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

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7042
Gene name Gene Name - the full gene name approved by the HGNC.	Transforming growth factor beta 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TGFB2
Synonyms (NCBI Gene) Gene synonyms aliases	G-TSF, LDS4, TGF-beta2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q41
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate

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SNP ID	Visualize variation	Clinical significance	Consequence
rs10482810	G>C	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign	Non coding transcript variant, missense variant, coding sequence variant
rs11466408	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs387907278	C>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs398122884	ACAAT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs398122885	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs730880221	C>T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs863223790	G>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs863223792	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs863223793	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs863223795	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs863223796	A>-,AA	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, intron variant, frameshift variant
rs863223797	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs869025531	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs869025533	->A	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs869312903	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1057518029	A>G	Likely-pathogenic	Splice acceptor variant
rs1057518597	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1057518684	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1057521150	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064793278	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064796256	AA>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1436552875	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1553303161	TCAA>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553303203	CGGCGGAAGA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1553303213	G>A	Not-provided, likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs1553303221	G>A	Pathogenic	Splice donor variant
rs1553303352	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553303357	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1571902862	TATAAAGT>A	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1571904218	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1571904338	G>A	Likely-pathogenic	Splice donor variant

Show/Hide all(169)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002285	hsa-miR-141-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	18483486
MIRT006058	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT006058	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT006058	hsa-miR-29b-3p	ELISA, GFP reporter assay, qRT-PCR	21273536
MIRT017363	hsa-miR-335-5p	Microarray	18185580
MIRT019708	hsa-miR-375	Microarray	20215506
MIRT030844	hsa-miR-21-5p	Microarray	18591254
MIRT437425	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	24465609
MIRT006058	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT006058	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT652742	hsa-miR-619-3p	HITS-CLIP	23824327
MIRT652741	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT652740	hsa-miR-3690	HITS-CLIP	23824327
MIRT652739	hsa-miR-378a-3p	HITS-CLIP	23824327
MIRT652738	hsa-miR-378b	HITS-CLIP	23824327
MIRT652737	hsa-miR-378c	HITS-CLIP	23824327
MIRT652736	hsa-miR-378d	HITS-CLIP	23824327
MIRT652735	hsa-miR-378e	HITS-CLIP	23824327
MIRT652734	hsa-miR-378f	HITS-CLIP	23824327
MIRT652733	hsa-miR-378h	HITS-CLIP	23824327
MIRT652732	hsa-miR-378i	HITS-CLIP	23824327
MIRT652731	hsa-miR-422a	HITS-CLIP	23824327
MIRT652730	hsa-miR-3661	HITS-CLIP	23824327
MIRT652729	hsa-miR-631	HITS-CLIP	23824327
MIRT652728	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT652727	hsa-miR-5009-5p	HITS-CLIP	23824327
MIRT652726	hsa-miR-8058	HITS-CLIP	23824327
MIRT652725	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT652724	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT652723	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT731238	hsa-miR-193a-3p	Luciferase reporter assay	26822621
MIRT731238	hsa-miR-193a-3p	Luciferase reporter assay	26822621
MIRT734384	hsa-miR-199a-5p	Luciferase reporter assay, qRT-PCR	27842518
MIRT732234	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27267902
MIRT732234	hsa-miR-200a-3p	Luciferase reporter assay, qRT-PCR, Western blot	27267902
MIRT002285	hsa-miR-141-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	28115163
MIRT002285	hsa-miR-141-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	28115163
MIRT652739	hsa-miR-378a-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	27855367
MIRT652739	hsa-miR-378a-3p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	27855367
MIRT030844	hsa-miR-21-5p	Luciferase reporter assay	27388239
MIRT734338	hsa-miR-23a-3p	Microarray, qRT-PCR	31611205
MIRT734341	hsa-miR-34a-5p	Microarray, qRT-PCR	31611205
MIRT734384	hsa-miR-199a-5p	qRT-PCR, ELISA	34185228
MIRT734401	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, RNA-seq, Western blotting	33100909
MIRT734401	hsa-miR-7-5p	Luciferase reporter assay, qRT-PCR, RNA-seq, Western blotting	33100909
MIRT732234	hsa-miR-200a-3p	Microarray, ELISA	32564748
MIRT736690	hsa-miR-33a-3p	Microarray, ELISA	32564748
MIRT736708	hsa-miR-599	Luciferase reporter assay, Western blotting, qRT-PCR	33819188
MIRT006058	hsa-miR-29b-3p	Western blotting, qRT-PCR	31850164
MIRT737425	hsa-miR-324-5p	Luciferase reporter assay, Western blotting, Immunoprecipitaion (IP), RNA-seq, qRT-PCR	31858815
MIRT652742	hsa-miR-619-3p	HITS-CLIP	23824327
MIRT652741	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT652740	hsa-miR-3690	HITS-CLIP	23824327
MIRT652739	hsa-miR-378a-3p	HITS-CLIP	23824327
MIRT652738	hsa-miR-378b	HITS-CLIP	23824327
MIRT652737	hsa-miR-378c	HITS-CLIP	23824327
MIRT652736	hsa-miR-378d	HITS-CLIP	23824327
MIRT652735	hsa-miR-378e	HITS-CLIP	23824327
MIRT652734	hsa-miR-378f	HITS-CLIP	23824327
MIRT652733	hsa-miR-378h	HITS-CLIP	23824327
MIRT652732	hsa-miR-378i	HITS-CLIP	23824327
MIRT652731	hsa-miR-422a	HITS-CLIP	23824327
MIRT652730	hsa-miR-3661	HITS-CLIP	23824327
MIRT652729	hsa-miR-631	HITS-CLIP	23824327
MIRT652728	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT652727	hsa-miR-5009-5p	HITS-CLIP	23824327
MIRT652726	hsa-miR-8058	HITS-CLIP	23824327
MIRT652725	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT652724	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT652723	hsa-miR-4446-5p	HITS-CLIP	23824327
MIRT755374	hsa-miR-6766-3p	Luciferase reporter assay, Western blotting, qRT-PCR	34930304
MIRT734401	hsa-miR-7-5p	Luciferase reporter assay, Western blotting, qRT-PCR	35251919
MIRT734384	hsa-miR-199a-5p	qRT-PCR	34185228
MIRT1421127	hsa-miR-4320	CLIP-seq
MIRT1421128	hsa-miR-1193	CLIP-seq
MIRT1421129	hsa-miR-1290	CLIP-seq
MIRT1421130	hsa-miR-129-5p	CLIP-seq
MIRT1421131	hsa-miR-1305	CLIP-seq
MIRT1421132	hsa-miR-134	CLIP-seq
MIRT1421133	hsa-miR-141	CLIP-seq
MIRT1421134	hsa-miR-200a	CLIP-seq
MIRT1421135	hsa-miR-216a	CLIP-seq
MIRT1421136	hsa-miR-2278	CLIP-seq
MIRT1421137	hsa-miR-29a	CLIP-seq
MIRT1421138	hsa-miR-29b	CLIP-seq
MIRT1421139	hsa-miR-29c	CLIP-seq
MIRT1421140	hsa-miR-3074-5p	CLIP-seq
MIRT1421141	hsa-miR-3118	CLIP-seq
MIRT1421142	hsa-miR-3613-3p	CLIP-seq
MIRT1421143	hsa-miR-3616-5p	CLIP-seq
MIRT1421144	hsa-miR-3647-5p	CLIP-seq
MIRT1421145	hsa-miR-3663-3p	CLIP-seq
MIRT1421146	hsa-miR-3688-3p	CLIP-seq
MIRT1421147	hsa-miR-371-5p	CLIP-seq
MIRT1421148	hsa-miR-371b-5p	CLIP-seq
MIRT1421149	hsa-miR-4261	CLIP-seq
MIRT1421150	hsa-miR-4282	CLIP-seq
MIRT1421151	hsa-miR-4436b-5p	CLIP-seq
MIRT1421152	hsa-miR-4502	CLIP-seq
MIRT1421153	hsa-miR-4506	CLIP-seq
MIRT1421154	hsa-miR-4528	CLIP-seq
MIRT1421155	hsa-miR-4698	CLIP-seq
MIRT1421156	hsa-miR-4795-5p	CLIP-seq
MIRT1421157	hsa-miR-573	CLIP-seq
MIRT1421158	hsa-miR-607	CLIP-seq
MIRT1421159	hsa-miR-617	CLIP-seq
MIRT1421160	hsa-miR-629	CLIP-seq
MIRT1421161	hsa-miR-943	CLIP-seq
MIRT1421132	hsa-miR-134	CLIP-seq
MIRT1421141	hsa-miR-3118	CLIP-seq
MIRT1421143	hsa-miR-3616-5p	CLIP-seq
MIRT1421144	hsa-miR-3647-5p	CLIP-seq
MIRT1421156	hsa-miR-4795-5p	CLIP-seq
MIRT1421157	hsa-miR-573	CLIP-seq
MIRT1421159	hsa-miR-617	CLIP-seq
MIRT1421161	hsa-miR-943	CLIP-seq
MIRT1923015	hsa-miR-3655	CLIP-seq
MIRT1923016	hsa-miR-3977	CLIP-seq
MIRT1421150	hsa-miR-4282	CLIP-seq
MIRT1923017	hsa-miR-578	CLIP-seq
MIRT1923018	hsa-miR-593	CLIP-seq
MIRT2126348	hsa-miR-148a	CLIP-seq
MIRT2126349	hsa-miR-148b	CLIP-seq
MIRT2126350	hsa-miR-152	CLIP-seq
MIRT2126351	hsa-miR-361-5p	CLIP-seq
MIRT2126352	hsa-miR-4289	CLIP-seq
MIRT1421154	hsa-miR-4528	CLIP-seq
MIRT2126353	hsa-miR-616	CLIP-seq
MIRT2126354	hsa-miR-656	CLIP-seq
MIRT1421154	hsa-miR-4528	CLIP-seq
MIRT1421132	hsa-miR-134	CLIP-seq
MIRT2395708	hsa-miR-25	CLIP-seq
MIRT1421141	hsa-miR-3118	CLIP-seq
MIRT2395709	hsa-miR-32	CLIP-seq
MIRT1421143	hsa-miR-3616-5p	CLIP-seq
MIRT2395710	hsa-miR-363	CLIP-seq
MIRT1421144	hsa-miR-3647-5p	CLIP-seq
MIRT2395711	hsa-miR-367	CLIP-seq
MIRT1421150	hsa-miR-4282	CLIP-seq
MIRT2126352	hsa-miR-4289	CLIP-seq
MIRT1421154	hsa-miR-4528	CLIP-seq
MIRT1421156	hsa-miR-4795-5p	CLIP-seq
MIRT1421157	hsa-miR-573	CLIP-seq
MIRT2126353	hsa-miR-616	CLIP-seq
MIRT1421159	hsa-miR-617	CLIP-seq
MIRT2395712	hsa-miR-92a	CLIP-seq
MIRT2395713	hsa-miR-92b	CLIP-seq
MIRT1421161	hsa-miR-943	CLIP-seq
MIRT2440954	hsa-miR-155	CLIP-seq
MIRT2440955	hsa-miR-3166	CLIP-seq
MIRT2440956	hsa-miR-4771	CLIP-seq
MIRT2440957	hsa-miR-499a-5p	CLIP-seq
MIRT2440954	hsa-miR-155	CLIP-seq
MIRT2440955	hsa-miR-3166	CLIP-seq
MIRT2440956	hsa-miR-4771	CLIP-seq
MIRT2440957	hsa-miR-499a-5p	CLIP-seq
MIRT2461384	hsa-miR-3120-3p	CLIP-seq
MIRT1421151	hsa-miR-4436b-5p	CLIP-seq
MIRT2692972	hsa-miR-153	CLIP-seq
MIRT2692973	hsa-miR-302f	CLIP-seq
MIRT2692974	hsa-miR-3064-3p	CLIP-seq
MIRT2692975	hsa-miR-3127-3p	CLIP-seq
MIRT2692976	hsa-miR-3667-3p	CLIP-seq
MIRT2692977	hsa-miR-412	CLIP-seq
MIRT2692978	hsa-miR-448	CLIP-seq
MIRT2692979	hsa-miR-4661-5p	CLIP-seq
MIRT2692980	hsa-miR-4699-3p	CLIP-seq
MIRT2692981	hsa-miR-4715-3p	CLIP-seq
MIRT2692982	hsa-miR-502-5p	CLIP-seq

Transcription factors

Show/Hide all(5)

Transcription factor	Regulation	Reference
ATF1	Activation	11776974
ATF2	Repression	1400310
USF1	Activation	11776974
USF2	Activation	11776974
USF2	Unknown	8943301

Show/Hide all(204)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IDA	15896309
GO:0001501	Process	Skeletal system development	IEA
GO:0001501	Process	Skeletal system development	ISS
GO:0001502	Process	Cartilage condensation	IEA
GO:0001540	Function	Amyloid-beta binding	IDA	16227582
GO:0001568	Process	Blood vessel development	IEA
GO:0001654	Process	Eye development	IDA	15944186
GO:0001666	Process	Response to hypoxia	IEA
GO:0001666	Process	Response to hypoxia	IMP	12411310
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	ISS
GO:0001837	Process	Epithelial to mesenchymal transition	IDA	10092230, 18223299
GO:0001837	Process	Epithelial to mesenchymal transition	TAS	14679171
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0001942	Process	Hair follicle development	IDA	10433821
GO:0001942	Process	Hair follicle development	IEA
GO:0001942	Process	Hair follicle development	ISS
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0003007	Process	Heart morphogenesis	IDA	10092230
GO:0003148	Process	Outflow tract septum morphogenesis	IEA
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003149	Process	Membranous septum morphogenesis	IEA
GO:0003149	Process	Membranous septum morphogenesis	ISS
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003179	Process	Heart valve morphogenesis	IEA
GO:0003179	Process	Heart valve morphogenesis	ISS
GO:0003181	Process	Atrioventricular valve morphogenesis	IEA
GO:0003181	Process	Atrioventricular valve morphogenesis	ISS
GO:0003184	Process	Pulmonary valve morphogenesis	IEA
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003203	Process	Endocardial cushion morphogenesis	IEA
GO:0003203	Process	Endocardial cushion morphogenesis	ISS
GO:0003215	Process	Cardiac right ventricle morphogenesis	IEA
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	ISS
GO:0003274	Process	Endocardial cushion fusion	IEA
GO:0003274	Process	Endocardial cushion fusion	ISS
GO:0003289	Process	Atrial septum primum morphogenesis	IEA
GO:0003289	Process	Atrial septum primum morphogenesis	ISS
GO:0003407	Process	Neural retina development	IEA
GO:0003407	Process	Neural retina development	ISS
GO:0005102	Function	Signaling receptor binding	IMP	16227582
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IDA	11157754
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IEA
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IMP	8167376
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IPI	1333888, 7852346, 11157754
GO:0005125	Function	Cytokine activity	IBA
GO:0005160	Function	Transforming growth factor beta receptor binding	IDA	10092230, 16227582
GO:0005160	Function	Transforming growth factor beta receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	2022183, 2119582, 8617200, 10930463, 11157754, 16227582, 17827158, 19651619, 25241761, 32814053
GO:0005576	Component	Extracellular region	IDA	16227582
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	2119582
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	24263861
GO:0005615	Component	Extracellular space	IEA
GO:0005768	Component	Endosome	IEA
GO:0006924	Process	Activation-induced cell death of T cells	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	12015308, 18548003
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	11157754, 17192487, 18223299, 18358889
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007423	Process	Sensory organ development	IEA
GO:0007435	Process	Salivary gland morphogenesis	IEA
GO:0007435	Process	Salivary gland morphogenesis	IEP	18080134
GO:0007507	Process	Heart development	IBA
GO:0007507	Process	Heart development	IDA	15896309
GO:0007507	Process	Heart development	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	15896309
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	15944186
GO:0008347	Process	Glial cell migration	IDA	18431253
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	ISS
GO:0009611	Process	Response to wounding	IEP	16891397, 18040277
GO:0009792	Process	Embryo development ending in birth or egg hatching	IEA
GO:0009792	Process	Embryo development ending in birth or egg hatching	TAS	2119582
GO:0010002	Process	Cardioblast differentiation	IDA	15896309
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IDA	25217442
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010634	Process	Positive regulation of epithelial cell migration	IDA	17960115
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	17999987, 18505915
GO:0010936	Process	Negative regulation of macrophage cytokine production	IDA	20875417
GO:0010936	Process	Negative regulation of macrophage cytokine production	IEA
GO:0014706	Process	Striated muscle tissue development	IEA
GO:0016477	Process	Cell migration	IDA	10092230
GO:0016525	Process	Negative regulation of angiogenesis	IDA	25217442, 28977001
GO:0023052	Process	Signaling	IDA	16227582
GO:0030097	Process	Hemopoiesis	IEA
GO:0030097	Process	Hemopoiesis	ISS
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030199	Process	Collagen fibril organization	IDA	16891397
GO:0030307	Process	Positive regulation of cell growth	IDA	15896309
GO:0030308	Process	Negative regulation of cell growth	IDA	18358889
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030326	Process	Embryonic limb morphogenesis	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030593	Process	Neutrophil chemotaxis	ISS
GO:0030855	Process	Epithelial cell differentiation	IDA	18358889
GO:0031012	Component	Extracellular matrix	IDA	18049952
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031069	Process	Hair follicle morphogenesis	ISS
GO:0031093	Component	Platelet alpha granule lumen	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0032570	Process	Response to progesterone	IDA	18039789
GO:0032570	Process	Response to progesterone	IEA
GO:0032874	Process	Positive regulation of stress-activated MAPK cascade	IDA	17192487
GO:0032909	Process	Regulation of transforming growth factor beta2 production	IMP	12411310
GO:0032956	Process	Regulation of actin cytoskeleton organization	IEA
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IDA	17960115, 18223299
GO:0034714	Function	Type III transforming growth factor beta receptor binding	IEA
GO:0034714	Function	Type III transforming growth factor beta receptor binding	IMP	8167376
GO:0034714	Function	Type III transforming growth factor beta receptor binding	IPI	7852346, 11157754
GO:0035910	Process	Ascending aorta morphogenesis	IEA
GO:0035910	Process	Ascending aorta morphogenesis	ISS
GO:0042060	Process	Wound healing	ISS
GO:0042127	Process	Regulation of cell population proliferation	IBA
GO:0042127	Process	Regulation of cell population proliferation	IDA	18223299
GO:0042416	Process	Dopamine biosynthetic process	IEA
GO:0042416	Process	Dopamine biosynthetic process	ISS
GO:0042476	Process	Odontogenesis	NAS	18078367
GO:0042704	Process	Uterine wall breakdown	TAS	18039789
GO:0042803	Function	Protein homodimerization activity	IDA	2119582
GO:0042981	Process	Regulation of apoptotic process	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IDA	16227582
GO:0045216	Process	Cell-cell junction organization	IDA	18505915
GO:0045216	Process	Cell-cell junction organization	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045726	Process	Positive regulation of integrin biosynthetic process	IDA	17960115
GO:0045747	Process	Positive regulation of Notch signaling pathway	IDA	25217442
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0045787	Process	Positive regulation of cell cycle	ISS
GO:0045823	Process	Positive regulation of heart contraction	IDA	15896309
GO:0046580	Process	Negative regulation of Ras protein signal transduction	IEA
GO:0046580	Process	Negative regulation of Ras protein signal transduction	ISS
GO:0048103	Process	Somatic stem cell division	IEA
GO:0048103	Process	Somatic stem cell division	ISS
GO:0048566	Process	Embryonic digestive tract development	IEP	20875417
GO:0048663	Process	Neuron fate commitment	IEA
GO:0048666	Process	Neuron development	IEA
GO:0048666	Process	Neuron development	ISS
GO:0048699	Process	Generation of neurons	TAS	15944186
GO:0048839	Process	Inner ear development	IEA
GO:0048839	Process	Inner ear development	ISS
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IDA	17217916
GO:0050680	Process	Negative regulation of epithelial cell proliferation	IMP	16943770
GO:0050714	Process	Positive regulation of protein secretion	IDA	18505915
GO:0050714	Process	Positive regulation of protein secretion	IEA
GO:0050778	Process	Positive regulation of immune response	ISS
GO:0051130	Process	Positive regulation of cellular component organization	IEA
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0051794	Process	Regulation of timing of catagen	IDA	15955085
GO:0051795	Process	Positive regulation of timing of catagen	IDA	15955085
GO:0051891	Process	Positive regulation of cardioblast differentiation	IDA	15896309
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	18223299
GO:0060038	Process	Cardiac muscle cell proliferation	IDA	15896309
GO:0060065	Process	Uterus development	IEA
GO:0060065	Process	Uterus development	ISS
GO:0060317	Process	Cardiac epithelial to mesenchymal transition	IDA	10092230
GO:0060325	Process	Face morphogenesis	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IDA	11157754, 17192487, 18358889
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	IEA
GO:0060412	Process	Ventricular septum morphogenesis	IEA
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0060413	Process	Atrial septum morphogenesis	IEA
GO:0060413	Process	Atrial septum morphogenesis	ISS
GO:0061037	Process	Negative regulation of cartilage development	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	IEA
GO:0061626	Process	Pharyngeal arch artery morphogenesis	ISS
GO:0062009	Process	Secondary palate development	IEA
GO:0062009	Process	Secondary palate development	ISS
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	IEA
GO:0070237	Process	Positive regulation of activation-induced cell death of T cells	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0090091	Process	Positive regulation of extracellular matrix disassembly	IEA
GO:0097191	Process	Extrinsic apoptotic signaling pathway	IDA	17217916
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:0141091	Process	Transforming growth factor beta receptor superfamily signaling pathway	IEA
GO:1900182	Process	Positive regulation of protein localization to nucleus	IEA
GO:1902256	Process	Regulation of apoptotic process involved in outflow tract morphogenesis	IEA
GO:1902256	Process	Regulation of apoptotic process involved in outflow tract morphogenesis	ISS
GO:1902895	Process	Positive regulation of miRNA transcription	IDA	25217442
GO:1903053	Process	Regulation of extracellular matrix organization	IEA
GO:1903659	Process	Regulation of complement-dependent cytotoxicity	IMP	16034134
GO:1903701	Process	Substantia propria of cornea development	IEA
GO:1903701	Process	Substantia propria of cornea development	ISS
GO:1904238	Process	Pericyte cell differentiation	IEA
GO:1904888	Process	Cranial skeletal system development	IEA
GO:1904888	Process	Cranial skeletal system development	ISS
GO:1905006	Process	Negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:1905006	Process	Negative regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:1905007	Process	Positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IEA
GO:1905007	Process	Positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:2001241	Process	Positive regulation of extrinsic apoptotic signaling pathway in absence of ligand	IEA

MIM	HGNC	e!Ensembl
190220	11768	ENSG00000092969

Protein

UniProt ID

P61812

Protein name

Transforming growth factor beta-2 proprotein (Cetermin) (Glioblastoma-derived T-cell suppressor factor) (G-TSF) [Cleaved into: Latency-associated peptide (LAP); Transforming growth factor beta-2 (TGF-beta-2)]

Protein function

[Transforming growth factor beta-2 proprotein]: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-2 (TGF-beta-2) chains, which constitute the regulatory and active subunit of TGF-beta-2, respectively. {ECO:000

PDB

1TFG , 2TGI , 4KXZ , 5TX4 , 5TY4 , 6I9J , 6XM2 , 7RCO , 8DC0 , 8FXS , 8FXV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00688	TGFb_propeptide	20 → 284	TGF-beta propeptide	Family
PF00019	TGF_beta	316 → 413	Transforming growth factor beta like domain	Domain

Sequence

MHYCVLSAFLILHLVTVALSLSTCSTLDMDQFMRKRIEAIRGQILSKLKLTSPPEDYPEP
EEVPPEVISIYNSTRDLLQEKASRRAAACERERSDEEYYAKEVYKIDMPPFFPSENAIPP
TFYRPYFRIVRFDVSAMEKNASNLVKAEFRVFRLQNPKARVPEQRIELYQILKSKDLTSP
TQRYIDSKVVKTRAEGEWLSFDVTDAVHEWLHHKDRNLGFKISLHCPCCTFVPSNNYIIP
NKSEELEARFAGIDGTSTYTSGDQKTIKSTRKKNSGKTPHLLLMLLPSYRLESQQTNRRK
KRALDAAYCFRNVQDNCCLRPLYIDFKRDLGWKWIHEPKGYNANFCAGACPYLWSSDTQH
SRVLSLYNTINPEASASPCCVSQDLEPLTILYYIGKTPKIEQLSNMIVKSCKCS

Sequence length

414

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Loeys-Dietz Syndrome	loeys-dietz syndrome 4, loeys-dietz syndrome	rs730880221, rs760759052, rs1553303213, rs1553292099, rs1558264130, rs869312903, rs863223790, rs1571821003, rs1553292145, rs1571904218, rs1553303203, rs863223796, rs398122884, rs1553303352, rs863223792 View all (8 more)	N/A
Thoracic Aortic Aneurysm And Aortic Dissection	familial thoracic aortic aneurysm and aortic dissection	rs1064796256, rs1553292145, rs1553303213, rs869312903, rs863223796, rs1553303352, rs863223792, rs1057521150, rs1553292123, rs1553303357, rs1553303745, rs869025531	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Aortic Aneurysm	aortic aneurysm, Aortic aneurysm	N/A	N/A	ClinVar, GWAS
Connective Tissue Disease	Connective tissue disorder	N/A	N/A	ClinVar
Ehlers-Danlos Syndrome	ehlers-danlos syndrome	N/A	N/A	ClinVar
Hirschsprung Disease	Hirschsprung disease, susceptibility to, 1	N/A	N/A	ClinVar
Holt-Oram Syndrome	holt-oram syndrome	N/A	N/A	ClinVar
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS

Show/Hide Text Mining Associations (232)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Acne Vulgaris	Associate	24927181
Acro Osteolysis	Associate	21419220
Adenocarcinoma	Associate	25163519
Adenoma	Associate	26313302
Adrenal Hyperplasia Congenital	Stimulate	24380766
Androgen Insensitivity Syndrome	Stimulate	25313366
Anemia Diamond Blackfan	Associate	26258650
Aneurysm	Associate	25163805, 34185228
Aortic Aneurysm	Associate	23099432, 24193348, 40139558, 40243722
Aortic Aneurysm Familial Thoracic 1	Associate	22772371
Aortic Aneurysm Thoracic	Associate	24193348, 24707114, 26854089
Aortic Diseases	Associate	27782106
Aortic Dissection	Associate	22772371, 27782106, 35078481, 35307021, 40139558, 40243722
Arterial Tortuosity Syndrome	Associate	24193348
Arthritis Rheumatoid	Inhibit	17594488
Asthma	Associate	15466377, 17251317, 18348727, 35774789
Asthma	Stimulate	21685242
Atherosclerosis	Associate	37200403
Autistic Disorder	Stimulate	23231720
Blindness	Associate	29286127
Bone Diseases	Associate	20362080
Bone Diseases Metabolic	Associate	35205249
Bone Neoplasms	Associate	23199169
Brain Diseases	Associate	30468562
Brain Neoplasms	Associate	22582395
Breast Neoplasms	Associate	18563556, 21527583, 22436421, 23098454, 25120797, 26703884, 28915803, 34993493, 36650834, 36696357, 38531630, 40012020
Breast Neoplasms	Stimulate	30579251
Calcinosis	Associate	35808901
Camurati Engelmann disease type 2	Associate	40204055
Camurati Engelmann Syndrome	Associate	40204055
Capsule Opacification	Associate	32345785
Capsule Opacification	Stimulate	35954230
Carcinogenesis	Associate	12011061
Carcinoma Hepatocellular	Associate	12402381, 33115518, 34443536, 35165519
Carcinoma Non Small Cell Lung	Associate	33760169
Carcinoma Ovarian Epithelial	Inhibit	28623900
Carcinoma Ovarian Epithelial	Associate	9649178
Carcinoma Pancreatic Ductal	Associate	39273323, 39457004
Carcinoma Renal Cell	Associate	25813153
Carcinoma Squamous Cell	Associate	30232004
Cardiomyopathy Dilated	Associate	21127203
Cardiomyopathy Dilated	Inhibit	40243722
Cardiovascular Diseases	Associate	20665672
Cataract	Stimulate	22128246, 24157878, 35379202, 36289352
Cataract	Associate	29588342, 8664236
Cataract Age Related Nuclear	Stimulate	35379202
Colitis Ulcerative	Associate	31584460
Collagen Diseases	Inhibit	16400016
Colorectal Neoplasms	Associate	16886611, 27880067, 29891662, 29986714, 31186036, 33181667, 35186110
Colorectal Neoplasms	Stimulate	35537198
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	29286127
Constriction Pathologic	Stimulate	11742810
Cornea guttata with anterior polar cataract	Associate	32307099
Corneal Dystrophy Band Shaped	Associate	20142847
Corneal Dystrophy Posterior Polymorphous 1	Associate	28414732
Coronary Aneurysm	Associate	21127203
Coronary Artery Disease	Associate	21889313
Coronary Artery Dissection Spontaneous	Associate	33125268
Crohn Disease	Stimulate	11742810, 12651627
Crohn Disease	Associate	9923802
Death Sudden	Associate	26846766
Dental Plaque	Stimulate	37200403
Diabetes Mellitus	Stimulate	35379202
Diabetes Mellitus Type 1	Associate	23494449
Diastrophic dysplasia	Associate	9825196
Drug Hypersensitivity	Associate	17251317
Dry Eye Syndromes	Associate	27247515
Dyggve Melchior Clausen syndrome	Stimulate	35379202
Ectopia Lentis	Stimulate	31180551
Eczema	Stimulate	28538696
Emphysema	Associate	31343404
Endometriosis	Associate	28030938
Enterocolitis Necrotizing	Associate	26225425
Ependymoma	Associate	8200640
Epileptic Syndromes	Associate	27782106
Exfoliation Syndrome	Stimulate	34870675
Eye Neoplasms	Stimulate	21738403
Familial Primary Pulmonary Hypertension	Associate	25644172
Fatigue Syndrome Chronic	Associate	29202780
Fetal Growth Retardation	Associate	35090410
Fibroma	Associate	8450031
Fibromuscular Dysplasia	Associate	24732132
Fibrosarcoma	Associate	23297089
Fibrosis	Associate	1697606, 18253093, 18348727, 21148227, 28159972, 29752408, 31169972, 33068626, 34140021, 34502356, 34777248, 35774789, 7495347
Fibrosis	Stimulate	21685242, 28400560
Gallbladder Neoplasms	Associate	31858815
Gastrointestinal Stromal Tumors	Associate	36966336
Genetic Diseases Inborn	Associate	29907982
Genital Diseases Female	Associate	16382674
Giant Cell Tumor of Bone	Associate	1756472
Giant Cell Tumors	Associate	8698303
Gingival Overgrowth	Associate	32455102
Glaucoma	Associate	10396201, 17591888, 22876128, 26191170, 26396484, 29752408, 32410836, 32579557, 33746571, 33795740, 34140021, 35689009, 36766846
Glaucoma	Stimulate	21722634, 24718314
Glaucoma Open Angle	Stimulate	19450457, 21917933, 23513064, 25197353, 28400560, 29752408
Glaucoma Open Angle	Associate	23940598, 24030464, 24718314, 28159972, 32410836, 33821883, 34440692, 34588570, 34870675, 36011411, 37316554
Glaucoma Open Angle	Inhibit	34140021
Glioblastoma	Associate	1830205, 20493562, 24223867, 25849941, 25891822, 29642484, 3322813
Glioma	Associate	12230496, 15584904, 17453002, 19033423, 20838435, 24223867, 27163626, 7477684, 7521890
Glycogen Storage Disease Type II	Associate	23940728
Granulosa Cell Tumor	Associate	23322721
Hair Diseases	Associate	22971919
Heart Defects Congenital	Associate	35035663
Heart Diseases	Associate	35078481
Hepatitis C	Associate	15133472
Hereditary pancreatitis	Inhibit	12011061
Hernia Inguinal	Associate	34392144
Hyperostosis	Associate	40204055
Hypertrophy	Inhibit	16400016, 17683641
Hypoxia	Associate	25867965, 30425199, 35186110, 35628282
Hypoxia Brain	Stimulate	24347249
Hypoxia Brain	Associate	29891662
Infections	Associate	21482686
Inflammation	Associate	15000862, 1697606, 23231720, 23494449, 24039874, 25132780, 26556395, 35510503, 35689009, 35774789, 37200403, 37948519
Inflammation	Inhibit	33105725
Inflammatory Bowel Diseases	Associate	25132780
Intervertebral Disc Degeneration	Associate	15980999
Intervertebral Disc Displacement	Associate	15980999
Intracranial Arteriovenous Malformations	Associate	10235000
Juvenile macular degeneration and hypotrichosis	Associate	22971919
Keloid	Associate	16467496, 27025872
Keloid	Stimulate	24436441
Keratoconus	Associate	36811882
Kidney Failure Chronic	Associate	9067916
Laminopathies	Associate	32585971
Leiomyoma	Associate	36771423
Leprosy Lepromatous	Associate	12641657
Leukemia Lymphocytic Chronic B Cell	Associate	17148579
Livedoid Vasculopathy	Associate	35204817
Liver Cirrhosis	Stimulate	33682288
Liver Neoplasms	Stimulate	26301107
Loeys Dietz Syndrome	Associate	24193348, 25163805, 27782106, 29742657, 32307099, 33059708, 34680857, 34716148, 36007983, 40282317
Lung Neoplasms	Associate	24698130
Lupus Erythematosus Systemic	Associate	23125486
Lymphatic Metastasis	Associate	34362313
Lymphoma Non Hodgkin	Associate	34790823
Macular Degeneration	Inhibit	29795291
Macular Degeneration	Associate	32209064
Malaria Cerebral	Associate	20585394
Malaria Falciparum	Associate	20585394
Malignant mesenchymal tumor	Associate	8450031
Mandibuloacral dysplasia with type A lipodystrophy	Associate	21419220
Marfan Syndrome	Associate	22772371, 24193348, 25644172
Marfan Syndrome	Inhibit	40243722
Medulloblastoma	Associate	22582395, 8200640
Melanoma	Associate	12230496, 17565341, 25743834, 34773645, 8030760, 8669474
Microphthalmia Isolated with Coloboma 2	Associate	33418956
Microphthalmos	Associate	33418956
Milk Hypersensitivity	Stimulate	34707611
Mitochondrial Diseases	Stimulate	21917933
Mitral Valve Prolapse	Associate	26846766
Multiple Sclerosis	Inhibit	26768647
Musculoskeletal Abnormalities	Associate	24193348
Myopia	Associate	19710942, 36289352
Nasopharyngeal Neoplasms	Inhibit	10929762
Neointima	Associate	32985730, 8698303
Neoplasm Metastasis	Inhibit	22447278
Neoplasm Metastasis	Associate	24324730, 28915803, 30737902, 33760169, 34773645, 36650834, 8030760
Neoplasms	Associate	15118089, 15133472, 15579438, 16519564, 16886611, 17565341, 19661324, 19937272, 20629536, 25107568, 25813153, 26703884, 28893556, 29891662, 29966014 View all (22 more)
Neoplasms	Stimulate	16094523, 35954230
Nephrosclerosis	Associate	9067916
Nephrosis Lipoid	Stimulate	32579557
Nervous System Diseases	Associate	21738403
Neuroblastoma	Associate	22582395
Neuroectodermal Tumors	Associate	8200640
Neuroectodermal Tumors Primitive	Associate	8200640
Nevus	Associate	8669474
Non Muscle Invasive Bladder Neoplasms	Stimulate	28261684
Ocular Hypertension	Associate	22876128
Oculocerebrorenal Syndrome	Associate	35205249
Odontogenic Tumors	Associate	8450031
Optic Nerve Diseases	Associate	23280001
Osteoarthritis	Inhibit	17594488
Osteoporosis	Associate	35205249
Osteosarcoma	Associate	16540432, 25793604
Ovarian Neoplasms	Stimulate	18505915
Ovarian Neoplasms	Associate	29512773, 32351985, 36550569, 38186569
Pain	Associate	40204055
Pancreatic Neoplasms	Associate	10938282, 18157915, 31213574, 32867538
Pancreatic Neoplasms	Stimulate	23651239
Pancreatitis	Associate	16519564
Pancreatitis Acute Necrotizing	Associate	9445116
Pemphigus	Associate	32926429
Pigmentary Disorder Reticulate with Systemic Manifestations	Associate	26125263
Pituitary Neoplasms	Associate	9250163
Plagiocephaly and X linked mental retardation	Associate	24193348
Polycystic Ovary Syndrome	Associate	20630504
Polycythemia Vera	Associate	35427808
Posterior Capsular Rupture Ocular	Associate	18436832
Preeclamptic toxemia	Associate	36006052
Premature Birth	Stimulate	32326558
Prostatic Neoplasms	Associate	15118089, 24615813, 24651255, 31605802
Prostatitis	Associate	1373503
Protein Energy Malnutrition	Associate	38017491
Pterygium	Associate	27919682
Pulmonary Disease Chronic Obstructive	Associate	25006744, 34166600
Renal Insufficiency Chronic	Associate	38017491, 8840277
Retinal Diseases	Associate	35628282
Retinal Perforations	Inhibit	8956640
Retinitis	Associate	35628282
Sarcoidosis	Associate	21148227
Schizophrenia	Associate	30468562
Scleroderma Systemic	Associate	10700426, 1697606
Sjogren's Syndrome	Associate	7495347
Skin Neoplasms	Associate	35886018
Sleep Deprivation	Stimulate	20606027
Small Cell Lung Carcinoma	Associate	8388229
Squamous Cell Carcinoma of Head and Neck	Associate	25946135, 34362313
Status Asthmaticus	Associate	15466377, 16449267, 22227561, 24875618, 25849331, 32150688
Status Asthmaticus	Stimulate	22227417, 22970254
Stomach Neoplasms	Associate	28444881, 30737902, 32388013, 32530106
Stomach Neoplasms	Stimulate	33115518
Stress Disorders Post Traumatic	Associate	22464821
Syndrome	Associate	24193348
Tertiary Lymphoid Structures	Associate	26703884
Thinness	Associate	32307099
Thoracic Diseases	Associate	22772371, 24193348, 26846766
Thymus Neoplasms	Associate	28506304
Urinary Bladder Neoplasms	Associate	28261684, 29966014, 33200222
Urinary Bladder Neoplasms	Inhibit	9192977
Uterine Cervical Dysplasia	Stimulate	8088612
Uveal melanoma	Associate	18300240
Van der Woude syndrome	Associate	7825592
Varicose Ulcer	Associate	11710945
Vascular Calcification	Associate	35808901
Vascular Diseases	Associate	34716148
Ventricular Remodeling	Associate	17251317
Vision Disorders	Associate	29286127
Vitreoretinopathy Proliferative	Associate	18253093, 28138219, 33047885, 34523693, 36672142
Vohwinkel Syndrome Variant Form	Associate	34773645
Wilms Tumor	Associate	23042785
Wrist Fractures	Associate	35205249

TGFB2 (transforming growth factor beta 2)