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TGFB3 transforming growth factor beta 3 [ Homo sapiens (human) ]

Gene ID: 7043, updated on 10-May-2020

Summary

Official Symbol
TGFB3provided by HGNC
Official Full Name
transforming growth factor beta 3provided by HGNC
Primary source
HGNC:HGNC:11769
See related
Ensembl:ENSG00000119699 MIM:190230
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARVD; LDS5; RNHF; ARVD1; TGF-beta3
Summary
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]
Expression
Broad expression in placenta (RPKM 31.2), gall bladder (RPKM 25.3) and 22 other tissues See more
Orthologs

Genomic context

See TGFB3 in Genome Data Viewer
Location:
14q24.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (75958061..75983011, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (76424440..76449334, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ergosterol biosynthesis 28 homolog Neighboring gene tubulin tyrosine ligase like 5 Neighboring gene ribosomal protein S2 pseudogene 43 Neighboring gene VISTA enhancer hs2157 Neighboring gene ubiquitin conjugating enzyme E2 L3 pseudogene Neighboring gene intraflagellar transport 43

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of transforming growth factor, beta 3 (TGFB3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Vpu vpu Antibodies against TGF-beta or a TGF-beta receptor inhibitor SB431452 reverse HIV-1 Vpu-mediated profibrogenic activation of LX2 cells, suggesting that TGF-beta mediates these effects PubMed
vpu HIV-1 Vpu-expressing U937 monocytes coculture with LX2 stellate cells to activate release of transforming growth factor beta to culture supernatant, which correlates with increased activity of the AP-1 transcription factor PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ16571

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta binding IDA
Inferred from Direct Assay
more info
PubMed 
type I transforming growth factor beta receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
type II transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type II transforming growth factor beta receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
type II transforming growth factor beta receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
type II transforming growth factor beta receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
type III transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
type III transforming growth factor beta receptor binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
activation of MAPK activity IEA
Inferred from Electronic Annotation
more info
 
aging IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction organization IDA
Inferred from Direct Assay
more info
PubMed 
detection of hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
digestive tract development IEA
Inferred from Electronic Annotation
more info
 
embryonic neurocranium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
face morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
frontal suture morphogenesis IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
inner ear development IEA
Inferred from Electronic Annotation
more info
 
lung alveolus development ISS
Inferred from Sequence or Structural Similarity
more info
 
mammary gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of macrophage cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transforming growth factor beta receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of vascular smooth muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
odontogenesis NAS
Non-traceable Author Statement
more info
PubMed 
ossification involved in bone remodeling IEP
Inferred from Expression Pattern
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of SMAD protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of bone mineralization IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of cell division IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of collagen biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of epithelial to mesenchymal transition IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of epithelial to mesenchymal transition ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of filopodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of pathway-restricted SMAD protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of stress fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of tight junction disassembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
Inferred from Sequence or Structural Similarity
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IDA
Inferred from Direct Assay
more info
PubMed 
response to laminar fluid shear stress IEA
Inferred from Electronic Annotation
more info
 
response to progesterone IDA
Inferred from Direct Assay
more info
PubMed 
salivary gland morphogenesis IEP
Inferred from Expression Pattern
more info
PubMed 
secondary palate development ISS
Inferred from Sequence or Structural Similarity
more info
 
transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
uterine wall breakdown TAS
Traceable Author Statement
more info
PubMed 
wound healing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
T-tubule IEA
Inferred from Electronic Annotation
more info
 
cell surface IEA
Inferred from Electronic Annotation
more info
 
collagen-containing extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IC
Inferred by Curator
more info
PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
transforming growth factor beta-3 proprotein
Names
prepro-transforming growth factor beta-3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011715.1 RefSeqGene

    Range
    4728..28653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_399

mRNA and Protein(s)

  1. NM_001329938.2NP_001316867.1  transforming growth factor beta-3 proprotein isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in an early stop codon and a novel 3' UTR compared to variant 1. The encoded isoform (2) has a shorter C-terminus than isoform 1.
    Source sequence(s)
    AF107885, BC018503, BM804677, CN417712, DA196236
    Consensus CDS
    CCDS86415.1
    UniProtKB/Swiss-Prot
    P10600
    Related
    ENSP00000451110.1, ENST00000556285.1
    Conserved Domains (1) summary
    pfam00688
    Location:24230
    TGFb_propeptide; TGF-beta propeptide
  2. NM_001329939.1NP_001316868.1  transforming growth factor beta-3 proprotein isoform 1 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AF107885, BQ448273
    Consensus CDS
    CCDS9846.1
    UniProtKB/Swiss-Prot
    P10600
    UniProtKB/TrEMBL
    A5YM40
    Conserved Domains (2) summary
    pfam00019
    Location:315411
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:24230
    TGFb_propeptide; TGF-beta propeptide
  3. NM_003239.5NP_003230.1  transforming growth factor beta-3 proprotein isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_003230.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AF107885, J03241
    Consensus CDS
    CCDS9846.1
    UniProtKB/Swiss-Prot
    P10600
    UniProtKB/TrEMBL
    A5YM40, B3KVH9
    Related
    ENSP00000238682.3, ENST00000238682.7
    Conserved Domains (2) summary
    pfam00019
    Location:315411
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:24230
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    75958061..75983011 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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