Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7043
Gene name Gene Name - the full gene name approved by the HGNC.
Transforming growth factor beta 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TGFB3
Synonyms (NCBI Gene) Gene synonyms aliases
ARVD, ARVD1, LDS5, RNHF, TGF-beta3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ARVD1, LDS5
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Transcription factors
Transcription factor Regulation Reference
HIF1A Activation 16611863
HIF1A Repression 10831118
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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
Sequence length 412
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Arrhythmogenic right ventricular cardiomyopathy arrhythmogenic right ventricular dysplasia 1 GenCC
Ventricular Cardiomyopathy arrhythmogenic right ventricular cardiomyopathy GenCC
Loeys-Dietz Syndrome Loeys-Dietz syndrome GenCC
Associations from Text Mining
Disease Name Relationship Type References
Abortion Spontaneous Stimulate 36564776
Adrenal Hyperplasia Congenital Stimulate 24380766
Airway Remodeling Associate 25041788
Androgen Insensitivity Syndrome Stimulate 25313366
Angiofibroma Associate 14567719
Anodontia Associate 12733956
Aortic Aneurysm Associate 25835445
Aortic Aneurysm Thoracic Associate 36356561
Aortic Dissection Associate 25835445
Aortic Valve Stenosis Associate 29227539