GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

TGFB3 (transforming growth factor beta 3)

Gene

7043

Transforming growth factor beta 3

TGFB3

ARVD, ARVD1, LDS5, RNHF, TGF-beta3

14q24.3

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

Show/Hide all(28)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143229915	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs387906514	G>A	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant
rs398122984	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs587777617	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs767548724	C>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs770828281	C>T	Pathogenic, uncertain-significance	5 prime UTR variant
rs778990969	A>G,T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs796051885	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs796051886	C>G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs875989816	A>G	Pathogenic	Splice donor variant
rs875989817	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057522944	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523647	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1060502826	CC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060502827	G>A,C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs1555360027	C>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555360047	TCAG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555360222	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555360229	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555360362	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555360368	->TTCCTCTG	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs1555360883	C>G	Likely-pathogenic	Splice acceptor variant
rs1555361385	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555361451	T>A	Pathogenic	Stop gained, coding sequence variant
rs1566679646	C>G	Likely-pathogenic	Splice acceptor variant
rs1566682530	C>G	Likely-pathogenic	Splice acceptor variant
rs1594787989	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1594792466	A>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(158)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005910	hsa-miR-29a-3p	qRT-PCR	21169019
MIRT047598	hsa-miR-10a-5p	CLASH	23622248
MIRT000095	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT000095	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT734385	hsa-miR-365a-3p	qRT-PCR, ELISA	34185228
MIRT1421162	hsa-miR-2278	CLIP-seq
MIRT1421163	hsa-miR-3120-3p	CLIP-seq
MIRT1421164	hsa-miR-3908	CLIP-seq
MIRT1421165	hsa-miR-4468	CLIP-seq
MIRT1421166	hsa-miR-4536	CLIP-seq
MIRT1421167	hsa-miR-576-3p	CLIP-seq
MIRT2126355	hsa-miR-1182	CLIP-seq
MIRT2126356	hsa-miR-1273d	CLIP-seq
MIRT2126357	hsa-miR-1275	CLIP-seq
MIRT2126358	hsa-miR-193a-5p	CLIP-seq
MIRT2126359	hsa-miR-204	CLIP-seq
MIRT2126360	hsa-miR-211	CLIP-seq
MIRT2126361	hsa-miR-3591-3p	CLIP-seq
MIRT2126362	hsa-miR-3646	CLIP-seq
MIRT2126363	hsa-miR-3692	CLIP-seq
MIRT2126364	hsa-miR-369-5p	CLIP-seq
MIRT2126365	hsa-miR-4271	CLIP-seq
MIRT2126366	hsa-miR-432	CLIP-seq
MIRT2126367	hsa-miR-4443	CLIP-seq
MIRT2126368	hsa-miR-4447	CLIP-seq
MIRT2126369	hsa-miR-4472	CLIP-seq
MIRT2126370	hsa-miR-4517	CLIP-seq
MIRT2126371	hsa-miR-4525	CLIP-seq
MIRT2126372	hsa-miR-4665-5p	CLIP-seq
MIRT2126373	hsa-miR-4723-5p	CLIP-seq
MIRT2126374	hsa-miR-4725-3p	CLIP-seq
MIRT2126375	hsa-miR-4795-5p	CLIP-seq
MIRT2126376	hsa-miR-548b-3p	CLIP-seq
MIRT2126377	hsa-miR-625	CLIP-seq
MIRT2126378	hsa-miR-873	CLIP-seq
MIRT2348364	hsa-miR-1291	CLIP-seq
MIRT2348365	hsa-miR-1301	CLIP-seq
MIRT2348366	hsa-miR-145	CLIP-seq
MIRT2348367	hsa-miR-3120-5p	CLIP-seq
MIRT2348368	hsa-miR-3126-5p	CLIP-seq
MIRT2348369	hsa-miR-3176	CLIP-seq
MIRT2348370	hsa-miR-328	CLIP-seq
MIRT2348371	hsa-miR-346	CLIP-seq
MIRT2348372	hsa-miR-3661	CLIP-seq
MIRT2126364	hsa-miR-369-5p	CLIP-seq
MIRT2348373	hsa-miR-3922-3p	CLIP-seq
MIRT2348374	hsa-miR-3944-5p	CLIP-seq
MIRT2348375	hsa-miR-4264	CLIP-seq
MIRT2348376	hsa-miR-4288	CLIP-seq
MIRT2348377	hsa-miR-4419a	CLIP-seq
MIRT2348378	hsa-miR-4510	CLIP-seq
MIRT2126370	hsa-miR-4517	CLIP-seq
MIRT2348379	hsa-miR-4520a-5p	CLIP-seq
MIRT2348380	hsa-miR-4520b-5p	CLIP-seq
MIRT2348381	hsa-miR-4660	CLIP-seq
MIRT2348382	hsa-miR-4711-3p	CLIP-seq
MIRT2348383	hsa-miR-4732-3p	CLIP-seq
MIRT2348384	hsa-miR-4779	CLIP-seq
MIRT2126375	hsa-miR-4795-5p	CLIP-seq
MIRT2348385	hsa-miR-5047	CLIP-seq
MIRT2348386	hsa-miR-619	CLIP-seq
MIRT2348387	hsa-miR-622	CLIP-seq
MIRT2348388	hsa-miR-631	CLIP-seq
MIRT2348389	hsa-miR-632	CLIP-seq
MIRT2348390	hsa-miR-665	CLIP-seq
MIRT2348391	hsa-miR-938	CLIP-seq
MIRT2395714	hsa-miR-1324	CLIP-seq
MIRT2641107	hsa-miR-1237	CLIP-seq
MIRT2641108	hsa-miR-1238	CLIP-seq
MIRT2641109	hsa-miR-1248	CLIP-seq
MIRT2641110	hsa-miR-188-5p	CLIP-seq
MIRT2641111	hsa-miR-1913	CLIP-seq
MIRT2126359	hsa-miR-204	CLIP-seq
MIRT2641112	hsa-miR-2053	CLIP-seq
MIRT2126360	hsa-miR-211	CLIP-seq
MIRT2641113	hsa-miR-2909	CLIP-seq
MIRT2641114	hsa-miR-3064-3p	CLIP-seq
MIRT2348367	hsa-miR-3120-5p	CLIP-seq
MIRT2641115	hsa-miR-3124-3p	CLIP-seq
MIRT2641116	hsa-miR-3171	CLIP-seq
MIRT2641117	hsa-miR-324-3p	CLIP-seq
MIRT2348371	hsa-miR-346	CLIP-seq
MIRT2641118	hsa-miR-3667-3p	CLIP-seq
MIRT2641119	hsa-miR-3668	CLIP-seq
MIRT2641120	hsa-miR-4287	CLIP-seq
MIRT2348376	hsa-miR-4288	CLIP-seq
MIRT2641121	hsa-miR-4317	CLIP-seq
MIRT2641122	hsa-miR-4421	CLIP-seq
MIRT2641123	hsa-miR-4469	CLIP-seq
MIRT2348379	hsa-miR-4520a-5p	CLIP-seq
MIRT2348380	hsa-miR-4520b-5p	CLIP-seq
MIRT2641124	hsa-miR-4685-3p	CLIP-seq
MIRT2641125	hsa-miR-4709-3p	CLIP-seq
MIRT2641126	hsa-miR-4713-5p	CLIP-seq
MIRT2641127	hsa-miR-4715-3p	CLIP-seq
MIRT2641128	hsa-miR-4732-5p	CLIP-seq
MIRT2641129	hsa-miR-490-3p	CLIP-seq
MIRT2641130	hsa-miR-511	CLIP-seq
MIRT2641131	hsa-miR-569	CLIP-seq
MIRT2641132	hsa-miR-605	CLIP-seq
MIRT2348389	hsa-miR-632	CLIP-seq
MIRT2641133	hsa-miR-649	CLIP-seq
MIRT2348391	hsa-miR-938	CLIP-seq
MIRT2641107	hsa-miR-1237	CLIP-seq
MIRT2641108	hsa-miR-1238	CLIP-seq
MIRT2641109	hsa-miR-1248	CLIP-seq
MIRT2395714	hsa-miR-1324	CLIP-seq
MIRT2692983	hsa-miR-144	CLIP-seq
MIRT2641110	hsa-miR-188-5p	CLIP-seq
MIRT2641111	hsa-miR-1913	CLIP-seq
MIRT2126359	hsa-miR-204	CLIP-seq
MIRT2641112	hsa-miR-2053	CLIP-seq
MIRT2126360	hsa-miR-211	CLIP-seq
MIRT2641113	hsa-miR-2909	CLIP-seq
MIRT2641114	hsa-miR-3064-3p	CLIP-seq
MIRT2641115	hsa-miR-3124-3p	CLIP-seq
MIRT2692984	hsa-miR-3125	CLIP-seq
MIRT2692985	hsa-miR-3157-3p	CLIP-seq
MIRT2641116	hsa-miR-3171	CLIP-seq
MIRT2641117	hsa-miR-324-3p	CLIP-seq
MIRT2641118	hsa-miR-3667-3p	CLIP-seq
MIRT2641119	hsa-miR-3668	CLIP-seq
MIRT2692986	hsa-miR-3916	CLIP-seq
MIRT2641120	hsa-miR-4287	CLIP-seq
MIRT2641121	hsa-miR-4317	CLIP-seq
MIRT2641122	hsa-miR-4421	CLIP-seq
MIRT2641123	hsa-miR-4469	CLIP-seq
MIRT2692987	hsa-miR-450b-5p	CLIP-seq
MIRT2692988	hsa-miR-4645-3p	CLIP-seq
MIRT2692989	hsa-miR-4666-3p	CLIP-seq
MIRT2641124	hsa-miR-4685-3p	CLIP-seq
MIRT2692990	hsa-miR-4712-3p	CLIP-seq
MIRT2641126	hsa-miR-4713-5p	CLIP-seq
MIRT2641127	hsa-miR-4715-3p	CLIP-seq
MIRT2641128	hsa-miR-4732-5p	CLIP-seq
MIRT2641129	hsa-miR-490-3p	CLIP-seq
MIRT2641130	hsa-miR-511	CLIP-seq
MIRT2692991	hsa-miR-518a-5p	CLIP-seq
MIRT2692992	hsa-miR-527	CLIP-seq
MIRT2692993	hsa-miR-548a-5p	CLIP-seq
MIRT2692994	hsa-miR-548ab	CLIP-seq
MIRT2692995	hsa-miR-548ak	CLIP-seq
MIRT2692996	hsa-miR-548b-5p	CLIP-seq
MIRT2692997	hsa-miR-548c-5p	CLIP-seq
MIRT2692998	hsa-miR-548d-5p	CLIP-seq
MIRT2692999	hsa-miR-548h	CLIP-seq
MIRT2693000	hsa-miR-548i	CLIP-seq
MIRT2693001	hsa-miR-548j	CLIP-seq
MIRT2693002	hsa-miR-548n	CLIP-seq
MIRT2693003	hsa-miR-548w	CLIP-seq
MIRT2693004	hsa-miR-548y	CLIP-seq
MIRT2693005	hsa-miR-559	CLIP-seq
MIRT2641131	hsa-miR-569	CLIP-seq
MIRT2641132	hsa-miR-605	CLIP-seq
MIRT2641133	hsa-miR-649	CLIP-seq
MIRT2693006	hsa-miR-874	CLIP-seq
MIRT2693007	hsa-miR-877	CLIP-seq
MIRT2348391	hsa-miR-938	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
HIF1A	Activation	16611863
HIF1A	Repression	10831118

Show/Hide all(77)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000187	Process	Activation of MAPK activity	IEA
GO:0001666	Process	Response to hypoxia	IDA	18156205
GO:0001701	Process	In utero embryonic development	ISS
GO:0002576	Process	Platelet degranulation	TAS
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IBA	21873635
GO:0005114	Function	Type II transforming growth factor beta receptor binding	IDA	11157754, 18243111
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
GO:0005125	Function	Cytokine activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	1326540, 7852346, 9872992, 10930463, 11157754, 11850637, 17827158, 18243111, 21423151
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005634	Component	Nucleus	IEA
GO:0005886	Component	Plasma membrane	IC	11157754
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IBA	21873635
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	11157754, 18718461
GO:0007435	Process	Salivary gland morphogenesis	IEP	18080134
GO:0007565	Process	Female pregnancy	IEA
GO:0007568	Process	Aging	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	11158066
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	11158066
GO:0008285	Process	Negative regulation of cell population proliferation	ISS
GO:0009986	Component	Cell surface	IEA
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	18505915, 18718461
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	ISS
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	IBA	21873635
GO:0010862	Process	Positive regulation of pathway-restricted SMAD protein phosphorylation	ISS
GO:0010936	Process	Negative regulation of macrophage cytokine production	IDA	20875417
GO:0030315	Component	T-tubule	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IEP	17401695
GO:0030509	Process	BMP signaling pathway	IBA	21873635
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030879	Process	Mammary gland development	ISS
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0032570	Process	Response to progesterone	IDA	18039789
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IMP	11158066
GO:0034616	Process	Response to laminar fluid shear stress	IEA
GO:0034713	Function	Type I transforming growth factor beta receptor binding	IDA	18243111
GO:0034714	Function	Type III transforming growth factor beta receptor binding	IBA	21873635
GO:0034714	Function	Type III transforming growth factor beta receptor binding	IMP	8167376
GO:0042060	Process	Wound healing	IEA
GO:0042127	Process	Regulation of cell population proliferation	IBA	21873635
GO:0042476	Process	Odontogenesis	NAS	18078367
GO:0042704	Process	Uterine wall breakdown	TAS	18039789
GO:0042802	Function	Identical protein binding	IDA	18243111
GO:0042802	Function	Identical protein binding	IPI	19073914, 21423151
GO:0043025	Component	Neuronal cell body	IEA
GO:0043065	Process	Positive regulation of apoptotic process	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0043627	Process	Response to estrogen	IEA
GO:0043932	Process	Ossification involved in bone remodeling	IEP	17401695
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045216	Process	Cell-cell junction organization	IDA	18505915
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	18156205
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048286	Process	Lung alveolus development	ISS
GO:0048565	Process	Digestive tract development	IEA
GO:0048702	Process	Embryonic neurocranium morphogenesis	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0050431	Function	Transforming growth factor beta binding	IDA	18243111
GO:0050714	Process	Positive regulation of protein secretion	IDA	18505915
GO:0051491	Process	Positive regulation of filopodium assembly	ISS
GO:0051496	Process	Positive regulation of stress fiber assembly	IDA	18718461
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0060325	Process	Face morphogenesis	IMP	12651933
GO:0060364	Process	Frontal suture morphogenesis	IEA
GO:0060391	Process	Positive regulation of SMAD protein signal transduction	ISS
GO:0060395	Process	SMAD protein signal transduction	IBA	21873635
GO:0062009	Process	Secondary palate development	ISS
GO:0062023	Component	Collagen-containing extracellular matrix	IDA	18049952
GO:0070483	Process	Detection of hypoxia	IDA	18156205
GO:1904706	Process	Negative regulation of vascular associated smooth muscle cell proliferation	IDA	26315405
GO:1905005	Process	Regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS
GO:1905075	Process	Positive regulation of tight junction disassembly	IDA	18718461

MIM	HGNC	e!Ensembl
190230	11769	ENSG00000119699

Protein

UniProt ID

P10600

Protein name

Transforming growth factor beta-3 proprotein [Cleaved into: Latency-associated peptide (LAP); Transforming growth factor beta-3 (TGF-beta-3)]

Protein function

Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively. {ECO:00002

PDB

1KTZ , 1TGJ , 1TGK , 2PJY , 3EO1 , 4UM9 , 8V52 , 8VS6 , 8VSB , 9B9F , 9FK5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00688	TGFb_propeptide	23 → 281	TGF-beta propeptide	Family
PF00019	TGF_beta	314 → 411	Transforming growth factor beta like domain	Domain

Sequence

MKMHLQRALVVLALLNFATVSLSLSTCTTLDFGHIKKKRVEAIRGQILSKLRLTSPPEPT
VMTHVPYQVLALYNSTRELLEEMHGEREEGCTQENTESEYYAKEIHKFDMIQGLAEHNEL
AVCPKGITSKVFRFNVSSVEKNRTNLFRAEFRVLRVPNPSSKRNEQRIELFQILRPDEHI
AKQRYIGGKNLPTRGTAEWLSFDVTDTVREWLLRRESNLGLEISIHCPCHTFQPNGDILE
NIHEVMEIKFKGVDNEDDHGRGDLGRLKKQKDHHNPHLILMMIPPHRLDNPGQGGQRKKR
ALDTNYCFRNLEENCCVRPLYIDFRQDLGWKWVHEPKGYYANFCSGPCPYLRSADTTHST
VLGLYNTLNPEASASPCCVPQDLEPLTILYYVGRTPKVEQLSNMVVKSCKCS

Sequence length

412

Interactions

View interactions

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412