR-1179	CLIP-seq
MIRT2346821	hsa-miR-1193	CLIP-seq
MIRT2346822	hsa-miR-1225-3p	CLIP-seq
MIRT2346823	hsa-miR-1231	CLIP-seq
MIRT2346824	hsa-miR-1233	CLIP-seq
MIRT2346825	hsa-miR-1257	CLIP-seq
MIRT2346826	hsa-miR-1269	CLIP-seq
MIRT2346827	hsa-miR-1269b	CLIP-seq
MIRT1415240	hsa-miR-1279	CLIP-seq
MIRT2346828	hsa-miR-1286	CLIP-seq
MIRT2346829	hsa-miR-1288	CLIP-seq
MIRT1415241	hsa-miR-1304	CLIP-seq
MIRT2346830	hsa-miR-1323	CLIP-seq
MIRT2346831	hsa-miR-142-5p	CLIP-seq
MIRT2346832	hsa-miR-1470	CLIP-seq
MIRT1415242	hsa-miR-17	CLIP-seq
MIRT2346833	hsa-miR-187	CLIP-seq
MIRT1415243	hsa-miR-1908	CLIP-seq
MIRT2346834	hsa-miR-1913	CLIP-seq
MIRT2346835	hsa-miR-2052	CLIP-seq
MIRT1415244	hsa-miR-20a	CLIP-seq
MIRT1415245	hsa-miR-20b	CLIP-seq
MIRT2346836	hsa-miR-2114	CLIP-seq
MIRT2346837	hsa-miR-216a	CLIP-seq
MIRT2346838	hsa-miR-2392	CLIP-seq
MIRT2346839	hsa-miR-2682	CLIP-seq
MIRT1415246	hsa-miR-299-5p	CLIP-seq
MIRT2124618	hsa-miR-3065-3p	CLIP-seq
MIRT2346840	hsa-miR-3120-3p	CLIP-seq
MIRT2346841	hsa-miR-3130-3p	CLIP-seq
MIRT1415248	hsa-miR-3177-3p	CLIP-seq
MIRT2346842	hsa-miR-3192	CLIP-seq
MIRT2124624	hsa-miR-320a	CLIP-seq
MIRT2124625	hsa-miR-320b	CLIP-seq
MIRT2124626	hsa-miR-320c	CLIP-seq
MIRT2124627	hsa-miR-320d	CLIP-seq
MIRT2346843	hsa-miR-324-3p	CLIP-seq
MIRT2346844	hsa-miR-340	CLIP-seq
MIRT1415249	hsa-miR-3545-3p	CLIP-seq
MIRT2346845	hsa-miR-361-3p	CLIP-seq
MIRT2124619	hsa-miR-3622a-3p	CLIP-seq
MIRT2124620	hsa-miR-3622b-3p	CLIP-seq
MIRT1415251	hsa-miR-3654	CLIP-seq
MIRT1415252	hsa-miR-3660	CLIP-seq
MIRT2346846	hsa-miR-3667-3p	CLIP-seq
MIRT2346847	hsa-miR-3673	CLIP-seq
MIRT2346848	hsa-miR-3675-3p	CLIP-seq
MIRT2346849	hsa-miR-3692	CLIP-seq
MIRT1415253	hsa-miR-378	CLIP-seq
MIRT1415254	hsa-miR-378b	CLIP-seq
MIRT1415255	hsa-miR-378c	CLIP-seq
MIRT1415256	hsa-miR-378d	CLIP-seq
MIRT1415257	hsa-miR-378e	CLIP-seq
MIRT1415258	hsa-miR-378f	CLIP-seq
MIRT1415259	hsa-miR-378h	CLIP-seq
MIRT1415260	hsa-miR-378i	CLIP-seq
MIRT2346850	hsa-miR-3941	CLIP-seq
MIRT2346851	hsa-miR-3943	CLIP-seq
MIRT2346852	hsa-miR-409-3p	CLIP-seq
MIRT1415261	hsa-miR-422a	CLIP-seq
MIRT2346853	hsa-miR-4264	CLIP-seq
MIRT2346854	hsa-miR-4269	CLIP-seq
MIRT2346855	hsa-miR-4286	CLIP-seq
MIRT2346856	hsa-miR-4290	CLIP-seq
MIRT1415264	hsa-miR-4293	CLIP-seq
MIRT2346857	hsa-miR-4303	CLIP-seq
MIRT2346858	hsa-miR-4314	CLIP-seq
MIRT2124628	hsa-miR-4429	CLIP-seq
MIRT2124622	hsa-miR-4436b-5p	CLIP-seq
MIRT2346859	hsa-miR-4457	CLIP-seq
MIRT2346860	hsa-miR-4469	CLIP-seq
MIRT2346861	hsa-miR-449c	CLIP-seq
MIRT2346862	hsa-miR-4515	CLIP-seq
MIRT1415265	hsa-miR-4526	CLIP-seq
MIRT1415266	hsa-miR-4539	CLIP-seq
MIRT1415267	hsa-miR-4645-3p	CLIP-seq
MIRT2346863	hsa-miR-4646-5p	CLIP-seq
MIRT2346864	hsa-miR-466	CLIP-seq
MIRT2346865	hsa-miR-4667-3p	CLIP-seq
MIRT2346866	hsa-miR-4672	CLIP-seq
MIRT1415269	hsa-miR-4684-3p	CLIP-seq
MIRT2346867	hsa-miR-4696	CLIP-seq
MIRT1415270	hsa-miR-4699-3p	CLIP-seq
MIRT2346868	hsa-miR-4722-5p	CLIP-seq
MIRT2346869	hsa-miR-4740-5p	CLIP-seq
MIRT2346870	hsa-miR-4760-3p	CLIP-seq
MIRT2346871	hsa-miR-4762-3p	CLIP-seq
MIRT2346872	hsa-miR-4766-5p	CLIP-seq
MIRT1415273	hsa-miR-4775	CLIP-seq
MIRT2346873	hsa-miR-4781-3p	CLIP-seq
MIRT2346874	hsa-miR-4793-3p	CLIP-seq
MIRT2346875	hsa-miR-4797-3p	CLIP-seq
MIRT2346876	hsa-miR-483-3p	CLIP-seq
MIRT2346877	hsa-miR-499-3p	CLIP-seq
MIRT2346878	hsa-miR-499a-3p	CLIP-seq
MIRT2346879	hsa-miR-513b	CLIP-seq
MIRT1415274	hsa-miR-519a	CLIP-seq
MIRT1415275	hsa-miR-519b-3p	CLIP-seq
MIRT1415276	hsa-miR-519c-3p	CLIP-seq
MIRT1415277	hsa-miR-519d	CLIP-seq
MIRT1415278	hsa-miR-520g	CLIP-seq
MIRT1415279	hsa-miR-520h	CLIP-seq
MIRT2346880	hsa-miR-548o	CLIP-seq
MIRT1415281	hsa-miR-561	CLIP-seq
MIRT2346881	hsa-miR-570	CLIP-seq
MIRT2346882	hsa-miR-579	CLIP-seq
MIRT1415282	hsa-miR-590-3p	CLIP-seq
MIRT2346883	hsa-miR-595	CLIP-seq
MIRT2346884	hsa-miR-613	CLIP-seq
MIRT2346885	hsa-miR-617	CLIP-seq
MIRT2346886	hsa-miR-640	CLIP-seq
MIRT2346887	hsa-miR-642a	CLIP-seq
MIRT1415283	hsa-miR-663	CLIP-seq
MIRT2346888	hsa-miR-664	CLIP-seq
MIRT2346889	hsa-miR-760	CLIP-seq
MIRT2346890	hsa-miR-767-3p	CLIP-seq
MIRT2346891	hsa-miR-769-5p	CLIP-seq
MIRT1415284	hsa-miR-93	CLIP-seq
MIRT2346892	hsa-miR-935	CLIP-seq
MIRT2346893	hsa-miR-940	CLIP-seq
MIRT2346832	hsa-miR-1470	CLIP-seq
MIRT2346865	hsa-miR-4667-3p	CLIP-seq
MIRT1415239	hsa-miR-1179	CLIP-seq
MIRT1415240	hsa-miR-1279	CLIP-seq
MIRT1415241	hsa-miR-1304	CLIP-seq
MIRT2346840	hsa-miR-3120-3p	CLIP-seq
MIRT2433783	hsa-miR-3671	CLIP-seq
MIRT2346850	hsa-miR-3941	CLIP-seq
MIRT2433784	hsa-miR-4255	CLIP-seq
MIRT2346859	hsa-miR-4457	CLIP-seq
MIRT2433785	hsa-miR-4474-5p	CLIP-seq
MIRT2346864	hsa-miR-466	CLIP-seq
MIRT2346866	hsa-miR-4672	CLIP-seq
MIRT2433786	hsa-miR-4677-3p	CLIP-seq
MIRT2433787	hsa-miR-4679	CLIP-seq
MIRT1415270	hsa-miR-4699-3p	CLIP-seq
MIRT2346872	hsa-miR-4766-5p	CLIP-seq
MIRT2433788	hsa-miR-4768-5p	CLIP-seq
MIRT1415273	hsa-miR-4775	CLIP-seq
MIRT2433789	hsa-miR-4778-5p	CLIP-seq
MIRT2433790	hsa-miR-4795-3p	CLIP-seq
MIRT2346877	hsa-miR-499-3p	CLIP-seq
MIRT2346878	hsa-miR-499a-3p	CLIP-seq
MIRT2346879	hsa-miR-513b	CLIP-seq
MIRT1415281	hsa-miR-561	CLIP-seq
MIRT2346881	hsa-miR-570	CLIP-seq
MIRT1415282	hsa-miR-590-3p	CLIP-seq
MIRT2346883	hsa-miR-595	CLIP-seq
MIRT2433791	hsa-miR-633	CLIP-seq
MIRT2346889	hsa-miR-760	CLIP-seq
MIRT2442744	hsa-miR-203	CLIP-seq
MIRT2442745	hsa-miR-4276	CLIP-seq
MIRT1415263	hsa-miR-4282	CLIP-seq
MIRT2442746	hsa-miR-513a-3p	CLIP-seq
MIRT1415280	hsa-miR-548c-3p	CLIP-seq
MIRT2639543	hsa-miR-1224-5p	CLIP-seq
MIRT1415241	hsa-miR-1304	CLIP-seq
MIRT2639544	hsa-miR-199a-3p	CLIP-seq
MIRT2639545	hsa-miR-199b-3p	CLIP-seq
MIRT2346835	hsa-miR-2052	CLIP-seq
MIRT2639546	hsa-miR-3129-5p	CLIP-seq
MIRT2639547	hsa-miR-3915	CLIP-seq
MIRT2639548	hsa-miR-3919	CLIP-seq
MIRT2639549	hsa-miR-3928	CLIP-seq
MIRT2124622	hsa-miR-4436b-5p	CLIP-seq
MIRT2639550	hsa-miR-4689	CLIP-seq
MIRT2639551	hsa-miR-4709-5p	CLIP-seq
MIRT2639552	hsa-miR-4756-3p	CLIP-seq
MIRT2639553	hsa-miR-495	CLIP-seq
MIRT2639554	hsa-miR-548p	CLIP-seq
MIRT2639555	hsa-miR-549	CLIP-seq
MIRT2639543	hsa-miR-1224-5p	CLIP-seq
MIRT1415241	hsa-miR-1304	CLIP-seq
MIRT2639544	hsa-miR-199a-3p	CLIP-seq
MIRT2639545	hsa-miR-199b-3p	CLIP-seq
MIRT2346835	hsa-miR-2052	CLIP-seq
MIRT2639546	hsa-miR-3129-5p	CLIP-seq
MIRT2639547	hsa-miR-3915	CLIP-seq
MIRT2639548	hsa-miR-3919	CLIP-seq
MIRT2639549	hsa-miR-3928	CLIP-seq
MIRT2346850	hsa-miR-3941	CLIP-seq
MIRT2124622	hsa-miR-4436b-5p	CLIP-seq
MIRT1415267	hsa-miR-4645-3p	CLIP-seq
MIRT2346864	hsa-miR-466	CLIP-seq
MIRT2346866	hsa-miR-4672	CLIP-seq
MIRT1415269	hsa-miR-4684-3p	CLIP-seq
MIRT2639550	hsa-miR-4689	CLIP-seq
MIRT1415270	hsa-miR-4699-3p	CLIP-seq
MIRT2639551	hsa-miR-4709-5p	CLIP-seq
MIRT2639552	hsa-miR-4756-3p	CLIP-seq
MIRT2639554	hsa-miR-548p	CLIP-seq
MIRT2639555	hsa-miR-549	CLIP-seq

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Transcription factor	Regulation	Reference
SIRT1	Repression	20631301

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	11689487
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	12000749, 22130515
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	11689487, 12000749, 22130515
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	11689487, 22130515
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	22130515
GO:0001501	Process	Skeletal system development	IMP	9207801
GO:0001568	Process	Blood vessel development	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001708	Process	Cell fate specification	IBA
GO:0001947	Process	Heart looping	IEA
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003167	Process	Atrioventricular bundle cell differentiation	IEA
GO:0003272	Process	Endocardial cushion formation	IEA
GO:0003272	Process	Endocardial cushion formation	IMP	22130515
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	22002537, 25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11689487
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005929	Component	Cilium	IEA
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9207801
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	12032820
GO:0008595	Process	Anterior/posterior axis specification, embryo	IMP	9207801
GO:0009887	Process	Animal organ morphogenesis	IDA	9207801
GO:0010159	Process	Specification of animal organ position	IEA
GO:0019827	Process	Stem cell population maintenance	IEA
GO:0021761	Process	Limbic system development	IEA
GO:0030539	Process	Male genitalia development	IMP	12116211
GO:0030540	Process	Female genitalia development	IMP	12116211
GO:0030857	Process	Negative regulation of epithelial cell differentiation	IEA
GO:0030879	Process	Mammary gland development	IEA
GO:0030879	Process	Mammary gland development	IMP	12116211
GO:0031647	Process	Regulation of protein stability	IEA
GO:0032275	Process	Luteinizing hormone secretion	IMP	12116211
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IMP	12116211
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035136	Process	Forelimb morphogenesis	IDA	9207801
GO:0036302	Process	Atrioventricular canal development	IEA
GO:0036302	Process	Atrioventricular canal development	ISS	22130515
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IMP	9207801, 12116211
GO:0043066	Process	Negative regulation of apoptotic process	IDA	12032820
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	11689487
GO:0045662	Process	Negative regulation of myoblast differentiation	IDA	12032820
GO:0045787	Process	Positive regulation of cell cycle	IDA	12032820
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	10468588, 11689487
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	22130515
GO:0046884	Process	Follicle-stimulating hormone secretion	IMP	12116211
GO:0048332	Process	Mesoderm morphogenesis	IMP	9207801
GO:0048752	Process	Semicircular canal morphogenesis	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	IMP	22130515
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060444	Process	Branching involved in mammary gland duct morphogenesis	IEA
GO:0060596	Process	Mammary placode formation	IEA
GO:0060923	Process	Cardiac muscle cell fate commitment	IEA
GO:0060931	Process	Sinoatrial node cell development	IDA	22130515
GO:0060931	Process	Sinoatrial node cell development	IEA
GO:0061017	Process	Hepatoblast differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0061635	Process	Regulation of protein complex stability	IEA
GO:0072089	Process	Stem cell proliferation	IEA
GO:0072105	Process	Ureteric peristalsis	IEA
GO:0090398	Process	Cellular senescence	IDA	11748239, 22002537
GO:0090398	Process	Cellular senescence	IEA
GO:1905072	Process	Cardiac jelly development	IEA
GO:1905072	Process	Cardiac jelly development	IMP	22130515
GO:1905222	Process	Atrioventricular canal morphogenesis	IEA
GO:1905222	Process	Atrioventricular canal morphogenesis	ISS	22130515
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000137	Process	Negative regulation of cell proliferation involved in heart morphogenesis	IMP	22130515
GO:2000648	Process	Positive regulation of stem cell proliferation	IEA
GO:2000737	Process	Negative regulation of stem cell differentiation	IEA

MIM	HGNC	e!Ensembl
601621	11602	ENSG00000135111

O15119

Protein name

T-box transcription factor TBX3 (T-box protein 3)

Protein function

Transcriptional repressor involved in developmental processes (PubMed:10468588). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half-site, which are present in the regulatory region of several genes (PubMed:12000749)

PDB

1H6F

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00907	T-box	105 → 305	T-box	Domain
PF12598	TBX	323 → 407	T-box transcription factor	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed.

Sequence

MSLSMRDPVIPGTSMAYHPFLPHRAPDFAMSAVLGHQPPFFPALTLPPNGAAALSLPGAL
AKPIMDQLVGAAETGIPFSSLGPQAHLRPLKTMEPEEEVEDDPKVHLEAKELWDQFHKRG
TEMVITKSGRRMFPPFKVRCSGLDKKAKYILLMDIIAADDCRYKFHNSRWMVAGKADPEM
PKRMYIHPDSPATGEQWMSKVVTFHKLKLTNNISDKHGFTLAFPSDHATWQGNYSFGTQT
ILNSMHKYQPRFHIVRANDILKLPYSTFRTYLFPETEFIAVTAYQNDKITQLKIDNNPFA
KGFRDTGNGRREKRKQLTLQSMRVFDERHKKENGTSDESSSEQAAFNCFAQASSPAASTV
GTSNLKDLCPSEGESDAEAESKEEHGPEACDAAKISTTTSEEPCRDKGSPAVKAHLFAAE
RPRDSGRLDKASPDSRHSPATISSSTRGLGAEERRSPVREGTAPAKVEEARALPGKEAFA
PLTVQTDAAAAHLAQGPLPGLGFAPGLAGQQFFNGHPLFLHPSQFAMGGAFSSMAAAGMG
PLLATVSGASTGVSGLDSTAMASAAAAQGLSGASAATLPFHLQQHVLASQGLAMSPFGSL
FPYPYTYMAAAAAASSAAASSSVHRHPFLNLNTMRPRLRYSPYSIPVPVPDGSSLLTTAL
PSMAAAAGPLDGKVAALAASPASVAVDSGSELNSRSSTLSSSSMSLSPKLCAEKEAATSE
LQSIQRLVSGLEAKPDRSRSASP

Sequence length

743

Interactions

View interactions

	KEGG
	Signaling pathways regulating pluripotency of stem cells

524

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
TBX3-related disorder	Pathogenic	rs1457604010	RCV003392985
Ulnar-mammary syndrome	Pathogenic; Likely pathogenic	rs1237767989, rs2121158390, rs2499786519, rs2499790237, rs2499793907, rs1592851924, rs1592851007, rs104894376, rs1592852070, rs2499787857, rs2499787378, rs779733514, rs2499797082, rs2121153865, rs2499783504 View all (6 more)	RCV001382740 RCV001823052 RCV002285003 RCV002289028 RCV003052517 RCV000008451 RCV000008452 RCV000008453 RCV000008454 RCV003153217 RCV003154617 RCV003228724 RCV003510733 RCV003984944 RCV003988725 RCV003990307 RCV004018037 RCV000477734 RCV000024600 RCV000722180 RCV001052892

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs184058660	RCV005893069
Eccrine porocarcinoma	Uncertain significance	rs2499786967	RCV003459027
Obesity	Likely benign	rs145432134	RCV000754972

Show/Hide Text Mining Associations (52)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Astrocytoma	Associate	36260562
Ataxia Telangiectasia	Associate	27203213
Atrial Fibrillation	Associate	33155827
Breast Neoplasms	Associate	21098263, 22722201, 26451490, 26920143, 27100732, 27553211, 27632063, 27925203, 30697731, 33763657, 38003265
Calcinosis Cutis	Associate	17054779
Carcinoma Hepatocellular	Associate	24317053, 29295731, 30578408, 35610614
Carcinoma Intraductal Noninfiltrating	Associate	26249178, 27553211, 30697731
Carcinoma Lobular	Associate	26451490, 31018945
Carcinoma Non Small Cell Lung	Inhibit	30866410
Colorectal Neoplasms	Associate	20702496, 38499482
Conotruncal cardiac defects	Associate	30223900
Diabetes Mellitus	Stimulate	32627000
Diverticulum	Associate	39788453
Encephalitis Herpes Simplex	Associate	25394776
Glaucoma	Associate	32606567
Glioblastoma	Associate	21156036
Heart Defects Congenital	Associate	26283027, 35697867
Heart Failure	Associate	36656640
Hepatitis C	Associate	24386373
Hodgkin Disease	Stimulate	34807923
Hyperglycemic Hyperosmolar Nonketotic Coma	Associate	32627000
Hypogonadism	Associate	39788453
Inflammation	Associate	24386373
Ischemic Stroke	Associate	38174564
Laryngeal Neoplasms	Associate	28052013, 34268937
Lown Ganong Levine Syndrome	Associate	33155827
Lung Diseases	Associate	26635082
Melanoma	Associate	23190890, 27632063, 33744299
Melanoma	Stimulate	25595898
Neoplasm Invasiveness	Associate	30697731
Neoplasm Metastasis	Associate	23190890, 30578408
Neoplasms	Associate	21156036, 22722201, 23190890, 25394776, 25743805, 27100732, 27553211, 27632063, 29295731, 30578408, 33744299, 34944094, 35126619, 35243413, 35610614, 35637532, 37967237 View all (2 more)
Neoplasms	Stimulate	23082988, 24025717, 36260562
Non Muscle Invasive Bladder Neoplasms	Associate	25394776
Orofacial Cleft 1	Associate	37350193
Pancreatic Neoplasms	Associate	25743805
Pancreatic Neoplasms	Stimulate	27632063
Precancerous Conditions	Stimulate	36622795
Prodromal Symptoms	Associate	30697731
Squamous Cell Carcinoma of Head and Neck	Stimulate	23082988
Stomach Neoplasms	Associate	16367923
Stomach Neoplasms	Inhibit	27632063
Thyroid Carcinoma Anaplastic	Associate	35971932
Thyroid Neoplasms	Associate	35332119
Ulnar mammary syndrome	Associate	24025717, 36140816, 39788453
Urinary Bladder Diseases	Associate	39788453
Urinary Bladder Neoplasms	Associate	25394776, 35126619
Uterine Cervical Neoplasms	Associate	17054779, 28351298
Uterine Cervical Neoplasms	Stimulate	36622795
Vascular Diseases	Associate	32627000
Ventricular Outflow Obstruction Right	Associate	30223900
Wolff Parkinson White Syndrome	Associate	35960099

TBX3 (T-box transcription factor 3)