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TGFB3 (transforming growth factor beta 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7043
Gene nameGene Name - the full gene name approved by the HGNC.
Transforming growth factor beta 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TGFB3
SynonymsGene synonyms aliases
ARVD, ARVD1, LDS5, RNHF, TGF-beta3
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3
SummarySummary 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 gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]
SNPsSNP 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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000095 hsa-miR-29b-3p Luciferase reporter assay, qRT-PCR 23354167
MIRT005910 hsa-miR-29a-3p qRT-PCR 21169019
MIRT047598 hsa-miR-10a-5p CLASH 23622248
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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. ; [Latency-associated peptide]: Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix (By similarity). Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with 'milieu molecules', such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3 (By similarity). Interaction with integrins results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-3 (By similarity). ; Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development (By similarity). Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains remain non-covalently linked rendering TGF-beta-3 inactive during storage in extracellular matrix (By similarity). At the same time, LAP chain interacts with 'milieu molecules', such as LTBP1 and LRRC32/GARP that control activation of TGF-beta-3 and maintain it in a latent state during storage in extracellular milieus (By similarity). TGF-beta-3 is released from LAP by integrins: integrin-binding results in distortion of the LAP chain and subsequent release of the active TGF-beta-3 (By similarity). Once activated following release of LAP, TGF-beta-3 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal (By similarity).
PDB 1KTZ , 1TGJ , 1TGK , 2PJY , 3EO1 , 4UM9
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

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